Medical geneticists and genetic counselors have an often complicated and at times tense relationship with people with disabilities, their families, advocates, and scholars. Geneticists are strong advocates and supporters for all of their patients, regardless of their abilities and disabilities. Although people with disabilities should not be viewed as a homogenous group with no variation in attitudes and beliefs, a visit to a genetics clinic can make patients feel very “other” when they are analyzed, catalogued, measured, and examined to determine just how different they are, to find out what’s “wrong” with them. Many patients and advocates – though by no means all – view prenatal testing as an existential threat. To better understand this situation, a look at the historical origins of medical genetics can shed some light on this dynamic.
The medical genetics specialty began to cohere and develop in the decades between the 1940s and 1970s. Its roots go back before 1940, mostly in the form of eugenics. The term “medical genetics” was introduced in the early 1930s*, likely independently, by the eugenics-minded Madge Macklin, then at the University of Western Ontario, at the 1932 Third International Congress of Eugenics and in 1931 in the UK by the vehement critic of eugenics Lancelot Hogben in his text Genetics Principles in Medicine and Social Science (although he proposed his own eugenic ideas in the text). But there was no clear cut profession of medical genetics or providers who called themselves genetic counselors in the early decades of the 20th century.
The formative period for the medical genetics specialty began shortly after WWII ended. The first medical genetics clinics opened their doors in the 1940s and 1950s. The American Society of Human Genetics, the first professional organization for medical and other human geneticists, was established in 1948; its flagship journal, the American Journal of Human Genetics, first began publication in 1949. Accurate human karyotyping,** the primary genetic laboratory test for decades, became available during the 1950s, thanks to the work of Tjio and Levan. Several foundational texts were published, such as Victor McKusick’s Mendelian Inheritance in Man in 1966, Dave Smith’s Recognizable Patterns of Human Malformation in 1970, and Josef Warkany’s Congenital Malformations in 1971. The American Journal of Medical Genetics began publication in 1977. The American Board of Medical Genetics (now the American Board of Medical Genetics and Genomics), the original professional certifying organization for medical geneticists and genetic counselors, was incorporated in 1980. These achievements are hallmarks of a nascent profession working to establish its professional scope and legitimacy. They resulted in the creation of jobs, hospital departments, clinical laboratories, a research tradition, the profession of genetic counseling, and eventually contributed to the expansive growth of prenatal testing and commercial genetic testing laboratories.
Historians of science have offered several explanations for this post-WWII growth, such as increasing sophistication of genetic knowledge, an ethical reckoning with eugenics, advances in medical technology, and epidemics of teratogenically-induced fetal conditions such as fetal rubella syndrome and fetal thalidomide syndrome in the 1950s and 1960s. While these were contributing factors to the formation of the Medical Genetics specialty, I would argue that they were secondary rather than primary factors. Medical genetics was built primarily on the minds and bodies of people with genetic and congenital disabilities. Disability – and social attitudes toward it – was the initial raison d’être for medical genetics and the associated genetic counseling. Of course geneticists saw patients for indications other than disability. For example, a very common reason for referral to genetics clinics was to try to determine the ultimate racial appearance of an infant up for adoption so that it could be placed with a “racially appropriate” family. But the primary clinical focus of the early genetics clinics was the clinical evaluation of people with disabilities. No disability then no medical genetics (or at least a medical genetics that would have looked very different).
How can I make such a claim? Well, during this period there wasn’t much in the way of treatment for most genetic conditions. Instead, geneticists focused on describing the bodies of people with disabilities in painstaking clinical detail. Naming and identifying syndromes and their differences and sub-types. Determining the likelihood of a condition occurring or recurring. Describing anatomical structures that have gone embryologically awry. Measuring the distance between the eyes, the length of the philtrum, the distal phalanges, the head circumference. Noting the angle of the palpebral fissures, the insertion of the ear, the location of the anus relative to the genitalia. Commenting on the presence or absence of a single palmar crease, soft tissue webbing, fifth finger clinodactyly. How the bodies of people with disabilities were dysmorphic, malformed, deformed, and disrupted. In short, how their bodies differed from the “norm.” This gave medical geneticists a common vocabulary with which to communicate with one another, unique clinical skills, and it provided scientific legitimacy to their efforts. It also undoubtedly didn’t make people with disabilities feel good about their bodies. Nor would the stark clinical photographs published in genetics books and journals that sucked the dignity and humanity right out of the patients (often pictured naked and with their eyes blackened out).
