The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing

Abstract

The New Zealand Neuromuscular Disease Registry (NZ NMD Registry) is part of the TREAT NMD Alliance, an international network that provides infrastructure ensuring the most promising new therapies reach neuromuscular patients as quickly as possible. Its main aim is to ensure that the most promising new therapies reach patients as quickly as possible. From the perspective of researchers interested in trialling treatments it is useful to have data on the pool of potential research participants. From a patient's perspective it is important to know what trials they can take part in. Both of these require a confirmed molecular diagnosis in the patient. Some therapeutic strategies not only require knowledge of which gene is affected but are targeted at specific mutations within the gene. In reviewing data held in the NZ NMD Registry it was noted that, of those diagnosed with a genetic condition, only 51% have a confirmed molecular genetic diagnosis. This low rate of genetic diagnosis is a potential barrier to research participation but can be removed with improved genetic technology and with changes in knowledge about and attitudes towards genetic testing.

Keywords: Molecular diagnostic testing; Neuromuscular diseases; Patient registries; Rare diseases.