The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

ABSTRACT:

Background

Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms. Newborn screening and screening of at-risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would

SUBMITTER: Germain DP 

PROVIDER: S-EPMC8172211 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature