With many rare diseases there is often an underlying genetic cause. There is a whole field dedicated to helping patients and families navigate and investigate potential genetic causes of disease; it is called genetic counseling. This page serves as introduction to this field, the medical professionals who provide genetic counseling services, and genetic disease itself. If at the end you find yourself interested in joining the field, we’ve included some information on how to become a genetic counselor.
Who are genetic counselors?
A genetic counselor is a master’s level medical professional who specializes in medical genetics and psychosocial counseling. They evaluate families’ risks for inherited medical conditions and help these families to understand the implications of those risks. Individuals who are referred for genetic counseling include those who are affected with a genetic condition, suspected of being affected, family members of affected individuals, and pregnant women with a positive family history.
An initial session with a genetic counselor includes discussing the reason for referral to genetics clinic, taking a detailed family history (usually documenting on a family tree called a pedigree), and exploring any appropriate genetic testing options with patients. You can see a genetic counselor even if genetic testing is not available for your condition.