What is pre-pregnancy genetic carrier screening?
Pre-pregnancy genetic carrier screening involves counselling and possible testing of people who are planning to have a baby, for gene mutations that cause disease.
What should medical practitioners consider when taking a genetic/family history?
Taking a careful family history is a key part of the discussion that medical practitioners should have with those who are thinking of having a baby. The family history will identify whether a man or a woman are at risk of being a carrier of a genetic condition that could be passed on to their child. This will determine if referral to genetic carrier screening is recommended.
What if the patient does not have a strong family history of a genetic disorder but wants to undertake pre-pregnancy genetic carrier screening?
NSW Health supports the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) Position Statement on Pre-pregnancy Counselling which states that all women (regardless of risk) should be informed of the availability of pre-pregnancy genetic screening and associated costs, and supported in making an informed decision about undertaking genetic testing.
Men and women without a strong family history of a genetic condition may still wish to ask a medical practitioner for a referral to genetic counselling or genetic testing when they are planning to have a baby.
What services are available to undertake genetic carrier screening?
NSW Health offers genetic services for those with a strong personal and/or family history of a genetic condition or a suspected genetic condition, provided they have a valid referral from a medical practitioner. The NSW Health Centre for Genetics Education website has information on General Genetics Clinics in NSW, including referral pathways.
Private genetic counselling services are also available. These services may be an option for those who wish to seek further advice but are not eligible for a referral to public services.
Is it possible for medical practitioners to undertake genetic carrier screening?
Patients are normally referred to specialist genetic services for genetic carrier screening. The RACGP
Clinical Guidelines: Genetic counselling and testing advises that:
‘Medical practitioners should consider referral to, or consultation with, a genetic service for testing because test results, which rely on sensitivity, specificity and positive predictive value, are not straightforward. Testing often involves complex ethical, social and legal issues. The time on waiting lists for genetic services is usually longer than one month, so direct consultation and liaison by telephone are necessary when the genetic advice could affect a current pregnancy’.
Medical practitioners with sufficient training and knowledge in genetic carrier screening may wish to undertake this process for their patients. This involves pre-counselling, ordering tests directly through a pathology service provider and post-counselling. A number of pathology services conducting genetic testing may have information to guide medical practitioners through the process.
Further information is available in RACGP Clinical Guidelines: Genetic counselling and testing.
What is the cost of pre-pregnancy genetic carrier screening?
Appointments with a NSW Health clinical geneticist are bulk billed in the first instance. Any related charges are discussed with patients prior to any intervention.
The cost of genetic testing varies depending on the tests needed. Medical practitioners should check with their pathology service provider for pricing information.
What information is available for people planning to have a baby?
The Thinking of Having a Baby brochure includes consumer information and links to health and wellbeing resources for those who are planning and preparing for pregnancy. This includes information about pre-pregnancy genetic screening. The brochure is available on the NSW Health website.
The NSW Health Centre for Genetics Education has useful resources for individuals and families on genetic screening.