Direct-to-consumer genomic testing Contents

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2The benefits and risks of direct-to-consumer genomic testing

10.With the costs of some genomic tests falling significantly in recent years,38 increasing numbers of genomic testing products have been developed and sold to consumers.39 For example, one company, 23andMe, had sold over 250,000 genomic testing kits in the UK as of June 2020 (up from 190,000 in April 2019).40 Over the course of our inquiry and our predecessor Committee’s inquiry, a range of potential benefits and risks associated with direct-to-consumer genomic testing were raised. We discuss these in this Chapter.

Potential benefits and risks

Health benefits and risks

11.Many submissions articulated that genomic testing could provide substantial benefits for health, either currently or in the future.41 A range of health benefits were identified in the evidence, including:

• diagnosing rare genetic conditions that could otherwise take significant time and effort to identify;42
• alerting people to their specific health risks, allowing them to potentially mitigate those risks through changed behaviours or personalised screening;43 and
• indicating the most effective, or least dangerous, treatments for a given patient.44

The Human Genetics Unit at the University of Edinburgh—in line with several others—warned, however, that “although knowledge of the health-relevance of genomic information is increasing, it can still only be used for accurate diagnosis and prediction of disease in limited situations” (some of the challenges for its use are discussed in more detail in Chapter 3).45

12.Despite the promise of genomic testing for health benefits, we also heard of potential risks to physical health arising from tests sold directly to consumers. In particular, the possible consequences of consumers receiving inaccurate or misleading results were highlighted:

• consumers overestimating their risk as a result of a direct-to-consumer genomic test could seek unnecessary treatment or avoid particular activities unnecessarily—the British Society for Genetic Medicine gave the example of a woman receiving a false positive result for predisposition to breast cancer, which could lead to her attempting to arrange for an unnecessary mastectomy;46 and
• consumers underestimating their risk as a result of a direct-to-consumer genomic test could conversely delay seeking medical supervision or persist with risky behaviour due to perceived immunity—the British Pharmacological Society gave the example of an individual deciding to forego a mammogram or a colonoscopy.47

The combination of low public understanding, variable test quality and the complexity of correctly interpreting genomic results led many submissions to argue that the chance of results being inaccurate or misinterpreted was high.48 This is discussed in more detail in Chapter 3.

13.Several submissions also highlighted the potential for direct-to-consumer genomic test results to affect the mental health of consumers.49 Those taking such tests may, for example, discover that they are predisposed to serious or untreatable disease, or uncover unexpected family relations (such as adoption or misattributed paternity).

Informing parental decisions

14.The PHG Foundation referred to the ability for genomic testing to increase the chance of in-vitro fertilisation leading to a successful pregnancy and/or a baby unaffected by an inherited disease, through screening of eggs, sperm or embryos.50 Several submissions noted that genomic testing could also help to inform reproductive decisions, for example by:

• determining if either or both of the parents is a “carrier” for an inherited disease and therefore if a potential child could be at heightened risk of having that disease; or
• determining if a fetus has a genetic condition.51

A range of submissions explained that this information could help prospective parents to decide whether or not to try to conceive, to consider the use of pre-implantation genetic diagnosis or prenatal diagnosis,52 or to continue with a pregnancy and help future parents prepare for a baby with a genetic condition.53 Indeed, the Clinical Leads of NHS Regional Genetics Services described informing reproductive decisions as one of the main benefits that consumers could derive from genomic testing.54 Genetic Alliance UK, a charity representing people affected by genetic disease, said that for many individuals with genetic conditions, “reproductive choice” was one of the few “tools available to address the impact of genetic conditions on their lives”.55

15.Several submissions, however, highlighted ethical issues associated with prenatal genomic testing provided to consumers, in particular its use for informing decisions on terminating pregnancies.56 Some, such as the Christian Medical Fellowship, argued that it could increase the number of fetuses with genetic conditions that are terminated each year and presented this as an inherently negative outcome.57 Don’t Screen Us Out, a campaign group, told our predecessor Committee that prenatal screening for Down’s syndrome had “previously been considered as a way to reduce those being born with Down’s syndrome, and can lead to direct conflict with a now well-developed set of human rights and disability rights”.58 Other concerns included that commercial prenatal genomic testing could lead to increased discrimination against, or reduced support for, those suffering from genetic conditions,59 or facilitate terminations on non-medical grounds, such as gender.60

