Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Monica H Wojcik et al. Am J Hum Genet 2023 8 (8) 1229-1248
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending after ES. The current diagnostic rate reflects multiple factors, including technical limitations, incomplete understanding of variant pathogenicity, missing genotype-phenotype associations, complex gene-environment interactions, and reporting differences between clinical labs.
Birth Defects Research and Tracking
CDC, March 2023
Accurately tracking birth defects and analyzing the collected data is a first step in preventing birth defects. CDC uses tracking and research to identify causes of birth defects, find opportunities to prevent them, and improve the health of those living with birth defects. Understanding the potential causes of birth defects can lead to recommendations, policies, and services to help prevent them.
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
M Pennings et al, EJHG, February 13, 2023
In this study, CNVs were extracted from clinical exome sequencing reports of 4800 probands primarily with a movement disorder, myopathy or neuropathy. In 88 (~2%) probands, phenotype-matching CNVs were detected, representing ~7% of genetically confirmed cases. CNVs varied from involvement of over 100 genes to single exons and explained X-linked, autosomal dominant, or - recessive disorders, the latter due to either a homozygous CNV or a compound heterozygous CNV with a sequence variant on the other allele.
National Birth Defects Awareness Month: Healthy Communities, Healthy Babies
NBDPN, January 2023
As part of our new awareness efforts, NBDPN would like to recognize that systemic barriers can create gaps in access to the recommended care in our prevention tips. So, we aim to reinforce these prevention tips by sparking more actions and conversations in your local communities to identify, or build, more resources for successful pregnancies! Importantly, we would like to clarify that this theme is focused on the preparation stages of your journey into parenthood. Many of these conditions extend across the lifespan.