Direct-to-consumer genomic testing Contents

3Supporting a responsible direct-to-consumer genomic testing industry

35.The previous Chapter highlighted the opportunities and risks associated with direct-to-consumer genomic testing, which the Government should seek to seize and mitigate respectively. In this Chapter, we present some of the main proposals discussed in the oral and written evidence for achieving this, focusing on testing used for medically-related purposes.

Continued support for the UK genomics sector

36.The current and previous Governments have implemented a variety of programmes to support genomic testing in the UK.133 Although these have mostly not focused on genomic tests sold directly to consumers, the BioIndustry Association told our predecessor Committee that the “Government’s support instils confidence in the sector and sends strong international signals that the UK continues to be the best location in the world to [ … ] start and grow genomics companies”.134 The latest national strategy for genomics lists some specific measures intended to support the growth of the commercial genomics sector, such as facilitating access to genomic data resources, supporting collaboration and making capital investment available.135

37.Strong support for genomic testing from the current and previous Governments has helped to make the UK a world-leader in the sector. Although this support has focused on testing in the NHS, it has nonetheless supported the direct-to-consumer genomic testing industry. The Government should continue its support for genomic testing in the UK.

Ensuring a responsible, trusted genomic testing industry

38.As stated in the previous Chapter, many submissions to our inquiry and to our predecessor Committee’s inquiry raised concerns over the risk that some health-related genomic tests sold directly to consumers could report false positive, false negative, ambiguous or misleading results (see paragraph 25).136 This is despite the current regulation of direct-to-consumer genomic tests under the Medical Devices Regulations 2002, which place obligations on tests including requirements to be “suitable for the purposes [ … ] of providing information concerning a physiological or pathological state, or concerning a congenital abnormality”, and to “achieve the performances [ … ] stated by the manufacturer”.137 Alleged weaknesses of the current regulations identified during our inquiry and our predecessor Committee’s inquiry, as well as some potential remedies, are discussed below.

External validation

39.The Medical Devices Regulations 2002 do not classify genomic tests as a high-risk product (which are subject to more rigorous regulatory approval), allowing most providers to self-declare their products’ conformity with the regulations.138 Graeme Tunbridge, Director of Devices at the Medicines and Healthcare products Regulatory Agency (MHRA), explained that since there was currently “relatively little in the way of pre-market scrutiny” of genomic testing products, it was “incumbent on the company providing it to do what is necessary in making sure that the test is accurate and provides good results in the way they are presented to consumers”.139 He suggested that, whereas currently the MHRA had to “take the company’s word” that it was taking appropriate steps to provide products responsibly, regulatory change could require “additional scrutiny by a third party”.140

40.In line with this, several submissions to our inquiry and our predecessor Committee’s inquiry advocated greater scrutiny of companies’ products by external organisations.141 For example, 23andMe, a company that provides medically-related genomic tests directly to consumers, referenced its engagement with the MHRA before and after placing its product on the UK market, and told us that “all new entrants to the market should have discussions about undertaking a similar exercise to ensure that tests are suitable for UK consumers”.142 The Atlas Biomed Group said that by creating an “accessible and respected framework for device and technology registration”, the UK could “attract companies, start-ups, investors and scientific talent to biotech hubs around the country”.143

41.Most manufacturers of genomic tests sold directly to consumers can self-certify the conformity of their products to performance requirements. The Medicines and Healthcare products Regulatory Agency has suggested that this restricts its ability to ensure that genomic tests on the UK market provide reliable results. The Government should require manufacturers of direct-to-consumer genomic tests to have the performance of their tests assessed by an external body prior to placing their products on the UK market.

Technical standards

42.Researchers at the University of Exeter suggested that one reason for high rates of false positive results could be the type of testing used by some companies providing genomic testing directly to consumers.144 The UK Clinical Genetics Society added that it was “not clear whether commercial companies carry out testing to the same high stringent standards that are employed in the NHS, for example to avoid contamination of samples”.145 In line with this, Professor Sir Mark Caulfield, Chief Scientist at Genomics England, told us that whereas the genomic tests performed by Genomics England and provided to the NHS use an “accredited clinical grade pipeline [ … ] some tests done by direct-to-consumer providers meet that standard but some do not”.146 He explained that this meant that Genomics England “could not necessarily take” data obtained from a test provided directly to a consumer and “give it back to the health system as a clinical-grade test”:

That is not to say that the test is invalid, nor that it could not be useful for healthcare. It is simply that, if we are returning direct to patients, we have to have an end-to-end picture of the quality of that data and how it has been gathered.147

Professor Caulfield clarified that “for such data to meet the regulatory standards for a clinical grade test the end to end procedure needs to meet ISO accreditation which Genomics England, NHS England and Illumina have attained for the NHS whole genome sequencing programme”.148

43.Reflecting these concerns, several submissions recommended the development or use of clearer standards for the technical performance of genomic tests, to clarify what was expected and provide assurance that this was being met.149 Dr Susie Cooke, Head of Medical Genomics at the University of Glasgow, noted that the current framework involved “broad regulations that apply to everything from catheters to MRI scanners”, and argued that “what is missing is clear guidance or precedent on how to interpret these regulations to apply them to genomic testing”.150 The PHG Foundation, a non-profit think tank focused on genomics, suggested that “developing some sort of NHS standards to which commercial providers might aspire (similar to encouraging the commercial development of health apps for the NHS Apps library) might allow health professionals to respond to test findings, or even integrate results into NHS patient records”.151 Kathy Hibbs, Chief Legal and Regulatory Officer at 23andMe, added that a “data alignment strategy” could help data-sharing for research purposes.152

44.The results obtained from genomic tests provided directly to consumers cannot be integrated into Genomics England or NHS records since they do not always meet the standards required of the end-to-end testing and data handling process. Enabling tests that are provided directly to consumers to demonstrate that they meet the required standards could help to: reduce the likelihood of false positive or false negative results; facilitate the sharing of data obtained from direct-to-consumer tests, which could potentially support research efforts; and reduce the need for the NHS to re-test individuals following a commercially-obtained test, potentially reducing the burden placed on the NHS by direct-to-consumer tests. The Government should work with Genomics England and the NHS to define clear technical standards for direct-to-consumer genomic testing that, if met, would enable the genomic data generated by the test to be used and trusted by Genomics England and the NHS. The Government should also establish a mechanism by which providers of direct-to-consumer genomic tests could validate that their tests met these standards.

Analytic and clinical performance

45.The Medical Devices Regulations 2002 set out the particular attributes of a device that should be used to judge its performance, including its “analytical sensitivity, diagnostic sensitivity, analytical specificity [and] diagnostic specificity”.153 In keeping with this, Dr Ron Zimmern, Chair of the PHG Foundation, argued that the current regulation’s “main purpose has been to regulate analytical validity” and that there was “general understanding that it does not, and does not seek to, regulate clinical utility”.154 Illumina, a manufacturer or genomic technologies, explained that:

Clinical validity and clinical utility can be considered together as the device’s overall ‘clinical performance’.

46.Dr Zimmern clarified the importance of both the analytical and clinical properties of a test using an analogy with an X-ray machine, which needs to be safe to use and provide the necessary quality of imaging but which also should be used in different ways for different clinical situations and to guide different clinical pathways.156 Graeme Tunbridge, Director of Devices at the MHRA, suggested that the current requirements were slightly more demanding than those described by Dr Zimmern but nevertheless appeared to agree that they could be strengthened:

[Under the current regulations,] the provision of clinical evidence alongside the test is relatively limited [ … ] there has to be only a basic analytical correlation between a marker that has been detected and a clinical condition for that to be reported. I think the prevailing view is that you want to see a bit more in the way of clinical validity.157

Similarly emphasising the importance of clinical performance, the PHG Foundation said that “harms may arise when a test provider states or implies that a specific test result has certain health implications without robust supporting evidence”.158 The importance of clinical performance, and concerns about the current requirements for clinical performance, were also raised by several others, including the British Society for Genetic Medicine.159

47.The performance requirements on direct-to-consumer genomic tests under the current regulations focus on a genomic test’s analytical performance, not its clinical performance. For a medically-relevant test, however, clinical performance is fundamental to how the test will be used by a consumer. The Government should extend the scope of the performance requirements on direct-to-consumer genomic tests to explicitly cover clinical performance as well as analytical performance.

48.As indicated by Dr Zimmern’s X-ray machine analogy, the clinical performance of a test relies on the interpretation of the test results and what they mean for the individual who was tested. However, multiple submissions emphasised that, even with accurate testing, interpretation of genomic test results to infer information about health was typically complex.160 Indeed, the British Society for Genetic Medicine stated that its main concern with commercial genomic testing “arises from the juxtaposition of the technical ease and speed of obtaining individual genomic data with the difficulties in interpreting what genomic variation means for an individual and the lack of clear predictions that can be made about future health”.161 The main sources of this complexity outlined in the evidence are discussed below.

