Researchers have identified three functional subtypes of these cells, which correspond to patients’ treatment response.
Explore This Clinic
About the Program
The Massachusetts General Hospital’s Preventive Genomics Clinic empowers patients to better understand, predict and prevent disease using genetic information.
We have made tremendous progress in discovering subtle differences encoded in our DNA that can significantly change risk of important diseases—including cardiovascular disease, cancer and diabetes. The next chapter is to translate these discoveries into enhanced care for our patients.
Our clinic brings together a team of genetic counselors, clinical geneticists and physicians to provide individualized testing and treatment plans based on state-of-the-art genome interpretation. We work with our patients and their health care teams to develop a plan aimed at minimizing any risks identified for patients and their families, including helping to decide if genetic testing is right for you and discussing previous genetic testing results.
Common reasons for referral to our clinic include:
- Consideration of genetic testing based on family history
- Preventive genomic risk assessment (such as clinical whole genome sequencing or expanded carrier screening) for healthy individuals
- Follow-up consultation for prior genetic testing (direct-to-consumer genetic test results, genetic research results such as those from the Partners HealthCare Biobank, genetic test results shared by family members)
About the Appointment
Note for MA residents and non-MA residents in light of COVID-19: If you are a Massachusetts resident, your Preventive Genomics Clinic visit can be virtual (over Zoom) and we can coordinate genetic testing remotely. The genetic testing lab will send a saliva sample collection kit to your home with instructions and a return shipping label. If you are an out-of-state patient, you will need to come into Boston for an in-person visit. We will provide you with a saliva sample collection tube and will send out your sample to the lab.
How can I make an appointment with the Preventive Genomics Clinic?
If you would like to request an appointment in the Preventive Genomics Clinic, please contact us directly at 617-643-0303 or MGHPreventiveGenomics@mgh.harvard.edu.
What can I expect from my appointment?
You will meet with a genetic counselor and a doctor. We will collect important information about your personal and family history and answer any questions you may have. If you have an interest in genetic testing, we will help you decide which genetic tests will be most helpful for you, and discuss the benefits and limitations of these tests.
What if I already have had genetic testing?
We are happy to discuss previous genetic testing results with patients who have questions about what their results mean or seek a second opinion. Together, we can help you interpret the results, get referrals to necessary medical providers and provide recommendations for your health care maintenance.
What should I bring with me?
Being prepared will help you get the most out of your visit in the Preventive Genomics Clinic. It may be helpful to bring the following information or documents with you to your appointment:
- Your family history:
- Discuss your health history with your family members, and write it down
- Be sure to ask about any medical conditions in your siblings, parents, aunts, uncles, cousins, grandparents, children and grandchildren
- If you need guidance on the questions to ask your family members, you can find additional resources here
- Genetic testing results: If you or a family member has had genetic testing in the past, a copy of the results will be helpful to review during your visit
- Your medical records: Any relevant medical records from non-Mass General Brigham institutions will be helpful to bring with you
- Your insurance card
- A list of questions you hope to have addressed during your visit
What if I don’t have information about my family history?
There are many reasons why a patient may have a limited family history. We can still provide you with information if you are adopted or have limited knowledge of your family history.
Will my insurance cover my appointment?
An appointment in the Preventive Genomics Clinic may be covered by your health insurance. However, your specific plan may require that you get a referral for your appointment, and may not cover the cost of an appointment. It is important to check with your insurance company to find out about your specific coverage.
How should I get to my appointment?
- If you are planning on taking the T or commuter rail, we are close to both the North Station and Haymarket MBTA stations
- If you plan to drive, there are several parking garages close by including the 101 Merrimac Garage, Haymarket Garage, Stanhope Garage and TD Garden Parking Garage.
- Please note, we are unable to offer validated or reduced-price parking at this time.
What if I’m a new patient at Mass General Brigham?
If you are a new patient or need to update your insurance information, please call the Mass General Registration and Referral Center at 866-211-6588.
About Genetic Testing
What types of genetic testing options are there?
There are many types of genetic tests, from tests that look at a small, targeted list of genes, to those that read all of the letters of your genetic code. We will review the options with you to help you decide which test is right for you.
How is genetic testing done?
Genetic testing is typically performed on a blood sample when possible. In some situations, genetic testing can be performed on other types of samples, such as saliva.
How long will it take for me to get my genetic testing results?
Turnaround time for genetic testing depends on the type of test that is ordered. Some results can be returned within 2-3 weeks, while others may take several months. Your clinicians will review this with you.
Will my genetic testing be covered by my insurance?
Not all insurance plans cover the cost of genetic testing. We will help you navigate insurance coverage and potential costs before genetic testing is ordered.
