Genetic Counselling at the Past, Present, and the Future

Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.¹ It is essentially a communication process between a professional counsellor and the counsellee (patient and/or a family member). It is more than just passing on genetic information, it promotes informed decision and therefore guides individuals' health, emotional well-being and life choices.

A French geneticist once humorously defined the service as follows: “A genetic counsellor is like air conditioning. When you don’t have it, you don’t realise what you're missing—but once you do, you can’t live without it.”²

The history of genetic counselling

Everyone is curious about their past and wants to make predictions about their future. Long before DNA testing became available, genetic diseases and inheritance patterns were identified, sparking curiosity among people with such diseases in their families. As a natural consequence of this quest, genetic counselling services began to be offered through medical doctors, and in parallel with the development of genetic science, it took on the form of an independent professional occupation in the 1960s. 

The data available to early genetic counsellors was limited. For example, determining whether other family members might also have Huntington's disease, a rare neurodegenerative disorder, after it was diagnosed in one family member was a significant challenge. Despite the disease and its familial inheritance being known for nearly 100 years, no genetic test could provide a definitive diagnosis or risk assessment. In such an environment, genetic counsellors attempted to shed some light on the situation through complex statistical calculations based on family trees. 

Over time, the increase in genetic information and the widespread use of tests have made risk assessment relatively easier; however, this has led to the identification of new diseases, the search for answers to brand new questions, and consequently, an increased need for genetic counselling. 

The present state of genetic counselling

Genetic counselling is a growing field worldwide, but the number of genetic counsellors is still insufficient. According to 2022 data, there are approximately 6,500 genetic counsellors working in the United States, which has the highest number of licensed genetic counsellors in the world. When combined with the approximately 600 counsellors in Canada, there are over 7,000 counsellors in North America. When considering counsellors registered with the European Board of Medical Genetics (EBMG) and the National Health Service (NHS) in the United Kingdom, there are approximately 1,000 counsellors in Europe. It is estimated that there are between 15,000 and 20,000 genetic counsellors worldwide.³ Even if there were an equal distribution, this would mean that there is one counsellor for every 500,000 people, which is nowhere near enough to meet current needs. 

While access is easier in developed countries, counselling services in developing countries are either newly established or none. The lack of a professional definition and the scarcity of educational programmes are among the most significant obstacles in these countries. Achieving an adequate number of counsellors will require an extremely complex, lengthy planning and training process.

The future of genetic counselling

It will be essential to develop innovative solutions to overcome the shortage of counsellors and access issues. The digitisation of counselling services stands out as one of the most strategic steps that can be taken in this regard. If patients cannot reach counsellors, they should be able to consult them remotely and access reliable resources from home for all questions that come to mind. In addition to accelerating counselling services on a patient-by-patient basis, it is expected that digital resources that can be used as materials in newly launched counsellor training programmes will rapidly become widespread in the future.

In the Genes4All project, we aim to find solutions to the problem of access with digital tools. We believe that there is no single approach that applies to all diseases, and that algorithms specific to patient-disease combinations need to be developed. In this context, we are focusing particularly on neurodegenerative diseases. We are designing a digital service delivery model for genetic counsellors, an engaging and informative serious game for people and/or relatives with neurodegenerative diseases, and an online tool that provides access to all content. We aim to globalise access to genetic counselling services by offering all our digital content in six different languages.

Increasing genetic literacy worldwide for healthy societies and an equitable future will be the primary goal for genetic counsellors…

REFERENCES: 

1. National Society of Genetic Counselors' Definition Task Force, Resta R, Biesecker BB, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. 2006;15(2):77-83. doi:10.1007/s10897-005-9014-3

2. Abacan M, Alsubaie L, Barlow-Stewart K, et al. The Global State of the Genetic Counseling Profession. Eur J Hum Genet. 2019;27(2):183-197. doi:10.1038/s41431-018-0252-x

3. Ormond KE, Abad PJ, MacLeod R, Nishigaki M, Wessels TM. The global status of genetic counselors in 2023: What has changed in the past 5 years?. Genet Med Open. 2024;2(Suppl 2):101887. Published 2024 Aug 8. doi:10.1016/j.gimo.2024.101887