Evidence of clinical performance

49.The first identified source of complexity in assessing the clinical performance of a genomic test was the nature of research used to inform interpretation, which typically looks for variations in the genome that are statistically connected to certain conditions but may not explain the reason for the connection. The National Institute for Health and Care Excellence (NICE) cautioned that there were “thousands of genes in the scientific literature which are associated with disease but that does not mean the presence of the gene has a causal link to the disease or risk of developing disease”.162

50.Several direct-to-consumer genomic testing companies set out the steps they took to ensure that the results that they returned to their customers were based on reasonable scientific evidence.163 For example, Kathy Hibbs, Chief Legal and Regulatory Officer at 23andMe, told our predecessor Committee that 23andMe only reported results to consumers that were supported by at least two peer-reviewed studies and, typically, that were included in clinical guidelines.164 However, some companies also argued that other companies offered tests based on insufficiently robust or transparent evidence.165 Professor Timothy Frayling of the University of Exeter warned that companies selling tests directly to consumers “clearly have a vested interest in highlighting the handful of research studies that support their claims and ignoring the ones that do not”.166 NICE said that “an independent evidence-based evaluation of the clinical effectiveness of a test could provide reassurance about test accuracy and clinical validity, and ensure that evidence is interpreted appropriately”.167

51.With regards to the challenge of selecting the appropriate genomic test, Dr Ron Zimmern, Chair of the PHG Foundation, said that it was “important to understand that the individual citizen is not in a position to take a view on the variants which may be clinically beneficial, and that it is professionals who would need to decide on the set of variants (and the genes) that should be analysed”.168 Graeme Tunbridge, Director of Devices at the MHRA, told us that “ensuring that the entire genetic aspect is taken care of” by a test was a “really tough” challenge, noting that “for some diseases there are hundreds or thousands of potential mutations that could have an impact”.169 He suggested that addressing this challenge “almost” required managing tests on a “case-by-case basis”.170

52.Reflecting the rapidly-developing nature of the scientific understanding underpinning genomic testing, NHS England updates its National Genomic Test Directory annually.171 Researchers from Newcastle University also told our predecessor Committee that “evidence suggesting relationships between particular genomic markers and diseases or traits has a track record of being modified or even disproven over even short periods of time”.172 Graeme Tunbridge told us that a company providing genomic testing “should be constantly updating its clinical evidence” to “ensure it is reflecting the state of the art in medicine”.173

53.As the evidence base for genomic testing develops rapidly, some have expressed criticism of the evidence used by some direct-to-consumer genomic testing companies to justify their tests, or warned of the risk of companies ‘cherry picking’ the most favourable evidence available. Requiring external validation of direct-to-consumer genomic tests, covering clinical as well as analytical performance, could help to address this. In addition to pre-market validation of direct-to-consumer tests, the Government should consider requiring companies offering such tests to regularly update the evidence submitted to the external validation body, and for that body to review this, for example on an annual basis.

Medical supervision and genetic counselling

54.The second identified source of complexity in assessing the clinical performance of a genomic test was the variable relevance of the statistical evidence behind a test result for any given individual. Several submissions highlighted that evidence of statistical correlation had often been collected from specific sub-groups of the population (for example those with symptoms of disease or people from specific ethnic backgrounds), which meant that it might not be applicable to the general population or those from other sub-groups, those with or without certain symptoms, or those with certain personal and family medical histories.174 The British Society for Genetic Medicine emphasised that “interpretation is dependent upon context and clinical evaluation of a patient’s symptoms and signs, the family history and the reasons underlying the test request”.175

55.Related to this challenge of tailoring the interpretation of genomic test results to the individual that used the test, the challenge of selecting the appropriate test to use for a specific individual was also raised. Professor Anneke Lucassen, then Chair of the British Society for Genetic Medicine, explained that “in the health service, if you were looking for a specific genetic disease, you would tend to target the particular gene that you suspected and analyse that in detail”.176 The Cancer Genetics Group warned, however, that if a test did not sequence the appropriate genes then a “negative result could be falsely reassuring”.177 Graeme Tunbridge of the MHRA said that ensuring that genomic tests were relevant to the specific individual using them and that they tested all the relevant parts of the genome for a given consumer posed “some very real problems” with “no simple solution”.178

56.Other challenges raised in the evidence included the relative importance of genetic factors for disease compared to other factors such as lifestyle, environmental exposure and random chance,179 and the fact that conditions can manifest at different stages in life and with different levels of severity.180 Many submissions highlighted that these specific challenges were exacerbated by poor public understanding of genomic testing.181 A research group at the University of Southampton, for example, highlighted that the reality of complex and often uncertain interpretation “strongly contrasts with the public image that exists around genetics, which is [that it is] overwhelmingly clear-cut and unambiguous in terms of the ability to predict future health risks”.182

57.Many submissions highlighted how the challenges discussed in paragraphs 54 to 56 were managed in the NHS, and contrasted this with the practices of direct-to-consumer genomic testing. The British Society for Genetic Medicine, for example, stated that NHS genetic services “utilise family history and clinical information to interpret results”, whereas “commercial testing often does not take any contextual factors into account, meaning that the chance of false positive and false negatives is much higher”.183 The Association of Genetic Nurses and Counsellors warned that “commercially available genetic tests do not tailor-make the testing to a specific family history of disease, nor [the patient’s clinical symptoms]”, meaning that the “appropriate test may not be done”.184 The Shelford Group of research-intensive NHS trusts similarly highlighted the “huge difference between testing a symptomatic person for clinical reasons to find a diagnosis and formulate a management plan for that person and relevant relatives within the NHS versus doing a massive test for non-specific reasons”.185 Finally, the Cancer Genetics Group told our predecessor Committee that “without the interpretative support of a genetic counsellor [as would be provided in the NHS], a significant proportion of the population may not fully understand percentages or relative risks compared to the general population and therefore misinterpret their results”.186 The Association of Genetic Nurses and Counsellors said that the counselling and support services offered by most direct-to-consumer genomic testing companies was “severely lacking”.187

58.In line with the personalised testing and interpretation provided by the NHS to ensure appropriate testing and interpretation, some submissions suggested that at least some genomic tests should only be available to consumers through a medical intermediary.188 The Royal Colleges of Physicians and of Pathologists drew comparison with pharmaceuticals that are approved for ‘over the counter’ sale or on prescription only, and advised that “genomic tests could be approved for ‘access via a registered health professional’ or ‘direct to consumer’ use”.189 The Wellcome Sanger Institute made a similar recommendation.190 A strict form of this approach has been adopted by a variety of European countries, including France, Germany and Spain, which require medical supervision for all health-related genomic tests.191 The Royal College of General Practitioners made a related suggestion that regulations should require companies providing genomic testing directly to consumers to “provide clinical support” to their customers.192

59.Closely related to calls for medical supervision, over 30 submissions to our inquiry and our predecessor Committee’s inquiry stated the importance of adequate genetic counselling alongside testing,193 and at least fourteen explicitly recommended that some form of genetic counselling be required for at least some direct-to-consumer genomic tests.194 The Association of Genetic Nurses and Counsellors explained that genetic counselling involved supporting individuals through the genomic testing process, including:

Professor Anna Middleton, Chair of the Association of Genetic Nurses and Counsellors, emphasised that genetic counselling was different from more general therapeutic counselling.196

60.Arguing against a requirement for genetic counselling with direct-to-consumer genomic tests, Kathy Hibbs, Chief Legal and Regulatory Officer for 23andMe, said that 23andMe’s product had “been designed to be sold over the counter without provision” of counselling, and that “numerous user comprehension studies” had “demonstrated that it is safe and effective without the counselling”.197 However, despite its confidence in the information it provides to its customers, 23andMe recommends that “users speak with a genetic counsellor before testing, and also after testing, to help them understand their results and what actions they should take”.198 Ms Hibbs explained that there “were times when [23andMe] offered genetic counselling”, but “only a tiny percentage of people ever utilised it”, and that it “would probably be inappropriate” for 23andMe to provide counselling itself.199 She added that US studies had found that “as many as 40% of women prescribed a BRCA test by their physician [ … ] never actually utilised the test if genetic counselling was required pre-test”, which she argued meant that there were “access issues that could be driven by imposing a counselling requirement as well” (although she noted that this issue “could be different in the UK”).200

61.Some submissions suggested that genetic counselling should be offered with any genomic test sold directly to consumers.201 The Human Genetics Commission, a former advisory body to the UK Government, also recommended in 2010 that pre- and post-test counselling be offered with any “genetic test in the context of inherited or heritable disorders”.202 The European Society of Human Genetics and the American College of Medical Genetics and Genomics have each recommended that expert advice, tailored to the specific person using the test, be provided to consumers before and after using health-related genomic tests.203 However, Professor Anna Middleton, Chair of the Association of Genetic Nurses and Counsellors, told our predecessor Committee that she did not think that “genetic counselling per se should be the gatekeeper for the ability to access a genetic test”, because the need for it was “context specific”.204 She recommended instead that genetic counselling should be “offered pre- and post-test for serious, life-threatening, inherited conditions”.205 Professor Anneke Lucassen, then Chair of the British Society for Genetic Medicine, similarly stated that the Society was not “calling for counselling for all genetic tests”, but thought that it should be provided with tests for all “very high-risk conditions” or for “highly predictive test[s]” with “big implications for either no treatment or drastic treatment”.206 Several other submissions, such as from the PHG Foundation and the Royal College of Physicians of Edinburgh, made similar recommendations.207 The Nuffield Council on Bioethics recommended that counselling be required prior to and after non-invasive prenatal testing, a form of genomic testing for fetuses during pregnancy.208 Genomics plc, a company offering genomic tests to consumers through healthcare providers, argued against requirements for genomic counselling where tests provided information related to common diseases by detecting large numbers of genetic factors each with weak influence on the overall risk, saying that the “information communicated in those cases would refer to individually small effects on risk for individuals and their families” and should be treated like predictive tests for other risk factors such as blood pressure or cholesterol.209

62.The changes to regulation planned by the previous Government would have introduced a requirement for “appropriate access to counselling” to be provided if the genomic test pertained to “genetic predisposition for medical conditions or diseases which are generally considered to be untreatable”.210 Professor Middleton described this focus on untreatable conditions as an “unhelpful distinction”, noting that treatable conditions could still require management of appropriate screening measures and interaction with relatives, entailing an “awful lot of thought and consideration of the family dynamics and the moment when you need to test, and loads of counselling can go with that”.211 Graeme Tunbridge of the MHRA similarly told us that the previously planned regulatory changes for counselling were a “fudge”.212

63.Professor Middleton also noted that the regulation was ambiguous on what would constitute appropriate counselling.213 She argued that “counselling has to be a two-way process; it is a dialogue and it is patient-centred, because it is focused on what the patient needs”, and clarified that support for consumers delivered through written information or using automated systems “would not be counselling”.214 The UK Clinical Genetics Society, a professional body, similarly noted that “patients accessing genetic testing through the NHS are usually offered a face to face appointment”, which it said “may be an essential component of their evaluation as it may enable a clinical diagnosis to be made”.215 In its written evidence, the Association of Genetic Nurses and Counsellors also argued that counselling should be delivered by “trained and regulated genetic counsellors”.216 Several other submissions agreed on the importance of professionally qualified counsellors.217

64.Results obtained from genomic testing must typically be considered in the context of an individual’s specific circumstance—including their symptoms, personal and family medical history and ethnicity—in order for the clinical significance of those results to be interpreted correctly. These personal details are also often pertinent to the selection of the most appropriate genomic test for an individual. The NHS takes account of these contextual factors through the expert supervision and counselling provided throughout the testing process. In contrast, companies providing genomic testing directly to consumers appear to provide generic tests and depend upon consumers understanding written information provided alongside the test that has not been tailored to their personal situation. The Government should consider the case for amending the regulation of genomic tests provided directly to consumers, to require medical supervision or the provision of genetic counselling for at least some types of genomic testing offered directly to consumers. Criteria used to determine which tests should require medical supervision could include the severity of the conditions being tested for, as well as the predictive power of the test. Requirements for supervision and genetic counselling should cover the qualifications of the medical intermediary required and minimum requirements on the content and format of the support or oversight provided.