The Preventive Genomics Clinic serves individuals who are interested in their risk of genetic disease but typically do not have symptoms of disease. Reasons for referral to our clinic include:
- Consideration of testing based on family history
- Preventive genomic risk assessment (such as clinical whole genome sequencing) for healthy individuals
- Follow-up consultation for prior genetic testing (direct-to-consumer genetic test results, genetic research results such as those from the Partners Biobank, genetic test results shared by family members)
Some patients, such as children or patients with past or current symptoms of an inherited condition, may be directed to other genetics clinics, as appropriate.
How do I refer to the Preventive Genomics Clinic?
If you have a patient that you would like to refer to our clinic, please contact us through one of the following:
- Place a referral order in Epic for “AMBULATORY REFERRAL TO MGH PREVENTIVE GENOMICS CLINIC”
- Email us at MGHPreventiveGenomics@mgh.harvard.edu
- Call us at 617-643-0303
If you have a clinical question, please consider using our eConsult service, available as an Epic order:
- Click on “+ Meds and Orders”
- Enter “MG Econ” in the search field
- Find “Ambulatory MGH Genetics and Genomics E-Consult”
- Submit your order with your specific question/request
About Our Polygenic Risk Score Test
We offer a polygenic score for coronary artery disease—the disease process that causes heart attacks—in the Preventive Genomics Clinic. Polygenic scores are a new type of genetic test used to estimate your risk for important diseases based on a combination of risk variants across your genome. The test tells you how your genetic risk for heart disease compares to the genetic risk of other people. This is different from most genetic tests that look for the presence or absence of a single genetic variant that has a large impact on your disease risk. A polygenic score assessment may help you and your care team personalize a plan to prevent or understand heart disease. This score was developed by our group at Mass General and the Broad Institute and published in the leading genetics journal, and is calculated by Color Health.
Frequently Asked Questions About the Polygenic Risk Score Test
What does the test tell me?
This test may provide you with information about your genetic risk to develop coronary artery disease. The test will also provide you with information about your risk to develop some cancers and information about how your genetics may effect your body’s response to certain medications.
Do I need to come for an in-person visit to get this test?
If you are a Massachusetts resident, your visit can be virtual and we will coordinate testing remotely. The genetic testing lab will send a sample collection kit to your home with instructions and a shipping label to return your saliva sample.
If you are an out-of-state patient, you will need to come into Boston for a visit. We will provide you with a saliva sample collection tube and will send out your sample to the lab.
What will I have to pay to get this test?
Visits in the Preventive Genomics Clinic are billed as outpatient clinical services to you or your insurance. The polygenic score test costs $249 out of pocket and is not currently covered by insurance.
Note: We are currently doing a research study to better understand how this test impacts medical care for patients. If you choose to participate in our research study, you will be asked to complete three short surveys and the cost of the polygenic score test will be waived. If you choose not to participate in our study and simply receive our clinical services, the test costs $249 out of pocket. The initial and followup visits are billed like any other clinical visit, and patients should consult their insurance plans for more information on visit coverage.
If you are interested in participating, please email MGHPreventiveGenomics@mgh.harvard.edu with “PRS Cardio Test” in the subject line. If you have any questions about the study, please contact our Genetic Counselor, Deanna Brockman, at firstname.lastname@example.org or our physician research assistant, Dimitri Maamari, at email@example.com.
Meet Our Team
Chief Genomics Officer
Heidi Rehm, PhD is a board-certified laboratory geneticist and serves as the Chief Genomics Officer at Mass General. Prior to joining Mass General, Dr. Rehm built and led the Partners Laboratory for Molecular Medicine for 15 years. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of ClinGen, providing publicly accessible resources to support the interpretation of genes and variants. Dr. Rehm also co-leads the Broad Center for Mendelian Genomics with Daniel MacArthur focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery.
Dr. Rehm received her bachelor's degree from Middlebury College in molecular biology and biochemistry. She completed her PhD in genetics at Harvard University studying the genetic and pathological basis of Norrie disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Mass General and the Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss.
She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as a Vice Chair of the Global Alliance for Genomics and Health. Dr. Rehm is also a principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support and a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the U.S.
Amit V. Khera, MD, MSc is a cardiologist at Mass General, Associate Director of the Precision Medicine Unit in the Mass General Center for Genomic Medicine and Associate Director of the Cardiovascular Disease Initiative at the Broad Institute of MIT and Harvard.
He received his MD with Alpha Omega Alpha distinction from the Perelman School of Medicine at the University of Pennsylvania, and went on to complete clinical training in internal medicine and cardiology at Brigham and Women's Hospital and MGH. He completed a Masters of Science from the Harvard School of Public Health, and a postdoctoral research fellowship in human genetics at the Broad Institute of MIT and Harvard prior to accepting a faculty position.
He has developed substantial expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered a new approach to quantify genetic risk for common diseases, developed biomarkers that provide new biologic insights, and analyzed large-scale gene sequencing data to highlight key pathways underlying risk for cardiometabolic disease. His research program uses genetic variation as a tool to uncover new biology and enable enhanced clinical care informed by inherited susceptibility. In tandem with his research efforts he is co-leading a new Preventive Genomics Clinic to provide a clinical infrastructure for genome-first medicine.
