These healthcare professionals, called genetic counsellors, are part geneticist and part social worker. They provide information and support to people who may be at risk for a variety of inherited conditions, and help them decide whether to undergo testing for genetic mutations. They also counsel families who have members with birth defects or genetic disorders such as Down’s syndrome, Huntington disease, cystic fibrosis and muscular dystrophy. They work as part of a medical genetic service team. The word ‘genetics’ refers go characteristics that are inherited from one’s parents.
Prenatal genetic counsellors counsel women who are pregnant or considering pregnancy, about the risks of birth defects or other problems. Obstetricians routinely refer women who are 34 or older to genetic counsellors. In addition, some younger women also consider it necessary to consult a genetic counsellor if they have a relative with a genetic disorder.
If a patient decides to be tested, the genetic counsellor delivers the test results. If the news is bad, they need to explain the patient’s options, direct her to sources of support and assistance, and may begin a long-term relationship with her and her family. It is never easy telling people that their baby may have a problem.
In addition to prenatal tests, genetic tests for identifying a person’s predisposition to adult-onset diseases are becoming common. As the menu of genetic testing options expands, so does the pool of potential test-takers. In the past, only diseases such as muscular dystrophy, which is not common, could be tested, now it is possible to test for genetic susceptibility to common adult diseases such as heart disease, cancer and diabetes. Someday, a patient’s blood sample could be used to develop a complete genetic profile detailing his or her susceptibility to all kinds of conditions.
Genetic counsellors have their work cut out for them as the public becomes increasingly aware of the availability of genetic tests without fully understanding the science behind them. Genetic susceptibility is a difficult concept to understand. For example, just because one has the genotype for a higher susceptibility to diabetes, for example, it does not necessarily mean that the disease will develop.
However, some patients weigh their options and decide not to be tested. If there is no known prevention method or cure for a particular disease, genetic testing may be a bad idea, experts say. Counsellors help people to make informed decisions about what is best for them.
The main duties of a genetic counsellor consist of providing clinical counselling services to families with genetic disorders, conducting clinical research work on genetic diseases and even teaching genetic counselling and genetic diseases to students.