Information for consumers

65.As described in paragraph 60, 23andMe argued—despite recommending that its customers consult a genetic counsellor—that the information provided with its test results made them safe without counselling.218 The updated regulations planned by the previous Government would have introduced a requirement for users of medically-relevant genomic tests to be “provided with relevant information on the nature, the significance and the implications of the genetic test”.219 Graeme Tunbridge of the MHRA suggested that updated regulation could provide for additional external assessment of the information provided to consumers along with their test results:

[External scrutiny by a third party could cover] much more in the way of data to make sure [it was] happy that when [a provider is] reporting something it is reported properly, that the risk of failure is properly reported as well and that the consumer can properly understand the result based on all those factors.220

66.Professor Anneke Lucassen, then Chair of the British Society for Genetic Medicine, acknowledged that “certain companies have excellent websites” and said that the “problem lies more in the expectations of the people using the test”.221 She suggested that, for this reason, she “might say that it is not so much about regulating the companies as about improving the information around what a genetic test might and might not tell you”.

67.Related to this point, several submissions expressed concern regarding the advertising of direct-to-consumer genomic tests.222 Dr Felicity Boardman of Warwick Medical School told our predecessor Committee that research had “consistently found that advertising of tests [offered directly to consumers] typically falls short of the information standard that would be expected of testing provided within state funded healthcare settings”.223 She said that “overstatement of the effectiveness of the tests, both in terms of their analytic and clinical utility” was “not uncommon”, nor was a “minimisation of the risks associated with uncovering this knowledge, in terms of impacts for biological relatives as well as mental and physical health”.224 The Royal College of General Practitioners warned that misleading advertising of direct-to-consumer genomic tests “feeds unrealistic patient expectations of healthcare”, with researchers at Newcastle University noting that “consumers are likely to assume that genetic testing [ … ] is always highly predictive and determinative”.225

68.Professor Anna Middleton, Chair of the Association of Genetic Nurses and Counsellors, explained that one problem was the contrast between the marketing for tests that “implies that you can use them clinically” and the “small print [where] it is very clear that they are not to be used clinically”.226 Another problem identified by several submissions concerned the statistics used in advertisements for genomic tests. For example, the Nuffield Council on Bioethics warned that some commercial providers were engaging in “misleading use of statistics and language about the accuracy of non-invasive prenatal testing”.227 It explained that companies were often highlighting high negative predictive values (the proportion of the fetuses that test negative who are actually unaffected) without making clear that the positive predictive values (the proportion of the fetuses that test positive who are actually affected) could be significantly lower.228 Dr Rachel Horton of the University of Southampton has noted that low false negative rates can also be misleading:

Generally, direct-to-consumer genetic testing companies’ reports specify if they have only taken a very limited look at particular genes, and some have really impressive and detailed information about this on their websites. However, the stats they give about false negatives understandably relate to the test they’re actually doing: so a reported false negative rate below 1% means that, for the particular variations within a gene that a test looks at, the test would miss less than 1% of people who have one of these exact variations. However, a BRCA test only looking at three common variants would miss around 80% of people with a BRCA variant that increased their chance of cancer.229

69.Amidst these concerns, the Royal College of Physicians of Edinburgh said that it was “vital that advertising of direct to consumer genetic tests is truthful and describes the offer in intelligible language, with easily understandable information about the limitations of the tests on offer as well as the benefits”.230 The British Pharmacological Society added that companies should “provide a clear picture of how comprehensive their test or interpretation is”, in particular by specifying which variants were and were not tested for.231 The Royal Colleges of Physicians and Pathologists gave examples of the information that they thought companies should provide with their tests, including:

70.In 2020, the Advertising Standards Authority issued three rulings against commercial providers of non-invasive prenatal testing, determining that their advertisements were misleading (although the statistics they had quoted were accurate) because consumers were likely to misunderstand what the statistics meant.233 It advised that, going forwards, “providers are best advised to stay away from using ‘detection rates’ in their ads as they can confuse and mislead consumers”, and that “if providers do want to use them, they should also provide the ‘positive predictive value’ percentage alongside a clear explanation of what both figures actually mean to avoid misleading consumers”. The Committee of Advertising Practice issued an enforcement notice setting out these guidelines, contacted providers to ensure that they were complying with the new guidelines and stated that it would refer any companies that refused to comply to Trading Standards or relevant professional regulatory bodies.234 Looking beyond non-invasive prenatal testing alone, the Nuffield Council on Bioethics has recommended that the “responsible authorities pay more attention to whether genetic test providers are making clinical claims for their products, even if implied rather than explicit”.235

71.Several contributors to this inquiry expressed concern that the information provided to consumers before and after using a direct-to-consumer genomic test, as well as the advertising used to market direct-to-consumer genomic tests, did not do enough to address public misconceptions of the capability of these tests and clarify the clinical utility of the results generated. Even where advertising material has used statistics accurately, the Advertising Standards Authority has ruled that there is still scope for them to provide a misleading impression to consumers. The Government should consider the case for including reviews of the information provided to consumers prior to and after taking a direct-to-consumer test within any external validation required to place such tests on the market. This could, for example, include assessment of studies of consumer understanding of the information provided.

72.Building on its review of advertising for non-invasive prenatal testing, the Advertising Standards Authority should review, within the next year, the marketing materials used by companies offering other genomic tests directly to consumers, focusing in particular on the clinical performance implied by the tests compared with their actual performance.

73.Several submissions criticised the level of support offered to consumers before and following a non-invasive prenatal test in particular.236 Antenatal Results and Choices, a charity providing information and support to those undertaking antenatal screening, highlighted that “results from non-invasive prenatal testing can lead to profound decisions for expectant parents”, with Don’t Screen Us Out, a campaign group, noting that “90% of pregnant women who screen for Down’s syndrome go on to terminate the pregnancy”.237 Agreeing that there was “frequently a presumption that termination will be the next choice that [prospective parents] will make” following a positive prenatal test, the Down’s Syndrome Association therefore highlighted the importance of “up to date, balanced and accurate information about the condition being screened for and counselling to help a prospective parent make an informed decision about the rest of their pregnancy”.238 Underscoring this, Dr Felicity Boardman of Warwick Medical School noted that there was a “significant contrast between the attitudes of people who live with genetic conditions and the general population on the possibility of selective reproduction”, where “those with prior experience generally view the condition in a more favourable light than those without”.239

74.Whereas submissions called for clear, balanced information for consumers using commercially-provided non-invasive prenatal testing, the Down’s Syndrome Association told our predecessor Committee that there was “frequently an absence of support at the critical time of delivery of test results”.240 It added that “screening midwives, working within NHS hospitals, often speak in terms of being left to ‘pick up the pieces’ after women have paid privately for a commercial genomic testing service”. The Nuffield Council on Bioethics recommended that “accurate, balanced and non-directive information should be readily available to women and couples in accessible written and multimedia formats”, including “what they might expect from life with a child or adult with the condition being tested for”.241 Antenatal Results and Choices, a charity providing information and support to those undertaking antenatal screening, told our predecessor Committee that it “would be helpful if there could be easily accessible online guidance for both the providers and expectant parents considering such services, which is informed and endorsed by relevant international and national professional bodies and stakeholder organisations”.242

75.Since our predecessor Committee decided to launch an inquiry into commercial genomics, there have been several significant developments regarding non-invasive prenatal testing. Firstly, the Care Quality Commission has started inspecting private clinics providing non-invasive prenatal testing.243 Secondly, the Royal College of Obstetricians and Gynaecologists is developing guidance for healthcare professionals on care after non-invasive pre-natal testing, covering the provision of accurate testing and accurate, balanced and non-directive information and support, including how to deal with unanticipated or secondary findings and failed tests.244 This is due to be published in “early 2021”. The Nuffield Council on Bioethics has noted that this guidance could help to provide the Care Quality Commission’s inspectors with professional standards specific to non-invasive prenatal testing to help them conduct their inspections.245 The NHS has also updated its online information about Down’s syndrome with help from the Down’s Syndrome Association, with the Nuffield Council on Bioethics saying that the new website “now gives a much more balanced portrayal of Down’s syndrome and what to expect from a life with the condition”.246

76.The potential for results from non-invasive prenatal testing to influence decisions made on terminating pregnancies raises specific issues not encountered by most other genomic tests offered to consumers. Several submissions highlighted the importance of the information and other support provided to those receiving results from such tests to not only ensure comprehension of the result but also to provide balanced, non-directive information about the different options following the test result. Since our predecessor Committee launched its inquiry into direct-to-consumer genomics, there have been several significant developments related to the information and support provided with non-invasive prenatal testing. We hope these will address some of the concerns raised during our inquiry and our predecessor Committee’s inquiry. As the Government considers the requirements that should be introduced on the information provided to consumers using direct-to-consumers genomic tests, it should consider specific requirements for prenatal genomic testing to ensure that the information provided is balanced and non-directive, with accurate information on what might be expected from life for a child or adult with the condition being tested for.