Dr. Khera has authored more than 50 scientific publications, including lead-authored publications in the New England Journal of Medicine, Journal of the American Medical Association, Cell, Nature Reviews Genetics, Nature Genetics, Journal of the American College of Cardiology and Circulation. He is a 2017 recipient of the National Lipid Association Junior Faculty Award and the 2019 recipient of the Douglas P. Zipes Distinguished Young Scientist Award from the American College of Cardiology.
Dr. Hull joined the faculty in the Division of General Internal Medicine at Mass General in 2019. She is a general internist working to equip primary care physicians to incorporate genetic testing modalities in their practice to improve and personalize patient care.
She completed her BA in molecular biology with honors from Princeton University in 2008, her MD at Stony Brook University School of Medicine in 2013, and a primary care-focused internship and residency at University Hospitals Case Medical Center and the Louis Stokes Cleveland VA in 2016. She is a member of the Gold Humanism and Alpha Omega Alpha Honor societies. Following her residency, she obtained additional training in health services research methods through the Harvard General Internal Medicine Fellowship and Boston VA's Center for Healthcare Organization and Implementation Research, and completed her MPH at the Harvard School of Public Health in 2018.
Alexander Bick is a physician-scientist in the Mass General Department of Medicine with a clinical and research focus on genomic medicine. He received his MD and PhD degrees from Harvard Medical School and is completing his clinical training at Massachusetts General Hospital. His research has focused on defining the contribution of rare mutations to the health of individuals in the general population. His work has been published in Science, New England Journal of Medicine, JAMA and Nature Genetics. In 2015, he was named to the Forbes “30 Under 30” list in health care.
Renee Pelletier, MS, CGC
Genetic Counselor, Clinical Lead
Renee Pelletier is a genetic counselor for the Preventive Genomics Clinic and Center for Genomic Medicine, where she works on both clinical and research initiatives related to genomic medicine. She earned her BS in biology from Northeastern University, and obtained her master’s degree in genetic counseling at Boston University. Prior to joining the Center for Genomic Medicine, she was a genetic counselor in the Mass General Center for Cancer Risk Assessment, where she met with patients in the breast/ovarian and GI cancer genetics clinics in both Boston and Danvers. She has research interests in the equitable implementation of clinical genomics, and additionally serves on the Public Policy Committee for the National Society of Genetic Counselors.
Deanna Brockman, MS, CGC
Genetic Counselor, Research Lead
Deanna Brockman is a genetic counselor in the Center for Genomic Medicine and Preventive Genomics Clinic, where she leads research initiatives related to improving the implementation of genomic medicine at Mass General. She also serves as a liaison between Mass General and The Broad Institute of MIT and Harvard where she has helped to establish a pipeline for clinical whole genome sequencing at Mass General and currently drives research aimed at improving the communication of polygenic scores. Deanna received her BS in biology from SUNY Geneseo, and her master’s degree in genetic counseling from Boston University School of Medicine.
Lulwa El Saket
Genetic Counselor Assistant
Lulwa El Saket is a Genetic Counselor Assistant (GCA) for the Preventive Genomics Clinic, the Center for Genomic Medicine, and the Medical Genetics Program. She obtained her BSc in Biological Sciences from The George Washington University, where she was dedicated to being a catalyst of change by being part of advocacy organizations for rare genetic diseases and suicide prevention. Prior to her role as a GCA, she was a research assistant at a cancer biology lab. She hopes to become a genetic counselor in the future.
Genetic Counselor Assistant
Emma Folkerts is a Genetic Counselor Assistant (GCA) for the Preventive Genomics Clinic, the Center for Genomic Medicine, and the Medical Genetics Program. She received her B.S. in biochemistry from Gordon College where she was an A.J. Gordon Scholar, and studied abroad at the University of Edinburgh. Prior to working at Mass General, she served in a range of roles including rare disease patient advocacy, genetics communications, and library management. She is pursuing a career as a genetic counselor.
Clinical Molecular Geneticist
Christina Austin Tse, PhD is a clinical molecular geneticist in the Center for Genomic Medicine at Mass General and an instructor in pathology at Mass General and Harvard Medical School (HMS). She also serves as a part-time clinical molecular geneticist at the Partners Laboratory for Molecular Medicine, a CLIA-accredited molecular diagnostics laboratory. She received her PhD from the HMS Biological and Biomedical Sciences program in 2013 and completed her molecular genetics fellowship through the HMS Genetics Training Program in 2018. At Mass General, she participates in both clinical and research programs focused on genetic testing. She has more than five years experience in interpreting and reporting genetic testing results, and specializes in the analysis of clinical whole exome sequencing (WES) and whole genome sequencing (WGS) data.
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