The Institute for Genomic Health

The Genomic Screening Program

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.

You may want more information about the Genetic Screening Program. Here are some of the questions people ask frequently:

What are genes?

Genes are pieces of DNA that carry information about the physical traits you have inherited from your parents. Some genes contain important information to keep our bodies healthy. Humans have about 20,000 genes.

Why are genes important to health?

Genes are one of many factors that can affect our health. Some factors, like diet and exercise, are things you can control and are important for everyone. Others are caused by changes in the genes, which are inherited and only affect certain people. These genetic changes, called variants, can mean you have a higher risk of a particular a health problem or disease. Genetic variants can increase your risk for problems like cancer or heart disease.  

What is genomic screening?

Genomic screenings check to see if you have certain genetic variants that might increase your risk of related health conditions. 

What is a biobank?

A biobank is a collection of biological samples, such as blood, from volunteer research participants. Mount Sinai has two biobanks open to all Health System participants: BioMe (launched in 2007), and the Mount Sinai Million Health Discoveries Program (launched in 2022). These biobanks link participants’ genetic information to medical information from their electronic health record. This information helps our researchers make important health research discoveries.

How many people have a medically important genetic result?

Recent studies show that about 1 in 25 people has a genetic variant that increases the risk of disease that is screened for in the Genomic Screening Program—and the majority are unaware of their risk. Genomic screening can help you find out about your risk. This can enable you to take action to detect disease early when it may be more treatable, or to prevent it altogether.

What results will I get if I participate?

Most individuals will not receive a result. Genomic screening only looks at a certain set of genes. It cannot detect every possible medically important genetic variant.

How would I find out about my results?

If a medically important genetic change is found, you will receive your genetic results from the Genomic Screening Program’s team in a no-cost telehealth or in-person visit. The team will go over your results and the associated health risks. They will make recommendations for medical care, referrals to specialists, and discuss important considerations for your family members. The genetic result will become part of your medical record so that your medical team at Mount Sinai can be aware when caring for you.

What are some pros and cons to genomic screening? 

As with most things, there are benefits and risk associated with genomic screening. Here are some of the most important considerations:

  • Possible benefits: If you learn that you have a gene variant that increases your risk of a particular condition, you may be able to make certain changes to your medical care to lower your risk. You might also benefit from careful monitoring, so if you do develop a condition, it is early enough for successful treatment. In addition, since genes are shared among families, this test may also reveal information that could be helpful for your relatives. 
  • Possible risks. If you test positive, you may feel anxious about the results. You might also have concerns about their privacy or the misuse of your genetic information. Importantly, your information is safeguarded in the same manner as your other health information in your electronic health record, and you are protected by a federal law, known as the Genetic Information Nondiscrimination Act.

It is also important to understand that there are many genes associated with disease risk that are not a part of our Genomic Screening Program. In addition, your age, lifestyle, and other environmental factors can affect whether you develop disease. This means that even if the test does not find anything concerning, you do not have zero risk for these or other conditions. 

How can I learn more about my participation in the BioMe biobank or Mount Sinai Million Health Discoveries Program?

You can visit the BioMe FAQ page for participants or the Mount Sinai Million Health Discoveries Program web site.



 

Genomic screening allows experts to analyze the massive amount of information from DNA in a targeted way, to find individuals who are at increased risk for important health problems such as heart disease or cancer. Current strategies will find important health risks in approximately 4 percent of people. Screening allows people who were otherwise unaware of their risk to learn about it in a manner that is supported by our experienced team, who can then use the latest strategies to address the specific risk that is identified to improve health outcomes.

Genetic testing may be outside your normal routine. Below we answer questions that physicians frequently ask about the Genomic Screening Program.

Do I have to answer all of my patient's questions about the interpretation of this information and the appropriate follow-up?

No, the Genomic Screening Program team, composed of clinical geneticists and genetic counselors, is available to answer questions for you and your patient.

How does my patient get their family members tested?

The Genomic Screening Program team will provide information to your patient about next steps for "cascade screening," including who should consider testing, and how to pursue it.

What if I am not up to date on this area of medicine in general and my patient's finding in particular. Where do I find information?

The Genomic Screening Program team will provide educational information to you. Importantly, most of the published information on results for these conditions is focused on diagnostic testing, however since your patient has received a screening result, there are some additional considerations that we are happy to provide information on and to review.

 

Our team includes these skilled experts.

 

Leadership:

Staff: 

          • Danielle Hoffman, Genetic Counselor
          • Kathleen Muenzen, Clinical Informatics Analyst
          • Rachelle Weisman, Associate Director of Clinical Operations for Mount Sinai Million

Genomics First Committee: