By Dr Jon Hodgson

What is Genetic Counselling?“Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions. This process integrates the following:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research.
  • Counselling to promote informed choices in view of risk assessment, family goals, ethical and religious values.
  • Support to encourage the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.”
    (Resta 2006)

Genetic counselling

Genetic counselling is a relatively new profession that arose out of the recognition that people often need assistance in understanding complex genetic information. Genetic counsellors are employed across a range of health care settings and in many public hospitals genetic counsellors work as part of a multi-disciplinary team providing clinical genetic services. Most genetic counsellors have a background in science and have completed a recognised training course in genetics and counselling. After a period of supervised practice and submission of a professional portfolio, counsellors are eligible for certification by the Human Genetics Society of Australasia (HCSA). Working within a framework of ethical professional practice, Associate and Certified genetic counsellors participate in ongoing professional development and reflection.

Prenatal testing

All pregnant women are at risk of having a baby with a chromosome anomaly; the most common of these is Down syndrome, for which risk increases exponentially with maternal age. Screening tests are offered to pregnant women during the first or second trimester of pregnancy. Both tests involve analysis of a maternal blood sample. The results arc combined with other pregnancy information (and for first trimester screening, an ultrasound measurement of nuchal translucency) to produce an individual risk figure for Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18). Second trimester screening also produces a risk figure for neural tube defects such as spina bifida. Women who are considered to be at ‘ increased risk’ may be offered invasive diagnostic sampling procedures such as chorionic villus sampling (CVS) or amniocentesis in order to access fetal genetic material for further testing and obtain a diagnosis. In addition, many pregnant women are routinely offered an ultrasound examination at 19 to 20 weeks. This is frequently perceived as a time to ‘see the baby’ and women may be unaware that this seemingly ‘routine’ test may detect or suggest an increased risk for a range of fetal anomalies that may lead to an offer of invasive diagnostic testing. As both CVS and amniocentesis increase the risk of miscarriage it is very important for women and their partners to carefully consider whether they wish to have diagnostic testing. When diagnostic testing reveals a fetal anomaly, such as Down syndrome, women are usually offered a choice about continuing or terminating their pregnancy. For many women and their partners this is a difficult time, especially if they are unprepared for this outcome.

The role of the prenatal genetic counsellor

Throughout the prenatal testing journey genetic counsellors can provide information and education – about different prenatal tests, the conditions that are being tested for and the options that will be available following a diagnosis. In addition, counsellors provide support for women and their partners throughout this often challenging time. Most importantly, genetic counsellors can facilitate informed decision-making at all stages of this process by talking with women and their partners in order to ensure that they understand any risks associated with testing and by encouraging them to consider whether the available tests will provide them with information that they wish to know. Following a diagnosis of a fetal anomaly genetic counsellors offer support in decision-making about continuing the pregnancy and beyond.In summary, prenatal genetic counsellors can provide information and support for women and their partners who:

  • have a family history of an inherited condition;
  • may be at increased risk for fetal anomaly, either because of advanced maternal age or, as a result of a screening test;
  • receive a diagnosis of/are concerned about their risk for a fetal anomaly;
  • have questions about any of the above.

Access to clinical genetics services and genetic counselling varies throughout Australia according to location. To locate a genetic counsellor call your nearest public hospital or visit

To learn more about prenatal tests that are available during pregnancy you might wish to read ‘Your choice, Screening and diagnostic tests in pregnancy’.

Originally Published in Birth Matters 15/2 Winter 2011.

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