Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.

Autor: Pickart AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Martin AS; Parent Project Muscular Dystrophy, Washington, District of Columbia, USA., Gross BN; Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dellefave-Castillo LM; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., McCallen LM; Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA., Nagaraj CB; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Schultz CP; Ambry Genetics, Aliso Viejo, California, USA., Ulm EA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Armstrong N; Parent Project Muscular Dystrophy, Washington, District of Columbia, USA.
Jazyk: angličtina
Zdroj: Journal of genetic counseling [J Genet Couns] 2024 Apr 29. Date of Electronic Publication: 2024 Apr 29.
DOI: 10.1002/jgc4.1892
Abstrakt: The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA-approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype-phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies.
(© 2024 National Society of Genetic Counselors.)
Databáze: MEDLINE
Externí odkaz: