Predictive testing and preemptive medicine for hereditary neuromuscular diseases : Lessons from hereditary ATTR amyloidosis

Abstract

Recent innovations in genetic analysis technology, including next–generation sequencing, have increased the importance of understanding genetic approaches in clinical neurology. In addition, disease–modifying therapies (DMTs) have become available for some inherited diseases, including hereditary ATTR (ATTRv) amyloidosis (formerly known as familial amyloid polyneuropathy, FAP), spinal muscular atrophy, and SOD1–related amyotrophic lateral sclerosis, for which there were previously no effective DMTs. Not only patients with these diseases but also at–risk individuals can dramatically improve their lives and social outcomes by identifying their genetic background through early intervention.

This review discusses the impact that the advent of effective DMTs and clinical genetical approaches for at–risk individuals, which are expected to be developed for various diseases in the future, will have on clinical genetics, particularly predictive testing, based on the current status of ATTRv amyloidosis.