Before you make an appointment for genetic testing, here are some things you should know.
1. What happens at the genetic screening session? A family history will be obtained and a discussion of genetic inheritance patterns and mutations (genetic changes) will take place. The genetic counselor will discuss diseases that result from mutations that are prevalent in the Jewish population, diseases that are equally prevalent in the Jewish and non-Jewish population (e.g., SMA, Fragile X), and diseases that may be relevant for you based on family history. Genetic testing will be explained and offered.
2. Why screen? Your chance of being a carrier for one of these diseases is around 1 in 3. About 1 in 100 couples are “carrier couples.” There are several reproductive options available to prevent the birth of a baby with any one of these genetic diseases. Genetic counseling is recommended in such cases.
3. What is the turnaround time for results? About 2-3 weeks. We do not rush samples.
4. Which member of a couple should be tested first? The person who is more likely to be a carrier should be tested first. Examples include someone who is completely of Ashkenazi Jewish descent, someone who has a known family history of one of the diseases on the panel, or someone who has a family member who is a known carrier. If that person turns out to be a carrier for one of the diseases, we will offer testing to the partner.
If only one member of a couple has insurance, then he or she should be tested first. If both members require subsidized screening, then we probably will choose one of you to be screened. Again, if that person is a carrier, we will offer subsidized testing to the partner.
5. Where are we located? Our address is 1695 Eastchester Road, Suite 301, Bronx, NY 10461 (down the block from Einstein Medical School and hospital). There is a parking lot in the building. If you take public transportation, you can take the 2 train to East 180 Street and then the 21 bus or you can take the 6 train to Westchester Square and then the 21 or 31 bus.
6. Why do I need a “referring doctor” in order to set up my appointment? Since Genetics is a referral specialty, everyone who comes to our office needs to be referred by an OB/GYN or Primary Care Physician. In order to set up an appointment for you, we need to have the name of a doctor who you feel comfortable getting copies of your results. Even if you are “self referred” and a doctor did not send you for genetic testing, we cannot set up an appointment for you without this information.