Medical genomics articles from across Nature Portfolio

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal genes, ARID3A and NR6A1, along with 38 candidate genes, providing evidence for shared genetics with other developmental disorders.

Connolly et al. describe the International Health Cohorts Consortium (IHCC), a global initiative that is closing gaps in genomic databases by representation of different ancestral groups, promoting academic and industry collaborations, and supporting cutting-edge research in global health. A summary of the collective resources of 69 member cohorts, representing over 34 million people is discussed.

The importance of generating and sharing human genomic data for human health is widely recognised. Whilst several international high-level frameworks provide guidance, local governance challenges and concerns of previously under-represented populations mean that the full potential of genomic data sharing remains unrealised. This commentary introduces the LINEAGE study, an Australian research project that is building an empirically-informed and normatively robust governance framework for the generation and sharing of genomic data.

Genome-wide sequencing of the DNA that can be obtained from a newborn screening blood spot could provide predictions of thousands of genetic diseases that are not currently included in universal newborn screening. Most of the serious ethical, legal, privacy, and social concerns raised by genome sequencing of all infants can be avoided by implementing genomic newborn screening in accordance with widely-accepted public health criteria.