Caroline Wechsler is a PhD Candidate in the History and Sociology of Science Department at the University of Pennsylvania and a 2025-2026 Consortium Research Fellow.
In January 2022, the Brigham and Woman’s Hospital (Boston, MA) Genetics service announced that they would no longer evaluate patients for Ehlers-Danlos Syndrome (EDS), a connective tissue disorder characterized by excessive joint and skin flexibility. “We regret the disappointment and frustration that this will cause,” they wrote, but patients should “contact their PCP and/or establish care with an appropriate medical specialist.” The Brigham’s decision is part of a growing trend: some medical geneticists are turning away individuals with EDS, questioning if EDS is genetic, or even real at all. Although EDS was one of the first conditions studied by medical geneticists in the 1950s, as the field was beginning to take shape as a clinical subspecialty, some medical geneticists now argue that they are not responsible for EDS patients. What makes a disease “genetic,” or not? Who are the “appropriate” providers of genetic medical care? And what are the stakes – for institutional organization, physician professionalism, patient care, and patient identity – of these labels and distinctions? My dissertation project begins to answer these questions by tracing the evolution of clinical medical genetics in the United States in the second half of the 20th century. With the support of the Consortium for the History of Science, Technology, and Medicine, I traveled to several archives over the past year to collect materials that shed light on the interwoven histories of medical genetics and EDS.
Although genetics is central to the present ideal of technologically sophisticated “personalized” medicine, I show that clinical genetics in practice occupies a more vexed and ambiguous position as a discrete medical specialty. I begin with the development of medical genetics out of heredity clinics, and trace medical genetics as it became institutionalized within hospital systems and the corresponding structures of American medicine, including its relationship to increasingly active patient groups and to a complex and troubled reimbursement system. I conclude with the promises and disappointments of the Human Genome Project and early efforts at gene therapy, and draw all these threads together to make sense of the present controversy over EDS. By focusing on genetics clinics as part of the complex American health structures that shape patient care in the US, I shed new light on important questions about the field. What are the boundaries of medical genetics – what “counts” as a genetic disease, and how have those boundaries changed over time? What are the stakes of proclaiming a disease genetic, or rejecting that designation? Who should practice clinical genetics – scientific experts, specialist physicians, primary care providers, professional genetic counselors, social workers, or public health workers? How is genetic disease best diagnosed, understood, and tracked – through molecular testing, or through examining the body? Where does medical genetics fit within hospital systems and reimbursement infrastructures? What is the relationship between medical geneticists and other physicians, as well as increasingly active patient groups, hospital administrators, insurers, government regulators, and biotechnology companies? And given the limits of targeted genetic intervention, at least until very recently, what has genetic care looked like, beyond just diagnosis?
To address these questions, I study the practice of medical genetics in clinical spaces over time. I describe how medical geneticists interacted with their patients, their clinical practices and tools, what they imagined their specialty could offer to patients, and how that changed alongside changing genetic knowledge. Given the long-intertwined history of medical care and genetics, historians of medicine and science have paid surprisingly little attention to the genetics clinic itself, and the kinds of care that patients receive there. While other historians of science and medicine have focused on the intellectual lineage of medical genetics, particularly its relationship to eugenics, I aim to focus on medical genetics as a practiced clinical specialty. My dissertation reveals these clinics as not just sites of biomedical knowledge production, but as sites of care embedded in an institutional hospital system, in a bench-to-bedside research scheme, and in the lives of patients and families. I position medical genetics as “flexible,” showing how its practices and alliances have shifted and twisted over time, reflecting the changing forces of American biomedicine. But there are limits to flexibility: I also demonstrate how medical genetics has struggled to define its scope, impact, and intentions. I show how medical geneticists grappled with their responsibilities to patients and the public, and the structural problems of setting up a viable clinical specialty.
My dissertation focuses on a specific family of genetic conditions: the connective tissue disorders. I am especially interested in Marfan syndrome and Ehlers-Danlos syndrome (EDS), because these conditions, I argue, have been central to the history of clinical genetics in the US. These disorders embody traits that illuminate central tensions in the field: chronic conditions with significant life impact but limited lethality; messy and contested diagnostic practices; activist patients and new forms of information sharing and gathering; and vexed financial situations. In contrast to the inborn errors of metabolism or the hemoglobinopathies, which have been seen as more “canonical” genetic diseases, I argue that the hereditary connective tissue disorders were central to the vision of medical genetics that took prominence in the 1950s and 1960s, spearheaded by Johns Hopkins physician Victor McKusick, considered by many to be the “father of medical genetics.” As the Brigham’s deferral of EDS patients suggests, the hereditary connective tissue disorders, especially EDS, have become frustrating to medical geneticists in the present, revealing open questions around diagnostic practices, therapeutic options, credibility and expertise, and financial pressures. I suggest that in genetic conditions like the connective tissue disorders, medical genetics clinics themselves have come to act as a kind of connective tissue in the complex medical lives of these patients, holding together and coordinating their care across multiple specialties, and taking on a structural and supportive role that often leaves them stretched to a breaking point.