Impact on the NHS

16.Multiple submissions, in particular from companies providing genomic testing to consumers, argued that its use could ease pressure on the NHS, at least in the longer-term.61 For example, Genomics plc told us that consumer testing might ease demand on healthcare systems by facilitating “early intervention and preventive treatment as well as by empowering the individual to take proactive steps to improve their own health and wellbeing”.62 However, a large number of submissions to our inquiry and to our predecessor Committee’s inquiry expressed concerns that increased uptake of direct-to-consumer genomic testing could increase pressure on the NHS.63 The British Society for Genetic Medicine explained:

Recipients [of results obtained from direct-to-consumer genomic testing] look to the NHS to explore what to do with this information. Additional genetic tests are subsequently performed in NHS laboratories to verify [these] test results [ … ] Surveillance or screening for any risks identified is then often expected from the NHS, yet without appropriately commissioned or NICE recommended pathways to do so.64

In addition to the immediate impact of consumers consulting the NHS following a commercial test result, the National Institute for Health and Care Excellence noted that “false negative results could lead to people being diagnosed at a much later stage of disease or living unhealthier lifestyles in the false belief they are at low risk of disease”, further adding to pressure on the NHS.65 The Royal Colleges of Physicians and of Pathologists argued that the current system provided “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”.66

17.A separate concern was the potential for direct-to-consumer genomic testing to lead to a “two-tier” healthcare system with individuals who could afford such testing obtaining the consequent NHS treatment faster than those who could not afford testing.67 The British Society of Genetic Medicine explained:

People who do not qualify for genomic testing under the NHS (because they do not have sufficient risk factors) will, by virtue of their having a [privately-obtained] test result, displace other people who are at higher risk of disease. These outcomes could mean that there is inequity of access, with those whose income allows for direct-to-consumer testing being able to ‘jump the queue’. Ultimately the provision of commercial genomic testing could lead to greater inequalities in the health system.68

Research benefits

18.Several submissions, including from the Academy of Medical Sciences, highlighted the potential for direct-to-consumer genomic testing to contribute to research that could further the fundamental understanding of genomics as well as help to develop new treatments, diagnostics and genomic testing technologies.69 The European Bioinformatics Institute noted that the larger a genomic dataset, the more useful it becomes for research, as “statistical correlations [ … ] improve”.70 The Wellcome Sanger Institute explained:

Genomic data holds tremendous value for understanding human biology and disease, but an individual genome only has meaning when compared with many other genomes. The larger the pool of comparison genomes the more accurate the insight. Therefore, the ability for researchers and healthcare professionals to compare large genomic datasets is as important as the ability to generate a dataset. Sharing datasets is crucial for maximising the impact of genomic research, innovation and translation into the NHS.71

With many companies offering consumers the option of contributing their genomic data to research projects, direct-to-consumer testing could, submissions to our inquiry argued, potentially provide for larger and more effective databases for research.72

Economic opportunity

19.In 2015, a Government-commissioned study estimated that the global genomics market was worth £8 billion—to which the UK industry contributed £800 million—and that it would grow on average 15% per year.73 In 2017, Arthur D Little, a strategy and innovation consultancy firm, similarly estimated that the global consumer genomic testing market would be $50 billion by 2026.74 The UK is widely seen as a world-leader in genomic research and application,75 partly due to strong Government support for the sector, through initiatives such as the 100,000 Genomes Project, the UK Biobank, the NHS Genomic Medicine Service and the Life Sciences Sector Deals.76 Among others, DNAfit, a UK-based direct-to-consumer genomic testing company, highlighted what it saw as a “compelling opportunity for the UK to emerge as a world-class leader in the development and provision of commercial genomic services”.77 Genomics plc, a genomic analysis company spun out from the University of Oxford, argued that “some current and future UK-based small- to medium-sized enterprises could become global players, and in so doing create massive benefits for individuals’ health, health care systems, and the economy as a whole”.78

20.Some expressed concern, however, that the direct-to-consumer genomic testing products and services offered by certain companies provided little genuine value. For example, Professor Timothy Frayling of the University of Exeter argued that “companies selling diet and lifestyle advice tailored to DNA profiles are merely ‘sexing up’ standard diet and exercise advice to make money from people when there is no evidence of utility of their product”.79