Support for the NHS

77.As described in paragraph 16, one concern regarding genomic tests provided directly to consumers was the risk that they could increase pressure on the NHS, in particular if consumers consulted NHS professionals to discuss test results that they had obtained privately. Although there is not yet strong evidence of this happening (see paragraphs 27 and 28), 23andMe recommends that its customers consult genetic counsellors before and after taking a test, and the then Government told our predecessor Committee that there were “scenarios in which consumers who have received a commercial genomic test result are likely to need or request access to counselling or support services in the NHS”.247 It said that “in this case, the consumer is most likely to approach their GP who can arrange referral to a specialist”. It additionally warned that “any requirement to offer specialised NHS genetic counselling services to those receiving a commercial genomic test result would need to consider workforce capacity and potential new workforce models”.248

78.The Royal College of General Practitioners has published a position statement advising general practitioners that “patients should not be referred to secondary or tertiary care solely on the basis of direct-to-consumer genomic test results”, and that instead “patients should be offered the NHS care which would otherwise have been offered [ … ] regardless of their direct-to-consumer genomic test result.249 Noting that “NHS Genetics Centres have been advised not to see people if the test is not one that would be normally offered in the NHS”, the Nuffield Council on Bioethics nevertheless warned that “clinicians have told us that it can be difficult to turn people away”.250 In 2019, the then Chair of the Royal College of General Practitioners told our predecessor Committee that general practitioners were “not sufficiently supported to interpret the results of direct-to-consumer genomic tests”:

As the availability of these tests to the wider public is a new phenomenon it is understandable that GPs and their teams may not have sufficient knowledge and training of all areas around direct-to-consumer genomic testing to be able to interpret the results and appropriately support their patients. We believe it is likely that further education or training will be required for clinicians to help them understand the principles and terminology of genomics, as well as to understand the ethical issues that may arise; and to support patients, and implement appropriate management, and navigate new clinical pathways.251

The Royal College of General Practitioners said that it was working with NHS Health Education England to “develop a genomics toolkit for primary care professionals”. The PHG Foundation suggested that “clear policies and guidance for NHS professionals on when and how commercially obtained testing results should be considered (and how to handle situations when they should not be) could help minimise the burden on NHS services considerably; such decisions require considerable thought and effective communication to the public”.252 The Royal College of General Practitioners added that it believed that the Government and NHS England should also “educate patients about the limitations of direct-to-consumer genomic testing”.253

79.Many submissions to this inquiry expressed concern that direct-to-consumer genomic testing could increase pressure on the NHS due to consumers consulting their GP following a test result. Although there is not yet strong evidence of this happening, some companies providing tests directly to consumers recommend that their customers consult genetic counsellors before and after using their products, and the previous Government acknowledged the likelihood of such customers consulting NHS specialists or GPs. The Government should gather evidence on the current impact of direct-to-consumer genomic testing on the NHS, as well as the effectiveness of guidance and other support offered to NHS professionals encountering patients who have used such tests. If necessary, the Government should support the Royal Colleges and other relevant organisations to publish guidance for NHS professionals, as well as for consumers consulting the NHS following a direct-to-consumer genomic test, explaining the capabilities and limitations of those tests, how the NHS will act on results obtained from such tests and the reasons for the actions that the NHS will and will not take.

80.The 2019 Topol Review of healthcare technology and its likely implications for NHS staff highlighted the growing role for genomics and the increasing need for NHS staff to be trained to work with genomic data.254 Since 2014, NHS Health Education England has been running a Genomics Education Programme to develop genomics capability across the NHS workforce.255 In 2019, the Association of Genetics Nurses and Counsellors warned, however, that its workforce in particular was in a “dire situation”:

The potential risks from an increase in the availability of commercial genomic testing is that it increases burden on an already stretched NHS genetic counselling service. In the UK there are only 300 genetic counselling positions and due to retirement and unfilled posts we will be short of 80 genetic counsellors in the next 3 years.256

Professor Mark Caulfield, Chief Scientist at Genomics England, suggested that the “use of automated counselling [ … ] may help to address the workforce capacity to deal with [increased demand for counselling]”.257 However, as discussed at paragraph 63, Professor Anna Middleton, Chair of the Association of Genetics Nurses and Counsellors, argued that meaningful counselling could not be delivered using automated systems.258

81.The Royal Colleges of Physicians and of Pathologists raised concern that the current situation, where consumers may look to the NHS to interpret results obtained from direct-to-consumer tests, created “an uneven playing-field where the commercial providers take profit from offering tests whilst contributing nothing to the NHS providers who are left dealing with unexpected or difficult outcomes”.259 The Cancer Genetics Group recommended that the Government should “consider a private company levy to help pay for NHS validation and interpretation of findings”.260 Asked by our predecessor Committee about the industry contributing to the cost of training genetic counsellors, representatives from 23andMe, Ancestry and DNAfit indicated that their companies would be willing to support such an initiative.261 In a letter responding to the previous Committee’s interim findings, the then Minister, Baroness Blackwood, said that Health Education England would be willing to “explore [with stakeholders in the commercial genomics sector] how they may support an increase in training commissions for genetic counsellors”.262 The current Minister, Lord Bethell, told us that the companies’ offer was “very welcome” and that Health Education England was in the “early stages of working with NHS England and system partners to assess how it can collaborate with the private sector on genetic counsellor training”.263

82.Concern was raised with us that companies providing genomic tests directly to consumers could profit from supplying the tests while leaving the NHS to deal with consumers and their results following the test. Addressing this issue, representatives of several major direct-to-consumer testing companies indicated to our predecessor Committee their willingness to contribute to ongoing efforts to train genetic counsellors within the NHS. The Government should continue to explore, with NHS England and NHS Health Education England, the opportunity for companies selling genomic tests directly to consumers to contribute to the costs of training genetic counsellors in the NHS.

Data protection

83.As discussed in paragraphs 21–22, several concerns were raised regarding the privacy and consent of consumers providing samples to companies for genomic sequencing, although few of these concerns were specific to genomic testing. Genetic data processed in the UK is subject to data protection legislation, under which it is given the same protection as certain other “special categories of personal information” (such as data revealing ethnic origin or religious beliefs).264 Consequently, genetic data can only be processed if the relevant individual has given explicit consent for their data to be processed for a specified purpose, other than in certain other circumstances (for example for reasons of public interest, such as for public health). This may not apply, however, where a consumer transfers their data out of the UK for processing, or their genetic sample out of the UK for sequencing. Representatives of 23andMe, Ancestry and DNAfit each told our predecessor Committee that their companies complied with data protection legislation, and that where they shared consumer data it was always with the consumers’ continued consent and in a de-identified form.265 Although EthicsAndGenetics, a campaign group, argued that the “business model of companies such as 23andMe and Ancestory.com is to harvest genomic and health data from the people that purchase their genetic tests, and sell that data for their own profit”, Kathy Hibbs, Chief Legal and Regulatory Officer for 23andMe, said that 23andMe “generate[d] more income from customers than we do from our data-sharing arrangements”.266

84.With regards to specific concerns about the potential use of genetic data by insurers, a Code on Genetic Testing and Insurance has been agreed between the Government and British insurers that permits insurers to consider the results of a predictive genetic test only for applications for life insurance above £500,000, and where the test result relates to Huntington’s disease.267

85.Despite this legislation and the Code on Genetic Testing, several submissions argued that problems persisted.268 For example, researchers at Newcastle University told our predecessor Committee that “online formats easily conflate informed consent with current practices around tick-boxing terms and conditions”, and that “the provider has no idea if the individual has even read the contract, never mind understood it”.269 Ms Hibbs, however, highlighted that the consent processes used by 23andMe were approved by an external ethics board, to ensure that “they give people the right amount of information to make it clear what they are consenting to and what the risks are”:

[Consumers] have to proactively consent and then, presuming that they have consented, any time they are in their account it says at the top, ‘You’re currently consented to research. Click here if you want to change that consent’. It is very easy to remind them that they are consented and very easy for them to change.270

Carla Newell, Chief Legal Officer and Chief Risk Officer at Ancestry, said that its data-sharing collaborations were also reviewed and transparently communicated on the company’s website.271 Several submissions nevertheless emphasised the difficulty for consumers to know how their data was being used and what risks that might entail.272 The British Pharmacological Society suggested that the “complexity of ethical, legal, and social issues surrounding consent for genomic testing indicate that substantial effort is required to ensure adequate understanding of the test by consumers”, and that “depending on how many of these issues apply, professional genetic counselling may be crucial for obtaining truly informed consent for genomic tests”.273 Dr Andelka Phillips, of the University of Waikato, recommended that regulators publish specific public guidance for direct-to-consumer genomic testing to explain how generic regulation such as the General Data Protection Regulation applied to such testing, referencing the Office of the Canadian Privacy Commissioner’s policy statements as an example.274 She argued that this could “provide the public with access to more independent informational resources to assist them in making informed decisions about whether or not to utilise commercial genomics services”. Regarding the use of genomic data for criminal justice, Dr Matthew Hurles, Head of Human Genetics at the Wellcome Sanger Institute, said that “having clarity from the Government about what the Home Office can and cannot do would, again, help to build trust” with those sharing their data.275

86.With regards to the relevance of an individual’s genomic data for their relatives—one of the main reported differences between genomic data and other forms of personal data when considering privacy and consent—Dr Felicity Boardman, Associate Professor in Medicine, Ethics and Society at Warwick Medical School, wrote that it raised questions about a possible “obligation of disclosure to these relatives” as well as, conversely, the “question of whether biological relatives of [consumers purchasing tests] have the right not to know information about their genetic health”.276 Professor Anneke Lucassen, then Chair of the British Society for Genetic Medicine, agreed that “we need to think more widely about how we let [affected relatives] know, and how we let them know respecting their possible wishes not to know”.277 The Shelford Group, a collaboration between ten of the largest research and teaching NHS trusts in England, suggested that “an individual receiving a genomic test should be aware of their relatives’ wishes prior to testing”.278 A recent court case established the legal responsibilities of healthcare professionals to disclose genetic results to potentially affected family members,279 but it is unclear what responsibilities apply or should apply to other individuals or companies.

