Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological, and family implications of a genetic disease. Genetic counseling is usually done by a board-certified genetic counselor with master’s level training in genetic counseling, or by a geneticist (a doctor who specializes in genetics).
Parent Project Muscular Dystrophy’s Decode Duchenne program features board-certified genetic counselors who have expertise in Duchenne and are available to answer your questions. Learn more about Decode Duchenne and contact a genetic counselor.
How does genetic counseling benefit my family?
For families living with Duchenne, genetic counseling can offer several benefits, including:
- Education about inheritance, chance of recurrence and family planning options
- Coordination of genetic testing for affected individuals and possible carriers
- Interpretation of genetic test results
- Counseling to explore emotional/family issues and to recommend resources
- Research opportunities
A genetic counselor can explain the cause of muscular dystrophy, the typical symptoms, and course of the disorder. In addition to focusing on the affected child, the genetic counselor will also consider the immediate and extended family to determine who else could be impacted by the disorder. The chance for Duchenne to happen again (the “recurrence risk”) is determined, and family planning options are discussed. You can contact one of PPMD’s board-certified genetic counselors who have expertise in Duchenne.
Coordination of genetic testing
Genetic counselors can coordinate diagnostic genetic testing (for individuals with a known or suspected diagnosis) and carrier testing (for women at risk to be carriers). Genetic counselors work with families and their primary care providers to determine the best testing strategy, based on their specific needs, what testing has already been done, as well as insurance coverage/financial issues. Read more about genetic testing.
Interpretation of genetic test results
Now more than ever, it is crucial that families know and understand the genetic mutation in their family. Based on the mutation identified, genetic counselors can discuss mutation-specific therapies that are either approved or in clinical trial. Genetic counselors can also help families and healthcare professionals understand the meaning of the results, and can discuss options for follow-up testing, if necessary.
Counseling and resources
An important role of the genetic counselor is to help families identify and manage the strong emotions that often come with having a child with Duchenne. The diagnostic process itself can be emotionally difficult for families. Genetic counselors can offer support during this time, and provide referrals for longer-term counseling. Genetic counselors can also connect families with national advocacy organizations, like PPMD, as well as local support groups.
Genetic counselors with a special interest in Duchenne, or neuromuscular disorders in general, can usually provide information about actively recruiting research studies and clinical trials. Genetic counselors can help families determine which studies or trials are available and which ones may be right for their family. If you are overwhelmed with the thought of a clinical trial, consider using our Clinical Trial Decision Guide.
Where do I find a genetic counselor?
You are always welcome to contact one of PPMD’s board-certified genetic counselors who have expertise in Duchenne. Other ways to find a genetic counselor include:
- If you have a child with Duchenne or Becker muscular dystrophy, you can ask your child’s pediatrician or neurologist for a referral to a genetic counselor. In most cases, you and your child will be seen by a physician geneticist and a genetic counselor. In addition, genetic counseling should be available at most neuromuscular specialty clinics, such as PPMD’s Certified Duchenne Care Centers.
- If you are female and have questions or concerns about your chance of being a carrier, or of having children with muscular dystrophy, ask your healthcare provider or your OB/GYN for a referral to genetic counselor.
- If you need help finding a genetic counselor in your area, you can visit the National Society of Genetic Counselors and click Find a Genetic Counselor.