Genetics and Genomics
Discover our services
- Overview
- Our Clinics
- Frequently Asked Questions
- Variant Curation Task Force
- eConsult Service
- Patient Education
Overview
Genetics and genomic medicine services are provided by multidisciplinary experts across Mass General Brigham. Patients can receive care at either Massachusetts General Hospital or Brigham and Women’s Hospital, depending on which location is most convenient for them.
Genetic information can help guide the diagnosis, prognosis, and treatment of conditions that are tailored to an individual's specific genetic profile. The health care providers in these clinics provide risk assessment, testing, diagnosis, counseling, and disease management for patients with or at risk for a variety of inherited diseases. They are experts in the diagnosis, management and counseling for issues related to preconception, prenatal, pediatric and adult-onset disease.
Our Clinics
To schedule an appointment or refer a patient to a Genetics and Genomic Medicine clinic, please call the relevant clinic directly using the contact information listed below.
Allergy/Immunology
Mass General
Instructions for referring providers:
- Referral code: REF724
Conditions treated:
- Immune deficiency
- Immune dysregulation
Cancer Genetics
Cancer genetics provide an understanding of the genetic variations and mutations that contribute to the development and growth of cancerous tumors.
Mass General Center for Cancer Risk Assessment
Phone: (617) 724-1971
Email: MGHCancerCenter@partners.org
Instructions for referring providers:
- Referral code: REF1069
Conditions treated:
- Inherited cancer susceptibility
Subspecialties:
- Breast Cancer Genetics
- GYN Cancer Genetics
- GI Cancer Genetics
- Prostate Cancer Genetics
- Renal Cell Carcinoma/VHL Genetics
- Endocrine Tumors Genetics
- Neuro Onc Genetics
- SNaPshot/Tumor Genetics
- Melanoma Genetics
- Pediatric Onc Genetics
Mass General Cancer Early Detection and Diagnostics
Phone: 781-487-6212
Instructions for referring providers:
- Referral code: REF1080
Conditions treated:
- Patients with an abnormal finding, strong family history/high risk, or want multi-cancer detection blood tests
Educational Videos
Cardiovascular Genetics
Cardiovascular genetics provides an understanding of how genetic variations and mutations can contribute to the development, progression, and risk of various heart and vascular conditions.
Mass General
Phone: 617-724-9225
Email: cardiogenetics@mgb.org
Instructions for referring providers:
- Referral code: REF2103031 (Ambulatory Referral to MGB Cardiology – Employed Practices)
- Select “Cardiovascular Genetics” button under “refer to cardiology program”
- Include your reason for referral (e.g., dilated cardiomyopathy, aortic aneurysm)
Conditions treated:
- Aortopathies
- Arrhythmias
- Cardiomyopathies
- Coronary artery dissections
- Familial hypercholesterolemia
- Premature coronary artery disease
Brigham and Women’s Hospital
Phone: (857) 307-4000
Instructions for referring providers:
- Referral code: REF537
- Select cardiovascular genetics
Conditions treated:
- Cardiomyopathies
- Inherited arrhythmia syndromes
- Aortopathy and other genetic vascular diseases
- Familial hypercholesterolemia
Educational Video
Endocrine Genetics
Endocrine genetics provide an understanding of the genetic variations and mutations that contribute to diseases of the thyroid, parathyroid, and adrenal glands.
Mass General
Instructions for referring providers:
- Diabetes Referral code: REF729
- Endocrine tumors Referral code: REF1069
Conditions treated:
- Diabetes
- Adrenal tumors
- Parathyroid tumors
- Thyroid tumors
Brigham and Women’s Hospital
Instructions for referring providers:
- Referral code: REF506
- Select “Endocrine Genetics” subspecialty
Conditions treated:
- Familial Paget
- Familial pituitary adenomas hypogonadism
- Klinefelters
- Hypothalamic obesity
- MEN1/MEN2
- Hypophosphatasia gonadal dysgenesis
- Familal hypocalciuric hipercalcemia
- Primary ovarian insufficiency
Gastroenterology
Mass General
Instructions for referring providers:
- Referral code: REF731
Conditions treated:
- Liver disease
- Recurrent pancreatitis
Medical Genetics and Metabolism
Symptomatic patients should be seen by this clinic team.
Mass General
Phone: (617) 726-1561
Instructions for referring providers:
- Referral code: REF11788
Neurogenetics
Neurogenetics helps provide a better understanding of the role of genes in the development and function of the nervous system. It explores how genetic variations or mutations can influence brain structure, function, and behavior.
