The growing significance of genetic counsellors in healthcare

Role of genetic counsellors and why it has become an important function in healthcare


The field of medical genetics has significantly grown over the past decade, to the point that it now plays a role in all medical specialties. The increasing application of diagnostic genetic testing in medicine has led to a growing need to provide care to affected individuals and their families. On Genetic Counsellor Awareness Day, let us understand the role of genetic counsellors.

Genetic Counselling is the backbone of any genetic testing. It is a communication process by which patients and their families are (i) informed about the genetic and genomic basis of genetic disorders, (ii) guided through the testing options available, and (iii) the complex technical and scientific information are explained in a simple way. 

When considering genetic testing, individuals may have several questions such as: How do we choose the appropriate test? How reliable is the test? How many times should I undergo genetic testing? Does genetic testing cause any discomfort? Will it provide answers regarding the nature and severity of the disorder? What will the information mean for me and my family? What options and resources are available? Will this affect my health, longevity, and quality of life? What does this information mean for future insurability, employability, personal and social stigma, and discrimination?

A genetic counsellor offers information and support to families affected by or at risk of a genetic disorder using appropriate and understandable language.

Genetic counsellors serve as central resources of information about genetic testing and genetic conditions, sometimes helping patients predict and prevent the onset of debilitating conditions. They assist families in understanding the implications of genetic disorders and genetic testing. Therefore, the role of a genetic counsellor has become vital in routine clinical practice, empowering patients, families, and communities to make informed and educated decisions regarding their health.

However, genetic counselling is not solely about explaining technical and scientific jargon in simple terms. It requires a combination of science, healthcare, and communication skills, as well as empathy, genuineness, non-judgemental attitude, and compassion. Genetic counsellors must possess both self-awareness and social awareness.

Counsellors need to be sensitive to the feelings of affected families when delivering realistic information, carefully choosing their words. The major ethical principles that govern the attitudes and actions of genetic counsellors are: 1) respect for patient autonomy, 2) non-maleficence, 3) beneficence, and 4) justice.

Genetic counselling differs depending on the type of genetic testing, such as diagnostic testing, predictive testing, carrier testing, prenatal testing, pre-implantation genetic testing, cancer testing, pharmacogenetic testing, etc. The counsellor faces unique challenges in each of these contexts, so the language, terminology, tone, and setting are all different and unique for each case.


Although a genetic counselling session includes a pre-test and a post-test session, multiple sessions are often required. It is a process. During the initial genetic counselling session, the counsellor will determine why the patient/family is seeking genetic counselling, followed by pedigree construction, discussion regarding the pattern of inheritance of the condition, risk of recurrence, available testing procedures, and test limitations, etc. A post-test session not only involves providing medical information but also focuses on psychosocial issues and referrals for other affected or unaffected family members.

In this era of advanced genetic technologies and the evolution of genomic medicine, information is becoming increasingly complex. Genetic counsellors will always be the bridge between technology, clinicians, and patients.

Genetic counsellors work in hospitals, genetic testing companies, and as consultants to medical practices. Their diverse set of skills, combining clinical knowledge, technical expertise, and counselling skills, allows them to work in a growing range of fields. Genetic counsellors also work in areas such as conducting or assisting with research, reading, interpreting, and writing reports for genetic testing companies, teaching in medical or graduate school programs, and working with policymakers and lawyers on policy and legal statutes specific to genetics or genetic counselling, acting as patient advocates.

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