PPMD is pleased to share that a new genetic counseling practice resource for dystrophinopathies, including Duchenne and Becker muscular dystrophy and carriers, has been published in the Journal of Genetic Counseling. 

PPMD Certified Genetic Counselors, along with other board-certified genetic counselors from the National Society of Genetic Counselors (NSGC), served as authors of this practice resource, for which PPMD provided official endorsement. This practice resource aims to address the unique and complex aspects of genetic counseling for Duchenne and Becker muscular dystrophy and carriers, all the dystrophinopathies, and ensure that patients and their families receive optimal genetic counseling services and care. 

Advancements in the Duchenne space in recent years, such as updated natural history data, broadened treatment options, and the use of expanded carrier screening, have evolved our understanding of dystrophinopathies. This practice resource serves as a reference for genetic counselors and other healthcare professionals regarding best practices for genetic counseling specific to these conditions.

Given the expanded reach of genetic testing today, this resource is a timely tool for a variety of clinical settings. Genetic counseling may be part of diagnostic evaluation in the pediatric or adult setting in general genetics, neurology, or cardiology clinics. Additionally, patients may be counseled in prenatal or pre-conception sessions due to a family history of dystrophinopathy or as a result of positive expanded carrier screening. 

What is Included in the Practice Resource?

The complex nature of dystrophinopathies makes counseling these individuals and families uniquely challenging. This resource is a tool, for genetic counselors and the entire multidisciplinary team, to provide comprehensive background information regarding all aspects of the provision of genetic counseling for this unique patient population.

For ease of use, this practice resource is organized into sections, including:

• Background (clinical information, prevalence, and incidence)
• Reproductive Considerations
• Molecular Mechanisms
• Laboratory Investigations/Diagnostic Confirmation
• Management of Individuals with Dystrophinopathy
• Treatment
• Psychosocial Aspects of Dystrophinopathies
• Resources

Next Steps

PPMD and NSGC will aim to distribute this practice resource to a variety of healthcare professionals who may provide care to individuals with dystrophinopathies. This includes specialty physicians such as neurologists, geneticists, obstetricians and gynecologists, and cardiologists; primary care physicians such as pediatricians and family practitioners; nurses and nurse practitioners; genetic counselors; mental health professionals; and physical therapists.

Our goal is to help equip these healthcare providers with the resources and tools they need to deliver informed and compassionate care to individuals living with Duchenne and Becker, as well as carriers. 

PPMD For You

PPMD’s Certified Genetic Counselors are available to answer your questions about your child’s genetics, carrier and reproduction information, The Duchenne Registry, PPMD’s free genetic testing program Decode Duchenne, or anything else related to genetics. Additionally, through our PPMD For You program, PPMD genetic counselors can provide an overview of the current clinical trial landscape and work together with you to identify potential clinical trials that may be worth considering for your family. Schedule a 1:1 appointment with our team here.