Shannon Terek

TL;DR: The eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites and developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results as mentioned in this paper .

TL;DR: It is hypothesized that the availability of a rapid turnaround PGx test with specific dosing recommendations will increasePGx test utilization to guide pharmacotherapy decisions and improve patient safety outcomes and may help other institutions interested in implementing PGx testing in oncology care.

TL;DR: In this paper , the authors conducted semi-structured interviews with 40 African American and Hispanic parents at The Children’s Hospital of Philadelphia and Boston Children's Hospital to evaluate their comprehension of absolute versus relative risk framing, likelihood of following risk-reduction recommendations, perceived value of the information, psychosocial impact, education/support needed, and suggestions to improve the PRS-based report to make it more accessible.

TL;DR: The identification of genetic modifiers of motor neuron disease, especially those modifiers that are shared by SOD1 and dynactin-1 transgenic mice, may result in the identification of novel targets for therapies that can alter the course of this devastating illness.