Partners HealthCare Biobank – Advancing Personalized Medicine

November 19, 2015 Brigham and Women's Hospital

20140404; Friday, April 4, 2014, Boston, MA, USA; Partners HealthCare Biobank leaders Susan A. Slaugenhaupt, MD, and Elizabeth Wood Karlson, MD, talk about the promise of the Biobank project in Dr. Slaugenhaupt's lab space inside the Massachusetts General Hospital Simches Research Building Friday morning April 4, 2014. background: "The Partners HealthCare Biobank is a large research program designed to help researchers understand how people’s health is affected by their genes, lifestyle, and environment. The Biobank collects and maintain samples and information from individuals who receive their care at Brigham and Women's Hospital, Spaulding Rehabilitation Hospital, and Massachusetts General Hospital. These materials will be used in research to better understand many different diseases." ~ adapted from Partners website Partners HealthCare annual report project with Hill Holliday ( 2014 © lightchaser photography )

Partners HealthCare Biobank leaders Dr. Elizabeth W. Karlson (left) and Dr. Susan A. Slaugenhaupt.

The Partners HealthCare Biobank is a program designed to help researchers at Brigham and Women’s Hospital, Massachusetts General Hospital, and other Partners HealthCare institutions understand how people’s health is affected by their genes, lifestyle, and environment.

By understanding a patient’s genetic makeup, physicians can screen more aggressively for diseases that their patients are predisposed to and develop plans to reduce the chances of developing specific diseases. Ultimately, the goal is to define and classify subgroups of patients, based on how they respond to certain treatments, which will help physicians choose the best medications for individuals. This is known as personalized medicine.

Individuals who are patients at Brigham and Women’s Hospital, Massachusetts General Hospital, and other Partners organizations are eligible to participate in the Partners HealthCare Biobank program. After providing consent, patients are asked to complete a brief survey about lifestyle, environment, and family history of disease. Patients also are requested to provide a blood sample.

At Brigham and Women’s Hospital, physicians are using samples from the Partners HealthCare Biobank to study heart disease, diabetes, rheumatoid arthritis, allergic diseases, and lung disease. Some examples include:

  • Cerebral aneurysms – Dr.Rose Du, Director of Cerebrovascular Surgery in the Department of Neurosurgery, is using DNA samples from the Partners HealthCare Biobank to determine the genetic and epigenetic markers that are associated with brain aneurysm formation, rupture, and the clinical outcomes of aneurysm rupture. Mortality rates for brain aneurysms are very high in the first few days after an aneurysm rupture. Currently, family members are recommended to undergo an extensive screening process after two of their close relatives have developed aneurysms. If there was a blood test that could indicate an increased genetic risk for developing aneurysms, a wider set of people could be screened.
  • Cardiomyopathy – Dr. Christine Seidman, Director of the Cardiovascular Genetics Center, and her colleagues are studying the genetic causes of cardiomyopathy, a disease that affects the muscle of the heart. Dr. Seidman recruits and studies families with cardiomyopathy and enrolls them in the Partners HealthCare Biobank. By comparing patients with cardiomyopathy to those who do not have the disease, Dr. Seidman hopes to better understand the genetic causes of cardiomyopathy, improve diagnoses, and develop new treatments.
  • Rheumatoid Arthritis – Dr. Elizabeth Karlson, Director, Rheumatic Disease Epidemiology Research Program at Brigham and Women’s Hospital and Co-investigator of the Partners HealthCare Biobank, is studying how lifestyle factors, such as smoking, obesity, or reproductive factors in women, interact with genes to increase the risk of developing rheumatoid arthritis. Currently, she is recruiting family members of rheumatoid arthritis patients and assessing their risk by using an online risk calculator. She is planning to compile these scores to understand the relative importance of genes, environment, and family in the development of rheumatoid arthritis.

Learn more about the Partners HealthCare Biobank research program in this video with Dr. Karlson:

– Jamie R.

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