On the 26th of January 2022, the Government Office for Science published a report titled: “Genomics Beyond Health”. Since it was made public, the report has caused a bit of a stir amongst the genomics and healthcare community. Here, we provide a summary breakdown of the report as well as reactions from the community.
What does the report cover?
The report overview begins with a simple question. What is genomics?
The report covers, at a basic level, what DNA is and how it works, including mutational and epigenetic changes. It also highlights the rapidly decreasing cost and time required to sequence whole genomes, which is – shockingly – 97.7% cheaper than in 2010.
The report then takes a deeper dive into genomic technologies and concepts, such as polygenic scores, that are having a significant impact on healthcare. In the past few decades, the development of polygenic risk scores has been made possible through genome wide association studies (GWAS). However, the report is quick to highlight the current limitations of GWAS studies, including the limited diversity of data used in such studies. For example, only 0.3% of GWAS data are from people of African ancestry.
The current uses of genomics technologies are then laid out. This, unsurprisingly, included healthcare, forensics, non-human genomics (agriculture etc.), and direct-to-consumer testing.
The difficult topics “beyond health”
After these high-level insights, the report then explored the future uses of genomics beyond health. A whole chapter is dedicated to highlighting future challenges for policymakers and society.
Since its release, this section of the report has garnered mixed responses from the community. It appears to blur the lines between things that are theoretically possible and those that are technical possible. Ideas that wouldn’t be out of place in an episode of Black Mirror are plentiful and are, as Genomics England put it, “deliberately provocative”.
The report suggests that, in the future, an individual’s whole genome sequence could be used for purposes outside of healthcare. For example, employers could use genomic data in the selection of workers who have ‘optimal health’ or personality for a role, or to prevent workplace injury. The report also goes on to cite a 1996 twin study paper, and claims that extraversion, agreeableness, and other personality traits are “>40%” heritable. It cites a 21-51% heritability of “musical ability”. The data that forms the basis for this part of the report seems to come from a single, outdated paper.
The UK currently has “no explicit legislation barring the use of genomic analysis in employment scenarios”. However other countries do. For instance, the Genetic Information Non-discrimination Act (GINA), enacted in the US in 2008, prohibits the use of genomic information in job hiring, redundancy, placement, or promotion decisions. Is it time for the UK to make a similar step?
Professor Darren Griffin (Professor of Genetics, University of Kent) said: “Science and Social Science working together is one of the things that the UK does best. The opportunity should not be missed to make a world-leading difference, not just to health in this country but globally as well.”
Other topics include gene editing for increased athletic capabilities, and even genes associated with aggressive behaviour to be used as a mitigating factor in criminal cases.
Genes associated with academic attainment are also mentioned, with 1,100 genes allegedly thought to influence educational attainment. The report suggests that, if used effectively, polygenic prediction of learning ability at birth can enable earlier interventions to improve educational outcomes for those with learning disabilities. However, there are currently “no regulations in the UK governing the use of genomics in education”, and their use could lead to “stigmatisation of pupils”.
As Genomics England points out, most of the topics and possibilities flagged in the report are deliberately being highlighted before they have been “validated scientifically, proven at the level of engineering or product, or brought into real world use.”
This may well be the key point to focus on. While the ideas in this report might be uncomfortable, or seem irrelevant, the general consensus is that eventually they will land on our doorstep. I think it’s good that the Government is prepared to raise uncomfortable topics and horizon scan so that solutions can be synthesised in advance of the problem. Policy notoriously lags behind science and technology (just look at the problems policymakers have had regulating large social media platforms) and throwing the net out wide might catch potential problems before they are realised.
Is there any harm in considering how to approach these issues, even if it seems a bit outlandish? I’m not so sure, but perhaps it’s better to be safe than sorry.
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