Genetics + Metabolism

Genetic Syndromes Program

How can medical genetics work for you?

Genetic syndromes are hereditary, chronic conditions caused by coding changes in your DNA.

If you've recently learned that you may have a genetic condition, you know this information can also have implications for the health of your children and other family members. It's easy to get overwhelmed by the complexity of your care and the emotional aspects of managing a genetic condition.

That's why the Division of Genetics at Tufts Medical Center and Tufts Children's Hospital, we carefully build care around your needs. From deciding if genetic testing is right for you to scheduling appointments with your specialists, our physicians and certified genetics counselors will be with you every step of the way.

At Tufts MC and Tufts Children's, we diagnose and treat common genetic conditions such as:

  • Down syndrome
  • Neurofibromatosis type 1 and 2
  • Velocardiofacial syndrome (AKA 22q11.2 deletion or DiGeorge syndrome)
  • Cystic fibrosis
  • Marfan syndrome
  • Williams syndrome
  • Fragile X syndrome and other cognitive disorders
  • Polycystic Kidney disease
  • Beckwith-Wiedemann syndrome or hemihypertrophy syndromes

Other common reasons for a referral to the Division of Genetics includes:

  • Hearing loss
  • Cleft lip and palate
  • Congenital heart defects
  • Cardiomyopathy
  • Cardiac arrhythmias
  • Seizure disorders
  • Autism or intellectual disability
  • Multiple congenital differences
  • Neuromuscular disorders
  • Growth issues (either failure to thrive or overgrowth syndromes)
  • Kidney conditions

What you can learn from genetic testing

Some of our patients are aware that a specific genetic condition, such as cystic fibrosis, runs in their family, while others have struggled for years to find a diagnosis for their symptoms.

Whatever your situation, genetic testing can help get you the information you need to make important decisions about:

  • Your health
  • Family planning
  • Your child's health
  • How to share genetic information with family members

Our services include:

  • Diagnostic testing for patients exhibiting symptoms of a genetic condition
  • Presymptomatic and predictive testing to determine if you're at risk for conditions such as polycystic kidney disease (PKD) or certain types of cancer
  • Testing to find out if you carry a specific gene mutation that may be passed onto your children, such as cystic fibrosis or genetic diseases associated with people of Ashkenazi Jewish heritage

At Tufts MC, we're committed to keeping health care affordable. While insurance coverage for genetic testing varies, we will work with you and your health insurance provider to determine what's covered under your plan.

Experts in managing genetic conditions

Management of genetic conditions can be complex. Depending on the condition, you and/or your child may experience symptoms in many different parts of the body. Optimal care may require multiple specialists working together. This can mean managing a lot of appointments, tests and treatment recommendations, and it can be hard to put all the pieces together.

That's where our team comes in. We oversee all aspects of care for you and/or your child, working with each of your specialists to ensure you have the best possible treatment plan.

Your genetic risk assessment team

Founded in the early 1960s, the Genetics Division provides diagnosis, evaluation and lifelong care for adults and children with genetic or suspected genetic conditions. Our experienced team helps patients and families to optimize their well-being by taking control of their condition.

Genetic counselors help patients and families understand genetic concepts and testing while providing support and resources to make informed decisions about their health.

At Tufts MC and Tufts Children's, our genetic counselor is your partner in care. Many patients meet with our genetic counselor at the first appointment and often at follow-up appointments. In addition, our counselor works closely with our doctors to ensure you receive accurate, up-to-date responses to all your questions.

Your genetic counselor can:

  • Help you decide if genetic testing is right for you.
  • Provide more information about your or your child's condition.
  • Review treatment plans and answer questions.
  • Assist with getting referrals to the appropriate specialists.
  • Help you talk to family members about whether they should consider genetic screening.
  • Connect you with resources such as support groups, local organizations and reliable online sources.
  • Work with your insurance company on coverage of genetic testing.

We value our relationship with primary care physicians, and we're committed to communicating with you throughout your patient's genetic screening or treatment. Please feel free to contact us if you have questions as to whether or not your patient is an appropriate candidate for genetic counseling.