Privacy and consent

21.In addition to explicit risks and opportunities associated with genomic testing for consumers, submissions also referred to issues related to privacy and consent. Examples included that:

• uses of genomic data may be complicated or unknown at the time the data is collected, with companies asking for permission to use genetic data for broad purposes such as ‘research and product development’, challenging the principle of informed consent (whereby the person giving consent understands what they are consenting to);80
• genomic data may be used for controversial purposes, for example for criminal justice, immigration enforcement, or insurance or job applications;81
• genomic samples could be collected and submitted by one individual on behalf of another, without their knowledge or consent;82 and
• commercial collection and storage of data may be vulnerable to security risks, and ownership may change if a company is sold.83

22.The Royal Society, however, noted that “many” of these challenges were “not unique, and [were] common across multiple emerging technologies which involve data capture and analysis”.84 The Association of Medical Research Charities noted that one aspect that distinguished direct-to-consumer genomic testing from many other services involving personal data was the potential for test results to have direct relevance to relatives of the person taking the test.85 The British Society for Genetic Medicine explained that “given sequence data from sufficient people you can predict the sequence data of others”:

For example, if two people in a family provide genomic data, you can deduce that any rare variants present in those two people must also be present in all the relatives who directly connect them.86

The ability for distant relatives to be identified from both individuals’ genetic data, combined with the growing numbers of people taking genomic tests and making their data publicly available, led some, such as Professor Melinda Mills, Professor of Sociology at the University of Oxford, to highlight the potential for genomic testing to erode privacy:

Whenever a relative or distant family member makes their data openly available, they unknowingly share data of their kin as well [ … ] Once a genetic database covers around 2% of the population, almost any person could be matched to up to at least a third cousin level (i.e., people who share a great-great-grandparent).87

Several submissions argued that this could, for example, lead to criminals, sperm donors or research participants being identified as a result of their distant relatives using a genomic test.88 Indeed, there has already been one high-profile case of a serial killer in the USA identified using DNA collected from a distant relative for genealogical purposes.89

23.The use of direct-to-consumer genomic testing to predict future health risks also raised specific questions in relation to consent and the testing of asymptomatic children.90 The Nuffield Council on Bioethics explained that “concerns about genetic testing of healthy children often centre on the child’s right to an open future and their ability to make their own choices later about accessing their genetic information”.91 Another concern regarding the testing of asymptomatic children, highlighted by researchers at Newcastle University among others, was that tests were being advertised for what some considered to be inappropriate purposes, such as to determine a child’s aptitude for sport or arts, with the potential to influence how a child is raised.92

Evidence of benefits and risks

24.The previous paragraphs have discussed mostly hypothetical opportunities and risks associated with genomic tests sold directly to consumers. Robust evidence of either, however, appears to be limited. 23andMe, one of the largest direct-to-consumer providers of health-related genomic testing in the world, referred us to the “year-long voluntary post-market surveillance programme” that it had undertaken in 2015 at the request of the Medicines and Healthcare products Regulatory Agency (MHRA):

25,360 UK customer results were provided during this period, and 6 reports and meetings were held with the MHRA. During this period, there were no reportable complaints, no reportable incidents and no evidence of a negative impact on the NHS.93

However, several submissions described individual occurrences of potential harms arising from genomic testing being offered directly to consumers. Dr Susie Cooke, Head of Medical Genomics at the University of Glasgow, referred to a cancer patient who was considering buying and taking potentially dangerous medication following the results of a commercially obtained test, against the advice of her oncologist.94 Dr Cooke said that this was an “extreme” but “far from unique” example. The Royal College of Physicians of Edinburgh similarly recounted an example of a family who falsely worried that their child was at risk of heart disease following a genomic test, and therefore thought they should give up competitive sport.95

