Information for Providers

Approximately 1 out of every 75 Americans is unaware that they are at increased risk for cancer or heart disease due to their genetic makeup. Mount Sinai is working to identify, screen, and treat these patients. As part of this effort, we launched the Genomic eSCREEN Program (GSP), which works within Mount Sinai’s EPIC electronic health record. It scans all Mount Sinai’s electronic health records to identify people at increased risk due to personal and family history. If appropriate, it  recommend referrals to the Genomic Medicine Team at the Genomic Health Clinic.

Providers at the Genomic Health Clinic see patients both in person and virtually. Our doctors can determine which patients need additional testing. The Genomic Medicine Team can talk with patients about the need for this testing, discuss the results, and outline any future steps necessary.

Possible Tests

Depending on the EHR clinical criteria met, the Genomic Medicine Team evaluates patients for one of the three following types of genetic tests:

• BRCA1, BRCA2, and related cancer risk tests: Recommended for patients whose criteria assessment indicates elevated risk for pancreatic cancer, prostate cancer, breast cancer, or ovarian cancer. (Reference: https://www.ncbi.nlm.nih.gov/books/NBK1247/pdf/Bookshelf_NBK1247.pdf)
• Lynch syndrome-related cancer risk tests (to launch in spring 2026): Recommended for patients with criteria assessment indicating elevated risk for colorectal or endometrial cancer, as well as other cancers including ovarian, stomach, small bowel, urinary tract, hepatobiliary, pancreatic, brain, and certain skin cancers. (Reference: https://www.ncbi.nlm.nih.gov/books/NBK1211/pdf/Bookshelf_NBK1211.pdf)
• Familial hypercholesterolemia-related risk tests (to launch in spring 2026): Recommended when criteria assessment indicates elevated risk for coronary artery disease, stroke, or another form of atherosclerotic disease. (Reference: https://www.ncbi.nlm.nih.gov/books/NBK174884/pdf/Bookshelf_NBK174884.pdf)

FAQs

You may want additional information about the program. Here are the answers to some of the questions we hear most often.

Program Overview

Q1: What is the Genomic eSCREEN Program (GSP)?
A: It is an EPIC-integrated, criteria-based screening program that identifies patients with a higher likelihood of inherited disease risk and prompts referral to the Genomic Medicine Team for expert evaluation.

Q2: Why does my patient have a best practice advisory?
A: The system triggers the advisory when the patient data in the EHR (e.g., personal or family history, diagnoses, labs) meet evidence-based criteria associated with hereditary disease risk.

Q3: Does this alert mean my patient definitively has a genetic condition?
A: No. It indicates increased likelihood of inherited risk, not a diagnosis, and prompts referral to Genomic Medicine for expert review to determine whether genetic testing is appropriate.

Q4: Why should I follow the advisory’s recommendations?
A: When we identify inherited cancer or cardiovascular risk early, we can offer guideline-directed prevention, targeted screening, and testing of family members, often before disease develops.

Testing

Q5: What if my patient has already had genetic testing?
A: The Genomic Medicine Team reviews prior testing to assess completeness and relevance and to determine if we need to perform additional testing or revise the recommendations.

Q6: What if prior genetic testing was negative?
A: A negative result does not always exclude inherited risk; current guidelines may still indicate a need for updated testing or modified screening recommendations.

Q7: How will I receive the results?
A: We document all results and recommendations in the EHR and route the note back to you (the referring provider).

Appointment Logistics

Q8: Are appointments in person or virtual?
A: Visits are available either in person at our clinic on 5 E 98th St 11th floor or via telemedicine.

Q9: How does the evaluation and testing process work?
A: We usually perform the initial consultation within weeks of referral. If we perform testing, results are typically available in about 4 weeks. Then we will meet with the patient again to review findings and discuss next steps.

Insurance and Privacy

Q10: Is genetic testing covered by insurance?
A: When the patient meets the clinical criteria, insurance companies typically cover the cost of testing. The Genomic Medicine Team will handle the insurance review and counseling on cost.

Q11: How do you address genetic privacy and discrimination concerns?
A: We review the genetic privacy protections and their limitations during the initial consultation. Then patients can decide whether to proceed with testing.

Please contact us at. 212-824-9600 or via email (GenomicMedicine@mssm.edu) if you have any additional questions regarding the Genomic eSCREEN Program.