Unequal global implementation of genomic newborn screening

Article Medicine, General & Internal

Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry

Elizabeth Jordan et al.

Summary: This study compares the rare variant genetic architecture of dilated cardiomyopathy (DCM) among patients with DCM who are of African ancestry compared with European ancestry. The study found that African patients with DCM were less likely to have clinically actionable variants in DCM genes than those of European ancestry due to differences in genetic architecture and a lack of representation of African ancestry in clinical data sets.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2023)

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Review Genetics & Heredity

Genomic newborn screening for rare diseases

Zornitza Stark et al.

Summary: Rare diseases are a significant cause of infant mortality and lifelong disability. Genomic sequencing has revolutionized diagnosis and offers the potential to greatly expand the early detection of treatable rare diseases through newborn screening programs. This review discusses the challenges and opportunities associated with incorporating genomic sequencing into newborn screening, including the need for evidence of benefit and addressing ethical and psychosocial concerns. The authors summarize the current evidence and identify key research priorities.

NATURE REVIEWS GENETICS (2023)

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Review Genetics & Heredity

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

Rebecca Kingdom et al.

Summary: The same genetic variant can cause a range of phenotypes, displaying incomplete penetrance or variable expressivity, influenced by various factors. Investigating the penetrance and expressivity of genetic variants is important for clinical classification and genetic counseling. Population cohort data can help redefine the understanding of these variants. Researching the causes of incomplete penetrance and variable expressivity in rare diseases is critical for our understanding.

FRONTIERS IN GENETICS (2022)

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Article Genetics & Heredity