Medical Genetics Evaluation
Medical Genetics Evaluation at NYU School of Medicine
You,
or some member of your family, perhaps your child, have been referred for
a genetics evaluation or consultation. Perhaps you have initiated the consultation
yourself, without referral from a physician. You may have questions about what
will happen, who will see you, and what kinds of tests will be carried out.
You may not know what questions to ask and what kind of information you will
receive.
Why is someone referred for a genetics consultation?
There are many reasons for referral. Your child may have been born with a physical problem whose cause must be determined, or you may have been referred for possible prenatal diagnosis. Your child may not be developing either physically or mentally as we would expect for his/her age. You may have a condition that is suspected of being hereditary or you may have a history of hereditary disease in your family and want to know about the nature of condition, the possibility for treatment and the risk to family members. These are just a few of the many reasons. The goal of a medical genetics consultation is to identify the cause of the disorder in question, whether hereditary or not, and to initiate appropriate diagnostic and/or treatment regimens.
With whom will I/we be meeting?
Our genetics service utilizes a team approach. Usually you will see a medical geneticist and a genetic counselor. A medical geneticist is a physician who has completed a specialized training program in medical genetics and is board-certified or board-eligible in this specialty. A genetic counselor is a professional who has had graduate training in medical genetics and counseling and is also board-certified or board-eligible. Additional members of this team may include physicians who are specialists in other areas of medicine. 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?
If at all possible, we would like to have the appropriate medical records before you come. A genetic counselor will discuss with you on the telephone what records are needed. Although we prefer to have records before your first appointment, we will see you at the earliest available appointment time. If the records are unavailable at the time of this appointment, we will arrange to obtain them before our second meeting.
How many sessions are involved and how long are they?
There is no one answer to this question. Some 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, but we cannot always know how many will be necessary in order for us to provide comprehensive care. The initial session can be expected to last one to two hours and subsequent visits usually somewhat less. The entire consultation may be completed in a time period ranging from one day to several months.
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 blood analyses, X-rays, and 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/family. Results will be discussed fully with the patient/family. This will include recommendations about treatment and monitoring.
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 physician and 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 physician or counselor will help you consider the factors that influence your the decision-making. his is an important part of the genetic consultation.
Will I/we receive a report?
You will receive a detailed letter from the team summarizing the diagnostic evaluation. 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 Hospital, 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. Sometimes we are unable to determine exactly what the fee will be because we cannot predict exactly how much time will be required. 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 and would like to discuss it before coming to your first meeting, please feel free to contact us.
Molecular Genetics Program of NYU Medical Center
550 First Avenue, Room MSB 136,
New York, New York 10016
Telephone: (212)263-7621
Fax: (212)263-8172
