The Biobank’s Return of Research Results Program
In celebration of its 15-year anniversary, the Mass General Brigham Biobank — a bank of blood samples and data available to researchers studying the causes of common diseases — is running a series of articles. Topics will include aspects of its operations, highlighting innovative research using Biobank samples, data, and more.
The Mass General Brigham Biobank was established in 2009 with the goal to dramatically speed up the pace of research. The Biobank provides researchers with samples and data, including genomic data, that are linked to the electronic health record. More than 150,000 patients have provided their consent to participate in the Biobank. It continues to grow to serve the research needs of our community.
To date, the Biobank has distributed 250,000 samples and genomic data for 65,000 participants to nearly 600 unique studies. Mass General Brigham researchers have published more than 400 peer-reviewed articles on studies that use Biobank samples and/or genomic data. Their research covers a wide array of disease areas, including cancer, diabetes, auto-immune diseases, psychiatric disorders, and more.
Return of research results program at the Mass General Brigham Biobank
Patients who join the Mass General Brigham Biobank provide their consent to receive research information when it is medically important — the Return of Results program. This currently includes genetic results that the American College of Medical Genetics and Genomics (ACMG) has qualified as medically actionable. That means there is a next step the patient and/or their health care team can take, such as starting a treatment, or more closely following the patient's health for a medical condition, when they learn that they have a genetic risk result. The genetic results found by the Biobank are research results and need to be confirmed in a clinical laboratory before any changes to a patient's health care are recommended. The Biobank provides this repeat testing for interested patients.
The Biobank’s Return of Results (RoR) process centers patients. When an actionable genetic result is identified, a Biobank genetic counselor reaches out to the participant to share that something potentially medically actionable has been found. If the participant is interested in learning more, the genetic counselor shares basic information about the medical condition and what it would mean for them if the research test result were clinically confirmed. Having genetic testing is a personal choice, and the genetic counselor and participant talk through how this result could shape their future health care, impact family members and review other important considerations such as data privacy and laws that protect against insurance discrimination. If the patient wishes to continue, the result is clinically confirmed by having the patient send in a new sample to repeat the test. Then the Biobank team works to get the participant scheduled with a doctor and/or genetic counselor to discuss the result and its impact on their and their family’s health care.
Sharing genetic changes with participants
The Biobank’s genetic counselors return many different types of results. For example, the Biobank returns genetic changes in the BRCA 1/2 genes, which are associated with an increased risk of developing breast, ovarian, prostate, and other cancers. About 50% of patients assigned female at birth who have a BRCA 1/2 result will develop breast cancer at some point in their lives. Patients known to have these types of genetic changes can have special screening to detect cancer early or have surgery to lower their risk. The Biobank genetic counselors also return results in the GLA gene which can cause Fabry Disease, a rare disease that affects the way the body processes a type of fat-like substance. If a patient is not treated, Fabry Disease can affect the liver, heart, and kidneys. The wide variety of symptoms can lead to many patients going undiagnosed. Once aware of a genetic result for Fabry Disease, a patient could begin medication to prevent symptoms from progressing.
The Biobank finds that 76% of participants with a medically actionable genetic result didn’t know they had it before the Biobank told them. The return of results process can provide them with information that can be life changing. Once aware of a genetic result, patients and their providers can take action. Returning these types of results is sometimes called population screening or referred to as personalized medicine or precision medicine. Personalized medicine seeks to tailor medical treatment based on someone’s individual characteristics, including their genetic information.
The future of sharing other results with patients
In the future, the Biobank may also return results such as polygenic risk scores (many small genetic changes that can increase the risk of developing a health condition), pharmacogenetics (when a genetic change impacts how responsive an individual is to certain medications), and biomarkers that indicate a high risk of developing a disease. In this way, the Biobank is part of the larger research ecosystem at Mass General Brigham that intersects with patient care.