Direct-to-consumer genomic testing Contents

Conclusions and recommendations

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

1.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’). (Paragraph 34)

Supporting a responsible direct-to-consumer genomic testing industry

2.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. (Paragraph 37)

3.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. (Paragraph 41)

4.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. (Paragraph 44)

5.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. (Paragraph 47)

6.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. (Paragraph 53)

7.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. (Paragraph 64)

8.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. (Paragraph 71)

9.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. (Paragraph 72)

10.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. (Paragraph 76)

11.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. (Paragraph 79)

12.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. (Paragraph 82)

13.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 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. (Paragraph 88)

14.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. (Paragraph 95)

15.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. (Paragraph 99)

16.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. (Paragraph 101)

17.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. (Paragraph 104)

Published: 22 June 2021 Site information    Accessibility statement