What to Expect at Your Appointment

At your initial visit, you will meet with our team of healthcare professionals including a medical geneticist and a genetic counselor.

• Medical Geneticist:
  Medical geneticists are medical doctors with specialized training in medical genetics. Medical geneticists evaluate, diagnose, and treat individuals and families with various genetic indications and/or specific genetic conditions.

• Genetic Counselor:
  Genetic counselors are healthcare professionals with advanced training in medical genetics and counseling to help educate and support individuals and their families with various genetic indications and/or specific genetic diagnoses. Genetic counselors can help you to understand genetic testing, interpret results, provided information on how genetic conditions might affect you and/or your family, serve as a resource, and provide emotional support and guidance.

What happens during a genetic evaluation and counseling session?

Each evaluation is different depending upon the reason a family is referred. Below is typically what to expect during the first visit:

Review of History

• This will include a review of the patient’s medical history, development, pregnancy/birth history, and family medical history. For additional information about family history, please refer to "What kind of information about the family history is important?"

Physical Examination and Assessment

• The geneticist will review all findings and discuss their clinical impression following the evaluation. Additional laboratory testing including blood or urine samples may be recommended (fasting labs are not typically required).

Patients with a KNOWN diagnosis:

• When a diagnosis can be made, you and your family will receive genetic counseling about the condition including what is known about the natural history, inheritance, recurrence risks, implications for other family members, and recommendations for management.

Patients with an UNKNOWN diagnosis:

• If a specific diagnosis is not apparent, you and your family will receive genetic counseling about the possible causes and given recommendations for further evaluation, and other testing. In some cases, your geneticist may recommend a follow-up visit for reassessment and further evaluation.

Other topics that may be discussed at your visit:

• Determining if others in the family could benefit from genetic testing
• Discussing reproductive options for the patient, his/her parents, or other relatives (for discussion of detailed reproductive options please seek "prenatal genetic counseling")
• Opportunities for research/clinical trials
• Available resources and/or support organizations

Should I do anything to prepare for the appointment?

• Yes - please complete the Patient History Form that will be sent in the mail with your appointment letter. It will be helpful to learn as much as you can about your family medical history for at least 3 generations (child, parent, and grandparent). You may either return the completed form before your appointment or bring it with you on the day of your appointment and give to your nurse. Please also ensure that your child's pediatrician and/or referring provider sends records to our office.

What kind of information about the family history is important?

• Information about other relatives with the same or similar features as the individual who is being referred for evaluation
• The causes and ages of death of deceased relatives
• Other health problems that have started at an unusually early age
• Relatives with birth defects, intellectual disability, autism, unusual stature (tall, short), seizures, and/or genetic disorders
• Anyone with unusual features and disorders that seem to be "running in the family"
• Your family’s ethnicity (i.e. African American, Native American, Italian, etc.)
• Marriages/relationships in family in which individuals are related by blood (i.e. parents are cousins)
• If other relatives have findings that are possibly related to the patient's problems, we may request medical records or photographs of those individuals to help with the evaluation

Are photographs needed?

• We may ask to take a photograph of your child to add to his/her medical chart
• A photograph of any relative who may have a genetically determined disorder can be helpful in considering a diagnosis. Since features can change over time, it can also be helpful to have photographs of the individual at different ages.

What happens after the visit?

• Following your visit, a summary of the appointment will be sent to the referring physician and to the primary care physician.

How will I learn the results of the genetic testing?

The return of genetic testing results will vary depending upon each case and the genetic testing that was completed. Results of genetic testing may take at least 4-6 weeks and sometimes as long as 8-10 weeks. Your geneticist and genetic counselor can provide you with a more accurate estimate at the time of your visit. You will be contacted either through mail or by phone once results are available and have been reviewed by your geneticist and genetic counselor.

• If the results are not diagnostic, (normal result) a letter will be sent to you, the primary care provider, and referring physician, summarizing the test results and plans for follow up.
• If the testing is diagnostic (shows a genetic change/variation), we will coordinate a return appointment with you for genetic counseling to discuss, in detail, what the results mean. Additional information summarizing the results and recommendations will be provided to you, the referring physician, and other health professionals as requested by the family.

If you are referred to the Metabolism clinic for a condition that involves dietary management, you will receive a mailing before your appointment that includes information about diet records. Please complete this paperwork as indicated and bring it with you to your appointment. Having these records available at your appointment will allow for necessary dietary changes to be made on a more timely basis, and will help our dietitians and physicians provide the best care for you and your family. Upon arrival for an appointment in the Metabolism Clinic, you will meet with a dietitian to discuss dietary management, recent medical history, and questions or concerns. These issues will be addressed with your biochemical geneticist (physician), who will meet with you following a discussion with the dietitian. If you are referred to the clinic and do not have dietary concerns, you will meet with a genetic counselor prior to seeing the physician.

Condition Specific Patient/Family Education

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