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EHR Quality Improvement Study Detects Demographic-Related Deficiencies in Cancer Family History Data

In JAMA Network Open, investigators at the University of Utah's Huntsman Cancer Institute, New York University, and elsewhere consider potential differences between individuals' family history information (FHI) and the information in their electronic health records (EHR), particularly in relation to family cancer history. The team retrospectively analyzed EHR data for more than 522,100 individuals between the ages of 25 and 60 years old who visited the University of Utah Health or NYU Langone Health systems for primary care appointments in the three years leading up to the analysis. They uncovered significant disparities in the quality and completeness of family history information in individuals' EHR — a problem that appeared to be especially pronounced in African American, Hispanic, or Latino patients, patients who spoke Spanish, and male patients. "These findings suggest that systematic differences in the availability and comprehensiveness of FHI in the EHR may introduce informative presence bias as inputs to [clinical decision support] algorithms," the authors report, explaining that "observed differences may also exacerbate disparities for medically underserved groups."

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.