Genetics Program Your Visit

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Prior to the Appointment

You may need to get a referral from either your or your child's primary care doctor or specialist depending on your insurance plan. It is also important that we have as much information as possible before your appointment. You may be contacted to request that medical records be sent prior to your scheduled appointment. If the medical records do not arrive before your appointment, you can bring them with you, and they can be reviewed at your appointment.

At the Appointment

Once you've arrived, your child's height, weight, and blood pressure will be taken. You will meet with at least one member of the Genetics team: a genetic counselor, a clinical genetics fellow, and/or a geneticist.

  • A genetic counselor is a professional with graduate training in both clinical genetics and counseling.

  • A clinical genetics fellow is a physician receiving post-graduate training in clinical genetics.

  • A geneticist is a physician with special training in clinical genetics.

The member(s) of the team you meet with will ask questions about:

  • The pregnancy and birth history

  • Developmental history

  • Medical history, and

  • Family History

Sometimes sensitive issues, such as adoption or exposures during pregnancy, may arise when gathering information on your child. Should there be something you do not wish to discuss with your child present, it may be helpful to bring someone to the visit with you. This person can sit with your child in the waiting room while the sensitive topic is discussed.

Next, the team member(s) will review the history and perform a specialized physical exam. Tests such as X-rays or an MRI may be ordered to help make a diagnosis. Genetic tests may also be ordered based on the history and/or physical examination. These are often blood or urine tests, and the sample can be collected the same day as your appointment. Referrals to other specialists or specialty clinics within the hospital may also be made. A follow-up appointment will be scheduled to discuss the results of any testing ordered and the results of other evaluations. For new patients, the first visit typically lasts about 1 hour. Return visits are usually shorter than this.

Information Received From the Appointment

The team member you meet with will discuss the findings of the evaluation with you. If genetic tests are ordered, the team member will explain in detail why the test is being ordered and the implications of the test during your visit. The results of any genetic testing will be fully discussed with you at a scheduled follow-up visit.

The goal of a genetics evaluation is to provide a diagnosis. Unfortunately, a diagnosis cannot always be made despite the extensive evaluations performed. If a diagnosis can be made, we will share with you what is known about the condition, including the following:

  • Cause

  • Pattern of inheritance

  • Prognosis

  • Recurrence risks

  • Available resources

  • Possibilities for prenatal diagnosis

  • Testing for family members

The Genetics Program may provide ongoing care for you, or we may refer you to a specialist or specialty program within the hospital. If a diagnosis cannot be made, we will give you as much information as possible so your family can make the best decisions. In these instances, we often recommend a follow-up visit at some point in the future as our knowledge of genetics and available genetic testing is always increasing and certain genetic conditions become more apparent with time.

After the Appointment

A letter documenting what was discussed at your appointment, testing ordered, and/or referrals made will be prepared after your visit. This letter will become part of your or your child's medical record at Children's Hospital. A copy will also be sent to you and the referring physician. Your evaluation and diagnosis will not be discussed or shared with family members or professionals from other institutions without your written consent.

Missed Visits

If you are unable to show for your visit, we ask that you call the office to cancel at least 1 business day (24 hours) in advance. We have a high demand for appointments, and this will allow other patients to use this time.

Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

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Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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If you have questions or would like more information, please call:

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