Friday, November 2, 2012

Exploring how genetic discoveries affect care


FINDING SOLUTIONS: Vamsee Pillalamarri, left, and Matthew Stone, center, of the Center for Human Genetic Research, with their poster that received the Translational Research Award given by the Department of Molecular Biology.


In his keynote address at the 10th annual Clinical Research Day on Oct. 11, James Gusella, PhD, director of the MGH Center for Human Genetic Research (CHGR), noted, “It has become clear that genetic variation matters in all disease.” In conditions like Huntington’s disease, caused by mutations in a single gene, exactly how and when disease symptoms appear can be affected by other genes, Gusella said. Understanding exactly how those variants interact may suggest ways to interfere with the disease process, helping clinicians predict outcomes for individual patients and devise better treatment strategies.

This year’s poster session featured presentations from 239 research teams followed by a panel discussion about integrating genetics into clinical medicine. Mark Daly, PhD, chief of the Analytic and Translational Genetics Unit, said that while it has become much easier to obtain full genomic information about patients, there are still difficulties determining what has an impact on patient care, how that information should be used and stored, and what should be shared with patients. Both Gusella and Jordan Smoller, MD, ScD, director of the CHGR Psychiatric and Neurodevelopmental Genetics Unit, stressed the importance of making patients partners in the research enterprise.

Alexa Kimball, MD, MPH, senior vice president of the MGPO and vice chair of the Department of Dermatology, noted the importance of engaging more clinicians in research, and she and Henry Chueh, MD, division chief of the Laboratory of Computer Science, cited the value of the electronic medical record as a research tool.

“Today’s powerful genetics and genomics tools help us discover defects in genes and proteins previously unsuspected as causes of disease, and the information gathered in treating our patients can validate the work of basic researchers and guide them to important new areas of discovery,” said William Crowley, MD, director of the Clinical Research Program. “Finding solutions to the challenges of translating and integrating modern genetics into routine patient care will be what distinguishes the leading academic medical centers of the future.” 

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