With the support of the Consortium, I visited several archives, each of which held key materials for different portions of my project. My early chapters deal primarily with the growth of medical genetics at Johns Hopkins under Victor McKusick, one of the first departments of medical genetics based in a hospital rather than a basic science department. During a visit to the Chesney Medical Archives at Johns Hopkins, I was able to work with materials from McKusick’s personal paper collection, as well as the papers of Barton Childs, another foundational figure in the history of medical genetics, and other institutional documents from the university. These collections offered insight into the early days of the department of medical genetics, showing how McKusick and his colleagues organized their program and made a case for the growing importance of medical genetics in the 1960s. In addition, McKusick was fascinated by the connective tissue disorders, so Hopkins became a central clearinghouse for information and clinical care on them. McKusick and his colleagues also worked closely with patient groups, including the National Marfan Foundation, so these collections also showcased the dynamics of collaboration with patients and families, whose perspectives are often difficult to ascertain in institutional archival materials.
The American Philosophical Society holds unparalleled collections on human and medical genetics, which were a treasure trove for my project. At APS, I worked with records from the American Society of Human Genetics, as well as several individual paper collections from prominent geneticists, including James V. Neel and Arno Motulsky, both physician-geneticists who took significantly different approaches to institutionalizing and positioning medical genetics than Victor McKusick at Hopkins. Materials from these collections allowed me to better understand the early days of medical genetics at a range of institutions (and the different strategies and institutional structures they used), as well as the complex relationship between medical genetics and human genetics.
One of the central threads of my dissertation traces the funding of medical genetics. The Rockefeller Archive Center holds an incredible range of collections, including the records of many philanthropic organizations that were key sources of funding for early medical genetics programs. At the RAC, I viewed grant applications and correspondence from various foundations that helped me make sense of funding patterns in medical genetics. Grant applications are a fantastic historical resource because they require applicants to state plainly, for a broad audience, their goals, intentions, and logics. In addition, the RAC holds a collection of oral history transcripts from historian Daniel Kevles’ interviews with many geneticists, which contain reflections on the field from many medical geneticists including Barton Childs, Kurt Hirschhorn, and Aubrey Milunsky.
Cold Spring Harbor Laboratory holds extensive collections in the history of molecular biology and genetics. At CSHL, I listened to audio recordings of conferences held at the Laboratory’s associated Banbury Conference Center. The Banbury Center hosted two key conferences in the 1980s and 1990s: one on gene therapy, and one on the genetics of Marfan syndrome. At the first conference, geneticists debated the potentials and pitfalls of gene therapy; it was fascinating to hear these debates come to life. The second conference was particularly important for the portion of my dissertation focused on the connective tissue disorders: it represented a watershed moment where groups of researchers came together to share data on finding the gene for Marfan syndrome in 1991 and discussed the implications of this finding. These audio recordings were an incredibly rich resource, allowing me to hear discussion between key actors at crucial moments in the timeline. Such dialogue is often lost to history, but CSHL’s amazing audiovisual collection allowed me to recover these discussions. In addition, the library at CSHL houses a huge number of genetics and medical genetics textbooks, which were a key source for my investigation of clinical practices such as the physical exam and history taking.
In addition to these four key archives, I also visited other member institutions which provided access to amazing materials. At the Wellcome Collection in London, I viewed patient advocacy organization materials regarding the connective tissue disorders from the 1980s and 1990s, as well as the original case files and records from the physician who described EDS in the 1930s. At the College of Physicians in Philadelphia, I worked with a range of published materials including medical genetics textbooks, pamphlets, directories and encyclopedias directed at both patients and physicians. Finally, at the National Library of Medicine, I worked with a wide range of grey literature, including conference proceedings and pamphlets, video recordings of case presentations and grand rounds, as well as personal paper collections on the development of gene therapy at NIH, with which my dissertation concludes. I am very grateful to the Consortium for their support of this work: this archival access has allowed me to begin to piece together the fascinating history of medical genetics, and begin to make sense of its present tensions.