Mass General
Phone: (617) 726-5732
Instructions for referring providers:
- Referral code: REF758
- Select Jin Yun “Helen” Chen as the preferred provider
Conditions treated:
- Mitochondrial disorders
- Movement disorders
- Neuro-metabolic diseases
- Neuromuscular disorders
- Leukodystrophies
- Genetic epilepsy
- Pediatric neurodevelopmental disorders
- Ataxia
- Adult neurodegenerative
Brigham and Women’s Hospital
Instructions for referring providers:
- Referral code: REF12359
- Select the neuromuscular genetics subspecialty
Conditions treated:
- Muscular dystrophies
- Congenital myopathies
- Metabolic myopathies
- Hereditary neuropathies
- Hereditary myelopathies
Movement Disorders Clinic
Phone: 617-533-0921
Instructions for referring providers:
- Epic Referral Code: REF12359
- Select "Movement Disorders" specialty, note "Neurogenetics" on the referral
Conditions treated:
- Parkinson's disease
- Multiple system atrophy
- Progressive supranuclear palsy
- Cortical basal ganglionic degeneration
- Dementia with Lewy bodies
- Restless leg syndrome
- Tardive dyskinesia
- Hemifacial spasm
- Ataxia
- Tremor
- Myoclonus
- Dystonia, including focal dystonia such as blepharospasm, cervical dystonia, Meige syndrome, and generalized dystonia
- Tourette syndrome and other tic disorders
- Wilson disease
Epilepsy Genetics Clinic
Phone: 617-355-8000
Opthalmology Genetics
Opthalmology genetics provide an understanding of the genetic variations and mutations that contribute to diseases of the eyes.
Mass General
Instructions for referring providers:
- Referral code: REF210783
Conditions treated:
- Inherited retinal conditions (RP, LCA, macular dystrophy)
- Vitreoretinopathies
- Optic atrophy
- Glaucoma
- Retinoblastoma
- Corneal dystrophy
Preventive Genomics
Mass General
Phone: (617) 643-0303
Email: MGHPGCS@mgh.harvard.edu
Instructions for referring providers:
- Referral code: REF10242
- We are accepting referrals from all MGH Primary Care Practices.
Services provided:
- Preconception carrier screening
- Hereditary breast cancer susceptibility testing
- Assistance with direct-to-consumer results
Brigham and Women’s Hospital
Phone: 617-525-7311
Email: preventivegenomics@bwh.harvard.edu
Services provided:
- Whole genome sequencing
- Preventive genomic screening panels
- Pharmacogenomic testing
- Polygenic risk score testing
Pulmonary Genetics
Pulmonary genetics provide an understanding of the genetic variations and mutations that contribute to lung and respiratory diseases.
Mass General
Instructions for referring providers:
- Adult Referral code: REF1256
- Pediatric Referral code: REF958
Conditions treated:
- Adult:
- Atypical cystic fibrosis
- Non-cystic fibrosis bronchiectasis
- Primary ciliary dyskinesia
- Familial interstitial lung disease
- Recurrent sinopulmonary infection
- Children:
- Asthma
- Bronchopulmonary dysplasia
- Cystic fibrosis
- Recurrent or persistent pneumonias
- Unusual respiratory infections
- Aerodigestive disorders
- Immune deficiencies
- Congenital lung malformations
- Neuromuscular disorders leading to chronic lung problems
- Interstitial lung disease
- Apnea
- Exercise related disorders
- Sleep related breathing problems
Adult Cystic Fibrosis Center
Renal Genetics
Renal genetics provides an understanding of how genetic variations and mutations can contribute to the risk of developing kidney disorders.
Mass General
Instructions for referring providers:
- Referral code: REF1022
- Select Andrew Lundquist as the preferred provider
Conditions treated:
- Renal cystic disease
- Chronic kidney disease of unclear etiology or early onset
- Glomerular disease
- Electrolyte disorders
- Nephrolithiasis
Brigham and Women’s Hospital
Instructions for referring providers:
- Referral code: REF508
- Select genetic kidney disease
Conditions treated:
- Alport syndrome
- APOL1-mediated kidney disease
- Autosomal dominant polycystic kidney disease (ADPKD)
- Autosomal dominant tubulointerstitial kidney disease (ADTKD)
- Chronic kidney disease with an unclear cause or early onset
- Ciliopathies/nephronophthisis
- Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
- Fabry disease
- Focal segmental glomerulosclerosis (FSGS) and podocytopathies
- Genetic complement-mediated kidney disease
- Genetic tubulopathies
- Nephrolithiasis
- Renal cystic disease
- Steroid-resistant nephrotic syndrome
- Thin basement membrane nephropathy
- Tuberous sclerosis complex
Reproductive Genetics
Reproductive genetics provides an understanding of how genetic variations and mutations can influence fertility, reproductive disorders, and the risk of inherited genetic conditions for children.
Mass General
Phone: (617) 724-9009
Instructions for referring providers:
- Referral code: REF1008
Conditions treated:
- Inherited conditions
- Fetal anomalies
- Maternal and fetal genetic conditions
- Genetic screening in pregnancy (carrier screening, NIPS—Aneuploidy, NIPS—Single Gene Disorders)
Brigham and Women’s Hospital
Phone: 617-732-4208
Instructions for referring providers:
- Referral code: REF12234
- Select prenatal and reproductive genetics
Conditions treated:
- Inherited conditions
- Fetal anomalies
- Maternal and fetal genetic conditions
- Genetic screening in pregnancy (carrier screening, NIPS—Aneuploidy, NIPS—Single Gene Disorders)
Newton-Wellesley Hospital
Phone: 617-243-5909
Instructions for referring providers:
- Referral code: REF585
Conditions treated:
- Prenatal/Preconception genetic indications
Wentworth-Douglass Hospital
Phone: 603-516-0092
Instructions for referring providers:
- Referral code: REF10011
Conditions treated:
- Prenatal/Preconception genetic indications
Frequently Asked Questions
Have questions about genetics, genomics, or genetic counseling? We've compiled a list of frequently asked questions to help you better understand these complex and important topics. If you can't find the answer you're looking for, feel free to reach out to us for more information.
