Direct-to-consumer genomic testing Contents

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1Introduction

Genomics

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:

• Genomic tests sold directly to consumers are most commonly used for genealogical purposes.16 Such tests are typically advertised as being able to provide information about genetic ethnicity or to identify existing relatives who have also used the product.17
• Genomic testing can be used for a variety of health-related purposes. It can be conducted on patients exhibiting signs of disease (“symptomatic” individuals) to provide or confirm a diagnosis, or to guide treatment (if treatment exists).18 Genomic testing can also be conducted on “asymptomatic” individuals—those not exhibiting any sign of disease. This is usually done to estimate a person’s predisposition to developing different conditions in later life. Other medical applications of genomic testing include “carrier testing”, which prospective parents can use to assess the risk of passing on an inherited disease, and prenatal testing, which screens fetuses for certain genetic conditions prior to their birth.19 The NHS has offered a growing variety of genomic tests for many years and plans to continue making increasing use of genomics,20 but health-related genomic tests are also available for purchase by consumers.21
• A third class of genomic tests available to consumers is sometimes known as ‘wellness’ tests.22 These are intended to provide information related to an individual’s physical wellbeing or lifestyle. For example, tests are being advertised as providing genetically-tailored diets or exercise plans.23

Regulation

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

• the Consumer Protection Act 1987 and the Consumer Rights Act 2015 (which require products or services sold to consumers to be fit for purpose, as described and meet certain minimum standards, covering aspects such as quality and safety);24
• the UK General Data Protection Regulation (which covers the collection, storage and use of data);25
• the Human Tissue Act 2004 (which effectively bans DNA analysis without appropriate consent);26
• the Advertising Codes (which ban adverts that are misleading, harmful, offensive or irresponsible, and are enforceable under the Consumer Protection from Unfair Trading Regulations 2008 and the Business Protection from Misleading Marketing Regulations 2008);27 and
• for commercial genomic tests with a medical purpose, the Medical Devices Regulations 2002 (which set out essential requirements for in-vitro diagnostic devices placed on the market, such as requirements on safety for users and for performance to match the manufacturers’ claims).28

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:

• In Chapter 2, we set out the potential benefits and risks of direct-to-consumer genomic tests, and examine the available evidence for either; and
• In Chapter 3, we summarise the proposals made to ourselves and our predecessor Committee for regulatory changes, focusing on medically-related direct-to-consumer tests.