An introduction to the history and importance of genetic counselling

By Caitlin Davies

Genetic counselling refers to the transfer of knowledge about genetic disorders from a trained professional to affected families, individuals who are at an increased risk of developing a genetic disorder or affected individuals who are concerned about their reproductive future as well as supporting the individuals through the psychological implications of the disorder (WHO, no date). The term ‘genetic counselling’ was first used by Sheldon Reed, who explained the profession to be ‘a kind of social work without the eugenic connotations’ after the first medical genetics clinics were established in the UK and the US in 1947 (Resta, 1997), (Resta, 2018). This definition was important to Reed, as he aspired to escape the eugenic shadow left by the previous generation of geneticists and actually help affected families to understand the varied implications of genetic disorders (Resta, 1997). This is what set Reed apart from his colleagues and led to him being a very influential figure in perpetrating the shift to viewing genetic disorders as medical problems, rather than social problems. This is because Reed realised through his own clinical experience, that families were most concerned about how their genetic disorders would affect their own lives, how it would affect their children lives and how it may affect their future reproductive plans and had no interest in eugenics or the future of the human gene pool (Resta, 1997). Ultimately, the shift meant the outcomes of genetic counselling were no longer meant to “benefit or improve society”, but instead improve the lives of the affected families themselves (Resta, 1997). 

Before Reed and the reformed definition of genetic counselling, most early geneticists were not themselves clinicians, but rather university professors or individuals working within an academic institution (Resta, 2018), (Gabor and Zoltan, 2017). Additionally, because of the lack of diagnostic genetic tests available at the time, early geneticists relied on empirical observations, physical examinations and family pedigree charts (Resta, 2018), (Gabor and Zoltan, 2017). The limitations of these methods however, meant there were rarely accurate estimates for the recurrence risk and the lack of available treatment options for genetics disorders pushed the view among early geneticists that “all disability was bad” and that “decreasing the prevalence of harmful traits” among the human population was important for human evolution and the future gene pool (Gabor and Zoltan, 2017). Furthermore, early geneticists believed their academic expertise allowed them the right to give directive advice to affected individuals about whether they should reproduce or not, a motive that fit well with the eugenics movement present at the time (Gabor and Zoltan, 2017).

Fortunately today, eugenics plays no further role in genetic counselling and the aim instead is to educate families and affected individuals about their disorders in a kind and compassionate manner with an important focus on non-directiveness when discussing reproductive options (Resta, 2018). However the role of genetic counsellors has expanded way beyond just informing affected individuals on reproductive outcomes. Today, there are many genetic counsellor positions found within non-reproductive fields such as oncology and cardiology as well as working closely alongside surgeons (Resta, 2018). These positions are especially important and can help guide individuals through making life-changing decisions. For example, a genetic counsellor is an essential support figure for a woman who has been informed she posses a BRCA1 or BRACA2 mutation that increases her risk of developing hereditary breast cancer or ovarian cancer at some point in her lifetime (Ovarian Cancer Action, no date). The genetic counsellor can discuss the risk and then the preventative options available to the affected women, which may include having a preventative mastectomy or hysterectomy (Ovarian Cancer Action, no date), and support her through making a fully informed decision about how she would like to proceed.

Additionally, the completion of the human genome project and the development of next generation sequencing technologies has also expanded the field further. Previously in the pre-next generation sequencing era of genetic counselling, geneticists focused on Mendelian diseases or single-gene disorders whose phenotypes were more easily distinguished and estimated in subsequent generations using pedigree charts (Yang and Kim, 2018). However, the development of next-generation sequencing technologies has enabled geneticists to analyse multiple genes simultaneously and allows them to investigate the relationship between the different variants identified and how they produce a certain phenotype (Yang and Kim, 2018). However, this has increased the complexity and workload of genetic counsellors due to dealing with affected individuals on a case by case basis, rather than being able to summarise a group of affected individuals with a single-gene disorder together. Pre-next-generation sequencing genetic counselling had its own ethical considerations such as autonomy issues, privacy issues, coercion issues to name a few (Yang and Kim, 2018) but it is important issue to note that next-generation sequencing has unenveloped a whole new set of associated ethical issues. These include unearthing unsolicited findings during the testing process which is where other mutations or variants are discovered that the individuals were not previously aware of while testing for a different mutation (Yang and Kim, 2018). A subsequent issue can be not knowing whether the new variants discovered have any significance and whether the individual therefore has the right to know about these new findings, as informing the individual of these may cause unnecessary harm.

As a result, the role of a genetic counsellor within healthcare is becoming increasingly more important as well as increasingly more complex as new genetic technologies become available. The role should not be taken lightly, as there are a number of ethical issues that must be considered when supporting clients undergoing genetic counselling and these should be constantly reviewed. It is also essential that moving forward the distinction between genetic counselling and a eugenics movement is continued. Emphasis should always be on improving the affected individual’s own quality of life and listening to their own needs and requirements. Finally, if all of these factors are considered, the success of genetic counselling will continue to be well respected. 

References:

Gabor, Nandor Than and Papp, Zoltan (2017) ‘Ethical issues in genetic counseling | Elsevier Enhanced Reader’, 43, pp. 32–49. doi: http//dx.doi.org/10.1016/j.bpongyn.2017.01.005.

Ovarian Cancer Action (no date) BRCA mutations: everything you need to know, Ovarian Cancer Action. Available at: https://ovarian.org.uk/ovarian-cancer/brca/brca-mutations-everything-you-need-know/ (Accessed: 20 October 2020).

Resta, R. G. (1997) ‘The Historical Perspective: Sheldon Reed and 50 Years of Genetic Counseling’, Journal of Genetic Counseling, 6(4), pp. 375–377. doi: 10.1023/A:1025692709074.

Resta, Robert G (2018) ‘What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling | Elsevier Enhanced Reader’, 62, pp. 300–307. doi: 10.1016/j.ejmg.2018.11.003.

WHO | Genetic counselling services (no date) WHO. World Health Organization. Available at: https://www.who.int/genomics/professionals/counselling/en/ (Accessed: 19 October 2020).

Yang, M. and Kim, J.-W. (2018) ‘Principles of Genetic Counseling in the Era of Next-Generation Sequencing’, Annals of Laboratory Medicine, 38(4), pp. 291–295. doi: 10.3343/alm.2018.38.4.291.

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