87.The Royal Society noted that “as data enhances our analytical capabilities, notions such as consent, privacy and ownership are becoming more difficult to maintain”, and that “as a result, many of the concepts that sit at the core of public confidence in governance are no longer fit for purpose”.280 As one example, it said that the “ability to draw connections between data is now so advanced that approaches to managing privacy, such as deidentification, may no longer apply”.281 The Cancer Genetics Group added that “as the predictive power of genomic data and linked data sets improve, insurance companies may start to become increasingly concerned about premiums”.282 The Nuffield Council on Bioethics argued that technological advances could also, however, help to resolve challenges associated with privacy and consent, suggesting that blockchain technologies could give individuals greater control over the uses of their data.283

88.Various concerns related to privacy and consent regarding data generated by direct-to-consumer genomic tests were raised during this inquiry. Many of these were similar to concerns that have been expressed regarding personal data more generally, although the relevance of an individual’s genomic data to that individual’s relatives was raised as a particular feature of genomic data. Despite data protection legislation and voluntary agreements such as the Code on Genetic Testing and Insurance, the complexity and uncertainty of future uses of genomic data may challenge current procedures for obtaining informed consent. Further, consumers may not benefit from this data protection if they transfer their data or genetic samples out of the UK for processing. As technologies develop and more consumers use direct-to-consumer genomic tests, existing data safeguards may become less effective and the consequences for privacy more significant. The Government should aim for the data protection framework governing genomic data in the UK to be world-leading. It should review the adequacy of the UK’s data protection framework for direct-to-consumer genomic testing, including the risks and opportunities presented by technological developments and growing numbers of consumers using direct-to-consumer genomic tests. The Government should also consider the case for requiring companies providing direct-to-consumer genomic tests to inform consumers, at the point of sale, of the potential consequences of genomic test results for their relatives.

Permitted uses of genomic testing

89.Researchers at Newcastle University suggested to our predecessor Committee that any genomic test worth having would be available to appropriate individuals on the NHS, and that there was therefore no need for health-related genomic testing to be available for purchase by consumers.284 However, Dr Matthew Hurles, Head of Human Genetics at the Wellcome Sanger Institute, and Professor Anneke Lucassen, then Chair of the British Society for Genetic Medicine, acknowledged that there were certain instances in which genomic testing could have clinical benefit but was not offered by the NHS (such as pharmacogenetic testing, which can help determine the most appropriate treatment for an individual).285 For example, Dr Hurles pointed out that the NHS “tries to come to a balance as regards cost-effectiveness”, which could restrict its use of expensive tests with limited but nevertheless real benefit.286 Dr Ron Zimmern, Chair of the PHG Foundation, argued that, whereas the “NHS will necessarily need to be more cautious and more risk averse [than commercial actors]”, to “use that as an excuse to prohibit a more entrepreneurial private sector to implement services that might benefit the population would be misguided and slow down the development of services that might be beneficial”.287

90.Some, such as the Association of Medical Research Charities, questioned the ethics of allowing people to receive results that could cause upset.288 Dante Labs, however, said that “DNA belongs to the individuals” and that “people have the right to learn about their DNA and have the right to choose where to get their DNA analysed”.289 The Minister for Innovation, Lord Bethell, argued that the Government “cannot expect people somehow to be protected from their own genetic data”:

My instincts are that we should not put people in cotton wool on this issue. We allow people to buy their own pensions, get divorced and take exams, the results of which are posted to them in envelopes that are traumatic to open.290

Highlighting particular issues with the genomic testing of children, researchers at Newcastle University that they “would endorse differential regulation for tests with different purposes, with an ‘in principle’ restriction of some tests” being provided directly to consumers.291 Specific examples are discussed below.

Testing children

91.The issue of direct-to-consumer genomic testing on asymptomatic children for conditions that onset in adulthood, and for which no treatments or preventative interventions are available during childhood, was raised in paragraph 23. A 2015 survey of a representative sample of the British population found that more people thought that such testing should be permissible (47%) than should not be (20%).292 However, a range of professional bodies in the UK and internationally, as well as the Human Genetics Commission (a former advisory body to the UK Government), have recommended that such testing should not normally be provided directly to consumers.293 Despite noting some potential benefits of testing for adult-onset conditions in childhood, the European Society of Human Genetics argued, for example, that unless preventative measures were available during childhood, such testing “should be deferred until the person has the maturity and competence to understand the nature of the decision and its implications”:

The risk to relatives, the absence of an effective cure, the potential loss of health insurance, the financial costs of testing and the inability to ‘undo’ the knowledge have been identified as reasons why adults decide not to undergo predictive genetic tests for adult-onset disorders. Considering that minors, far more than their parents, will be living with the repercussions of the test results, there are good reasons that they should be able to decide about the participation in such a genetic test.294

92.The American College of Medical Genetics and Genomics has noted the “wide variation in preferences among adults” with regards to deciding whether or not to obtain a genomic test, and observed that “commentators argue that allowing parents or guardians to test their minor children unfairly pre-empts the future choices of those children” and recommended that genetic testing for late-onset conditions be deferred until adulthood.295 Professor Anneke Lucassen, then Chair of the British Society of Genetic Medicine, observed that “most” adults who initially wanted to have a test for Huntington’s disease (an untreatable genetic condition that manifests in later life) from the NHS ultimately decided against the test once they had had the opportunity to talk it through with a clinical genetics professional.296

93.Genomic testing on children for non-medical purposes, such as aptitude for sport or music, was also referenced in the written evidence (see paragraph 23).297 Researchers at Newcastle University stated that they saw “no benefits in genomic testing of children outside of a healthcare context”.298 Dr Andelka Phillips of the University of Oxford warned of the “dubious validity” of “child talent tests” and argued that they should be banned and that regulators should alert the public about the most problematic services.299

94.Currently, there is no legislation preventing parents from obtaining genomic tests for their children. Some of the largest direct-to-consumer testing companies permit children to take a test provided their parents or guardians consent.300 Researchers from Newcastle University told our predecessor Committee that a “number of direct-to-consumer genomic testing companies specifically encourage the testing of children”.301 Consequently, some submissions called for the rules on testing asymptomatic children to be reviewed. The Shelford Group of NHS Trusts recommended that “asymptomatic children should not be tested” using any genomic tests and DNAfit, a company that sells genomic tests directly to consumers, said that companies should obey the principle of “no direct-to-consumer genetic testing for under-18s”.302 The Nuffield Council on Bioethics recommended that companies should not carry out genomic tests on children that do not meet the criteria of the UK National Screening Committee.303 Among other things, application of these criteria would prevent testing of asymptomatic children for susceptibility to non-serious conditions or those where no effective treatment or intervention is known (such as for Alzheimer’s disease).304

95.Although there is potential for the results of a genomic test to be upsetting, this is not a sufficient reason to prevent consenting adults from using these tests. However, a range of submissions to our inquiry and our predecessor Committee’s inquiry highlighted a potential need for restrictions on direct-to-consumer genomic testing of children. Professional bodies in the UK and internationally have recommended that genomic tests are not provided directly to consumers for the testing of asymptomatic children for adult-onset conditions for which no intervention can be made during childhood. The Government should consider which, if any, genomic tests for asymptomatic children should be able to be provided directly to consumers, including whether there should be a ban on the provision of genomic tests for use on children that do not meet the criteria of the UK National Screening Committee.

Prenatal testing

96.A related class of genomic testing is prenatal testing. Although many of the issues related to prenatal testing are similar to any other form of genomic testing, the ‘moral status’ of a fetus makes termination of a fetus an option that is not applicable for children or adult users. Additionally, diseases may be apparent in a child but not in a fetus, making asymptomatic testing relevant to a wider range of conditions. In particular, the Nuffield Council on Bioethics flagged non-invasive prenatal testing to our predecessor Committee, which is a technique that uses placental DNA circulating in the mother’s blood to obtain genetic data from the fetus without the invasive procedures required for traditional techniques, and the commercial use of which has which has been growing since 2011.305

97.As described in paragraphs 14 and 15, prenatal genomic testing can provide benefits to prospective parents but has also raised concerns related to its ability to influence decisions on terminations of fetuses. The Nuffield Council on Bioethics reported that “research on the views of pregnant women and families with direct experience of genetic conditions has found widespread support for the availability of non-invasive prenatal testing to detect rare genetic conditions”.306 Despite the concerns expressed by some submissions, none explicitly advocated for prenatal testing to be completely banned for consumers.

98.Instead of a ban on all prenatal genomic testing available to consumers, the Nuffield Council on Bioethics recommended that non-invasive prenatal genomic testing “should only be offered for significant medical conditions or impairments that manifest in childhood”, and “normally should not be used to test whether:

Explaining the rationale for this recommendation, the Council said that, in addition to concerns of increased rates of terminations and of removing individuals’ rights to making decisions for themselves as adults:

A further concern is that, given that [the information generated by prenatal testing] usually would not be grounds for termination and would have no clinical use prenatally, offering such tests could be regarded as not meeting the responsibilities of health and social professionals to ensure that all patients receive good care and treatment.308

The Nuffield Council on Bioethics conceded, however, that it was “possible to imagine several exceptions to [its] recommendation”.309 It gave the specific example of a woman or a couple with a family history of an adult onset condition wanting to find out if their fetus would develop the condition, if the condition was extremely serious and manifested in mid-life, if there was no treatment available, and if termination of pregnancy was an option (these criteria are met by Huntington’s disease, testing for which is already available). It argued that the fact that tests were already available should not always provide grounds for the continued provision of testing though, noting that non-invasive prenatal testing to determine sex was already “widely available in the UK through private companies” but recommending that the Government “should require test providers to neither generate nor report [sex determination] information unless there is concern that the fetus may be showing signs of a significant sex chromosome aneuploidy or is at risk of a sex-linked disorder” (on the basis that this could increase the risk of terminations taking place based on the sex of the fetus).310

99.Prenatal genomic testing could influence decisions on terminating fetuses, leading to specific concerns in addition to the issues concerning other types of direct-to-consumer genomic testing. The Government should consider if any restrictions should be placed on the conditions that prenatal genomic tests provided directly to consumers are able to test for.

Regulatory scope

Regulating an international market

100.The PHG Foundation noted that, often, “consumers access test kits via the Internet and access results by email or via a secure site”.311 The Nuffield Council on Bioethics warned that this “international nature of the market raises challenges for policy makers in the UK”.312 Indeed, Graeme Tunbridge, Director of Devices at the Medicines and Healthcare products Regulatory Agency, told us that there was “relatively little in the way of regulation where the test is provided outside the EU”.313 The then Government clarified to our predecessor Committee that this was the case where the genomic sequencing was conducted outside of the European Union, even if the consumer purchased the test and took the sample within it.314

101.The Government should consider requiring any manufacturer making genomic tests available to consumers in the UK to register a legal representative in the UK, with responsibility for ensuring that products supplied to consumers in the UK meet all relevant UK regulatory requirements.

