An Introduction to Genetic Counselling

One of the key facts of Inherited Metabolic Disorders are that they are inherited and part of your genetic makeup. When you discover that you or your child has an Inherited Metabolic Disorder, you may look into genetic testing to see if you’re a carrier of the condition and how this might have an impact on a future pregnancy. Here we’re giving a quick introduction to Genetic Counselling and how you might benefit from this.

What is Genetic Counselling?

Genetic Counselling is a service offered to people who are, or who may be, genetically linked to an inherited condition, including:

  • Anyone diagnosed with a rare genetic disorder and their families.
  • Expectant parents undergoing prenatal testing.
  • Adults looking to learn more about their risk of inheritance.

Genetic Counselling is available prior to genetic testing as well as during and after the test, to ensure that the process is fully explained and understood, and to provide a safe place to discuss feelings, thoughts and ideas. When accessing Genetic Counselling, everyone is different. Each person has their own worries and concerns, their own reasons for attending, and different family dynamics to consider. The Genetic Counsellor will provide empathy and understanding, and remain impartial throughout the process, to enable you to discuss your emotions as you learn more about the tests available, the risks of inheritance, and any results and their implications.

What should I expect from my appointments?

During a Genetic Counselling session, the Genetic Counsellor will try to gain an understanding of your family history, including any history of medical problems and specific conditions within the family, which will help identify the risk of inheriting a condition. This section also helps the Genetic Counsellor understand your relationships with other family members.

The Counsellor will discuss any current understanding that you may have about inheritance. You will be introduced to the Genetic Counsellor’s interpretation of your family’s medical history, and inheritance patterns may be explained to you through drawings or diagrams, to help you understand the facts. They will answer any questions and concerns that you may have as well as discussing how you may feel about this information.

They will discuss any genetic testing that may be available and will fully explain the process to you. A genetic test inevitably causes anxiety and can be stressful, especially whilst waiting for results. The Counsellor will discuss your feelings with you and help you make sense of your thoughts and concerns. They will also signpost you to any resources which may help you.

If you receive a positive result, the Counsellor will talk through your reaction to this news, explore your feelings, and discuss this with you. They will provide you with plenty of information and support to empower you to make informed choices and feel able to talk to other family members. If your result has shown that you are likely to develop the condition later in life, the Genetic Counsellor will help you adjust to this and make sense of any required steps to monitor and manage the condition.

It is the role of Genetic Counsellors to ensure that you have fully understood the inheritance patterns, genetic testing process and the result, and that they provide a safe space to discuss concerns and worries. At the Metabolic Clinics, you will often find Genetic Counsellors who specialise in Metabolic conditions, and who work as part of the multidisciplinary team involved in your, or your child’s, care.

This video from the Genetics Education Programme at Health Education England provides an introduction to the role of Genetic Counsellors:  https://tinyurl.com/y4t4ueqe

If you would like more information on Genetic Counselling or some advice on whether it would be beneficial to your care, please contact our Core Services team on contact@metabolicsupportuk.org or 0845 241 2173.