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My doctor is recommending an exome genetic test, what is that?
Our genome, or DNA, is how we refer to the information contained in our cells which provides the ‘recipe’ to create an individual. Exons are the parts of our DNA that provide instructions to create proteins, and they make up around 1% of our DNA. Proteins are important for our cells to carry out their functions (E.g., helping us grow, digesting our food, keeping our hearts beating). Together, all of the exons in our genome are known as the exome, and the method of sequencing them is known as whole-exome sequencing (WES). This approach to testing looks for genetic changes in exons of all genes. WES is thought to be an efficient method to identify possible disease-causing genetic changes (i.e. pathogenic or likely pathogenic variants, also called mutations) because most known variants that cause disease occur in exons.
Why did my genetic counsellor ask me to contact them again in a few years to get updates on my genetic testing results?
We all have differences in our genes. Most of those differences do not cause us any harm and simply lead to our individuality. However, some of the differences in genes can lead to health conditions. We call these changes harmful or pathogenic. In some cases, the lab will be unable to say with certainty if a genetic difference will or will not be harmful. We call these uncertain results variants of uncertain significance (VUS). The lab may be unable to clarify due to many factors, but typically there is not enough information in the genetics literature to say with certainty if your genetic difference is harmful or not. In a few years, new information may be available to clarify if the change is related to the health issues that you have or that is present in your family and therefore it may be helpful to recontact your genetics team.
DISCLAIMER
The materials and information presented by the Canadian Association of Genetic Counsellors (“CAGC”) on this platform is for general informational purposes only. It is not advice and is not intended to create a client relationship. It is not a substitute for advice from a medical practitioner and any party with personal medical questions or in need of medical assistance should seek advice from a qualified professional. The field of genetics continues to evolve, which means, despite reasonable efforts to maintain the information provided on this platform, CAGC cannot guarantee the same is current or correct. CAGC expressly disclaims all liability with respect to actions taken or not taken based on information which it provides or omits on this platform.