This approach to patient care allowed the first waves of medical geneticists to establish their clinical expertise and carve out a professional niche that set them apart from pediatricians, neurologists, and other medical specialists. No other branch of medicine focused so heavily on parsing out human macro- and micro- phenotypic variation. A medical specialty was born.
Every medical specialty has its clinical focus, usually defined by specific diseases or organ systems. Oncologists treat cancer patients. Nephrologists care for patients with kidney disease. Cardiovascular specialists manage patients with heart disease. These patients were regarded as “normal” people with unfortunate diseases that needed to be treated and cured. People with disabilities were regarded as unfortunate people who needed to be prevented, reflecting prevailing social attitudes of this period. The genetic counseling provided during that time echoed these attitudes. Despite disavowals of eugenics, post WWII genetic counseling focused on avoiding the births of disabled bodies.
This is not to imply that medical geneticists during this period were bad people who intentionally and callously used the bodies of people with disabilities for personal and professional gain. These men (and they were almost exclusively males) were for the most part kind and compassionate physicians who cared deeply about their patients and usually treated them with respect and dignity, just like almost every medical geneticist I met throughout my career. Many patients were very grateful for the care they received in medical genetics clinics. It wasn’t a matter of bad physicians providing sub-standard medical care for devious purposes and personal gain. Rather, medical genetics was an outgrowth of the ableist and anti-disability structure of medicine and of society as a whole.
There was of course some level of reciprocity. People with disabilities and their families could benefit from the services provided by medical geneticists. A syndrome name to help end the Diagnostic Odyssey. Anticipatory medical and developmental guidance, referrals to neurologists, surgeons, educators, physical therapists, and other specialists who might treat and care for patients’ often complicated medical issues. A medical home where patients could make sure their often complex medical needs were being tended to and coordinated by a single care provider. An expert authority who could provide education and knowledge about often rare conditions that were beyond the clinical knowledge of pediatricians and other non-genetics providers. But the benefits were asymmetric. Patients and their families came away with perhaps recurrence risks, maybe a syndrome name, and some idea of what their medical and developmental futures might look like. But people with disabilities have managed to survive and live their lives since the dawn of humanity (though now always pleasantly) without the existence of medical geneticists. Medical geneticists, on the other hand, gained an entire profession. They needed the bodies of people with disabilities in order to create careers and a brand new medical specialty.
Medical geneticists today still care for patients with disabilities, though the situation is more nuanced and complex than in the past. Patients are generally treated with greater respect and have greater autonomy. Medical geneticists and genetic counselors have expanded their scope of practice to conditions beyond disability, such as cancer, neurological disorders, cardiovascular diseases, pharmacogenomics, and psychiatric conditions. Social attitudes toward disability are less negative than they once were and this is reflected in the way genetic counseling is provided. Genetic analysis has become more sophisticated. There are more treatment and management options for the health problems associated with genetic conditions, helping some people with disabilities and their families lead richer, healthier, and fuller lives.
Nonetheless, the historical tensions persist. Patients and providers often have different views of what constitutes a disability and what disorders need testing, treating, and curing. The list of conditions amenable to prenatal testing grows exponentially, usually with little or no input from the people and families affected by the conditions. The value of people with disabilities is often still measured in economic terms. Structural, conscious, and unconscious ableism is ubiquitous, even among the most sensitive and supportive providers and institutions. We’ve come a long way, but it’s still a long haul to go.
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* -The Macklin and Hogben references were the earliest I could find on the origin of the term “medical genetics.” If readers are aware of earlier references, please let me know.
** – Human, plant, and drosophila chromosomes had been analyzed since the early decades of the 20th century. However, the crude laboratory techniques did not always allow for accurate analysis or even correct chromosomes counts. The word karyotype was coined by the Soviet plant geneticist Grigory Livitsky around 1930. Like many Soviet geneticists of the Stalin era, Livitsky was arrested and eventually died in a Soviet prison in 1942 after ideological clashes with Stalin’s favored geneticist, the notorious Trofim Lysenko. Lysenko rejected Mendelian genetics and his scientifically misguided agricultural policies led to catastrophic crop failures, widespread famine, and millions of deaths in the Soviet Union and China, which also followed Lysenko’s lead. As with the Covid pandemic, millions of avoidable deaths resulted from a rejection of sound science and research.
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