Secondary analysis

102.The Nuffield Council on Bioethics noted that “some companies offer to provide people with raw sequencing data alongside their interpretation of the results”, which allows the consumer to “go to other companies for further interpretation services”.315 Indeed, a 2018 study found that around 67% of consumers who had used a direct-to-consumer genomic test had used a third-party service to re-interpret their sequence data.316 Professor Anneke Lucassen, then Chair of the British Society for Genetic Medicine, expressed her “criticisms” of these secondary analysis services in particular.317 The British Society for Genetic Society explained that consumers could, for example, obtain data from a test intended for ancestry purposes and ask a second company to analyse it for medically-related purposes, despite the unsuitability of the test technology and methodology for that purpose.318

103.Genomic tests sold directly to consumers for medically-related purposes are currently regulated as an ‘in vitro diagnostic medical device’, which the regulations specify means a “medical device which is a reagent, reagent product, calibrator, control material, kit, instrument, apparatus, equipment or system, whether used alone or in combination” (intended to be used for a variety of specific purposes).319 The then Government told our predecessor Committee that these regulations “do not cover the regulation of testing services”.320 The regulations that would have been introduced under the previous Government would have expanded the scope of products covered, explicitly adding “software” to the list of what could constitute an in vitro diagnostic medical device.321 The PHG Foundation said that this could provide “another potential means of oversight”.322

104.As well as companies offering products to consumers that combine genomic testing with analysis of the genomic data obtained through the test, some companies offer secondary analysis of genomic data obtained through a previous genomic test from a different company. There is a potentially increased risk that the testing process used to obtain the genomic data is unsuitable for the analysis performed by a company offering secondary analysis. Despite this, the current regulation may not apply to companies providing secondary analysis of genomic data if their product is not deemed to include the use of physical equipment. The Government should consider extending the definition of products covered by the regulation of genomic tests to include software and other services offering analysis and interpretation of genomic test results obtained from third parties.

133 For example, see: Genomics England, ‘The 100,000 Genomes Project’, accessed 4 January 2020; NHS England, ‘NHS Genomic Medicine Service’, accessed 4 January 2020; HM Government, ‘Industrial Strategy: Life Sciences Sector Deal’ (2017); HM Government, ‘Industrial Strategy: Life Sciences Sector Deal 2’ (2018); HM Government, ‘Genome UK: The Future of Healthcare’ (2020)

134 BioIndustry Association (CGN0068), para 21

135 HM Government, ‘Genome UK: The Future of Healthcare’ (2020), pp56–58

136 For example, see: Cancer Genetics Group (CGN0007) para 3; Association of Genetic Nurses and Counsellors (CGN0008); Clinical Leads of NHS Regional Genetics Services (CGN0013); Academy of Medical Sciences (CGN0021), para 15; PHG Foundation (CGN0023), paras 19–20; British Pharmacological Society (CGN0027), para 6.1; Atlas Biomed Group (CGN0029); British Society for Genetic Medicine (CGN0030); Congenica Limited (CGN0046), section 4c; Nuffield Council on Bioethics (CGN0049), section 2; National Institute for Health and Care Excellence (CGN0067); University of Exeter (CGN0081), paras 2.1–2.5; Roche Products Ltd (COG0004); Letter from Prof Helen Stokes-Lampard to Rt Hon Sir Norman Lamb MP, 7 October 2019

137 The Medical Devices Regulations 2002 (SI 2002/618), regulation 34—see also: Directive 98/79/EC of the European Parliament and of the Council, Article 1(2)(b) and Annex I (the full text specifies that devices must “achieve the performances, in particular, where appropriate, in terms of analytical sensitivity, diagnostic sensitivity, analytical specificity, diagnostic specificity, accuracy, repeatability, reproducibility, including control of known relevant interference, and limits of detection, stated by the manufacturer”)

138 The Medical Devices Regulations 2002 (SI 2002/618), regulations 36 and 40—see also: Directive 98/79/EC of the European Parliament and of the Council, Annexes II, III and IV; British Standards Institute, ‘A guide to the In Vitro Diagnostic Directive’ (2012); Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), paras 53 and 58–59

141 For example, see: 23andMe (COG0002), para 7.2; Dr Ron Zimmern (CGN0020), para 20; National Institute for Health and Care Excellence (CGN0067)

142 23andMe (COG0002), para 7.2

143 Atlas Biomed Group (CGN0029)

144 University of Exeter (CGN0081), paras 1.1–2.5 and Weedon et al., ‘Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation’, British Medical Journal vol 372 (2021)—see also: Cancer Genetics Group (CGN0007), table 1; British Society for Genetic Medicine (CGN0030), sections 4 and 6; Professor Melinda Mills (CGN0044), section 3.2; UK Clinical Genetics Society (CGN0060); NHS Health Education England, ‘Consumer genetic testing: expectation and reality’, published 15 January 2020

145 UK Clinical Genetics Society (CGN0060)

148 Lord Bethell, Parliamentary Under Secretary of State for Innovation (COG0009), Annex A

149 For example, see: Roche Products Ltd (COG0004); BioIndustry Association (COG0005), paras 24–25; Cancer Genetics Group (CGN0007), table 1; Academy of Medical Sciences (CGN0021), para 26; PHG Foundation (CGN0023), para 38; University of Oxford (CGN0026); Atlas Biomed Group (CGN0029); Shelford Group (CGN0037), para 8; European Bioinformatics Institute (CGN0038) and Dr Susie Cooke (CGN0088) and oral evidence taken on 28 October 2019, HC (2019) 33, Q169

150 Dr Susie Cooke (CGN0088)

151 PHG Foundation (CGN0023), para 38—see also: BioIndustry Association (COG0005), para 25; University of Oxford (CGN0026)

152 Oral evidence taken on 28 October 2019, HC (2019) 33, Q107

153 The Medical Devices Regulations 2002 (SI 2002/618), regulation 34—see also: Directive 98/79/EC of the European Parliament and of the Council, Annex I

154 Dr Ron Zimmern (CGN0020), para 30

155 Illumina (CGN0063), para 3.8

156 Dr Ron Zimmern (CGN0020), para 30

158 PHG Foundation (CGN0023), para 18—see also para 35

159 For example, see: British Society for Genetic Medicine (CGN0030), section 7; Professor Melinda Mills (CGN0044), para 3.2; Congenica Limited (CGN0046), sections 1 and 4f; Dr Elizabeth Ormondroyd (CGN0061), para 1

160 For example, see: MRC Human Genetics Unit, University of Edinburgh (CGN0006), para 3; Academy of Medical Sciences (CGN0021), para 15; PHG Foundation (CGN0023), paras 22 and 24; Association of Medical Research Charities (CGN0028), paras 2 and 24; British Society for Genetic Medicine (CGN0030); Shelford Group (CGN0037), paras 3–4; Wellcome Sanger Institute (CGN0039), paras 17–18; Clinical Ethics and Law Southampton, University of Southampton (CGN0041), section 1; Dr Pauline McCormack et al. (CGN0057), section 3; Biochemical Society (CGN0071), paras 3.1–3.2; Christian Medical Fellowship (CGN0083), section 3

161 British Society for Genetic Medicine (CGN0030)

162 National Institute for Health and Care Excellence (CGN0067)—see also: PHG Foundation (CGN0023), paras 18 and 22

163 For example, see: Prenetics International and DNAfit (CGN0035), sections 3 and 7; 23andMe (COG0002), para 3.7 and Oral evidence taken on 28 October 2019, HC (2019) 33, Qq61–62

164 Oral evidence taken on 28 October 2019, HC (2019) 33, Q61

165 For example, see: Everything Genetic Ltd (CGN0005); Congenica Limited (CGN0046), section 4c

166 Professor Timothy Frayling (CGN0080)

167 National Institute for Health and Care Excellence (CGN0067);

168 Dr Ron Zimmern (CGN0020), para 16

172 Dr Pauline McCormack et al. (CGN0057), section 3

174 For example, see: MRC Human Genetics Unit, University of Edinburgh (CGN0006), para 3; Cancer Genetics Group (CGN0007), para 7; PHG Foundation (CGN0023), para 24; British Pharmacological Society (CGN0027), para 5.4; Association of Medical Research Charities (CGN0028), paras 3 and 17; British Society for Genetic Medicine (CGN0030), section 1; Royal College of Physicians of Edinburgh (CGN0036); Wellcome Sanger Institute (CGN0039), para 18; Professor Melinda Mills (CGN0044), para 2.4.1–2.4.2; Genomics plc (CGN0048), para 44; Macmillan Cancer Support (CGN0051); UK Clinical Genetics Society (CGN0060)—As an example of this, Congenica Ltd, a company providing genomic analysis software including to the NHS, pointed to a recent study that found that, whereas a certain gene had previously been associated with a 75% risk of developing diabetes based on its prevalence in families suffering from the disease, data from a broader sample of the population indicated that the risk was more likely under 10%, see: Congenica Limited (CGN0046), section 4c; Wright et al., ‘Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting’, The American Journal of Human Genetics, vol 104 (2019)

175 British Society for Genetic Medicine (CGN0030), section 3—see also: The Royal College of Physicians and the Royal College of Pathologists (CGN0022)

176 Oral evidence taken on 15 October 2019, HC (2019) 33, Q6

177 Cancer Genetics Group (CGN0007), para 3—see also: Association of Genetic Nurses and Counsellors (CGN0008); PHG Foundation (CGN0023), para 19; British Pharmacological Society (CGN0027), para 6.1; Congenica Limited (CGN0046), section 4c; Nuffield Council on Bioethics (CGN0049), section 2; Royal College of General Practitioners and British Society for Genetic Medicine, ‘Position Statement on Direct to Consumer Genomic Testing’ (2019)

179 British Society for Genetic Medicine (CGN0030), section 2—see also, for example: The Royal College of Physicians and the Royal College of Pathologists (CGN0022); PHG Foundation (CGN0023), para 24; Association of Medical Research Charities (CGN0028), para 2; Clinical Ethics and Law Southampton, University of Southampton (CGN0041), section 1; Professor Melinda Mills (CGN0044), para 2.1; Dr Elizabeth Ormondroyd (CGN0061), para 1; UK Research and Innovation (CGN0069), para 4.2.1; Biochemical Society (CGN0071), para 3.1

