More and more adults are being seen in Genetics as the genes responsible for adult-onset genetic conditions are found. In addition, as individuals diagnosed with genetic conditions in childhood reach adulthood, Genetics can provide the patient and his/her adult primary care provider with updated information.
What happens prior to a scheduled appointment?
The first contact is usually a phone call from a genetic counselor. This is a good time to clarify the reason for the consultation and review your questions and concerns. The genetic counselor asks about your personal and family medical history. Then, the counselor draws a family tree, known as a pedigree, which is a diagram showing both sides of your family for several generations. If there have been any family members who had similar medical problems, the counselor may want more specific information. Some genetic conditions are more common in certain ethnic groups, so knowing the ethnic background of both sides of your family is important. Medical records often need to be reviewed to verify and gather information. These records can be obtained by completing a medical release form. It can sometimes take several weeks to receive these records.
What to expect at an adult genetics appointment
Depending on the situation, an adult genetics appointment may be an in-person visit with a genetic counselor or a telephone consultation. Occasionally, there is a physical examination by a clinical geneticist.
For some genetic conditions that affect adults, diagnostic or pre-symptomatic genetic testing is available. This is generally in the form of a blood test. If testing is appropriate to consider, the genetic counselor discusses the advantages and disadvantages of the testing, the accuracy of the test, any associated risks, and the meaning and implications of the potential test results. Testing issues can be very complex. The goal of this discussion is for you to obtain enough information about testing to make a well-informed decision. The decision-making process is unique for each person. To help the process, counseling is done in a non-directive and supportive manner.
What to expect following an adult genetics appointment
After the visit, the genetic counselor may call to discuss test results, answer any additional questions, and identify any further needs. If more testing, procedures, or referrals were requested, the genetic counselor may coordinate these. The geneticist and genetic counselor both welcome calls after the appointment to address any unanswered questions or concerns. Questions can also be sent by secure e-mail using The Message Center located on the Kaiser Permanente website.
Last reviewed: January 9, 2013
Reviewed by: Kaiser Permanente Genetics