Genetic counseling is a process family or individuals should undergo once a genetic condition is suspected.
Families and/or individuals at risk of genetic conditions will undertake genetic counseling either pre-pregnancy, during pregnancy, following the birth of a child, or in adulthood.
Genetic counseling may be recommended for any number of reasons. These reasons may include a suspected or known risk for a genetic disorder based on family history or following genetic screening that has identified a possible higher risk.
Why is genetic counseling important?
As part of the diagnostic journey for families or individuals with a suspected or possible genetic condition, the genetic counseling for rare disease process aims to educate, inform, and support families as they progress. Genetic counseling educates families on their genetic health status and prepares them for all of the implications of a confirmed genetic condition diagnosis. This means walking them through the full medical, psychological, and mental impact of a confirmed diagnosis.
The process of genetic counseling can also pinpoint the specific and potential implications a diagnosis may have on the whole family – both immediate and extended. As part of the process, families and individuals will be connected to community support groups, rare disease support groups, and other targeted resources to manage their diagnosis better.
When might genetic counseling be requested?
Families and/or individuals at risk for genetic conditions may undertake the process either pre-pregnancy, during pregnancy, following the birth, or in adulthood.
During pregnancy, couples may be advised to attend genetic counseling after any of the following: concerns noted during routine pregnancy screenings, an amniocentesis result that suggests a chromosomal defect, a history of inherited genetic conditions in the family.
Who leads genetic counseling?
It is led by genetic counselors, who are trained and specialized medical professionals. They will guide families throughout the process, both pre and post-testing. They will help families document their family medical history to provide a more accurate diagnosis. They can also guide families in whether to proceed with genetic analysis and genetic testing and which tests to go ahead with.
Post genetic testing, genetic counselors guide families through what the test may mean or reveal and the necessary next steps in the diagnosis and management of the condition.
Genetic counseling is a key part of the diagnosis of genetic conditions. It provides immense support and information to families and individuals as they navigate what may be a life-altering diagnosis.
If you or a family member are facing a rare disease diagnosis for a syndrome such as 3MC syndrome, then genetic counseling is essential.