180 Dr Felicity Boardman (CGN0012), section 3.3—see also: Cancer Genetics Group (CGN0007), para 6; Association of Medical Research Charities (CGN0028), para 4

181 For example, see: British Society for Histocompatibility and Immunogenetics (CGN0024); British Pharmacological Society (CGN0027), para 2.1; Association of Medical Research Charities (CGN0028), para 24; British Society for Genetic Medicine (CGN0030); Shelford Group (CGN0037), paras 3–4; Wellcome Sanger Institute (CGN0039), para 17; Wellcome Genome Campus Connecting Science (CGN0040), section (ii); Clinical Ethics and Law Southampton, University of Southampton (CGN0041); Professor Melinda Mills (CGN0044), para 4.1; The ‘Mind the Risk’ consortium (CGN0045), para B(iii); Dr Pauline McCormack et al. (CGN0057), sections 1, 3 and 5; Dr Elizabeth Ormondroyd (CGN0061), para 1; Christian Medical Fellowship (CGN0083), section 3; Down’s Syndrome Association (CGN0085)

182 Clinical Ethics and Law Southampton, University of Southampton (CGN0041)

183 British Society for Genetic Medicine (CGN0030)

184 Association of Genetic Nurses and Counsellors (CGN0008)—see also: Cancer Genetics Group (CGN0007), para 3; British Society for Genetic Medicine (CGN0030), section 1

185 Shelford Group (CGN0037)—see also: Dr Ron Zimmern (CGN0020), para 11; Association of Medical Research Charities (CGN0028)

186 Cancer Genetics Group (CGN0007), para 3—see also: British Society for Histocompatibility and Immunogenetics (CGN0024); Atlas Biomed Group (CGN0029); Regional Genetics Laboratory (CGN0059), para 4

187 Association of Genetic Nurses and Counsellors (CGN0008)—see also: Clinical Leads of NHS Regional Genetics Services (CGN0013); Mrs Colette Lloyd (CGN0032), section 1(a); Wellcome Genome Campus Connecting Science (CGN0040), section (i); Clinical Ethics and Law Southampton, University of Southampton (CGN0041), section 2; Nuffield Council on Bioethics (CGN0049), section 3

188 For example, see: The Royal College of Physicians and the Royal College of Pathologists (CGN0022); Wellcome Sanger Institute (CGN0039), para 12; Dr Pauline McCormack et al. (CGN0057), section 4; Regional Genetics Laboratory (CGN0059), para 4; Genetic Alliance UK (CGN0062), para 15

189 The Royal College of Physicians and the Royal College of Pathologists (CGN0022)

190 Wellcome Sanger Institute (CGN0039), para 12

191 Kalokairinou et al., ‘Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape’, Journal of Community Genetics, vol 9 (2018)

192 Letter from Prof Helen Stokes-Lampard to Rt Hon Sir Norman Lamb MP, 7 October 2019

193 For example, see: Micropathology Ltd, University of Warwick (CGN0002); Simon Davies (CGN0003); Everything Genetic Ltd (CGN0005); Cancer Genetics Group (CGN0007), para 4; Association of Genetic Nurses and Counsellors (CGN0008); Dr Felicity Boardman (CGN0012), section 1.1; Clinical Leads of NHS Regional Genetics Services (CGN0013); Dr Ron Zimmern (CGN0020), para 10; PHG Foundation (CGN0023), paras 7, 23 and 35; British Society for Histocompatibility and Immunogenetics (CGN0024); British Pharmacological Society (CGN0027), paras 7.2 and 7.5; Atlas Biomed Group (CGN0029); British Society for Genetic Medicine (CGN0030), section 7; Mrs Colette Lloyd (CGN0032), section 1(a); Prenetics International and DNAfit (CGN0035), section 4; Royal College of Physicians of Edinburgh (CGN0036); Shelford Group (CGN0037), para 8; Wellcome Genome Campus Connecting Science (CGN0040), section (i); Clinical Ethics and Law Southampton, University of Southampton (CGN0041), section 2; The ‘Mind the Risk’ consortium (CGN0045), para C(i); Congenica Limited (CGN0046), section 1; Genomics plc (CGN0048), para 53; 23andMe (CGN0050), paras 4.4 and 4.6.1; Christian Action Research and Education (CGN0054), para 6.4; Dr Pauline McCormack et al. (CGN0057), section 4; Regional Genetics Laboratory (CGN0059), para 4; UK Clinical Genetics Society (CGN0060); Genetic Alliance UK (CGN0062), paras 15–16; Ms Kavita Frary (CGN0065), para 4.3; National Institute for Health and Care Excellence (CGN0067); Biochemical Society (CGN0071), paras 4.1–4.4; Down’s Syndrome Association (CGN0085)

194 For example, see: Everything Genetic Ltd (CGN0005); Cancer Genetics Group (CGN0007), table 1; Association of Genetic Nurses and Counsellors (CGN0008); Dr Ron Zimmern (CGN0020), para 10; PHG Foundation (CGN0023), paras 23 and 35; British Society for Genetic Medicine (CGN0030), section 7; Royal College of Physicians of Edinburgh (CGN0036); Shelford Group (CGN0037), para 8; Wellcome Genome Campus Connecting Science (CGN0040), section (i); Genomics plc (CGN0048), para 53; Dr Pauline McCormack et al. (CGN0057), section 4; Regional Genetics Laboratory (CGN0059), para 4; Biochemical Society (CGN0071), para 6.1; oral evidence taken on 15 October 2019, HC (2019) 33, Q15

195 Association of Genetic Nurses and Counsellors (CGN0008)

197 Oral evidence taken on 28 October 2019, HC (2019) 33, Qq84, 120 and 127—see also: letter from Kathy Hibbs to the Science and Technology Committee, 14 January 2020

198 23andMe (COG0002), para 4.6.1

199 Oral evidence taken on 28 October 2019, HC (2019) 33, Qq119–129

200 Oral evidence taken on 28 October 2019, HC (2019) 33, Q129

201 For example, see: Wellcome Genome Campus Connecting Science (CGN0040), section (i); Dr Pauline McCormack et al. (CGN0057), section 4; Nkaarco Diagnostics Ltd (CGN0058), para 6; Genetic Alliance UK (CGN0062), para 15; Biochemical Society (CGN0071), paras 3.2 and 4.1–4.4

205 Oral evidence taken on 15 October 2019, HC (2019) 33, Q49

206 Oral evidence taken on 15 October 2019, HC (2019) 33, Qq29 and 35

207 For example, see: Q46; Dr Ron Zimmern (CGN0020), paras 10 and 37; PHG Foundation (CGN0023), para 23; Royal College of Physicians of Edinburgh (CGN0036); Genomics plc (CGN0048), para 53

208 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), para 6.40

209 Genomics plc (CGN0048), para 53—‘monogenic’ diseases

210 The Medical Devices (Amendment etc.) (EU Exit) Regulations 2019 (SI 2019/791), regulation 11

211 Oral evidence taken on 15 October 2019, HC (2019) 33, Q49

213 Oral evidence taken on 15 October 2019, HC (2019) 33, Q45

214 Oral evidence taken on 15 October 2019, HC (2019) 33, Q29

215 UK Clinical Genetics Society (CGN0060)—see also: oral evidence taken on 15 October 2019, HC (2019) 33, Q29

216 Association of Genetic Nurses and Counsellors (CGN0008)

217 For example, see: Prenetics International and DNAfit (CGN0035), section 4; Royal College of Physicians of Edinburgh (CGN0036); Wellcome Genome Campus Connecting Science (CGN0040), section (i); Dr Pauline McCormack et al. (CGN0057), section 4; Regional Genetics Laboratory (CGN0059)

218 Oral evidence taken on 28 October 2019, HC (2019) 33, Qq84, 120 and 127—see also: letter from Kathy Hibbs to the Science and Technology Committee, 14 January 2020; 23andMe (COG0002), paras 3.8–3.9 and 4.6–4.12

219 The Medical Devices (Amendment etc.) (EU Exit) Regulations 2019 (SI 2019/791)—see also: Regulation 2017/746 of the European Parliament and of the Council, Article 4

220 Q38—see also: Q40

221 Oral evidence taken on 15 October 2019, HC (2019) 33, Q13

222 For example, see: Dr Felicity Boardman (CGN0012), section 3.3; British Society for Genetic Medicine (CGN0030), section 2; Mrs Colette Lloyd (CGN0032); Professor Melinda Mills (CGN0044), section 3.2; Nuffield Council on Bioethics (CGN0049), section 5; Dr Pauline McCormack et al. (CGN0057), section 3; Down’s Syndrome Association (CGN0085); letter from Prof Helen Stokes-Lampard to Rt Hon Sir Norman Lamb MP, 7 October 2019

223 Dr Felicity Boardman (CGN0012), section 1.1

224 Dr Felicity Boardman (CGN0012), section 3.3

225 Letter from Prof Helen Stokes-Lampard to Rt Hon Sir Norman Lamb MP, 7 October 2019 and Dr Pauline McCormack et al. (CGN0057), section 3

226 Oral evidence taken on 15 October 2019, HC (2019) 33, Q15

227 Nuffield Council on Bioethics (CGN0049), section 1—see also: Mrs Colette Lloyd (CGN0032), section 1a; Don’t Screen Us Out (CGN0034), para 6; Dr Pauline McCormack et al. (CGN0057), section 7b; Antenatal Results and Choices (CGN0075), para 3

228 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), paras 1.19, 2.23 and 4.22

229 NHS Health Education England, ‘Direct-to-consumer testing: a clinician’s guide’, accessed 11 May 2021—BRCA refers to certain genes, mutations in which have been associated with an increased risk of developing breast cancer

230 Royal College of Physicians of Edinburgh (CGN0036)

231 British Pharmacological Society (CGN0027), para 4.2

232 The Royal College of Physicians and the Royal College of Pathologists (CGN0022)

233 Advertising Standards Authority, ‘Non-Invasive Prenatal Testing (NIPT)—A look at the ASA’s rulings’, published 16 January 2020

