An insight into genetic counselling

Today, to mark Genetic Counsellor Awareness Day, the Public Relations team spoke with Rebecca Macintosh, genetic counsellor at the Centre for Clinical Genetics at Sydney Children’s Hospital, Randwick, about her role.

PR: Can you explain what a genetic counsellor does?

RM: This is a question I get asked a lot. A genetic counsellor is an allied health professional who provides personalised information and support to patients and their families about their genetic health. Genetic counsellors work in a range of settings, including universities, hospitals and laboratories. We provide genetic counselling to people either diagnosed with or being investigated for a genetic condition. Here at Sydney Children’s Hospital, Randwick, the genetic counsellors provide specialised genetic counselling to patients and families with a range of complex issues, including, but not limited to, developmental delay, autism, epilepsy, hearing loss, muscle issues, kidney and respiratory problems such as Cystic Fibrosis.

PR: What does your role involve?

RM: I work in conjunction with a clinical geneticist (a paediatrician who has subspecialised in genetics), and also see patients either alone or with another subspecialist, such as a respiratory physician or immunologist. A genetic counsellor’s expertise in genetics complements the medical care provided by the doctors. We support the patients and families through the testing process and provide counselling and support to help the patient adjust to the diagnosis of a genetic condition.

PR: What happens in a genetic counselling appointment?

RM: In a standard genetic counselling appointment, the genetic counsellor discusses a patient’s family and medical history to gain a complete picture of one’s genetic risks. This information can be used to determine possible tests to undertake, and implications of results once they are available. Genetic counsellors are also able to assist with testing of the wider family – if an individual is diagnosed with a genetic condition, for example, Cystic Fibrosis, genetic counsellors facilitate the genetic counselling and cascade testing of the members of the wider family who may be affected or may be carriers of the genetic condition and at risk of passing the condition on to their offspring. In this way, genetic counsellors work with the entire family, not just an individual, and work to ensure that genetic information is disseminated to all possible at-risk family members.

PR: Why did you choose to become a genetic counsellor?

RM: It is a combination of my two great loves – talking to people and science! I like working with the families, being able to interpret information and provide support. Genetic testing can provide answers and treatment options. Sometimes just having an answer can be really beneficial for parents, it provides a sense of closure.

PR: Thank you for your time Rebecca.