“A genetic counsellor is like air conditioning. When you do not have it, you do not realise you are missing it, but when you have it, you cannot live without it.” — Emeline Davoine, French geneticist
Earlier this month, Joan H. Marks passed away at the age of 91. Marks was a pioneer of genetic counselling. She acted as the director of the graduate program in genetic counselling at Sarah Lawrence College in Bronxville for 26 years. At the start of her tenure, doctors approached Marks with a lot of scepticism. They believed that anyone without a medical degree could not understand the intricacies of genetics. As a result, she saw a clear need for skilled counsellors who could explain genetics in plain language to patients and guide them through the process with compassion.
Today, genetic counsellors are an integral part of healthcare systems, providing support and guidance to individuals undergoing genetic testing. Here, we explore the origins of genetic counselling and the value of this practice now and in the future.
Origins of genetic counselling
Around the turn of the 20th century, shortly after William Bateson suggested that the new study of heredity be known as ‘genetics’, the practice of advising people about inherited traits began. The eugenics movement shortly after emerged, which ultimately had disastrous consequences. For example, many states in the US had laws mandating sterilisation of certain individuals. In addition, countries like Germany legalised euthanasia for the ‘genetically defective’.
The term genetic counselling was first coined by Sheldon Clark Reeds in 1946. As knowledge grew, genetic counselling clinics shifted away from being mostly run by non-medical scientists to becoming medicalised. Thereby, representing one of the key components of clinical genetics. Nonetheless, experts only recognised the importance of a psychological basis as a key part of counselling later on. In the US, the first master’s degree genetic counselling program commenced in 1969 at Sarah Lawrence College. Global expansion of genetic counselling in the early 1990s resulted in the transition from medical physicians solely providing genetic counselling to an international allied health profession. Now, genetic counselling (or also known as genomic counselling) is a healthcare profession with a presence in nearly all medical specialities. Most frequently rare diseases and oncology.
Role in the genomics era
The National Society of Genetic Counsellors (NSGC) in the US defines genetic counselling as: “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.” This process integrates the following:
- The interpretation of family and medical history to assess the risk of disease occurrence and/or recurrence
- The education about inheritance, testing, management, prevention, resources and research
- Counselling to promote informed choices and adaptation to the risk or condition
Additionally, many genetic counsellors now also work in laboratory, research, industry, education, policy and advocacy positions.
Over the years, genetic counsellors’ roles have evolved from simply just drawing pedigrees to the present ‘non-directive approach’. In this approach, counsellors provide information and feedback to patients on the inheritance or risk of developing a particular disease. Genetic counsellors work as part of a multidisciplinary healthcare team. They provide expertise in the science of genetics, but also facilitate the more difficult conversations.
The future of genetic counselling
With the mapping of the Human Genome Project in 2001 and the advancements in genome sequencing technologies, the role of genetic counsellors has become more important than ever. This became prominent during the UK’s 100,000 Genome Project where the reality of the transition from research to clinical care became clear. While it is a growing profession, it is still relatively small. There are approximately 7,000 practitioners in over 28 countries worldwide. Most importantly, in the UK, there are only a few existing routes into this practice. The ongoing demand for a skilled workforce will require a wider range of accessible routes for individuals to develop relevant skills.
Genomics will continue to be integrated throughout healthcare systems and become more relevant in patients’ lives. As a result, it is important that the skills of genomic counselling are diffused among healthcare professionals, in order to support this transition. Additionally, as shown with the ongoing COVID-19 pandemic, it is also important for this practice to embrace technological solutions. With an ongoing demand for genetic services, these technologies could provide a more convenient option for genetic counsellors to deliver genetic services as well as reduce travel and wait time for patients. Genetic counsellors must be open to adapting to evolving models of care, ensuring their knowledge and skills are appropriately translated to others.
The reference earlier to Charles Xavier is fitting. Xavier is a scientific genius in the science-fiction film series X-Men and a leading authority in genetics. He can detect individuals possessing ‘the mutant gene’ and guides the other characters in how to channel their powers. In some ways, this is what genetic counsellors do. They bridge the gap between the science and the patient. They support and guide patients, while having a detailed knowledge of the genetics. Moreover, they are a vital component of the genomics era and will continue to play an integral role in the integration of genomics throughout healthcare systems. They are a new class of superhero.
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