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The GenRISK Adult Genetics Program offers genetic risk assessment, diagnosis, testing and counseling. Our services cover many diseases, such as cancer, heart disease, diabetes, hemochromatosis (a disorder of excess iron absorption) and stroke. We can see if your personal and/or your family's history make it more likely that you or your children will develop a particular illness or condition. If so, we can create a program to manage your risks and possibly prevent the disease (or diseases).
A typical consultation is described below. We use a patient-oriented, multidisciplinary approach. We bring together preventive medicine with clinical genetics and counseling.
- Making an Appointment
- Constructing Your Family Tree
- Gathering Medical Records
- Genetic Consultation/New Patient Visit
- Follow-up Consultation
Making an Appointment
We begin by obtaining information about you and why you are coming to see us. You will be asked the reason for your referral or self-referral and sent a packet which will contain various forms to be completed prior to being given an appointment. We may ask to access medical records for you or a familiy member before seeing you. This packet contains personal medical history forms, family history forms and releases of information for you, and other family members. It is in your best interest to complete these forms so that we may be able to schedule an appointment for you. Or fax you this packet, together with some additional information.
Constructing Your Family Tree
We need as much information as possible about your family health history. This means information about your parents, brothers, sisters, children, grandparents, aunts, uncles, great aunts, great uncles, nieces, nephews and cousins. A complete family history helps pinpoint your risks. It also helps us design a plan to prevent or manage the disease you may be susceptible to. If you have gaps in what you know, please ask your relatives for more facts while you are completing the family history form. A checklist about what to know about your family history wil be included in your packet.
Gathering Medical Records
Records of your own and your family's medical history are valuable in estimating your risk of developing a condition. If you need help getting these records, our team can help. In some cases, you may need a Release of Information request form* signed before the records will be given to you.
If a relative is dead and there are no medical records, a death certificate may be helpful. You can learn how to get death certificates at vitalrec.com. Death certificates can be requested by the general public and do not require consent from the next-of-kin. Death certificates can often be ordered by mail, fax or the Internet for a small fee. You can try the Social Security Death index if you don't know your relative's date of birth or death or the county where he or she last lived. This index can be found at ancestry.com.
Genetic Consultation/New Patient Visit
At your apointment, you will need to complete some registration and insurance/payment information paperwork. Measurements, such as blood pressure, height and weight, may be taken. You will then meet with a genetic counselor for about thirty to forty-five minutes. S/he will discuss the personal and family health history. You will also discuss general genetic concepts as they apply to your case, as well as genetic tests and how to better define your genetic risk and diagnosis.
You will then meet with the physician, who will review your personal medical history. This will cover any conditions you have, drugs you use to treat them, screening and prevention actions you may have taken and your lifestyle, including diet and exercise. You will also discuss how to best manage or prevent the disease you may be at risk for and will discuss how genetic test results might change the suggestions for management and prevention. S/he may also perform a physical exam to check for signs or symptoms of a particular inherited disorder.
If you decide to have genetic testing, your blood will be drawn by our clinical assistant or the doctor. Test results are usually ready at various times, but some rarer genetic syndromes require more complicated tests, which can take several months. At your first visit, you will be scheduled for a follow-up appointment to get your test results in person. It is standard of care and our striclty enforced policy to discuss all genetic test results in person and not on the telephone, regardless of what they may be. Please note that for cardiovascular disease testing, you must fast 12 to 14 hours before your appointment.
The entire process, from check in to check out, takes two to three hours.
After your first visit, a consultation note will be issued containing the information you were given during your appointment. This report will be sent to your referring doctors. You will have an opportunity who, if anyone, should receive a copy of this consultation note. You may also request that you receive a copy of this note.
At your follow-up appointment, your genetic test results will be disclosed by the genetic counselor and/or physician. Your results will be discussed in the context of your family history. We will also talk about how to manage your risks and maintain your health in view of your test results.
A second consultation note will be issued and sent to the physicians you designated at your first visit.