The human genome is the entire sequence of an individual’s DNA and is found in almost every cell in the human body. Genomic testing refers to techniques for measuring all or part of this DNA sequence. With the costs of some genomic testing technologies falling significantly in recent years, increasing numbers of genomic testing products have been developed and sold to consumers. These products are typically aimed at providing information about genealogy and ancestry, health, or ‘lifestyle’ (ranging from dietary advice to earlobe type). One company, 23andMe, had sold over 250,000 genomic testing kits in the UK as of June 2020.
Following a public call for inquiry suggestions, our predecessor Committee launched an inquiry looking at genomic tests sold directly to consumers based on a proposal from the Nuffield Council on Bioethics. We took forward this inquiry. 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. These included potential benefits and risks for personal health, opportunities for research and economic growth, considerations of the possible impact on the NHS, and issues related to privacy and consent. Many, but not all, submissions to the inquiries argued that the existing regulations for direct-to-consumer genomic testing should be updated to seize some of these opportunities and address some of the concerns. 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”.
In this Report, we discuss the main opportunities and risks of direct-to-consumer genomic tests in more detail, as well as the available evidence for both. We then present some of the main proposals discussed in the oral and written evidence for seizing opportunities and addressing risks, focusing on testing used for medically related purposes.
Firstly, we recommend that the Government should require direct-to-consumer tests to be subject to greater pre-market assessment by an external body. Currently, most providers are able to self-declare their products’ conformity with the existing regulations, which the Medicines and Healthcare products Regulatory Agency suggested restricted its ability to ensure that genomic tests on the UK market provided reliable results. We suggest that any such external assessment should cover the test’s clinical performance (the extent to which a test can provide information about diagnosis, treatment, management or prevention of disease that will lead to an improved outcome), as well as its analytical performance (how well a test predicts the presence or absence of a particular gene or genetic change)—which is the focus of requirements on direct-to-consumer genomic tests currently.
Secondly, we propose that 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 development of such standards, which manufacturers of direct-to-consumer genomic tests could voluntarily meet, could: 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. They could also provide the means for consumers to discern tests of high quality.
Next, we recommend that the Government should consider the case for amending the current regulation of direct-to-consumer genomic tests to revise the requirements on information and support provided to consumers. This could include requiring companies to inform consumers of the potential consequences of genomic test results for their relatives, or requiring external assessment of the information provided about the tests and results provided, including, for example, studies of consumer understanding. Medical supervision or the provision of genetic counselling could also be required for at least some types of genomic testing offered directly to consumers. The 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.
The Government should aim for the data protection framework governing genomic data in the UK to be world-leading. With technologies developing and more consumers using direct-to-consumer genomic tests, existing data safeguards may become less effective and the consequences for privacy more significant. The Government 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.
We also recommend that the Government should consider if any restrictions should be placed on the types of genomic tests that should be available directly to consumers for use on asymptomatic children or for prenatal testing. For example, the Government may wish to consider banning the provision of genomic tests for use on children that do not meet the criteria of the UK National Screening Committee.
Finally, we recommend that the Government should consider the scope of regulation of direct-to-consumer genomic testing, specifically with respect to companies selling testing products to UK consumers but conducting testing outside of the UK, and companies offering analysis of genomic data obtained by third parties.