Moving Genomics into Everyday Healthcare

We are learning more and more about how changes in our DNA affect health and disease every day—however, use of DNA screening as part of clinical care is still lagging behind. A simple blood test can now help to identify changes in our genes that might increase the chances of developing certain conditions, such as cancer, heart disease, or even brain disorders, like autism. DNA screening tests can catch potential health issues before symptoms occur or give a genetic explanation for a disease that already exists. Learning this information is not only important for an individual’s health, but also for their family’s health since these gene changes can be inherited. In this presentation, we’ll explore how we’re implementing DNA screening at Geisinger as part of everyday healthcare to prevent disease or detect it earlier, and what the impact is on patients and their families.

Originally published on January 3, 2024

Lecture Presenter

Christa Lese Martin, PhD, FACMG Chief Scientific Officer, Vice Dean for Research, and Professor Geisinger Commonwealth School of Medicine

Dr. Christa Lese Martin, PhD, FACMG, is currently the chief scientific officer at Geisinger and vice dean for research at the Geisinger Commonwealth School of Medicine. She is also a Professor in Geisinger’s Research Institute and was the founding director of their Autism & Developmental Medicine Institute. She is board certified by the American Board of Medical Genetics and Genomics (ABMGG) as a clinical cytogenetics laboratory director. Her research focuses on using a “genomics-first” approach to characterize neurodevelopmental/psychiatric disorders with an ultimate goal of developing precision health-driven treatments to improve patient outcomes. She is also part of the leadership team for Geisinger’s MyCode Community Health Initiative—a groundbreaking precision health program bringing genomic medicine into everyday health care. Dr. Martin received her bachelor of science degree from Penn State University and completed her PhD in human genetics at the University of Pittsburgh. She did her research and clinical postdoctoral training at the University of Chicago in the Department of Human Genetics where she remained on faculty. Before joining Geisinger, Dr. Martin was an associate professor in the Department of Human Genetics at Emory University and operations director of Emory Genetics Laboratory.

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Objectives

After this presentation, participants will be able to:

• Describe the difference between population DNA screening and other types of studies that use DNA, such as clinically-indicated/diagnostic testing and recreational DNA screening
• Differentiate the benefit of using population DNA screening versus relying on patient or family history of disease to direct genetic testing
• Discuss the difference between CDC Tier One Conditions and other genetic conditions evaluated as part of population DNA screening

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories