Assess regulations for commercial genomic sequencing, MPs demand

The falling cost of genome sequencing has led to an increasing choice of affordable, direct-to-consumer genomic testing for people looking for information on their health, lifestyle, genealogy and ancestry. These tests can sequence all or part of the human genome.

One company, 23andMe, had sold more than 250,000 genomic testing kits in the UK as of June 2020.

The MPs acknowledged the benefits of accessible genomic testing, such as the diagnosis of rare genetic conditions, alerting customers to raised risk of certain conditions, and potentially supporting research into new treatments and technologies.

However, the committee warned that there is the possibility of a “two-tier” healthcare system in which people who can pay for genomic testing can seek treatment faster than those who cannot afford to do so. The personalised medicine approach – which can include genomic sequencing amid a raft of other tests – is still emerging and generally only available via private clinics. The MPs also investigated concerns around privacy regarding these companies holding and potentially sharing such personal data as a customer’s DNA. People may not understand what they are consenting for their data to be used for, such as criminal justice.

However, they concluded that there is limited evidence over such “hypothetical opportunities and risks” associated with consumer genomic testing, highlighting that evidence of harm has mostly not been collected systematically over the years the service has been available.

In September 2020, the government said in its genomics strategy that it would “establish a gold standard UK model for how to apply strong and consistent ethical and regulatory standards”. The MPs have recommended how such standards could be set to help consumers identify the best products and services.

They say an independent body should be assigned responsibility for the pre-market assessment of these tests’ clinical performance: the extent to which they can reliably provide information about diagnosis, treatment, prevention, and prognosis of genetic conditions. At present, most providers self-declare if their product conforms to existing regulations; the Medicines and Healthcare products Regulatory Agency said this restricts its ability to ensure genomic tests provide reliable results. External assessment should cover not just clinical performance, MPs said, but also analytical performance (how well a test predicts the presence or absence of a particular genetic feature).

The committee’s report also called for clearly defined testing technical standards such that direct-to-consumer test data can be used by Genomics England and the NHS to support research and reduce the need for the NHS to re-test people after having their genome sequenced privately.

It also recommended requiring genomic testing companies to inform customers of the potential consequences of test results for their relatives, and to make available medical supervision or “genetic counselling” depending on the severity of a condition being tested for and the “predictive power” of a test; according to the Association of Genetic Nurses and Counsellors, support services offered by most companies in this market are “severely lacking”. Testing for some rare conditions can have a high chance of producing false positives, causing unnecessary anxiety unless the user has a strong grasp of uncertainty and probability.

The report also said that the government should consider whether restrictions should be placed on the types of genomic tests available for use on asymptomatic children or foetuses, having been warned of testing being advertised for inappropriate purposes such as “to determine a child’s aptitude for sport or arts”. If this is indeed a problem, the government may consider banning tests which do not meet the criteria of the UK National Screening Committee.

Regarding the thorny issue of data privacy, the MPs urged the government to review the UK’s data protection framework for direct-to-consumer genomic testing, including newly emerging risks.

“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 report said. “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.”

Committee chair Greg Clark commented: “For thousands of people, at-home genomic testing has opened the door to a wealth of new information about our ancestry, our health, and even the likelihood of disease. Done properly, genomic testing offers great potential for individual knowledge and can provide data which can advance medical research.

“However, these technologies can give rise to questions of quality, which are difficult for consumers to assess, and can sometimes pose challenging ethical questions.”

The report was generally welcomed by academics as balancing the calls for accountability regarding commercial genomic testing with the concerns raised about the service.

Professor Timothy Frayling, a human genetics expert at the University of Exeter, commented: “There is still a strong hint of snake-oil salesmanship around some of the providers, especially those marketing the tests as 'personalised diet or fitness' tests.” Professor Dusko Ilic, a stem cell scientist at King’s College London, added: “It’s important to set boundaries now so that it isn’t possible in a few years for, for example, private health insurance companies to start using genomic testing to determine the premium and costs of coverage.”