Expanding genomics programme requires focus on law, ethics and regulation
In June, it was announced that Genomics England’s Generation Study – designed to sequence 100,000 newborn genomes to identify over 200 treatable genetic conditions – will expand to include every baby born in England by 2030.
The initiative is backed by the UK government’s £650m investment in genomic technologies and aligns with its focus on building a prediction- and prevention-focused National Health Service (NHS). Undoubtedly, such screening will facilitate early diagnosis and intervention in regards to rare, treatable genetic conditions, potentially sparing families years of uncertainty and hastening the initiation of life-saving treatment. Currently, ‘heel prick’ newborn screening tests are used, with the ability to detect only a group of nine rare conditions. The genome sequencing now proposed will greatly expand the range of conditions tested for. In doing so it’s expected to generate cost savings in addition to the reduced burden of late diagnoses.
The move has been welcomed by Genetic Alliance UK, which stated that the ‘programme holds incredible promise for speeding up the diagnosis of genetic, rare, and undiagnosed conditions.’ The charity stressed the importance of transparency around how data will be used and the risks managed, and about how results will be interpreted.
There are issues with patient choice in terms of future autonomy if a parent consents to genomic sequencing and informs the child, because the child is not given a choice
Alison Choy Flannigan
Officer, IBA Healthcare and Life Sciences Law Committee
‘There are a number of legal and ethical issues with genome sequencing,’ says Alison Choy Flannigan, an officer of the IBA Healthcare and Life Sciences Law Committee. ‘Each person’s genome is unique and cannot be completely de-identified for privacy protection.’ This is to say that it’s impossible to entirely protect the privacy of an individual whose genome is sequenced. Further, ‘there are issues with patient choice in terms of future autonomy if a parent consents to genomic sequencing and informs the child, because the child is not given a choice,’ she adds. ‘There are also issues when the parents are in disagreement on the issue, particularly if they are separated.’
‘Genomic data is not restricted to the person who provided [their] consent […] it is also highly identifying about the person’s biological relatives, such as parents, children, siblings or cousins,’ says Elysangela Rabelo, a partner in the Life Sciences and Healthcare practice at Demarest Advogados, São Paulo. Giulio Gatti, an attorney-at-law in the same practice, cites research showing that ‘a genetic database needs to include only two per cent of the target population to enable third-degree kinship identification for virtually anyone.’
While the UK’s NHS will test only for treatable conditions, genome sequencing can reveal uncertain variants and adult-onset disease risks, raising ethical concerns. Data is stored by the Generation Study until the age of 16, at which point participants may opt to continue. ‘Healthcare providers have a duty of care to their patients. It is really important that appropriately qualified genetic counsellors are involved,’ says Flannigan, who’s a partner and Co-Lead Healthcare at Hall & Wilcox in Sydney.
Identifying risk variants doesn’t guarantee the emergence of disease and may lead to unnecessary treatment or anxiety, meanwhile. Gail Vance, Professor Emeritus of Medical and Molecular Genetics at IU School of Medicine, says that testing for late-onset disorders – which is currently excluded from the Generation Study – shouldn’t be carried out in respect of children as it means ‘robbing them of autonomy and often causing family disruption and differential parenting.’
Genomics England says that ‘thinking about ethics’ has been embedded throughout the Generation Study. This has involved the creation of an Ethics Working Group, which ‘deliberated issues during the design of the study’, as well as through public engagement on the subject, for example.
June also saw the launch of the Synthetic Genome Project (SynHG), a significant advancement in genomic technologies. This £10m project, funded by the London charitable foundation the Wellcome Trust, could substantially enhance our understanding of genetic diseases by improving laboratory modelling and genome manipulation strategies and facilitating the development of synthetic cells for research, drug development and therapeutic applications.
‘Synthetic genome research and synthetic biology more broadly is an area of focus in the UK and set to be a big area of growth,’ says Charlotte Tillett, an officer of the IBA Healthcare and Life Sciences Law Committee. ‘Given the rapid development, there is a real risk that the development of the regulatory framework will not be able to keep pace.’ Tillett, who’s a partner at Stevens & Bolton, adds that ‘the use of synthetic biology brings incredible advances in science as well as numerous legal, scientific, ethical and other considerations.’
Synthesising human DNA raises ethical concerns over misuse. Without global regulation, progress may outpace safeguards. Flannigan, for example, highlights concerns about biological warfare. Meanwhile, Rabelo explains ‘health data are highly critical and valuable on the illegal market […] making them frequent targets for cyberattacks.’ Gatti adds ‘interoperability and intensive use of these data by application programming interfaces, wearables and digital platforms increase the risks of leaks and misuse.’
Equitable access is another concern. ‘Unfortunately, genomic technology is expensive and therefore, similar to good healthcare, the reality is that it is more available to wealthy countries and wealthy people,’ says Flannigan. ‘We experienced inequity of access first-hand during the Covid-19 pandemic with the availability of vaccines.’
According to the SynHG website, the Project is ‘pro-actively engaging in the social, ethical, economic and policy questions that may arise as the tools and technologies advance.’
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