You have been referred for reproductive genetic counseling. You may have questions about what will happen, whom you will see, and what kinds of tests will be carried out.
Why is someone referred for reproductive genetic counseling?
There are many reasons for referral. You may be at increased risk for having a fetus with physical or mental abnormalities based on your age, personal or family history, abnormal test result or exposure to drugs or toxins (teratogens). Abnormalities may also have been identified in your fetus by ultrasound. You might have a history of infertility or recurrent pregnancy losses. The goal of a reproductive genetic consultation is to aid in identifying a cause for an observed abnormality and to provide a more precise estimate for your chances to conceive a normal baby. This might involve genetic testing.
With whom will I/we be meeting?
Usually you will see a genetic counselor, who is a professional who has had graduate training in medical genetics and counseling and is also board-certified or board-eligible. She will discuss your case with a medical geneticist, who is a physician who has completed a specialized training program and is board-certified or board-eligible in this specialty. The medical geneticist and possibly physicians who are specialists in other areas of medicine may also see you. Because this is a teaching hospital, there are sometimes, but not always, one or two medical/graduate students or other trainees present.
What kind of information do we need from you?
It is important for you to come prepared to talk with us about your personal medical and family history. We may also want to review the medical records from your referring physician. In that case, you will be asked to sign a consent form for us to obtain these records.
How many sessions are involved and how long are they?
Usually these consultations can be completed in one session. Some may require two or more. The number of sessions will depend on the type of problem/condition and the complexity of the evaluation. We will make an effort to estimate the number of visits. The initial session can be expected to last one to two hours and subsequent visits usually somewhat less.
What will happen during the sessions?
We will obtain a detailed family health and medical history and, if appropriate, perform a physical examination of the individual for whom the consultation is sought. For some patients it may be important to examine other family members. We will recommend appropriate tests such as amniocentesis, chorionic villus sampling, sonography, blood analyses, and possibly consultation with other specialists to assist in the evaluation. Not all patients require tests as part of their evaluation. Prior to performing a test or consulting with another physician, we will explain the reason and the implications to the patient and family.
What kind of information can we expect to learn?
Our goal is to provide you with an exact diagnosis. We will share with you whatever is known about the condition, the cause and/or pattern of inheritance, the course of the condition, treatment, preventive measures, testing, support groups, appropriate educational opportunities, etc. We may provide you with ongoing care or refer you to another specialist for care. Although every effort will be made to come to a specific diagnostic conclusion for each patient/family it is, unfortunately, not always possible.
What else can we expect?
You can expect to talk with an empathic genetic counselor who will provide a non-judgmental atmosphere in which you may feel free to discuss anything that relates to your experience of having a child with a specific condition, your concern about having some hereditary condition yourself, or anything else that may help you feel more comfortable with your particular situation. Sometimes additional sessions are planned for the counseling aspects of the consultation because the situations that bring individuals/families to us are usually upsetting and anxiety-provoking and affect many members of the family.
Will the physician/counselor tell me what the best thing is to do in my/our situation?
While we will make specific recommendations about your medical care, we expect that you will make reproductive or other decisions that are appropriate for you, given your cultural background and personal experience. The genetic counselor will help you consider the factors that influence your the decision-making. This is an important part of the genetic consultation.
Will I/we receive a report?
If an abnormality is found, you will receive a detailed letter team summarizing the findings. We will also send a report to any doctor/s that you choose. Should you desire additional printed information, we will identify materials that may be useful.
How will I/we be charged?
With the exception of indigent patients, patients who are covered by Medicaid, and those patients whom we see at Bellevue and NYU Downtown Hospitals, patients are charged a fee for service. These fees differ among individual patients/families depending on the complexity of the evaluation and how many sessions may be required to complete the consultation. Tests that are recommended will be charged separately. If samples are to be sent to other laboratories, there will be a fee for the preparation of the samples and Federal Express or other carrier charges. If you do not have health insurance or are unable to pay for these services/tests, we will try to work out an alternative arrangement with you. Please talk with us about this before coming to the appointment. We will make every effort to care for you no matter what your ability to pay.
Do you share my/our diagnosis with others than those I designate?
We can answer that question with a resounding "Never"! Your records and diagnosis are not released to anyone or any institution without your written consent. We will not discuss your evaluation or results with any individual or group unless you give us specific permission in writing to do so. That includes other family members, professionals from other institutions and insurance companies.
If you have any questions about any of this information or would like to schedule an appointment, please feel free to contact us.
Human Genetics Program
550 First Avenue, Room MSB 136,
New York, New York 10016
Telephone: (212)263-5746
Fax: (212)263-7590