Guidance needs to be created for healthcare professionals on the limitations and ethics of using polygenic risk scores, an independent review has recommended.
The Government has accepted all of the recommendations outlined in the Equity in Medical Devices: Independent Review, published last week, including for studies into polygenic risk scores to include socio-economic status, ethnicity, and lifestyle factors in their interpretation. The independent review aimed to establish the extent and impact of biases in the performance of medical devices, including certain genomics applications. The report, written by an expert review panel led by Professor Dame Margaret Whitehead, of the University of Liverpool, outlines their findings and makes 18 recommended actions.
'Major genetic datasets that polygenic risk scores use are overwhelmingly on people of European ancestry, which means that they may not be applicable to people of other ancestries,' said Enitan Carrol, professor of paediatric infection at the University of Liverpool and a co-author of the review.
Commissioned by then-health-secretary Sajid Javid in 2022, the review was prompted by concerns over the accuracy of pulse oximeters – devices which measure bloody oxygen levels by transmitting light through a finger – in black and minority ethnic people during the COVID pandemic. As such, the report included a review of optical devices, like oximeters, AI-enabled medical devices, and polygenic risk scores in genomics.
A polygenic score is developed by combining information from many (often millions of) individual low-risk genetic markers to assess aggregated genetic predisposition to a disease or trait. The report highlighted how a lack of ancestral diversity in the genetic datasets used to develop polygenic risk scores means they could be less applicable to certain, patient groups.
Three recommendations regarding polygenic risk scores were made in the review in total including:
- Further studies to help explain the applicability of polygenic risk scores to certain groups.
- Commissioning research into public understanding of polygenic risk scores.
- Guidance to be developed by Royal Colleges and health education bodies for healthcare professionals around equity and ethical challenges of applying polygenic risk scores in a healthcare setting.
Polygenic risk scores are not currently used by the NHS, but there are ongoing NHS pilots into the use of them - for example, for calculating risk of heart disease (see BioNews 1167).
The report also highlighted that although the use of polygenic risk scores to select embryos is banned in the UK, this does take place in other jurisdictions, forcing healthcare professionals to confront potential ethical challenges posed by this practice (see BioNews 1130 and 1137).
'The review is correct to raise concern over the use of polygenic scores in embryo selection, a practice that is – and should remain – prohibited in the UK', said Sarah Norcross, director of the Progress Educational Trust (PET).
'The problem with using polygenic scores in this way is not so much about the ethics of embryo selection in general, but rather about the fact that there is no scientific justification for thinking that polygenic scores are meaningful in relation to selecting embryos at all. In other words, the problem here is false claims that polygenic scores can be useful in assisted conception.'
Sources and References
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Equity in medical devices: independent review
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Equity in medical devices: independent review - final report
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UK report reveals bias within medical tools and devices
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Medical device bias needs immediate action - review
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Tackling bias in medical devices: the Equity in Medical Devices Independent Review is welcome, but could have gone further
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Independent review of equity in medical devices
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