FOR IMMEDIATE RELEASE

BOSTON, MA -  Partners HealthCare today announced that it has started offering doctors and patients the option of whole genome sequencing, analysis and interpretation.  The test, available to patients across the nation, will offer physicians and patients the ability to better diagnose and treat disease. Partners is the one of the first health care systems in the nation to provide this option to patients everywhere.

“The goal is to bring the best care to patients by making the right diagnosis in tough cases and to guide the physician by identifying which treatment will likely work most effectively,” said Anne Klibanski, MD, Chief Academic Officer at Partners HealthCare. “We hope to advance this field of medicine and ensure a better, more cost effective approach to health care -- identifying illness faster and understanding what therapies will work best for particular patients.”

Whole genome sequencing, is a laboratory process that determines the nearly complete DNA sequence of an individual’s genome.  The genome contains all of a person’s genetic and hereditary information. The test involves submitting a blood sample to Partners Laboratory for Molecular Medicine which will manage the sequencing and data analysis. Once the patient’s DNA has been sequenced, the information is analyzed and interpreted by laboratory geneticists and clinicians at both Mass General Hospital (MGH) and Brigham and Women’s Hospital (BWH). A Partners-developed software application known as GeneInsight helps to interpret any genetic variants or abnormalities in the patient’s genome and reports them to the patient’s physician. The process is a joint effort of the Partners Center for Personalized Genetic Medicine and the Pathology Departments at MGH and BWH, and other collaborators.

The report sent back to the physician will provide information on variants related to the patient’s disease that can inform the diagnosis, treatment, and interventions best suited for that particular patient. Individuals will also receive a second report that looks at incidental findings across a broader spectrum of genetic conditions, including the 24 diseases for which screening was recently recommended by the American College of Medical Genetics and Genomics. With these reports, physicians are able to personalize and tailor a treatment plan that will work best for individual patients and conditions. By getting the right diagnosis and identifying best treatment options, patients can get the right treatment faster – ultimately saving time and money.

“Thorough a collaboration with MedSeq, we have optimized our approach to returning comprehensive incidental findings to patients to make the most effective use of their genome sequences including risk and carrier status for other diseases and pharmacogenomic implications,” said Heidi Rehm, PhD, Chief Laboratory Director at the Partners Laboratory for Molecular Medicine.

A patient typically only needs to have their genome sequenced once in a lifetime. As scientific knowledge in this field advances and new things are understood about different variants or findings, the same sequence can be used to interpret multiple different indications and to reinterpret previous findings.

“This future of patient care is literally unfolding in front of our eyes,” said Matthew Lebo, PhD, geneticist at the Partners Laboratory for Molecular Medicine.  “Decades of hard work and research conducted by some of the most brilliant scientific minds at Mass General and Brigham and Women’s have made this type of care possible for patients everywhere.” 

Partners began offering this service earlier this summer. Over 100 patients are expected to have their genome sequenced in the first year of the program. More information on this service can be found on the laboratory’s website.


Partners HealthCare is an integrated health system founded by Brigham and Women’s Hospital and Massachusetts General Hospital. In addition to its two academic medical centers, the Partners system includes community and specialty hospitals, a managed care organization, community health centers, a physician network, home health and long-term care services, and other health-related entities.  Partners is one of the nation’s leading biomedical research organizations and a principal teaching affiliate of Harvard Medical School.  Partners HealthCare is a non-profit organization.


Find coverage of this announcement in The Boston Globe.