The DNA donated by volunteers to the BioMe and Mount Sinai Million biobanks supports leading-edge medical research. The Mount Sinai Genomic Screening Program allows these volunteers to elect to have their DNA screened for personal health risks, and these risks are uncovered in approximately 4 percent of cases. Usually, the personal risk information uncovered through the program offers the first opportunity for the participant and their health care providers to understand this risk and to take action to address it.
Mount Sinai was among the first health systems in the nation to create an institutional biobank—BioMe. Building on this foundation, Mount Sinai is expanding its effort to engage one million patient participants through the Mount Sinai Million Health Discoveries Program. Linking genomic data to health information on a large scale through these research programs is advancing scientific discovery. Over more than a decade, tens of thousands of generous biobank participants have donated samples and health information to drive this research forward. Through the Genomic Screening Program, participants in these biobanks can choose to be informed about certain medically important risks encoded in their DNA. The program then supports those with identified risk to both understand those risks and to take steps to improve their chances for healthier outcomes.
Genes and Conditions We Screen
The Genomic Screening Program screens for medically important genetic changes. Participants have been informed about disease-associated changes in these genes:
- BRCA1, BRCA2, PALB2 (associated with hereditary breast-ovarian cancer syndrome)
- MLH1, MSH2, MSH6, PMS2 (associated with Lynch syndrome)
- LDLR, APOB, PCSK9 (associated with familial hypercholesterolemia)
- TTR (associated with hereditary transthyretin amyloidosis)
This list will grow over time through the decisions of the Genome First Committee.
For Patients
We are grateful that you donated your genetic material to assist in medical research. There is an additional opportunity to consider: Your genetic samples can be screened for changes or variants that could be present though you are unaware of them. If you choose, we will screen your genome for medically important genetic changes—such as risks for cancer and heart disease. When found, these results mean that you have a significantly higher chance of developing a disease than most people. If we find that your DNA has a medically important genetic variant, our genomic health team will support you by: explaining the health risk, connecting you with Mount Sinai specialists for follow-up care, and supporting you in getting your family members who have a 50 percent chance of sharing the same risk the care they need.
Having a positive screen for genetic risk means there is a higher risk than usual, and does not mean you have the disease. Learning about a high genetic risk gives individuals and their providers the chance to take steps to detect disease early, or to lower the risk. On the other hand, this screening test cannot identify all disease risk. Everyone should undergo recommended care for cancer screening and prevention (such as mammograms, colonoscopy, and cholesterol screening). If you have particular concerns about your health risks, you should speak with your primary care provider. You and your provider may decide to visit the Mount Sinai Genomic Health Clinic regarding questions about genetic risks and additional genetic testing.
If you are a biobank participant who has opted to get results but has not received any, it means that to date you have not screened positive for a change in any of the genes that we currently screen. This does not rule out all risk for the diseases. You should speak with your doctor about your health history and whether diagnostic genetic testing, rather than genomic screening, is right for you.