Division of Genetics and Genomics Patient Resources

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If you or your child has a known or possible genetic condition, or if you are an expectant parent with a genetic condition in the family, we are here to help. Through a genetics evaluation, our goal is to provide a diagnosis, answer your questions and connect you with follow-up care. The Clinical Genetics team can provide ongoing care in some cases, or we may refer you to a specialist or specialty program within the hospital.

How should I prepare for my visit?
Depending on your insurance plan, you may need to get a referral from your primary care doctor or specialist before your appointment. We may contact you to request that your medical records be forwarded, since the more information we have, the more help we can give. If need be, you can also bring these records to your appointment.

What happens during a genetics visit?
A first visit typically lasts 1 to 2 hours; return visits are usually shorter. You and/or your child will meet with at least one member of the Genetics team:

  • a genetic counselor—a professional with graduate training in both clinical genetics and counseling
  • a clinical genetics fellow—a physician receiving post-graduate training in clinical genetics
  • a geneticist—a physician with special training in clinical genetics 

If the appointment is for your child, you will be asked about your pregnancy, your child’s birth history, and her developmental, medical and family history. Should there be something you do not wish to discuss with your child present, it may be helpful to bring a third person along who can sit with her in the waiting room.

At the end of the visit, we may suggest you see other specialists within the hospital.

What tests will be done?
You or your child will have a specialized physical exam as part of the first appointment. We may suggest imaging tests such as x-rays or magnetic resonance imaging (MRI), as well as genetic and sometimes metabolic tests (these will require a urine or blood sample, which can usually be collected the same day as your appointment.) You will receive a detailed explanation of these tests and their implications, but please don’t hesitate to ask questions at any point. The geneticist may recommend that you check with your insurance company about coverage in advance of testing.

Your follow-up appointment
We will schedule a follow-up appointment to discuss the results of our evaluation. You will likely have many questions about what the results mean for you, your child and the family. If a diagnosis can be made, we will share what is known about the condition, including:

  • its cause
  • the pattern of inheritance within families
  • the prognosis for you or your child
  • the risk that future family members will be affected
  • available resources • the availability of prenatal testing for the condition
  • testing for family members
A letter documenting your evaluation, test results and any referrals will be sent to you and your physician and will become part of your (or your child’s) medical record. Your evaluation and diagnosis will not be discussed or shared with family members or professionals from other institutions without your written consent.

What if a diagnosis can’t be made?
Unfortunately, despite extensive evaluations, we cannot always make a specific genetic diagnosis. However, we will give you as much information as possible so you and your family can make the best decisions. We often recommend that you come back for a follow-up visit in the future. Genetic knowledge and genetic testing are advancing rapidly, and certain genetic conditions become more apparent with time.

Is genetic testing covered by insurance?
Some genetic testing, but unfortunately not all, is covered by health insurance. We suggest you become familiar with your insurance plan so that you understand its rules and coverages. Our clinicians can provide pre-authorizations and letters of medical necessity to encourage payers to cover your tests. Additional information and help is available from our resource specialist and from the hospital’s Financial Services customer support team (617-355-3397). 

How do I get my results?
We can provide you with a timely summary of your evaluation via the hospital’s MyChildren’s portal. The results will then become part of your or your child’s medical record and will be available for you to see, as well as all of your Boston Children’s providers, along with other clinical notes. If you’re not enrolled yet, you can sign up for MyChildren’s here.

I want to help further research. How can I participate?
There are many opportunities for families to help further genetic discovery. Ask your geneticist or genetic counselor if there are any studies you or your child might be eligible to join. You can also visit our Clinical Studies page to learn about studies that are currently enrolling.

Where can I go for support?
Boston Children’s offers a variety of family support groups—just ask your child's care team. In addition, the Center for Families at Boston Children’s offers Family to Family, a peer mentoring program that connects patients and families with others who are facing similar health-related challenges.

Below are some general support groups that people have found helpful. Your geneticist or genetic counselor may be able to provide additional resources. There are also many support groups for individual disorders.

Visit For Patients and Families for a wealth of information on getting to Boston Children’s, accommodations and resources available to families, plus general information on preparing your child for their visit.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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