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BWH researchers were awarded $9.6 million in funding for the first clinical trial ever to empirically study the use of whole genome sequencing—the mapping of an individual’s entire DNA—in the practice of medicine.
Funded by the National Human Genome Research Institute, the Medical Sequencing, or MedSeqTM Research Project, will be led by a multidisciplinary team of more than 40 scientists. “This study will build on the expertise and accomplishments of this remarkable scientific team to create and test novel methods for interpreting whole genome sequencing information and actually using that information in clinical medicine,” said Robert C. Green, MD, MPH, a physician-scientist in the BWH Division of Genetics. “This research will accelerate the use of genomics in clinical care, taking another step toward fulfilling the promise that genome sciences will usher in an era of personalized genetic medicine for the betterment of human health.”
The proposed project, which begins enrollment in 2012, will first design an informatics pipeline to interpret several million genetic variants from each patient and generate clinical reports that will be meaningful to practicing physicians. After that, 200 patients and their physicians will be enrolled in a clinical trial to receive either standard care with whole genome sequencing or standard care without whole genome sequencing. Researchers will study healthy middle-aged patients followed by primary care physicians and patients with newly diagnosed hereditary cardiomyopathy.
The first human genome was decoded through the Human Genome Project in 2003; however the use of individual sequencing in medical care is only beginning now, largely due to the falling costs of sequencing and bioinformatics advances. The MedSeqTM Project is the first clinical trial funded by National Institutes of Health to support translating complicated genomic sequence data into understandable laboratory reports, and to evaluate how these reports will be used in a clinical setting.
Green will lead the research along with BWH’s Michael Murray, MD, Christine Seidman, MD, and Heidi Rehm, PhD; as well as Amy McGuire, JD, PhD, of Baylor College of Medicine, and Zak Kohane, MD, PhD, of Children’s Hospital Boston.