As an indicator of how genomics is breaking out of the world of hospital-based clinical care, and onto the high street, the past few years have seen a rapid growth in the popularity of genetic and genomic test kits. This ‘direct-to-consumer’ (DTC) genomic testing has many implications for individual experiences, as well as healthcare provision, regulation and policy, and was initially selected as a topic for an inquiry in the UK by the House of Commons Science and Technology Committee in 2019.
Wellcome Connecting Science’s Head of Society and Ethics Research, Professor Anna Middleton, gave evidence to the Committee in 2019, alongside the Wellcome Sanger Institute’s Head of Human Genetics, Dr Matthew Hurles. At the time, Professor Middleton was also the Chair of the Association of Genetic Nurses and Counsellors, and provided perspectives on genetic counselling and communication. After an interruption by an election, the inquiry resumed in 2020, and has recently published its findings.
The Committee’s report outlines the main opportunities and risks of direct-to-consumer genomic testing, and makes a number of recommendations based on the evidence submitted by over 70 stakeholder organisations, as well as those of witnesses such as Professor Middleton.
We are pleased to see that their report recommends 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.”
This recommendation highlights two areas, which we are very interested in exploring further – public awareness and understanding, and skills and workforce planning.
We, and others, provided evidence around the marketing and advertising of DTCs, and how these messages might be understood by public audiences in a context where a broad awareness of genomics both globally and in the UK, is already very low.
And secondly, the provision of genetic counselling services can only occur realistically occur when there is the capacity to deliver it. We have contributed to workforce planning within the NHS, and advocated the need for all healthcare professionals to have a level of ‘genomic expertise’, irrespective of their discipline, as genetic and genomic medicine moves forward. There will undoubtedly be a demand for more genetic counsellors in the future, but we are also clear that they may not be needed in all circumstances.
“ Genetic counsellors don’t need to be a gatekeeper for all genetic tests in all settings, but they can support people who need help with making sense of what a genetic test result means, emotionally and practically. It is heartening to see their role acknowledged by the Committee’s report, and we look forward to the Government’s response.
Professor Anna Middleton, Head, Society and Ethics Research, Wellcome Connecting Science
Our Society and Ethics Research and Courses and Conferences teams are actively working across understanding how public audiences make sense of communications about genomics, and skills development for genetic counsellors and other healthcare professionals. And this report is just one indicator of the relevance of our work, if we want society to be able to benefit from genomics equitably.