Skip to cookie consent Skip to main content

Return of Research Results

Please consider the following: 

  • It is possible that the Biobank will not analyze your sample. It is also possible that you will never be contacted with individual research findings.
  • If you are contacted with results, it may be years after you initially provided consent to the study.
  • The Biobank is primarily a research effort and is not a substitute for your regular medical care.

Patients who are consented to the Biobank provide a blood sample as part of their participation. Some of those blood samples are processed to obtain genetic information. This genetic information is used by Mass General Brigham research studies to try and understand how our genetic instructions impact our health or medical issues. It is possible that the genetic information from your sample may indicate that you are at a higher risk for a certain medical condition. If this genetic result is considered medically actionable, we will try and contact you to let you know about our findings. A result is medically actionable when there are known steps that a patient and their doctor can take to detect a medical problem early, manage a patient’s medical care and/or prevent a health condition from developing.

Because many of these genetic tests are performed in a research laboratory, some participants will be asked for a new sample to be tested in a clinical lab to confirm the genetic test research result was correct. Research results are never placed in the medical record without your consent.

If a participant is living and the genetic finding is not noted in their medical record, they will be contacted by phone, mail, or email. A genetic counselor will then speak with the patient to review the research result, describe how to get it tested in the clinical lab, and discuss implications of the result. If the patient agrees to confirm this result, a saliva kit is sent to the patient, or a blood draw is scheduled. The genetic counselor will coordinate with a specialist or your own doctor to disclose the result once the patient provides a new sample. The participant may decline to get their result at any time before the lab generates the final result.

These results may also be important to family members since we share some of our genetic make-up with our relatives. Testing for family members may be recommended as a next step if the result is confirmed.

Actionable results

The Biobank currently returns results associated with 40+ conditions, including hereditary cancer syndromes, hereditary heart disorders, and more. As medical information evolves over time, conditions may be added or removed from the list.

One example of a condition that is being returned in the Biobank is related to complications with anesthesia use. People that have a certain genetic change are less likely to be able to process certain types of anesthesia. With this information, patients and their doctors can avoid these types of anesthesia. 

Another medically actionable result is related to cholesterol. Many people have high cholesterol. However, a small percentage of the population has a genetic change that puts them at very high risk to have this health issue. When we know high cholesterol is due to a genetic change their doctors can use this information in their medical care plans. 

Lastly, there are several different types of genetic changes that can put patients at an increased risk of developing cancer. If patients and their doctors know about this increased risk, it can allow them to set up earlier and more frequent screenings or make surgical choices.

Biobank participant stories

  • Tom participated in Biobank Research and was discovered to have a genetic variation for Fabry Disease. 
  • Brian participated in Biobank research and learned he was a carrier for familial adenomatous polyposis (FAP).