Direct-to-consumer genomic testing Contents



The human genome

1.The genome is the entire sequence of an organism’s DNA.1 A human genome contains 3.2 billion ‘letters’ (building blocks) of DNA and is found in almost every cell in the human body.2 Around 99.8% of each person’s genome is the same as every other person’s, but the remaining 0.2% (around 3–4 million letters) is unique to each individual.3 Genomics England describes the human genome as the “instructions for making and maintaining” a human body.4 The genome contains the body’s genes, short sections of DNA that control the growth and development of the body’s cells (the 20,000 genes in the human genome account for around 1% of the total DNA present).5

2.Some diseases, such as Huntington’s disease and cystic fibrosis, are directly caused by mutations in a single gene.6 Anyone who carries the relevant gene mutation is at very significant risk of developing the disease (if they have not already).7 For most common diseases, however, a person’s genomic sequence is just one factor that influences the likelihood of developing the condition. Although there are certain genetic factors that can considerably affect the likelihood of developing a disease,8 the British Society for Genetic Medicine explained that “for most common diseases the genetic contribution is relatively modest and incompletely understood”.9 Other factors such as lifestyle (such as diet or exercise), environmental exposure (such as smoking or exposure to pollutants) and random events (such as the impact of ionising radiation) can have a greater influence over disease susceptibility than genetic factors.10

3.Almost all of a person’s genome is inherited from their mother and father (some random mutations can occur around the time of conception, causing genetic mutations not inherited from either parent).11 Some DNA always passes down the maternal line and some always passes down the paternal line,12 but the majority of the genome is inherited randomly from each parent’s ancestors.13 With regards to health impacts, some gene sequences do not affect the individual who has them, but may affect their future children.14 People with such gene sequences are said to be ‘carriers’ of that genetic condition.

Commercial genomic testing

4.Genomic testing refers to techniques for identifying the content of an individual’s DNA, ranging from specific parts of the genome through to whole genome sequencing.15 Based on the characteristics of the human genome as described in the previous section, genomic tests are typically used for one of three main purposes:


5.A range of different regulations currently apply to genomic tests sold to consumers, including:

6.Significant changes to the regulation of genomic tests with medical applications were planned by the previous Government. The European Union introduced the new ‘in vitro diagnostic medical device’ regulation (IVDR) in 2017, which is due to apply fully from May 2022.29 The previous Parliament passed the Medical Devices (Amendment … ) (EU exit) Regulations 2019, which would have caused the UK to adopt essentially the same regulations from May 2022.30 However, the Government has since introduced the Medical Devices (Amendment … ) (EU exit) Regulations 2020 that “revokes the [ … ] IVDR provisions for Great Britain, that would have been implemented” under the previous legislation.31 As a result of these new regulations, the regulatory framework for commercial genomic tests will remain essentially as it is currently, but with the MHRA established as an independent regulatory body outside of the EU framework and provisions made to implement the Northern Ireland Protocol of the Withdrawal Agreement.32

Our inquiry

7.In the previous Parliament, our predecessor Committee invited the public to suggest potential inquiries for its future work programme as part of its My Science Inquiry work.33 The Nuffield Council on Bioethics proposed an inquiry into commercial genomics, which was subsequently selected by our predecessor Committee to be taken forward as an inquiry.34 This inquiry focused on genomic tests sold directly to consumers (‘direct-to-consumer genomic tests’), not those used in the healthcare system. This original inquiry ended prematurely as a result of the 2019 General Election, having received over 80 written submissions and after holding two oral evidence sessions.35

8.We therefore decided to take forward an inquiry into direct-to-consumer genomic testing, launching a call for additional and updated evidence on 9 April 2020.36 We published eight pieces of further written evidence and took oral evidence from four witnesses including the Minister for Innovation at the Department of Health and Social Care, Lord Bethell. To assist us in our work, we appointed Professor Frances Flinter, Emeritus Professor of Clinical Genetics at Guy’s and St Thomas’ NHS Foundation Trust, as a Specialist Adviser for our inquiry.37 We are grateful to everyone who contributed to our inquiry, as well as to our predecessor Committee’s inquiry.

9.In this Report, we review the hopes and concerns surrounding genomic tests sold directly to consumers, as well as the main regulatory changes suggested during the inquiry. Specifically:

1 ‘The 100,000 Genomes Project’, POSTnote 504, Parliamentary Office of Science and Technology, September 2015

2 Department of Health, ‘Annual Report of the Chief Medical Officer 2016: Generation Genome’ (2017), Chapter 1

3 Department of Health, ‘Annual Report of the Chief Medical Officer 2016: Generation Genome’ (2017), Chapter 1

4What is a genome?’, Genomics England, accessed 19 July 2019

5Overview: Genetics’, NHS, accessed 23 July 2019 and ‘The 100,000 Genomes Project’, POSTnote 504, Parliamentary Office of Science and Technology, September 2015

6 ‘Consumer Genetic Testing’, POSTnote 407, Parliamentary Office of Science and Technology, March 2012—see also: UK Research and Innovation (CGN0069), paras 2.2–2.3

