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 at the Genetic Syndromes Program at Tufts Medical Center, 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 counselor will be with you every step of the way.

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

  • Down syndrome
  • Neurofibromatosis
  • Velocardiofacial syndrome (22q11.2 deletion)
  • Cystic fibrosis
  • Marfan syndrome
  • Williams syndrome
  • Fragile X syndrome and other cognitive disorders

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
  • Presymtomatic and predictive testing to determine if you're at risk for conditions such as early onset Alzheimer's disease, 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
  • Prenatal screening and follow-up for abnormal newborn screening

At Tufts MC, we're committed to keeping health care affordable. While insurance coverage for genetic testing varies, we can 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 & Metabolism Division provides diagnosis, evaluation and lifelong care for adults and children with genetic and metabolic disorders. Our experienced team helps 1,500 patients a year to optimize their well-being by taking control of their condition.

What Is a Genetic Counselor?

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

At Tufts MC, your 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 for our services.

Referring Physician Resources

We value our relationship with primary care physicians, and we're committed to communicating with you throughout your patient's genetic screening or treatment.