Genetic Diagnosis and Counseling in Muscular Dystrophies

Muscular dystrophies are a large group of genetic muscle diseases, and their diagnosis has become easier, faster, more reliable, and more economical since around 2015. The advent of next generation sequencing has decreased the time and cost of genetic testing by several orders of magnitude, allowing genetic testing early in patient evaluations, often at the first clinic visit. Exome and genome sequencing further increase diagnostic yields; however, this benefit is counterbalanced by data glut, the generation of many variants of uncertain significance. Genetic counseling is integral to the genetic testing process, as counselors ensure patients are informed and prepared for the possible results. Genetic counselors interactively educate patients and families on basic genetics; possible results; potential emotional, social, and health management impacts for the patient; implications for family members; and even options around future reproductive planning. With the advent of gene-based therapies, genetic counseling and testing are now of paramount importance in the practice of medicine. With genome sequencing at birth already available as newborn screening in some healthcare systems, personalized genetics will soon serve as the template for health throughout the lifespan.