7Monogenic diseases’, World Health Organisation, accessed 22 July 2019

8 Dr Ron Zimmern (CGN0020), para 13 and Professor Melinda Mills (CGN0044), para 2.1

9 British Society for Genetic Medicine (CGN0030), section 2

10 See: Micropathology Ltd, University of Warwick (CGN0002); Cancer Genetics Group (CGN0007), para 6; Association of Genetic Nurses and Counsellors (CGN0008); The Royal College of Physicians and the Royal College of Pathologists (CGN0022); PHG Foundation (CGN0023), para 24; British Society for Genetic Medicine (CGN0030), sections 2 and 3; Prenetics International and DNAfit (CGN0035), sections 3 and 7; Clinical Ethics and Law Southampton, University of Southampton (CGN0041), section 1; Professor Melinda Mills (CGN0044), section 2; Dr Pauline McCormack et al. (CGN0057), section 5; Dr Elizabeth Ormondroyd (CGN0061), para 1; BioIndustry Association (CGN0068), para 40; UK Research and Innovation (CGN0069), paras 2.2–2.3 and 3.1; 23andMe (COG0002), para 4.5.1

11 NHS, ‘Overview: Genetics’ and ‘Genetic inheritance’, both accessed 23 July 2019—mutations can also occur after conception, these would be detectable only in cells derived from the cell in which that original mutation occurred (and may therefore be limited to a particular organ, for example)

12 Specifically, the Y chromosome is passed down from a father to a son and mitochondrial DNA is always inherited from the mother—International Society of Genetic Genealogy (CGN0010), Annex 1

13Principle of independent assortment’, Nature Education, accessed 24 July 2019

14What can participants find out?’, Genomics England, accessed 23 July 2019

15 PHG Foundation (CGN0023), para 10

16 International Society of Genetic Genealogy (CGN0010)

17 For example, see: ‘AncestryDNA’, Ancestry; ‘MyHeritage’, MyHeritage; ‘Family Finder’, Family Tree DNA; ‘Full Ancestry Kit’, Living DNA—all accessed 12 March 2020

18 National Institute for Health and Care Excellence (CGN0067)

19 PHG Foundation (CGN0023), para 10

20 NHS Health Education England, ‘70 years of genetics and genomics in healthcare’, accessed 16 April 2021 and NHS, ‘The NHS Long Term Plan’ (2019)

22 Oral evidence taken on 28 October 2019, HC (2019) 33, Q56

23 For example, see: ‘Health Fit’, DNAfit; ‘What makes you unique?’, Orig3n; ‘Whole Genome Sequencing Test’, Dante Labs; ‘Health and Wellbeing Tests’, EasyDNA—all accessed 12 March 2020

25 European Union (Withdrawal) Act 2018, section 3 and Data Protection, Privacy and Electronic Communications (Amendments etc) (EU Exit) Regulations 2019 (SI 2019/419)

26 Human Tissue Act 2004, section 45

27 Committee of Advertising Practice, ‘The UK Code of Broadcast Advertising’ and ‘The UK Code of Non-broadcast Advertising and Direct & Promotional Marketing’ (2014)—see also: The Business Protection from Misleading Marketing Regulations 2008 (SI 2008/1276) and The Consumer Protection from Unfair Trading Regulations 2008 (SI 2008/1277)

28 The Medical Devices Regulations 2002 (SI 2002/618) and Directive 98/79/EC of the European Parliament and of the Council

29 Regulation 2017/746 of the European Parliament and of the Council

30 The Medical Devices (Amendment etc.) (EU Exit) Regulations 2019 (SI 2019/791)—the then Government told our predecessor Committee that the UK regulations would “transpose all the key elements contained in the EU IVDR”: Department of Health and Social Care and the Department for Business, Enterprise and Industrial Strategy (CGN0053), para 57

31 The Medical Devices (Amendment etc.) (EU Exit) Regulations 2020 (SI 2020/1478), regulation 3 and Schedule 2, para 55; and Explanatory Memorandum to the Medical Devices (Amendment) (EU Exit) Regulations 2020, para 7.19

32 Explanatory Memorandum to the Medical Devices (Amendment) (EU Exit) Regulations 2020, paras 2.3–2.7, 6.5–6.6 and 7.9–7.25—see also: HM Government, ‘Agreement on the withdrawal of the United Kingdom of Great Britain and Northern Ireland from the European Union and the European Atomic Energy Community’ (2019), Protocol on Ireland/Northern Ireland

33Committee calls for ideas from the public’, House of Commons Science and Technology Committee, accessed 19 July 2019

34 Written evidence submitted to the Science and Technology Committee on 17 December 2018, HC 1716 (MSI0066) and Science and Technology Committee, Sixteenth Report of Session 2017–19, ‘My Science Inquiry’, HC 1716, para 5

35 House of Commons Science and Technology Committee, ‘Commercial genomics inquiry—publications’, accessed 12 May 2021

36 House of Commons Science and Technology Committee, ‘Science and Technology Committee launches three new inquiries’, published 9 April 2020

37 Professor Frances Flinter declared her interests on 24 June 2020: Emeritus Professor of Clinical Genetics, Guy’s and St Thomas NHS Foundation Trust; Council Member of the Nuffield Council on Bioethics; Trustee of Alport UK, Progress Educational Trust, Friends of Guy’s and St Thomas’ Hospitals, Amadeus Chamber Orchestra and European Doctors’ Orchestra; occasional work for Guy’s and St Thomas’ , the Human Fertilisation and Embryology Authority (paid) and scientific journals (unpaid).

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