What to Expect at Your Appointment
During an appointment in the medical genetics clinic you will see a doctor, called a medical geneticist, and a genetic counselor. The goal of the appointment is to answer any questions you or your doctor have. We aim to identify the cause of the patient's symptoms or problem and help design treatment. If a diagnosis is found, we can often give you information about the condition and any medical treatment options. We can also share if other children or other people in your family will be likely to have the same condition in the future.
Because diagnosing a genetic condition can be complicated, you should plan to be at your appointment at least 90 minutes (or longer when testing is recommended).
You will first meet with a genetic counselor to review the pregnancy, medical and birth history of the patient. We would like you to fill out the new patient information form (PDF) and bring it to your visit. Before you come, we will review the medical records from appointments at Dartmouth-Hitchcock. If the patient has been seen by doctors at other hospitals, please bring important medical information from those appointments, such as test results and developmental evaluations.
Next, the genetic counselor will draw a family tree, called a pedigree. The genetic counselor will ask about developmental delays, autism, birth defects and any medical conditions that are in your family. Before the appointment you may want to ask your family about their medical history and if there is anyone with developmental disabilities, birth defects or a genetic condition.
Next you will see the medical geneticist who will ask more questions and perform a physical exam. Once the exam is done, the genetic counselor and medical geneticist may be able to tell you the reason for the patient's symptoms. Most of the time, laboratory tests (such as blood and urine testing) or other special evaluations may be needed to help determine a diagnosis. They will talk with you about testing options, possible treatment options and any additional follow-up recommendations. If you decide to have laboratory testing, we may have to check with your insurance company so another visit may be needed to collect the blood and urine.
If you have any questions before the appointment, you can call to speak with one of the genetic counselors at (603) 629-8355.