9月2日（日）に開催する研究会「Cases in the Past and Health of the Future」のProf. Steve Sturdy と見上の発表要旨を掲載しました。多くの方のご参加をお待ちしております。
Here are the abstracts of the talks by Prof. Steve Sturdy and myself to be given at the Cases in the Past and Health of the Future event on 2nd Sept (Sun). We hope to see many of you at the event!
Disentangling Genomic Medicine by Prof. Steve Sturdy (University of Edinburgh)
The Making Genomic Medicine research project began on 1 October 2013 and ends on 30 September 2018. It set out to analyse the scientific and social factors that led, by the early twenty-first century, to the establishment of genomic medicine as a field of intense research and innovation activity. The project employed three postdoctoral research fellows, each pursuing separate but related research topics. These were: making genomic risk; genomicising drug discovery and development; and the rise of rare diseases. My own role, as principle investigator, has been to guide the work of the research fellows, and to synthesise their findings into a coherent narrative of the making of genomic medicine.
Based on this substantial body of research, the story I wish to tell is primarily one of industrialisation. It focuses on the increasingly intense interaction between the biotechnology and pharmaceutical industries on the one hand, and healthcare systems on the other. It shows how, from the 1980s onwards, biotechnological research and innovation became increasingly entangled with the delivery of healthcare: first in the field of rare genetic diseases; and then in relation to more common diseases, especially cancer.
At the heart of this story is an account of changing “regimes of value”. Medical genetics developed as a medical specialism from the 1960s to the 1980s, in large part because it was seen to deliver two distinct but related forms of value. First, it provided prospective parents with information that helped them to make decisions about whether and when to have children. And secondly, it reduced the cost to healthcare systems of caring for affected children. By the 1990s, however, a third form of value was becoming increasingly prominent. The biotechnology sector had moved on from producing recombinant versions of existing medical molecules to develop new kinds of products, including novel DNA tests for genetic disorders, and innovative treatments based on a genomic understanding of both rare and common disorders. Increasingly, these products were marketed not just to medical geneticists, but to other areas of healthcare. Commercial activity in this areas was also encouraged by government research funding and by favourable industrial policies on intellectual policy and regulation of medical products, with the aim of delivering economic growth and competitiveness. A major driver for the development of genomic medicine was thus the desire to generate and extract economic value from healthcare. This in turn involved a shift in the status of patients. Within the new genomic regime of value, patients are no longer just beneficiaries of healthcare, finding value in reproductive advice as they did in the old regime of medical genetics. Increasingly, they and their bodies also now serve as raw materials for the genomic innovation system: as sources of biological samples, personal health data, and what some sociologists of medicine have called “clinical labour” – the work of participating in clinical trials and other research activities.
This framing of the development of genomic medicine provokes further questions about modern healthcare more generally. First, how has this growing orientation towards generating and extracting economic value affected the orientation of healthcare more generally? Has it diverted resources away from less economically productive areas of medicine, and thereby undermined and devalued other areas of healthcare? And if it has, should efforts be made to reassert the value of these disadvantaged areas? Secondly, do patients derive as much value from innovative areas of healthcare as they now contribute? If not, should they? And if they should, how might this be achieved? Third and finally, looking at healthcare systems in wider perspective: are there other forms of value – for instance, social solidarity – that healthcare can generate, and that we might seek to foster?
The Rise of Rare Diseases by Dr. Koichi Mikami (University of Tokyo)
‘Rare diseases’ – not as a general term referring to diseases of very low prevalence but as a socially and politically meaningful category in medicine – emerged in the late twentieth century through interactions of medical scientists, policymakers, pharmaceutical companies, and patients and their families, first in the United States and later in Europe. In the research strand The Rise of Rare Diseases, I undertook a series of study to investigate the historical development of this category and how it influenced the lives of those who afflicted with such diseases.
The grand narrative of rare diseases since the 1980s tends to be filled with many successes. Rare diseases, despite their severity and because of their rarity, had received little attention in policy and commercial arenas, but since passage of the US Orphan Drug Act of 1983 and legitimization of the category, the volume of medical research focusing on such diseases and the number of drugs developed for them have increased. And it is repeatedly emphasized that these successes are not only due to the fact that the new regulatory environment prompted medical scientists and pharmaceutical companies to pay more attention to such diseases but also explained as a result of increased involvement of patients and their families in the process of medical research and drug development.
In this talk, I question what lessons we can and should learn from such successes in the past. I by no means mean to undervalue or even deny the importance of partnership among multiple stakeholders, including patients and their families, in studying rare diseases and developing effective drugs for them. But we should not forget that there have been many other cases where such partnership did not result in a success. Some cases also suggest that understanding a disease mechanism and developing an effective drug were only the beginning of prolonged struggle to improve the quality of life for patients and their families. By examining two cases of success in the past that are relatively known within the community of rare diseases and beyond, I argue that, rather than modelling on what patients and their families did in the cases of success, they suggest the need to look carefully at the trend in medical science and pharmaceutical market and to figure out what mode of partnership is being sought for. I then finish by drawing attention to an initiative in the UK called Syndrome Without A Name (SWAN) to explore what the current trend might be in genomic medicine.