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In 2019, researchers at Yale New Haven Health and Yale School of Medicine launched a DNA sequencing project to discover genetic variations that may be related to certain health conditions.
But, what can this research do for you and your health? For those participating in the study, it’s an opportunity to contribute to medical research that may improve healthcare for future generations. However, by supplying people with personal health information stored in their blood, the aptly named Generations Project is already informing medical decisions. And that is exactly what happened to Joanne Barrett of Woodbridge, Connecticut.
“A research assistant emailed my husband about getting his DNA sequenced. My husband asked if I could participate as well. At the time, I told my him I would do it, but I didn’t think about it much after that initial email.” It wasn’t until her routine mammogram appointment weeks later that Joanne, who works in special education, recalled the DNA project and had her blood drawn the same day.
Several months later, Joanne got a phone call from Michael F Murray, MD, clinical director of the Yale Center for Genomic Health, founder of the Generations Project, and professor of Genetics and Pathology at Yale School of Medicine. Dr. Murray discussed Ms. Barrett’s DNA sequencing results with her, which were analyzed in the Yale DNA Diagnostic lab—the same lab that generates clinical results when a Yale New Haven Health physician orders a genetic test for a patient.
He informed her that she has a genetic variation in BRCA2 that causes the typically tumor-suppressing gene not to function properly. A person who has this type of variant has a 60 percent risk of developing breast cancer compared with 12.5 percent for a woman of average risk. This change in BRCA2 also increases the risk of ovarian, prostate, and other types of cancer.
Ms. Barrett was shocked to learn she has a BRCA2 variant since she has no family history and wouldn’t qualify to be genetically tested for this cancer risk-factor had she asked her physician.
Armed with this information, Ms. Barrett connected with her Yale Medicine breast surgical oncologist, Elizabeth Berger, MD MS, assistant professor of Surgery at Yale School of Medicine, who cares for patients at Yale New Haven Hospital. Dr. Berger informed Ms. Barrett that her mammogram showed calcifications and discussed her risk of bilateral breast cancers given her recent BRCA2 finding. To get a more complete picture of Ms. Barrett’s health, Dr. Berger collaborated with Elena Ratner, MD, gynecologist oncologist, Yale New Haven Hospital and professor at Yale School of Medicine.
“When I learned about the risks of the change in this gene, combined with what was found on the mammogram, it motivated me to be proactive,” said Ms. Barrett.
With guidance from her clinical team, Joanne was scheduled for a bilateral mastectomy with reconstruction as well as other gynecologic preventative surgeries shortly after the 58-year-old welcomed her sixth grandchild. The gynecologic surgery effectively minimized Joanne’s risk of cancer due to the BRCA2 variant.
As Ms. Barrett was recovering from surgery, Dr. Ratner asked if she had an angel looking out for her: During the gynecologic surgery, they found that Joanne had a rare pre-cancer of the fallopian tube that could have quickly advanced to stage 3 cancer.
“Because of my experience, I have referred family members to participate in the project. It’s silly not to get screened and learn more about your health,” said Ms. Barrett.
Ms. Barrett credits her family and friends for helping her manage the surgeries. “After the physical pain subsides, there’s an emotional component to deal with, but I am grateful to be recovering from surgery versus battling cancer and thankful for the email, months prior, that saved my life.”
How it works
Dr. Murray, who is passionate about expanding genetics to benefit all areas of medicine, says his team chose to screen ten specific genes out of the 20 thousand people have because of their ability to indicate risk for relatively common and actionable conditions. Anyone who has a positive result can choose to do something with that information to address their identified health risk.
On an individual level, all results are managed within the clinical system and an electronic health record, so the data has the same oversight and protection as any other medical record. On the research side, the data is de-identified to ensure privacy.
Participants in the Generations Project qualify for:
- A free screening that may not otherwise be covered by insurance
- Personal consultation, should any results be positive
- Screenings for any potentially impacted family members
- A pharmacogenetics profile, meaning if certain DNA markers are present to indicate how a participant’s body may process certain medications. This information will be incorporated into a participant’s electronic health record to potentially enhance their care
“We’re excited to invite more people to join this project which can give participants the information they likely wouldn’t be able to access otherwise,” said Dr. Murray. “We believe that when someone participates, the generated data can be expected to increase in value over time, and potentially bring benefits for their children and grandchildren someday.”
One to three percent of participants in the project get a positive result and the healthcare management varies by gene and personal preference. For example, for BRCA-related risks, some people might choose extra mammograms or surgery; for other genes associated with colon cancer, they may opt for more frequent colonoscopies; and for heart risks, there are medicines and/or dietary modifications to consider.
To learn more about the Generations Project and how to participate, don’t hesitate to contact 203-605-6884 or firstname.lastname@example.org.