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-too-brief clinical encounter.”
This program aired on December 6, 2011. The audio for this program is not available.