[ Back to EurekAlert! ] Public release date: 8-Dec-2011
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Contact: Tom Langford
tlangford@partners.org
617-534-1605
Brigham and Women's Hospital

Brigham and Women's Hospital awarded $9.6 million to study whole genome sequencing

Cutting-edge clinical study, using the entire human genome is planned for the Boston area

Boston, MA –Brigham and Women's Hospital (BWH) has been awarded $9.6 million over four years from the National Human Genome Research Institute (NHGRI) to fund the Medical Sequencing (MedSeq) Research Project. The MedSeq Project is the first clinical trial ever funded by NIH to empirically study the use of whole genome sequencing, the mapping of an individuals' entire DNA, in the practice of medicine.

The proposed project, led by a multi-disciplinary team of more than 40 scientists, 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 where they will receive either standard care with whole genome sequencing or standard care without whole genome sequencing. Researchers will study two types of volunteers – healthy middle-aged patients followed by primary care physicians and patients with newly diagnosed hereditary cardiomyopathy. The MedSeq Project will begin enrollment in 2012.

"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 Division of Genetics at BWH and overall director of the study. "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 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 MedSeq Project is the first clinical trial funded by NIH to support translating complicated genomic sequence data into understandable laboratory reports, and to evaluate how these reports will be used in a clinical setting.

"One of the most controversial issues the study team will face is whether to look for and whether to report 'incidental' genetic findings or mutations that suggest previously unsuspected genetic predisposition to cancer, heart disease or other conditions that are found in otherwise healthy individuals," Green said. "Reporting too many incidental results could generate unnecessary and costly medical tests, while reporting too few could deprive patients and doctors of valuable risk information."

In addition to Green, the research will be led by co-directors Mike Murray, MD, Christine Seidman, MD and Heidi Rehm, PhD from Brigham and Women's Hospital. As well as Amy McGuire, JD, PhD from Baylor College of Medicine and Zak Kohane, MD, PhD, from Children's Hospital Boston.

Speaking to the significance of the study, Kohane said, "medical practice and medical education by and large does not currently address the procedures and challenges of disclosing large-scale genomic data to patients. This grant will allow us to determine what part of the process needs refinement, where additional education of either the patient of physician will make for a more productive encounter, and how best to summarize this vast body of data in one all-to-brief clinical encounter."

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Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare, an integrated health care delivery network. BWH is the home of the Carl J. and Ruth Shapiro Cardiovascular Center, the most advanced center of its kind. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives and its dedication to educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), www.brighamandwomens.org/research, BWH is an international leader in basic, clinical and translational research on human diseases, involving more than 900 physician-investigators and renowned biomedical scientists and faculty supported by more than $537 M in funding. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative. For more information about BWH, please visit www.brighamandwomens.org



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