234 Committee of Advertising Practice, ‘Enforcing the rules for ads on prenatal testing’, published 16 January 2020 and Advertising Standards Authority, ‘Non-Invasive Prenatal Testing (NIPT)—A look at the ASA’s rulings’, published 16 January 2020

235 Nuffield Council on Bioethics (CGN0049), section 5

236 For example, see: Mrs Colette Lloyd (CGN0032); Don’t Screen Us Out (CGN0034); Royal College of Physicians of Edinburgh (CGN0036); Nuffield Council on Bioethics (CGN0049); Antenatal Results and Choices (CGN0075), para 3; Down’s Syndrome Association (CGN0085)

237 Antenatal Results and Choices (CGN0075), para 3 and Don’t Screen Us Out (CGN0034), para 1

238 Down’s Syndrome Association (CGN0085)

239 Dr Felicity Boardman (CGN0012), section 3.3

240 Down’s Syndrome Association (CGN0085)

241 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), para 6.8 and Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues—Short Guide’ (2017), p14

242 Antenatal Results and Choices (CGN0075), para 6

243 Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), paras 65–67—see also: Nuffield Council on Bioethics, ‘Care Quality Commission to regulate private providers of non-invasive prenatal testing following Nuffield Council recommendation’, published 8 February 2019

244 Royal College of Obstetricians and Gynaecologists, ‘Care after non-invasive pre-natal testing’, published 31 October 2019

245 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing is starting to get the attention it deserves’, published 23 September 2019

246 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing is starting to get the attention it deserves’, published 23 September 2019

247 23andMe (COG0002), para 4.6.1 and Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), para 36

248 Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), para 40

249 Royal College of General Practitioners and British Society for Genetic Medicine, ‘Position Statement on Direct to Consumer Genomic Testing’ (2019)

250 Nuffield Council on Bioethics (CGN0049), section 3

251 Letter from Prof Helen Stokes-Lampard to Rt Hon Sir Norman Lamb MP, 7 October 2019

252 PHG Foundation (CGN0023), para 38—see also: The Association of the British Pharmaceutical Industry (CGN0066), para 16

253 Letter from Prof Helen Stokes-Lampard to Rt Hon Sir Norman Lamb MP, 7 October 2019

255 NHS Health Education England, ‘Genomics Education Programme: About Us’, accessed 12 May 2021

256 Association of Genetic Nurses and Counsellors (CGN0008)

258 Oral evidence taken on 15 October 2019, HC (2019) 33, Q29

259 The Royal College of Physicians and the Royal College of Pathologists (CGN0022)

260 Cancer Genetics Group (CGN0007), table 1

261 Oral evidence taken on 28 October 2019, HC (2019) 33, Q130

262 Letter from Baroness Blackwood to the Chair of the Science and Technology Committee, 28 January 2020

263 Lord Bethell, Parliamentary Under Secretary of State for Innovation (COG0009)

264 See: European Union (Withdrawal) Act 2018, section 3; Data Protection, Privacy and Electronic Communications (Amendments etc) (EU Exit) Regulations 2019 (SI 2019/419); Regulation 2016/679 of the European Parliament and of the Council, Articles 4 and 9; Data Protection Act 2018—this does not apply if the individual in question is not identifiable from the data held.

265 Oral evidence taken on 28 October 2019, HC (2019) 33, Qq131–144

266 EthicsAndGenetics (CGN0042), para 6 and oral evidence taken on 28 October 2019, HC (2019) 33, Q144

267 HM Government and Association of British Insurers, ‘Code on Genetic Testing and Insurance’ (2018)

268 For example, see: The Royal Society (CGN0019); Nuffield Council on Bioethics (CGN0049), section 4; Dr Pauline McCormack et al. (CGN0057), section 7b

269 Dr Pauline McCormack et al. (CGN0057), section 7b

270 Oral evidence taken on 28 October 2019, HC (2019) 33, Qq137–138

271 Oral evidence taken on 28 October 2019, HC (2019) 33, Qq142–143

272 For example, see: Dr Felicity Boardman (CGN0012), section 3.1; Dr Elizabeth Ormondroyd (CGN0061), section 5

273 British Pharmacological Society (CGN0027), para 7.2—see also: Dr Pauline McCormack et al. (CGN0057), section 7b

274 Dr Andelka Phillips (CGN0025)—see also: ‘Direct-to-consumer genetic testing and privacy’, Office of the Canadian Privacy Commissioner, accessed 25 May 2021

275 Oral evidence taken on 15 October 2019, HC (2019) 33, Q52

276 Dr Felicity Boardman (CGN0012), section 3.2—see also: The Royal Society (CGN0019), para 4; British Pharmacological Society (CGN0027), para 7.1; Association of Medical Research Charities (CGN0028), para 20; Shelford Group (CGN0037), para 19

277 Oral evidence taken on 15 October 2019, HC (2019) 33, Q46

278 Shelford Group (CGN0037), para 19

279 ABC vs St George’s Healthcare NHS Trust, South West London and St George’s Mental Health NHS Trust and Sussex Partnership NHS Foundation Trust, [2020] EWHC 455 (QB)—see also: NHS Resolution, ‘Case of note: ABC v St George’s Healthcare NHS Trust and Others (Court of Appeal, 16 May 2017)’, published 17 August 2017; PHG Foundation, ‘After ABC v St George’s: a new duty to consider’, published 3 March 2020

280 The Royal Society (CGN0019), para 4

281 The Royal Society (CGN0019), para 4

282 Cancer Genetics Group (CGN0007), para 12

283 Nuffield Council on Bioethics (CGN0049), section 4

284 Dr Pauline McCormack et al. (CGN0057), section 1

285 Oral evidence taken on 15 October 2019, HC (2019) 33, Qq10–12 and 54—these included epigenetic testing, prenatal testing for medium-risk pregnancies, pre-conception testing and pharmacogenetic testing. Several commercial providers of genomic testing further argued that there were uses for such testing in a wider range of applications not yet used by the NHS, such as to guide screening for certain diseases—see: Everything Genetic Ltd (CGN0005); Congenica Limited (CGN0046), section 4a; Genomics plc (CGN0048), paras 23–31

286 Oral evidence taken on 15 October 2019, HC (2019) 33, Q10

287 Dr Ron Zimmern (CGN0020), para 28

288 Association of Medical Research Charities (CGN0028), para 22—see also: Macmillan Cancer Support (CGN0051)

289 Dante Labs SRL (CGN0018)

291 Dr Pauline McCormack et al. (CGN0057), section 7

293 British Society for Human Genetics, ‘Report on the Genetic Testing of Children’ (2010); American College of Medical Genetics and Genomics, ‘Technical report: ethical and policy issues in genetic testing and screening of children’, Genetics in Medicine, vol 15 (2013); European Society of Human Genetics, ‘Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes’, European Journal of Human Genetics, vol 18 (2010) and Human Genetics Commission, ‘A Common Framework of Principles for direct-to-consumer genetic testing services’ (2010), principle 6.9

294 European Society of Human Genetics, ‘Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics’, European Journal of Human Genetics, vol 17 (2009) and European Society of Human Genetics, ‘Genetic testing in asymptomatic minors: Background considerations towards ESHG Recommendations’, European Journal of Human Genetics, vol 17 (2009)

295 American College of Medical Genetics and Genomics, ‘Technical report: ethical and policy issues in genetic testing and screening of children’, Genetics in Medicine, vol 15 (2013)

296 Oral evidence taken on 15 October 2019, HC (2019) 33, Q30

297 For example, see: Dr Andelka Phillips (CGN0025); Nuffield Council on Bioethics (CGN0049), section 5; Dr Pauline McCormack et al. (CGN0057), section 7b; Dr Peter Fotheringham (CGN0082), paras 1–2, 7 and 14–16

298 Dr Pauline McCormack et al. (CGN0057), section 7b

299 Dr Andelka Phillips (CGN0025)

300 Ancestry.com, ‘Activating an AncestryDNA® Kit for Your Child’; MyHeritage, ‘Terms and Conditions’ and Family Tree DNA, ‘Terms of Service’, all accessed 11 January 2021

301 Dr Pauline McCormack et al. (CGN0057), section 7b

302 Shelford Group (CGN0037), para 8 and Prenetics International and DNAfit (CGN0035), section 7

303 Nuffield Council on Bioethics (CGN0049), section 5—see also: Nuffield Council on Bioethics, ‘Medical profiling and online medicine: the ethics of ‘personalised healthcare’ in a consumer age’ (2010), para 9.42

305 Nuffield Council on Bioethics (CGN0049), section 1—see also: Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), paras 1.1–1.4; M. Minear et al., ‘Global perspectives on clinical adoption of NIPT’, Prenatal Diagnosis, vol 35 (2015); IMARC, ‘Non-Invasive Prenatal Testing Market: Global Industry Trends, Share, Size, Growth, Opportunity and Forecast 2021–2026’ (2020)

306 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), para 1.27

307 Nuffield Council on Bioethics (CGN0049), section 1—see also: Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), paras 6.4 and 6.12–6.17

308 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), para 6.13

309 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), para 6.14

310 Nuffield Council on Bioethics, ‘Non-invasive prenatal testing: ethical issues’ (2017), paras 6.15–16

311 PHG Foundation (CGN0023), para 36

312 Nuffield Council on Bioethics (CGN0049), section 5

314 Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), para 63

315 Nuffield Council on Bioethics (CGN0049), section 2

316 Wang et al., ‘Consumer use and response to online third-party raw DNA interpretation services’, Molecular Genetics and Genomic Medicine, vol 6 (2018)

317 Oral evidence taken on 15 October 2019, HC (2019) 33, Q15

318 British Society for Genetic Medicine (CGN0030), section 4—see also oral evidence taken on 28 October 2019, HC (2019) 33, Qq79–83

319 The Medical Devices Regulations 2002 (SI 2002/618), regulation 2

320 Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), para 55

321 The Medical Devices (Amendment etc.) (EU Exit) Regulations 2019 (SI 2019/791), regulation 11—see also: Directive 98/79/EC of the European Parliament and of the Council, Article 1; Regulation 2017/746 of the European Parliament and of the Council, Article 2

322 PHG Foundation (CGN0023), para 32




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