In 2012, a standard procedure was established for the genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD). Due to the increasing complexity of FSHD genetics, the rise in genetic testing centers, and the start of clinical trials for FSHD, an update on the genetic features of FSHD and international testing guidelines is needed.
Members of the FSHD European Trial Network summarized their recommendations from the 2022 ENMC meeting on genetic diagnosis, clinical outcomes, and biomarkers. They also included experts from the USA, India, Japan, Australia, South Africa, and Brazil to provide a global view. Six virtual meetings were held to agree on the basic requirements for confirming FSHD1 and FSHD2 genetically.
This update covers the clinical and genetic features of FSHD, the specific genetic features of FSHD1 and FSHD2, the pros and cons of the different genetic technologies (like Southern blot, molecular combing, optical genome mapping and methylation analysis). It also discusses the possibilities and challenges of prenatal testing, including pre-implantation genetic testing. It was recognized that the genetic testing process would benefit if genetic testing labs received more clinical information from the patient. To achieve this, a basic clinical form was created in collaboration between clinicians and geneticists.
The consensus on minimal requirements and recommendations for genetic confirmation of FSHD1 and FSHD2 is expected to improve current clinical management and trial readiness for FSHD.
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