Around 8% of Australians (2 million people) live with a rare disease. About 80% of those rare diseases are genetic. This is according to the Australian Government Department of Health and Aged Care.
With those alarming percentages and the couples’ rising awareness about genetic disorders, they now consider undergoing genetic counselling before making a huge decision about having children.
Here, genetic counselling plays a pivotal role in modern family planning, empowering couples to understand their genetic health and make informed decisions about having children. It’s a specialised process where a trained genetics professional helps individuals and families understand the implications of inherited conditions and the options available to manage potential risks for their future children.
Why Consider Genetic Counselling?
Genetic counselling may be especially beneficial under certain circumstances, including:
Family History of Genetic Disorders: A known history of inherited conditions (such as cystic fibrosis, sickle cell anaemia, or Huntington’s disease) in one or both partners’ families warrants exploring associated risks.
Advanced Maternal Age: Women over the age of 35 are at increased risk for chromosomal abnormalities in their offspring.
Ethnic Background: Certain ethnic groups are at higher risk for specific genetic disorders (e.g. Tay-Sachs disease among Jews of East European ancestry with 1 in 30 frequency of occurrence).
Previous Pregnancies: Couples who have experienced recurrent miscarriages or children born with birth defects may benefit from genetic counselling.
What Happens During Genetic Counselling?
A typical genetic counselling session involves several key steps:
- Personal and Family Medical History: The genetic counsellor begins by gathering a detailed picture of your health history and the health history of both sides of your family.
- Risk Assessment: Based on this information, the counsellor assesses potential risks for genetic conditions in you, your partner and future children. They will then clearly explain these risks in a way that is easy to understand.
- Exploring Options: The counsellor will discuss available testing options, including carrier screening and prenatal diagnostic tests (e.g., amniocentesis). They’ll explain the procedures, potential risks and limitations of each test.
- Decision Support: Genetic counsellors are trained to provide non-directive counselling, offering information and emotional support to help you make informed decisions that align with your own values and goals. They will never pressure you to make specific choices.
- Resources and Referrals: Depending on your specific needs, the counsellor may provide referrals to specialists, support groups or additional resources for further information.
What to Expect from Genetic Counselling
Genetic counselling offers a space for open communication, education and support. You can expect an environment where your questions and concerns are addressed compassionately. The counsellor will empower you with knowledge regarding your options, including:
- Proceeding with family planning with an awareness of potential risks.
- Utilising assisted reproductive technologies like preimplantation genetic diagnosis (PGD) to select embryos free of certain genetic conditions.
- Exploring adoption or choosing to remain childfree.
Genetic counselling is an invaluable tool for individuals and couples seeking to make informed decisions about their family’s future. It provides an opportunity to understand genetic risks, consider the full range of options and make choices that offer peace of mind and hope regarding the health and well-being of future children.
If you want to learn more about the genetic risks that might affect your decision of having children, you can contact us today here at Mendel Genetics. If you’re in a regional and remote area and have difficulties attending a capital city for a specialist appointment, we can arrange for a convenient telehealth service.