Revealing the history of genetics and genomics policy in Britain

Philippa Brice

13 December 2022


The PHG Foundation hosted an event in Westminster on 8th December 2022 to showcase the research behind a new book published by Routledge: Making Genetics and Genomics Policy in Britain: From Personal to Population Health, by Philip Begley and Sally Sheard.

Prof Sally Sheard, Executive Dean of the Institute of Population Health at the University of Liverpool (and renowned health policy analyst and historian) spoke to guests about this unique effort to capture and understand the history of policy supporting genetics and genomics, and how this developed alongside the scientific and clinical developments it served. 

The research focused not only on published papers and ‘grey’ (policy) literature, but also very much on oral histories. Almost fifty stakeholders from a wide range of backgrounds were interviewed for the book, and two witness seminar sessions to review and share perspectives on historical developments in genetics and genomics policy were held. The value of such historical research is to reveal not only the policy opportunities taken, and the hidden efforts behind them, but also those missed, where additional lessons about the best ways to improve the uptake from science into policy and healthcare practice may lie. 

The origins of genomics and health policy

Prof Sheard noted that policy has always struggled to keep up with the rapid pace of scientific discovery in genetics and latterly genomics, which began as the application of new technologies to the specialty of clinical genetics but rapidly escalated to large-scale research initiatives. Most notable among these was the Human Genome Project (HGP) setting out to sequence the first complete human genome, and alongside it recognising the vital importance of also addressing ethical, legal and social issues (ELSI) arising from medical applications of genomics. 

In policy, it is common for selected individuals – termed gatekeepers or entrepreneurs – to play significant roles in perceiving and driving opportunities for change. Two such were Dr Ron Zimmern (Founder and Chair of Trustees of the PHG Foundation) and Dr Muin Khoury (Director of the National Office for Public Health Genomics at the Centers for Disease Control), who created inaugural centres for the discipline of Public Health Genomics in the UK and US in the late 1990s, well before completion of the HGP. They championed this new approach of responsible and effective translation of genome-based knowledge and technologies for population health, which sought to realise the widest health benefits of genomic science. Key achievements were not only bridging the divide between individual and population health, but also in enabling balanced public debate, developing a robust evidence base and supporting a strong regulatory system for genomics in healthcare. 

Getting governments on board

Certain politicians also played a leading role in the development of genomics, notably Alan Milburn who as Secretary of State for Health supported the creation of six ground-breaking Genetics Knowledge Parks (one of which was sited within the Public Health Genetics Unit in Cambridge, the predecessor of the PHG Foundation) and the subsequent genetics White Paper of 2003, Our Inheritance, Our Future: Realising the Potential of Genetics in the NHS

After something of a hiatus in overt political engagement with genetics, during which time policy champions continued to influence behind the scenes, the 2009 House of Lords report on Genomic Medicine revived interest. Subsequent Prime Minister David Cameron was persuaded to support the landmark 100,000 Genomes Project, a unique partnership between a new Department of Health and Social Care owned company Genomics England and the NHS launched in 2012. By the time the research Project concluded in 2019, the new NHS Genomic Medicine Service had been launched, followed in 2020 by the first national genomics healthcare strategy, Genome UK: the future of healthcare

The future for genomics, health and policy?

In conclusion, Prof Sheard noted that the recent pandemic has revealed the value of molecular genomics for diagnostics and surveillance to a much wider public, but concerns remained about some forms of genomic testing, and this was an issue that must still be addressed – especially in the light of issues such as campaigns of scientific misinformation that are increasingly seen.  She also emphasised the consensus view that a large, skilled genomics workforce will be needed to progress genomic medicine in the UK. 

Both points were reinforced by Prof Sir Munir Pirmohamed, who went further to say that besides embedding genomics in all forms of medical training and continued public and patient education and engagement, there were two main outstanding priorities for genomics. Firstly, to delivery currently available genomic testing at scale, in order to democratise national access to testing for all those who need it; and secondly, to support the life sciences industry and ensure that the financial benefits arising from companies built on genomics skills, expertise and infrastructure in this country can be retained for the benefit of this country. 

Finally, providing perspective from the  side of the political decision-makers, Lord Norman Warner – who took up office as a Health Minister just days before the 2003 Genetics White Paper was launched – agreed with the critical importance of political leadership in driving forward science, and the need for ongoing efforts to engage politicians as champions for science and health. Sir Munir added that this role was similarly vital for maintaining globally competitive research and development, as well as patient benefits. The necessity for risk-taking by politicians in order to achieve scientific gains was also discussed, with the value of robust governance and regulation as the balance to set against this. 

As genomics becomes part of mainstream medicine, and as new science follows on (not least refinements in technologies for genomic sequencing and analysis, and other forms of ‘omics), both researchers and health and policy professionals can learn lessons from the history of policy development in genomics, to help accelerate the future use of science for health.

'For more on the reception, click here.

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