Presymptomatic genetic testing may be considered by patients who have a family history of Huntington’s disease who wish to know if they will definitely develop Huntington’s disease. The decision to obtain this information is often a difficult one and patients need to be psychologically prepared to receive this information. We work with each individual considering presymptomatic genetic testing to help determine whether or not they are prepared to undergo this process and received this information. Patients who are considering recent genetic testing are first interviewed by our social worker who obtains basic information about the patient, any clinical symptoms that may be worrisome for Huntington’s disease, and information about the patient’s family history of Huntington’s disease. Information about the presymptomatic testing protocol provided in significant detail to patients at this time.
The presymptomatic testing protocol ranges from 2-4 visits in the multidisciplinary Huntington’s disease clinic. All patient’s should bring a spouse, caregiver, or other support person to their visits as part of this testing protocol. On the first visit, patient’s undergo an interview with our clinical psychologist and meet with our genetic counselor to receive detailed education about Huntington’s disease and its genetics as well as how genetic testing is performed (with a simple blood test). Patients are also examined by Dr. Kumar to determine if they show any clinical signs of Huntington’s disease. During his first visit, patient’s receive substantial counseling about the pros and cons of genetic testing as well as the psychological and financial issues surrounding receiving such information.
If patients are thought to have be appropriately psychologically and otherwise prepared for genetic testing and have already been thoroughly educated about Huntington’s disease, blood may be drawn at this first visit for genetic testing. If patients require more education for psychological preparation, patients do not have their blood drawn and they return for additional evaluation and counseling the following month after having had some time to digest the information presented at the first visit and possibly evaluate the ramifications of obtaining genetic information on their own life (e.g. effects on ability to obtain life, disability, or long-term care insurance). Some patients decided not to proceed with genetic testing after receiving all the appropriate counseling and education. However, most patients elect to have their blood drawn for genetic testing on the first or second clinical visit. Once blood is drawn for genetic testing, the results of the test are discussed at the next visit in detail. The psychological ramifications and the clinical ramifications as well as a plan to go forward are considered in collaboration with the patient and his/her family. Most patients are seen for a post-test counseling session in the third or fourth clinic visit to address any outstanding questions or psychological or emotional issues that may have arisen in the month since they have been provided this important genetic information.