Partners HealthCare Biobank hits major milestone

Partners HealthCare recently announced that it has surpassed 100,000 participants in the Partners Biobank, making it one of the largest biobanks in the country and helping to accelerate clinical research that will allow physicians to better understand, treat and prevent diseases in patients now and in the future.

“This is a significant milestone for Partners and the research community,” said Scott T. Weiss, MD, who is the Principal Investigator at the Partners Biobank and Scientific Director of Partners HealthCare Personalized Medicine. “Greater participation in the Biobank enables us to increase the scale and scope of our research and provides our researchers with access to data and information that would otherwise take them years to source. We are already seeing tremendous results from the Biobank, both for individual patients where a health concern was identified to large studies that are helping us to identify diseases like Alzheimer’s and cancer in patients who have yet to develop any symptoms.”

Researchers and clinicians at Brigham and Women’s Hospital, Massachusetts General Hospital and other Partners institutions are using the Biobank to study how genes, lifestyle and other factors affect people’s health and contribute to disease. Participants in the Biobank provide a small blood sample which is linked to their electronic health record (EHR) data as well as a self-reported health survey and their family history information. The blood specimens are then genotyped and stored in a research sample and data repository which is available to all Partners researchers.

Through the genotyping of samples, Biobank researchers have also been able to detect potential health issues for participants before any clinical symptoms were present. In some cases, participants knew of prior family history that they were able to confirm through the genotyping process but in other cases, health concerns for which they had no prior knowledge or symptoms were detected.

Kristine Trudeau from West Springfield, MA was recovering from a double lung transplant when she enrolled in the Biobank. As a nurse, she felt strongly about the importance of participating in something that could help advance medicine and potentially save lives. She didn’t know at the time that it would be her life that would be saved.

Several months after enrolling in the Biobank, Trudeau was informed that something was discovered in her sample and she was asked to provide an additional sample to confirm the findings. She tested positive for the BRCA-2 gene, meaning that she was at higher risk for developing breast or ovarian cancer. The Biobank encouraged her to meet with a genetic oncologist who recommended that she immediately begin more aggressive monitoring for breast cancer and that she have her ovaries and fallopian tubes removed. Just three months later, breast cancer was detected. Fortunately, the cancer was found early enough with no lymph node involvement. Trudeau underwent a double mastectomy and was given an oral hormone suppressant for treatment. She is now in remission and credits her participation in the Biobank with helping her to take control of her health as well as her family’s.

“I would have never known that I was at risk if I hadn’t donated to the Biobank,” said Trudeau. “I'd had a mammogram less than a year before I enrolled in the Biobank and I had no issues but this information prompted the breast surveillance and because I knew I was BRCA-2 positive, once the cancer was detected, I opted to have the double mastectomy to help reduce further risks. If I hadn’t known this, I may not have made that decision. Having this information not only helped me but because this is genetic, I was also able to encourage my sister to get tested and, at some point, my children will be tested so that they can take precautions as well.”

To date, the Biobank has provided samples or data to more than 200 research studies, including current studies focused on:

• the genetic causes of cardiomyopathy
• genetic impact medications like antidepressants
• the development of a clinical algorithm to identify risk for Alzheimer’s disease in early midlife
• the role of genes in rheumatoid arthritis
• evidence of circulating tissue DNA is blood as a predictor of cancer
• the role of genetics and epigenetic changes to DNA in cerebral aneurysms
• polygenic risk score associations between sleep duration and diseases

“The Biobank has truly revolutionized the way that we do research at Partners and the more participants we have, the more powerful the resource is,” said Elizabeth Karlson, MD, Division of Rheumatology, Immunology and Allergy at Brigham and Women’s Hospital, who was one of the original leaders of the Biobank and who is currently developing machine learning algorithms to define disease phenotypes for genomics research in the Biobank. “In addition to the sample size, a key differentiator for our Biobank is the electronic portal that we developed to help researchers search for disease phenotypes and request the data samples that they need for their studies. The Biobank combines genotype data, electronic health record data with lifestyle information from a health survey so our researchers can easily search for and request the specifications that they are interested in looking at without the need to recruit the hundreds or thousands of patients often required to carry out a study.”

Raul Mostoslavsky, MD, PhD, a researcher at the Mass General Cancer Center, and his lab are investigating the connection between cell death and disease progression through the study of DNA. He said that his study, which is being done in partnership with Yuval Dor, PhD, and Benjamin Glaser, MD, of the Hadassah Medical Center at the Hebrew University of Jerusalem, has benefited from not only the sample size available to him through the Biobank but also the kind of follow-up that is being done with participants.

“The Partners Biobank is integral to our research because it provides the possibility for both retrospective and prospective research,” said Dr. Mostoslavsky. “We are able to utilize the uniqueness of the Biobank to track patients who develop cancer after they provided their Biobank sample, to determine whether tissue-specific DNA predictors were present before disease presented. In my opinion, there is no other system like it in the world, and it would be incredibly difficult for us to do this research without it.”

To read a recent Boston Globe article on the difference the Biobank is making, click here.