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What Is Biobanking?

Contributor(s): Elizabeth Karlson, MD, MS
4 minute read
A researcher examines samples

Mass General Brigham patients have the opportunity to participate in research through the Mass General Brigham Biobank. The Biobank is a large program that helps researchers study how genes, the environment, and lifestyle can affect a person’s health. It’s a biorepository of biological material and health information, with samples from more than 135,000 patients.

Led by Elizabeth Karlson, MD, MS, principal investigator, more than 450 research studies have used data from the Mass General Brigham Biobank. The studies cover a broad spectrum of human health, including heart disease, cancer, asthma, arthritis, infection, and mental illness.  

How does the Biobank work?

Participation in the Biobank is completely voluntary. Biobank research assistants may recruit patients directly. Patients also can sign up online, using their Patient Gateway credentials.

Once a patient agrees to join, they provide three vials of blood stored for future research. This may be done as part of a routine physical. The patient consents to sharing information from their electronic health record (EHR) with Mass General Brigham researchers. This includes their medical history, family history, and demographics. They also complete a brief survey of their lifestyle and environment. Patients respond to questions about things like physical activity levels, smoking habits, occupation, and sleeping routines.

This data, in addition to the bloodwork conducted and data from the EHR, helps researchers develop a fuller picture of a person’s background. To protect patients’ privacy, their samples are de-identified and labeled with a subject ID once collected. The subject ID allows researchers to contact patients if they find actionable information, while maintaining their privacy during the study.

Mass General Brigham stores the patient’s data in the Biobank’s web-based query tool, which system researchers can access directly. Outside researchers can partner with Mass General Brigham researchers to access the Biobank as well. 

“By integrating all of this data, it improves the research,” Dr. Karlson explains. “If researchers are studying a particular disease, they can also find patients with similar  characteristics but who don’t have the disease.” These patients can serve as healthy controls for their experiments. 

Right now we’re looking for 73 genes that are considered actionable by the American College of Medical Genetics. That means when you have one of these markers, there’s something you can do to prevent a disease.

Elizabeth Karlson, MD, MS

Principal Investigator

Mass General Brigham Biobank

How are Biobank samples used in research?

Not every sample is analyzed right away, but if a patient is identified as being of interest for a study, their samples go through further testing.

“Researchers do studies on the blood samples looking at different biomarkers, which are signals in the blood that can be associated with different diseases, or they might look at genetic data,” Dr. Karlson explains. “Right now we’re looking for 73 genes that are considered actionable by the American College of Medical Genetics. That means when you have one of these markers, there’s something you can do to prevent a disease.”

Benefits of biobanking 

If researchers find genetic results that are really important to a someone’s health, the patient is notified, using the subject ID information from when they enrolled. Only 1 to 2% of patients whose samples are tested will need this further follow-up. 

First, they do more testing to ensure an accurate result. If the clinical test confirms something significant, patients receive genetic counselling and referrals to specialists. Genetic counselors provide additional information and support to patients who may be at risk for genetic disorders.

“There are preventive measures that can be taken if you have one of these genetic markers. For example, if researchers find a marker for breast cancer, we would refer the patient to a specialist who would suggest how to screen this person for breast cancer,” says Dr. Karlson.

Biobank studies and patient care

As Biobank researchers learn more about the fundamental characteristics of diseases, their research could lead to advances in patient care. One recent study looked at the risk of coronary artery disease using a polygenic risk score, which combines multiple genes to measure a patient’s risk of getting a disease. Researchers found that a patient could have a very high risk score and be at risk of having a heart attack, but not have any traditional risk factors like high cholesterol.

“These genomics gives their doctor a signal that they’re at risk and that they need to have these screening tests,” adds Dr. Karlson. 


Principal Investigator, Mass General Brigham Biobank