2022: a pivotal year for diagnosis and treatment of rare genetic diseases.

Published in: Cold Spring Harbor molecular case studies (2022)

The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation.

Keyphrases

genome wide
healthcare
copy number
primary care
quality improvement
gene expression
young adults