Medical Genetics

About the Program

The Genetics Program specializes in the evaluation and care of pediatric and adult patients who may have health problems with a hereditary, genetic, or metabolic basis. These conditions include the care of a newborn baby with a physical difference at birth, a newborn with a metabolic condition detected by newborn screening, children or adults with developmental delay or autism, a pregnant person carrying a baby with a suspected genetic condition, or an adult with a family history or suspected diagnosis of an adult-onset genetic condition.  

Comprehensive Range of Services

Our staff includes physicians board-certified in clinical genetics and physicians trained in metabolism as well as genetic counselors and metabolic nutritionists with extensive experience treating a comprehensive range of indications including: 

• Autism spectrum disorder and other neurodevelopmental syndromes 
• Overgrowth syndromes such as Beckwith Wiedemann syndrome 
• Chromosomal disorders such as Klinefelter Syndrome, Turner syndrome, Down syndrome, trisomy 18, trisomy 13, 22q11.2 deletion syndrome and others 
• Craniofacial differences such as cleft lip and palate or craniosynostosis 
• Multiple congenital physical differences 
• Skeletal dysplasias and other genetic causes for short stature 
• Deafness/Inherited hearing loss conditions 
• Lysosomal disorders 
• Metabolic disorders 

Our clinical team of physicians, genetic counselors, postgraduate physicians in training, and dieticians provide families with diagnosis, treatment, genetic counseling, and follow-up care in a supportive environment. Our state-of-the-art genetics laboratories and our participation in current research ensures patients receive the latest testing and treatment options. 

Genetic disorders are chronic and, in some cases, life-threatening. In addition to the diagnosed individual, family members may be affected. Understanding the basis for these conditions helps families learn about possibility to have a child with a genetic diagnosis.

We are equipped to treat the whole family, from diagnosis to counseling and follow-up care. We have specialists who are trained in the diagnosis, genetic counseling and care of genetic conditions specific to each stage of life. Our care coordinator is available to help families navigate the multispecialty care that is often needed. 

As part of Massachusetts General Hospital, we are an integral part of a world-renowned academic medical center, and we collaborate with specialty units throughout the hospital to ensure the best care for our patients. 

Programs

• General Genetics Clinic at Mass General 
• Metabolic Disorders Program
• Lysosomal Storage Disorders Program 
• Down Syndrome Program 
• Klinefelter syndrome
• Turner Syndrome Clinic 
• Hereditary Hemorrhagic Telangiectasia (HHT) Center 
• Myhre Syndrome Clinic 
• Pitt Hopkins Clinic 
• Stickler and Marshall Syndromes Clinic 
• 22q.11 Deletion Syndrome Clinic 
• Williams Syndrome Clinic 
• The Murray Feingold Coordinated Genetics Service

We know that the time of your child’s illness and diagnosis is a very stressful one and we strive to provide an open, welcoming environment dedicated to making children and their families feel at ease. We believe that no one knows a child as well as the parent does. Parents, along with primary care providers, become our partners in a child's care and have an active voice in all treatment plans. We have a dedicated care coordinator to provide support to families in navigating complex care needs.  

Patient Resources

View the full collection of patient resources from the Genetics Program at MGfC.