Jonathan Mosley

Jill Simmons, MD, and John Shelley found that adding a genetic measure of height to the evaluation of children with short stature might improve diagnosis and clinical outcomes. (photo by Erin O. Smith)

Polygenic score for height could improve diagnosis for children with short stature: study

Even after comprehensive testing, about 30% of children with short stature — height below the third percentile on a growth chart — do not have a definitive diagnosis, leading to extended surveillance, testing and anxiety.

Photo caption: Jonathan Mosley, MD, PhD, left, Scott Borinstein, MD, PhD, John Shelley, and Vivian Kawai, MD, MPH, are studying how genetic variation not related to disease affects clinical decisions. (photo by Susan Urmy)

Genetic variation associated with low white blood cell count impacts clinical decisions

People whose white blood cell levels are near the edge of the “healthy” reference range will hit a clinical decision point that has consequences such as diagnostic procedures and altered treatments.

A biomarker for early Type 2 diabetes

Genetic analyses suggest that branched chain amino acids may be a sensitive biomarker of early or subclinical Type 2 diabetes and could be used to identify risk and implement preventive measures.

Polygenic “scores” may improve cancer screening

Accounting for genetic variability in biomarkers not associated with cancer risk could avoid unnecessary diagnostic procedures, Vanderbilt researchers found.

Research by Mingjian Shi, PhD, left, Jonathan Mosley, MD, PhD, Kerry Schaffer, MD, MSCI, and colleagues found that polygenic risk score does not improve prediction of aggressive prostate cancer.

Study evaluates polygenic risk score for prostate cancer risk prediction

A Vanderbilt study found that prostate cancer polygenic risk score has limited utility for enhancing prostate cancer screening.

Genotype-specific blood counts

Vanderbilt researchers report genotype-specific reference ranges to improve interpretation of laboratory blood results in African Americans with a common gene variant that lowers white blood cell counts.