Genetic counselling

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Genetic counselling is a process that provides information and support to individuals and families at risk of, or with, a genetic condition.

Key points

  • Genetic counselling is a process of providing information and support to individuals/families at risk of, or with, a genetic condition.
  • Genetic counselling can be provided by trained genetic counsellors or physicians, including medical geneticists.
  • Reasons for genetic counselling can include assessment of a possible genetic condition, discussion of genetic testing options/results, providing information regarding a specific genetic diagnosis, or understanding the risks of having a child with a genetic condition during a pregnancy.

What is genetic counselling?

Genetic counselling is a communication process to help individuals, couples and families understand the risk or adapt to the news of having a genetic condition or having a child with a genetic condition. This includes providing psychological support to patients and families as they adapt to a genetic diagnosis, understand possible treatment/management options or plan for future children. Genetic counselling can also help determine whether other at-risk family members should seek testing. It can be provided by trained genetic counsellors or physicians, including medical geneticists.

Who are genetic counsellors?

Genetic counsellors are health professionals with specialized training in genetics and counselling. They are valuable members of a health-care team who provide information on genetic disorders including how a genetic disorder is inherited, the risks associated with having that disorder and how it can be managed. Genetic counsellors are trained to support individuals who are adapting to a genetic condition and help them make informed medical and personal decisions.

The role of a genetic counsellor is to:

  • Interpret family and medical histories to assess the chance that a genetic condition may occur or recur in a family.
  • Provide education about the condition, how it is inherited, and options for testing, management, and prevention.
  • Provide support resources to families.
  • Discuss opportunities to participate in research studies.
  • Provide counselling so that families can make informed choices based on their goals, and ethical and religious values.
  • Support patients and families as they adjust to the diagnosis of a genetic disorder or to information about the chances of having a child with a genetic disorder during a pregnancy.

Reasons to seek genetic counselling

Planning a pregnancy

You can seek genetic counselling when planning a pregnancy if you have a family history of a genetic condition and want information regarding the risks of having a child with the same condition. Counselling involves talking about possible genetic testing options either before or during a pregnancy. If you or your partner have experienced multiple miscarriages, you may be referred to a genetic counsellor to discuss possible testing and options for assisted reproductive technologies like in vitro fertilization (IVF), where an egg is fertilized by sperm outside of the body. If you have a child with a genetic diagnosis, you can speak to a genetic counsellor regarding the chances of having another child with the same condition and your options for testing before or during pregnancy.

During a pregnancy

Genetic counselling during pregnancy can include talking about the results of a prenatal screening as well as addressing any possible genetic risks based on your family history. You and your partner may be offered diagnostic testing to try to determine if a pregnancy may be affected with a genetic condition. This testing usually involves taking small samples of either the placenta or amniotic fluid. You will be supported to make informed decisions that are consistent with your own personal, ethical and cultural values.

During childhood

Genetic counsellors can speak to you if your child is showing symptoms of a possible genetic condition or is at risk for a genetic condition. Often this visit will also include being seen by a clinical geneticist who will examine your child for specific features of a genetic condition. The genetic counsellor will discuss the options of genetic testing with you. You may have the option to choose which types of results you would like to receive from testing, if those results are not related to your child’s primary medical condition.

If a genetic condition is confirmed, genetic counsellors will provide information and psychological support to help you and your family adapt to your child’s diagnosis and understand their treatment and management options. You may be provided with written or digital information and support resources. Genetic counsellors will also provide information and recommendations for other members of your family who may also be at risk for a genetic condition and help you share valuable information with each other.

During adolescence

Genetic counsellors work directly with youth affected with a genetic condition as they transition from paediatric to adult care . They can provide information and psychological support as your teen adapts to their diagnosis and understands their treatment and management options. A discussion regarding your teen’s future reproductive risks will also be had with them. This is a valuable conversation, as many teens often have not had this discussion with their other health-care providers. Your teen will be provided with written and digital information and support resources that are targeted to young people.

During adulthood

Some common medical conditions that affect adults, like cancer and heart problems, can have a genetic component. If you are at risk of a genetic condition, a genetic counsellor can help you understand your options for genetic testing and how testing may impact your life and the lives of your family members. Counsellors can provide valuable psychological supports for you to make informed decisions about genetic testing, adapt to your genetic diagnosis, and understand the management and treatment of your condition. Genetic counsellors can also provide guidance for testing in other at-risk family members.

Last updated: June 13th 2022