Genetics and Genomics

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

A first visit typically lasts one to two hours; follow-up 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

You will be asked for details about your medical and family history. If the appointment is for your child, you will be asked for details about your pregnancy and delivery and your child’s development. (Should there be something you do not wish to discuss in front of your child, you may wish to bring a third person along who can sit with them in the waiting room.)

You or your child will also have a specialized physical exam. At the end of the visit, we may suggest you see other specialists within the hospital.

We may first offer general laboratory and imaging tests, such as x-rays or magnetic resonance imaging (MRI), to guide genetic testing. We will then suggest specific genetic tests and sometimes metabolic tests. These will require a urine or blood sample, which can often be collected the same day you come in.

You will receive a detailed explanation of these tests and their implications, but please feel free to ask questions at any point. The geneticist may recommend that you check with your insurance company about coverage before proceeding with testing.

We will schedule a follow-up appointment to discuss the results of our evaluation and answer your 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 other family members

We will send a letter documenting your evaluation, test results, and any referrals to you and your physician. The letter will become part of your (or your child’s) medical record, but your evaluation and diagnosis will not be discussed or shared with family members or others without your written consent.

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.

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).

We can provide you with a timely summary of your evaluation via the hospital’s MyChildren’s Patient Portal. The results will then become part of your or your child’s medical record and will be available to you and your Boston Children’s providers, along with other clinical notes. If you’re not enrolled yet, you can sign up for MyChildren’s here.