Genetic counsellors provide advice to patients and family members, and help people make sense of their genetic diagnosis. They turn medical jargon and statistics into information that’s clear and understandable, so that even someone with no previous knowledge of genetics can make decisions about their health. But where does this field come from, and why is it called genetic counselling?
How genetic counselling got its name
The phrase “genetic counselling” is attributed to Sheldon Reed. He had a background in fruit fly genetics, but in 1947 he became director of the Dight Institute for Human Genetics at the University of Minnesota. Here, Reed would often be contacted by clinicians in the area, who asked for advice on the genetic conditions of their patients. Other genetics experts would get similar requests, and Reed was looking for a way to describe this aspect of their job. According to his 2003 obituary in the American Journal of Human Genetics, he “rejected [the term] ‘genetic hygiene’ as being associated with toothpaste and deodorants”. When he then suggested to call it ‘genetic counselling’, the other advisory board members of the Dight Institute advisory committee “were not overly enthusiastic, but they accepted it, not having anything better to offer.”
A troubling past
The Dight Institute was founded in 1941, and funded by the estate of Charles Fremont Dight. At his death in 1938, Dight had left the University $200,000 to set up the institute to provide education, research and advice related to human genetics.
While that reads like a noble goal, Dight was, unfortunately, a eugenicist. He hoped that the institute in his name would use knowledge of genetics to drive unwanted traits out of the population. Dight wrote pamphlets promoting sterilisation of “defective” people (which not only included people with various mental health problems and neurological disorders, but also simply people “lacking altruism or who are strongly inclined to some form of unsocial behavior”). He even corresponded with Hitler in 1933, and told him that he was “praising your plan to stamp out mental inferiority among the German people”.
This sort of thinking was not uncommon at the time (remember, this was before WWII), but even today some aspects of genetic counselling – in particular, prenatal diagnosis – are occasionally compared to eugenics. In 2003, Charles Epstein, President of the American College of Medical Genetics, emphasised that modern day prenatal diagnosis (and associated genetic counselling) is about family planning and individual choices, not about population control. If one family decides not to have children out of fear of passing on a genetic disease, they do so with their own immediate family in mind – not the entire population.
The first genetic counsellor training programmeUntil the late 1960s, genetic counselling was something that geneticists did in addition to the rest of their job. There were a handful of genetics centres at universities and hospitals around the world, where staff supported clinicians whenever they encountered a patient with a known hereditary condition. But there weren’t yet any full-time careers for genetic counsellors, like there are today.
This changed in 1969, when Melissa Richter founded the first masters-level training programme for genetic counsellors at Sarah Lawrence College. She developed the course for the university’s Center for Continuing Education, which provided opportunities for women to continue the university education they previously abandoned for marriage or family life. Richter believed that a genetic counsellor training programme would be especially suited to women, “because they generally are more concerned with health and the preservation of life”.
To get support for the programme, she wrote to medical geneticists across the country. The launch of the first genetic counselling degree was part of a new era of genetic counselling, in which patient care was central.
Richter’s programme collaborated with clinics and institutes around New York City to offer the world’s first genetic counselling students practical internship positions and world-class genetic medicine training. The first students with genetic counselling degrees graduated in 1971.
Other universities followed suit, and at the moment there are genetic counsellor training programmes in several countries around the world.
Genetic counselling today
What started out as a task on the side of other genetics work has become a field of its own. Several societies and associations, such as the NSGC and the AGNC, connect genetic counselling professionals around the world, and provide ongoing training and support. In several countries, including the USA and UK, genetic counselling is a registered and accredited profession, which helps further advancement and regulation of this growing field.
While early genetic counselling was often focused on hereditary conditions and family planning, modern-day genetic counsellors catch a much wider net. Genetic counsellors are often the people communicating about the possible impact of genetic variants whose role in disease is still uncertain. Increasingly people may need to discuss several genetic variants, in different genes, that may or may not be relevant to their current medical concern. With the advance of precision medicine it is probable that genetic counsellors will have a role is discussing treatment options in relation to a patient’s genetic information.
Genetic counselling is a field with an interesting history that’s closely tied to societal changes of the 20th century – from eugenics to second-wave feminism. One thing hasn’t changed: the main goal of genetic counselling is to clarify the meaning of genetic diagnoses, and to help people navigate decisions. And with the increasing number of people who are having their genomes sequenced, the work of genetic counsellors has only just begun.
Image: La Conversación by Étienne Pirot. Sculpture in the Plaza de San Francisco, Havana