Calls to review regulation of direct-to-consumer genetic testing
22 June 2021
The House of Commons Science and Technology Committee has released a new report calling for the UK Government to update existing regulations for direct-to-consumer (DTC) genetic and genomic tests.
The Direct-to-consumer genomic testing report is the result of an inquiry on Commercial Genomics launched in 2019, and interrupted by the December 2019 General Election. The inquiry was prompted by the rapid rise in genomics-based tests sold directly to the public, typically offering information about ancestry, health and fitness, and also being used in the context of reproductive treatments.
The PHG perspective
The PHG Foundation submission to the original inquiry firmly recognised NHS genomic testing as the gold standard for serious diseases, but also spoke of the value of commercial testing in supporting both technological innovation and also health promotion and disease prevention for individual consumers. Health-linked DTC genomic testing presents many potential risks, especially where the testing relates to more serious medical conditions, but it can also offer clear benefits, such as access to some clinically useful tests that may not be readily available via the NHS.
The main problem with DTC genomic testing in our view was the significant variation in quality and utility between different products and services, and the difficulty for consumers in assessing standards and uses, prompting the need for appropriate and proportionate regulation.
In particular, we called for regulation that would ensure consumer protection in the form of adequate counselling and consent processes; compliance with relevant legal frameworks for data protection; and clear and comprehensible information on test performance, scientific and clinical validity, and clinical meaning and utility. For this last point we recommended a proportionate approach with the most stringent requirements for testing with the potential to deliver clinically significant information.
To reduce the burden on the NHS, we also called for the development of NHS standards that commercial test developers could comply with to make integration of test results into NHS patient records possible, and for clear guidance for NHS professionals on when and how commercially obtained testing results should be considered.
Recommendations for the UK Government
The new report recommends a number of measures directly in line with our proposals:
- Pre-market assessment of DTC tests by an independent body, to include assessment of clinical as well as analytical performance.
- Development of technical standards for DTC genomic testing, enabling the data generated to be used and relied upon by Genomics England and the NHS and consumers to differentiate high quality, trustworthy products from those with lower standards
- Considering whether to revise regulation regarding the advice and support offered when supplying genomic testing directly to customers. This could, for example, include a requirement for provision of genetic counselling depending on the severity of the condition being tested, and stipulate the predictive power of the test alongside results.
- Review of UK data protection frameworks for DTC genomic testing
- Considering potential restriction of the types of DTC genomic tests for prenatal testing or the testing of asymptomatic children
- Examining the scope of DTC genomic testing regulation – especially where the testing takes place outside of the UK, and analysis of genomic data obtained by third parties.
Prenatal testing was an area of particular concern for many respondents to the inquiry, and the report specifically suggested that the Government should take special care in reviewing the requirements for information provision for DTC prenatal genomic testing, to ensure it is accurate, balanced and non-directive in nature.
Similarly, DTC genomic testing of children was another area of focus, especially for the risk of adult-onset conditions, in the light of the long-term implications of test findings and the ability of children to give appropriately informed consent to such testing. The report advises the Government to consider banning any such tests that do not meet National Screening Committee criteria.
The bigger picture for genomics
The Science and Technology Committee have produced an excellent result. Their report firmly recognises both the potential and the pitfalls of commercial DTC genomic testing for health, and for the NHS, and makes robust recommendations to leverage the benefits and minimise the burdens.
The necessity of ensuring that testing for significant health conditions produces accurate, reliable and clear results was perhaps the most important issue tackled; some commercial genetic tests produce results that differ from clinical standard testing findings (ie. they are almost certainly incorrect) – one case quoted was of a consumer who submitted a sample from their dog for commercial analysis, without this being detected! The dangers for consumers of ‘false positive, false negative, ambiguous or misleading results’ were noted by the report.
It also recognised the value of NHS approved standards for health-related testing in not only protecting consumers and NHS resources (for example, from having to repeat testing) but also in supporting data sharing for ongoing research. The government is accordingly directed to work with the NHS and with Genomics England – the Department of Health and Social Care owned commercial arm of healthcare genomics - to develop standards that would enable them to use genomic data from approved commercial tests. This is in line with existing efforts to make the most of genomics for health and to make the most of data for research for health.
Genomics England are leading major public engagement efforts around genomics, including on possible plans for sequencing newborn babies, so they may take particular note of the report’s calls for reconsideration of guidance on the use of genomic testing in asymptomatic children.
Overall, the recommendations are effectively practical proposals to help the UK Government meet its often stated aim to make the UK a world leader in genomics – so it would be well advised to take careful note and incorporate these proposals into ongoing activity, especially the National Genomic Healthcare Strategy.