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Medical Genetics

The promise of personalized medicine utilizing novel technologies, such as Next Generation Sequencing, has reached an inflection point in the delivery of clinical care. This growing field has become a national priority with the White House-led Precision Medicine Initiative, providing funding for a new era of “omic”-driven research.

At NorthShore, experts in the field of genetics are aiming to identify and measure the influences of genes on health to more effectively manage these risks in patients. The clinical research interests include pharmacogenomics, cardiovascular and cancer genetics as well integration and utilization of genomic information in a health system. A number of novel investigator-initiated studies are ongoing.

In the area of pharmacogenomics, for example, research efforts include an exploratory study of primary care perspectives on direct access to pharmacogenetic testing. Primary care physicians are at the frontlines of reviewing and explaining drug-gene tests results to patients. Yet very little is known about their attitudes and readiness for this emerging field and its influence on clinical practice.

Inherited cancer genes remain an important focus of study to better define and develop risk profiles. Collaborating with large national and international consortiums, including ENIGMA, NorthShore’s researchers are looking at the risk factors of other known or suspected breast cancer genes beyond BRCA1 and BRCA2. These include PALB2, CHEK2 and ATM.