25.Evidence of inaccurate, misleading or poor quality genomic testing being provided to consumers was greater. The British Pharmacological Society cited studies from 2010 and 2013 that found that identical samples submitted to different companies in the USA had led to significantly different results reported back to the consumer.96 Several submissions highlighted a 2018 study published in Genetics in Medicine that found that around 40% of the results reported by some direct-to-consumer testing companies could be incorrect.97 Researchers at the University of Exeter found that for rare variants (such as those associated with breast and ovarian cancer), more than 80% of positive results reported by some direct-to-consumer tests were false positives.98 Commenting more generally, DNAfit, a British company providing genomic tests directly to consumers, told our predecessor Committee that the “information and recommendations made by different companies likely differ substantially, even for the same patient”, which it described as “probably the biggest issue affecting direct-to-consumer genetic testing today”.99 The Clinical Leads of NHS Regional Genetics Services noted that when the NHS conducted testing on individuals following a commercially-obtained result, the re-testing did not always produce the same results as reported from the direct-to-consumer test.100 The Association of Genetic Nurses and Counsellors reported the case of a consumer submitting a sample from their dog without this being detected; the company in question did not refute this allegation.101 Many submissions, including from the British Society for Genetic Medicine, the Academy of Medical Sciences, Atlas Biomed Group and Roche Products, raised concerns over the propensity for health-related genomic tests sold directly to consumers to report false positive, false negative, ambiguous or misleading results.102 Graeme Tunbridge, Director of Devices at the MHRA, described these broad concerns as “legitimate”.103 Some of the potential reasons for these results, as well as some solutions, are discussed in Chapter 3.

26.Related to the variability of genomic test results from different providers, Dr Susie Cooke, a cancer genomics specialist, also highlighted “inconsistency of what genomic alterations are being tested for between the available tests”:

In a recent survey of eight tests (the majority of which are currently only delivered in the US), each of which reports on several hundred genes in the cancer, only 15% of genes tested were common to all eight assays. This suggests that lots of genes are being tested for which there is no consensus that they are relevant to cancer, opening up a maze of rabbit holes for patients and oncologists to get lost in.104

Outside of cancer genomics, Congenica Ltd and the PHG Foundation alleged that one direct-to-consumer tests for Parkinson’s disease and susceptibility to breast cancer did not measure all of the genes of relevance to the condition, which the PHG Foundation said had led to the test “fail[ing] to identify nearly 90% of BRCA mutation carriers”.105

27.Regarding the potential impact of direct-to-consumer genomic testing on the NHS, 23andMe told us that it had found that under 2% of its UK customers had a specific conversation with their general practitioner about their test result in 2019.106 In contrast, Dante Labs said that “many [of its customers] took their results to their physician” (although it argued that “none of these people put a burden on their local healthcare systems”).107 Further, multiple organisations representing NHS professionals, such as the British Society for Genetic Medicine, the Association of Genetic Nurses and Counsellors, Clinical Leads of NHS Regional Genetics Services and the Royal Colleges of Physicians and of Pathologists, reported instances of patients seeking support from the NHS after receiving the results of a genomic test procured privately.108 Antenatal Results and Choices, a charity providing support to families undertaking antenatal screening, said that NHS genetic counselling services were “currently struggling to ‘pick up the pieces’ when women come to them with unexpected or uncertain results from private [prenatal genomic testing]”.109 The Royal College of General Practitioners told our predecessor Committee that there had been a “lack of academic research on how much private screening results are presented to NHS services and the level of burden this presents”, but referenced a 2018 survey of 500 doctors that found that 91% had discussed a private screening result with a patient in an NHS appointment and that just 13% thought that this was a reasonable use of NHS resources (this was not specific to genomic tests).110

28.Identifying the lack of robust evidence on the impact of direct-to-consumer genomic testing on the NHS in its inquiry, our predecessor Committee wrote to the then Parliamentary Under-Secretary of State at the Department of Health and Social Care, Baroness Blackwood, recommending that the Government “monitor the impact of direct-to-consumer genomic testing on NHS resources as the use of such tests grows”.111 In response, Baroness Blackwood said that the Government would “work with the NHS and others to explore how to build the evidence base regarding any potential impact and costs to the NHS arising from direct-to-consumer genetic testing”.112 Five months later, the Minister for Innovation at the Department of Health and Social Care, Lord Bethell, told us that:

Very early exploratory discussion on how such an evidence base could be built have indeed taken place at official level and established that generating robust evidence of impact would require carefully designed survey work to ensure that results were valid.113

However, he said that “since those discussions, the Government’s priority focus has been to manage the COVID-19 pandemic and therefore this work has so far not been progressed and we have not commissioned or conducted an independent assessment”.

