Pushing the Boundaries of Genetic Screening in the Clinic with Whole Genome Sequencing

Thursday, April 7, 2022
By Brittany Vekstein

Jeanette McCarthy, MPH, PhD, is a genome scientist and educator working at the forefront of precision medicine implementation.

Dr. McCarthy is currently the Vice President of Precision Medicine at Fabric Genomics, a bioinformatics company that offers the leading AI-based software platformJeanette McCarthy for analysis of next-generation sequencing data for use in clinical genetic testing.

The software and AI algorithms enable labs to analyze, interpret, and report on whole genome sequences, providing genetic diagnoses for rare undiagnosed diseases, mostly in children. The precision medicine tool is enabling clinicians to detect genetic disorders in newborns currently receiving care in the newborn intensive care unit after birth along with several other applications. 

McCarthy is investigating how to use this technology, currently applied to the genetic diagnosis of kids who are symptomatic, to detect these same disorders before symptoms appear, in a screening setting. Current newborn screening programs detect a few dozen disorders, but whole genome sequencing opens the door for much broader testing.

These types of advancements in precision medicine technologies are what excite McCarthy.

“We are inching closer to screening for prevention instead of just diagnosing a disease after a kid ends up in the NICU,” said McCarthy. “My mentor is Mary-Claire King, who’s well known for her discovery of the BRCA1 (breast cancer) gene, which transformed the diagnosis and treatment of the disease. She commented once that identifying a woman with a BRCA1 mutation after she has cancer is a failure of public health. So for me, getting closer to discovering ways to identify genetic disorders before symptoms happen is exciting.”

McCarthy trained under King at University of California, Berkeley.

McCarthy remains an Adjunct Associate Professor in the Duke Department of Family Medicine but previously was full-time faculty at Duke working with the Center for Applied Genomics & Precision Medicine with a focus on basic research on the genetics of complex diseases. Her shift in focus of precision medicine came when she decided to concentrate on educating stakeholders in the field, mainly targeting clinicians. She is also the founder of Precision Medicine Advisors, who specializes in training clinicians, hospital administrators, and others, on the implementation of precision medicine in clinical practice.

“One of the most important pieces of advice I give to young physicians and scientists is learning how to effectively communicate and articulate their research,” said McCarthy. “Being able to package up and effectively describe your research, or product, or where your work fits in to the bigger picture will quickly become just as important as your scientific knowledge.”

Dr. McCarthy will speak at an upcoming Duke Precision Medicine forum on April 14, 2022, on, "A Universal AI-based Whole Genome Sequencing Solution for Genetic Screening and Diagnosis." Learn more and register to attend the virtual talk.