Genetics & Genomics Archive

June 22, 2023

Mosaicism and genetic disease

Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

May 9, 2023

Study finds genetic screening of adults would be cost-effective

A Vanderbilt analysis of population genetic testing concludes with a recommendation to U.S. health policymakers to adopt routine testing of adults ages 40 and under for three genetic conditions posing high risk of life-threatening illness.

April 20, 2023

Genetics and chronic pain

Polygenic risk scores — scores that reflect the influence of common genetic variants — could be used to predict the likelihood of developing chronic overlapping pain conditions and guide biomarker and targeted prevention efforts.

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.
March 16, 2023

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.

February 16, 2023

Breast cancer genetics: new insights

Largest genetic study of breast cancer to date identifies 222 genetic risk loci, 137 genes and multiple signaling pathways associated with risk, providing important new insights.

January 5, 2023

New approach outperforms existing cancer susceptibility models

A new approach for conducting gene-based analyses for cancer susceptibility created at Vanderbilt outperforms existing models.