Organized Session

Forgotten Genealogies: Medical Genetics and the Emergence of Human Genomics

Organizers

Miguel Garcia-Sancho

University of Edinburgh

Susan Lindee

University of Pennsylvania

Chair

Soraya de Chadarevian

University of California Los Angeles

Metadata

Session Abstract

In this panel, we explore the underappreciated contributions of medical geneticists to the development of the field of genomics and, more specifically, the Human Genome Project (HGP). Medical geneticists, who worked with patients, played a leading role in the emergence of genomics through the organisation of the Chromosome Mapping Workshops and the launch of the journal Genomics in 1987, which had Victor McKusick as one of its founding editors. However, throughout the 1990s they were displaced from the official narratives of the HGP as the genome project was presented as a basic science endeavour that had uncovered the fundamental information behind our genetic makeup. Our panel will show how the history of genomics looks like if medical geneticists are brought into the picture. Bringing together scholars from Europe and the USA at different career stages, we explore the ways medical geneticists determined, used and shared genomic information with other stakeholders in the clinic. We start by presenting a methodology that visualises the active and often overlooked role of medical geneticists as genome mappers and sequencers, a role that the existing historiography has narrowly attributed to high-throughput genome centres. We then zoom into different diagnostic uses of genomic data and identify other actors, from patients to counsellors, that crucially shaped interventions. The tendency for official histories of the HGP to elide the roles of these clinically minded actors, along with the dominance of the genome centres in existing accounts, has led to the problematic assumption that the former were replaced by the latter. In fact, clinical medical genetics was central to the HGP, and geneticists, counsellors and patients played key roles both past and present. Our papers excavate the complexities of interactions between high-tech, systematic genome mapping, and the more grounded, practically-oriented gaze of professionals and stakeholders in the clinic.

Presenter 1

Sequencing, Bibliometrics and History: A "From Below" Perspective on the Emergence of Human Genomics

Miguel Garcia-Sancho

University of Edinburgh

Abstract

Historians and social scientists have traditionally addressed genomic research by looking at large-scale DNA sequencing centres. This has led to a portrayal of genomics as a big science enterprise, one that is epitomised by the Human Genome Project (HGP). There is yet a different way of looking at the history of genomics: instead of focusing on one or various institutions that are deemed representative of this field of research, one can explore how institutional collaboration around the practice of DNA sequencing evolved and led to different configurations of genomics over time. To do this, we have combined qualitative and quantitative methods, and compiled all human sequence submissions to public databases between 1985 and 2005. We have also identified and captured authorship details of the first publication in which the sequence submissions were described in the scientific literature. Our dataset, formed by over 10 million sequence submissions and almost 25 000 publications, shows that throughout the 1990s the systematic completion of the human genome co-existed with more disease-oriented genome mapping and sequencing conducted by human and medical geneticists. In this presentation, we will analyse a co-authorship network visualisation derived from our dataset and, more specifically, a collaboration between the University of Toronto Hospital for Sick Children and the company Celera Genomics. The focus on this often overlooked collaboration will enable us to reconnect two ways of sequencing that the literature has portrayed as increasingly differentiating throughout the history of genomics: work seeking to augment the depth of the sequence by exploring genomic variation implicated in hereditary diseases (in this case cystic fibrosis), and work seeking to augment the length of sequences by moving from the mapping of individual disease-linked genes towards mapping and sequencing whole chromosomes and, ultimately, the entire human genome.

Metadata

Presenter 2

Cystic Fibrosis and Genetic Prognostication: From the Trope of a Cure to the Uncertainties of Precision Medicine

Rebecca Mueller

University of Pennsylvania

Abstract

Historically a pediatric disease that was lethal in childhood, cystic fibrosis was gradually transformed through complex care that enabled some to live into adulthood. The increasing average lifespan of people with CF (PWCF) became a blunt metric of therapeutic success and yet to PWCF and their families, the average lifespan was discouraging, oftentimes foreclosing hopes for a future. In 1989 the CF gene was cloned and a dismal prognosis gave way to promises of a gene therapy cure. Starting in the 1990s, scientists explored genetic and proteomic strategies for treating CF and the singular population of cystic fibrosis patients was splintered into subgroups, as scientists stratified patients by genotype to develop precise medications, later patented by Vertex Pharmaceuticals. This presentation traces the evolving science and its impact on prognostic uncertainty, interrogating how people with CF experienced rapid therapeutic innovation. In a society whose structures are premised upon able bodies and normative lifespans, PWCF navigated life decisions with a variable prognosis that ranged from certain decline to genetic cure. By juxtaposing the cautionary “safe harbor” clause of corporate press releases regarding CF drugs with the experience of PWCF, I argue that the disease offers an important lens through which to consider the prognostic implications of genetics, whereby normative futures are forecast in uncertain ways. While companies like Vertex Pharmaceuticals are legally mandated to identify forward-looking verbiage to warn investors, those with the most invested-- PWCF—have had to decide for themselves how to hope and plan amidst an evolving therapeutic landscape.

Metadata

Presenter 3

Conflicting Priorities: Genetic Counseling, Disability Advocacy, and Genomic Research

Andrew J. Hogan

Creighton University

Abstract

As prenatal diagnosis became widespread in the United States during the 1980s, the new master’s level profession of genetic counseling grew alongside it. Genetic counselors provided medical information and helped their clients to make reproductive choices that fit with their personal values and goals. With the prenatal diagnosis of a developmental disability, women faced difficult decisions. Many chose abortion, which led disability self-advocates to question how genetic counselors were presenting these conditions to their patients. In the 1990s, disability self-advocates succeeded in reshaping some genetic counselors’ views of developmental disabilities, toward more positive and accepting narratives. This presentation examines collaborative meetings in which genetic counselors examined their field’s assumptions about disability, and critically assessed their role in prenatal decision-making. These efforts took place in the context of the Human Genome Project and the growth of prenatal testing options. I highlight the genetic counseling training program at the National Human Genome Research Institute (NHGRI), which was a site of extensive engagement with disability narratives and open criticism about the clinical uptake of prenatal testing with limited social and ethical reflection. This presentation draws on archives, publications, newsletters, and interviews to examine the nature and responses to this criticism at NHGRI, and more broadly in the genetic counseling community. Even though these conversations did little to alter the expansion of prenatal testing, I argue for the importance of this ongoing engagement. Absent the rekindling of discussions about genetic professionals’ role in prenatal diagnosis, and the potentially stigmatizing effects of selective abortion for people with disabilities, these issues, which raise uncomfortable conflicts for genetic counselors, will be continually overshadowed by the latest biomedical innovation.

Metadata

Commentator

Susan Lindee

University of Pennsylvania