Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

Background: DNA testing of persons at risk for hereditary, degenerative neu rologic diseases is relatively new. Only anecdotal reports of such testing in familial Alzheimer disease (FAD) exist, and little is know about the per sonal and social impact of such testing. Methods: in a descriptive, observational study, individuals at 50% risk for autosomal dominant, early-onset FAD or frontotemporal dementia with parkin sonism linked to chromosome 17 underwent DNA testing for the genetic mutati ons previously identified in affected family members. Individuals were foll owed up for (1)/(2) to 3 years and were interviewed regarding attitudes tow ard the testing process and the impact of the results. Results: Twenty-one (8.4%) of 251 persons at risk for FAD or frontotemporal dementia requested genetic testing. The most common reasons for requesting testing were concern about early symptoms of dementia, financial or family planning, and relief from anxiety. Twelve individuals had positive DNA tes t results, and 6 of these had early symptoms of demential 8 had negative re sults; and I has not vet received results. Of 14 asymptomatic individuals c ompleting testing, 13 believed the testing was beneficial. Two persons repo rted moderate anxiety and 1 reported moderate depression. As expected, pers ons with negative test results had happier experiences overall, but even th ey had to deal with ongoing anxiety and depression. Thus far, there have be en no psychiatric hospitalizations, suicide attempts, or denials of insuran ce. Conclusions: Genetic testing in early-onset FAD and frontotemporal dementia can be completed successfully. Most individuals demonstrate effective copi ng skills and find the testing to be beneficial, but long-term effects rema in unknown.