To schedule a genetic counseling appointment, refer to our specialized clinics above.
What Is Genetics?
Genetics is the branch of biology that explores the inheritance of traits and characteristics from one generation to the next. It's all about the study of genes, DNA, and how they impact our health and development.
What Is Genomics?
Genomics takes genetics to the next level. It's the study of an organism's entire genome, which includes all of its genes and DNA sequences. Genomics allows us to understand the big picture of how genes work together to influence various aspects of our biology.
What Is Genetic Counseling?
Genetic counseling is a personalized process that helps individuals and families understand the role of genetics in their health and well-being. Genetic counselors are trained professionals who provide information, support, and guidance regarding genetic conditions, testing options, and the implications of genetic results.
Why Is Genetics Important?
Genetics plays a crucial role in our lives. It can help us understand the risk of inherited diseases, guide treatment decisions, and even uncover our ancestry. Genetics is a powerful tool for personalized medicine and health care.
What Are the Benefits of Genetic Testing?
Genetic testing can provide valuable information about your genetic makeup, risk factors for certain diseases, and potential treatment options. It can empower individuals to make informed decisions about their health and family planning.
Is Genetic Testing Right for Me?
Whether genetic testing is right for you depends on various factors, including your personal and family medical history. Consulting with a genetic counselor can help you determine if genetic testing is appropriate and beneficial for your situation.
How Does Genetic Counseling Work?
Genetic counseling involves a comprehensive evaluation of your family history, medical records, and personal goals. Your genetic counselor will discuss your options, the benefits, and risks of testing, and help you make informed decisions about your genetic health.
Can Genetic Information Be Kept Private and Confidential?
Yes, genetic information is protected by strict privacy laws, such as the Genetic Information Nondiscrimination Act (GINA). Your genetic information is kept confidential just like all your other medical information.
How Can I Schedule a Genetic Counseling Appointment?
To schedule a genetic counseling appointment, refer to our specialized clinics above.
How Can a Genetic Counselor Help Me?
Genetic counselors at Mass General Brigham are trained in both medical genetics and counseling. In collaboration with other specialists, they can:
- Help you understand your health risks based on your personal or family history
- Enable you to make an informed decision about genetic testing
- Explain results and the implication of the results for family members
- Help you to develop a personalized medical plan
- Provide psychosocial supports that help you process the medical, emotional implications
- Connect you to resources, support groups and other research opportunities
Variant Curation Task Force
The Variant Curation Task Force provides resources and guidance to Mass General Brigham providers about the classification and interpretation of genetic variants. If you have questions about a specific variant that has been found on testing or would like general information about how to classify variants and implement the ACMG guidelines, please send an email to variantcurationrequests@mgb.org. We can also provide trainings and consultations to those interested.
Additionally, please reference our educational handouts for more information on variant curation and how to read genetic testing reports.
- Variant Curation Evidence
- Reading a Genetic Test Report (PDF)
- Assessing a Variant of Uncertain Significance (VUS) (PDF)
eConsult Service
If you are a physician and have a clinical question about genetics and genomics, please consider using our eConsult service, available as an EPIC order.
Our eConsult service can address questions pertaining to:
Medical Genetics
- Pediatric patients
- Developmental delays
- Physical abnormalities
- Seizures
- Metabolic issues obesity
- Ehlers-Danlos syndrome, Marfans syndrome, and connective tissue disorders
- Methylenetetrahydrofolate reductase (MTHFR) gene mutation
- Chromosomal aberrations/duplications
- Klinefelter
- Gaucher disease, mitochondrial/lysosomal storage disease
- Hemochromatosis
Cancer Genetics
- Breast, ovarian, prostate, or pancreatic cancer
- Melanoma
- Gastrointestinal cancer, Lynch Syndrome including uterine cancer, pre-leukemia
At this time, our eConsult pool does not have a neurology or cardiology genetics specialist.
To enter an eConsult 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
Patient Education
- Ehlers Danlos Syndrome: What You Need to Know
- Carrier Screening Recommendations for Pregnant and Family Planning Individuals
- Cancer Genetics 101
- Talking to Kids About Hereditary Cancer
- About Hereditary Ovarian Cancer
- Choosing the Right Cancer Genetic Test
- Strategies to Manage Stress and Increase Resilience
- About Inherited Heart Disease
- Genes, Family Trees, and Complex Disease
- Pharmacogenomics
- I Have a Family Member with Dementia. Am I at Risk?