The case for updated regulation

29.In light of these concerns, many submissions to our inquiry and our predecessor Committee’s inquiry expressed support for updated or strengthened regulation of direct-to-consumer genomic testing, to raise standards, protect consumers and the NHS, and improve consumer trust in the sector.114 In addition to clinical professional organisations, academics, charities and think tanks, this included companies providing genomic tests for consumers as well as related industry bodies.115 For example, the Association of the British Pharmaceutical Industry told us that the “development and evolution of a regulatory framework for commercially available tests” was “important, to assure consumers of the validity of the test results”.116

30.Arguing against updating regulations, Nkaarco Diagnostics, a company providing lifestyle genomic tests directly to consumers, told our predecessor Committee that it was “too late to bring in new regulations to restrict testing”.117 Other companies instead warned against disproportionate regulation.118 For example, DNAfit said that, while it supported the establishment of a “strict code of conduct to govern the safe applications and interpretation of genomic testing”, the Government should “avoid red tape and over-regulation that may limit the ability to foster a sense of discovery and research”.119 Conversely, the Biochemical Society noted that there was an “opportunity for the UK to build a reputation for quality and robustness in genomic testing”, and argued that achieving this would “require government regulation to ensure that quality is maintained”.120 The Wellcome Sanger Institute noted that “commercial tests vary greatly in quality and cost and the results are variable among different companies”, suggesting that the current lack of regulation or guidance made it difficult for “consumers to distinguish between quality healthcare products and pseudoscientific claims”.121 Dr Matthew Hurles, Head of Human Genetics at the Wellcome Sanger Institute, additionally suggested that “many of the companies would like some regulation” to provide a “bar that they know they need to hit”.122

31.Several submissions emphasised the different types of genomic tests available, and argued that any regulations should recognise this variety.123 Conversely, Dr Ron Zimmern, Chair of the PHG Foundation, noted that “many [ … ] direct-to-consumer services exist in other forms of medicine” and argued that “genetic services should not be treated any differently”:

Should it be deemed necessary to regulate the direct-to-consumer service sector in health, it should be done across the board. There is no rational reason why genetic services used to predict disease should be regulated in a different way to the use of biochemistry or other modalities of testing.124

32.Prior to the Government’s decision to revoke aspects of the Medical Devices (Amendment … ) (EU exit) Regulations 2019, the UK was due to implement a new regulatory framework for in-vitro diagnostic devices, including genomic tests, from May 2022 (see paragraphs 5–6).125 The then Government told our predecessor Committee that the new framework that it had planned to introduce would have “drive[n] a much greater scrutiny [of commercial genomic tests] by Notified Bodies”.126 The National Institute for Health and Care Excellence similarly said that these planned regulations “should provide reassurance on a test’s reliability and accuracy”,127 while the Nuffield Council on Bioethics told our predecessor Committee that it had “been suggested that [the planned regulations] would be a step towards manufacturers becoming more responsible for the clinical utility of their devices”.128 Graeme Tunbridge, Director of Devices at the Medicines and Healthcare products Regulatory Agency (MHRA), observed that the “amount of work and effort that went into the revision of legislation at EU level pointed to the need to revise what is currently in place”.129 He added that the MHRA had been “heavily involved” in the design of the revised European legislation, and that the “UK was one of the most influential member states when it came to shaping what came out at the end”.130

33.In its national strategy for genomics, published in September 2020, the Government acknowledged the importance of maintaining public trust in genomics and said that it would “establish a gold standard UK model for how to apply strong and consistent ethical and regulatory standards”.131 However, when it revoked the previously planned strengthening of regulations, the Government committed only to consulting on and publishing future regulations for Great Britain at a “later date”.132

34.A range of benefits and concerns have been raised regarding the availability of genomic testing for direct purchase and use by consumers. These apply to all types of genomic tests, but are arguably most acute for tests used for medically-related purposes. Despite concerns around direct-to-consumer tests existing for many years, evidence of harm has mostly not been systematically collected and is limited. As direct-to-consumer genomic testing becomes more widespread and covers a greater variety of conditions, evidence of positive impacts and harms may grow. We have heard calls for updated regulation of direct-to-consumer genomic testing. While the Government has acknowledged the importance of maintaining public trust in genomics and said that it would “establish a gold standard UK model for how to apply strong and consistent ethical and regulatory standards”, it has committed only to consulting on and publishing future regulations for Great Britain at a “later date”. The Government should set out a specific timeframe in which it intends to review the case for introducing new regulations for genomic tests provided directly to consumers (‘direct-to-consumer genomic tests’).