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Impact of DNA Testing for Early-Onset Familial Alzheimer Disease and Frontotemporal Dementia
Ellen J. Steinbart, RN, MA;
Corrine O. Smith, MS;
Parvoneh Poorkaj, PhD;
Thomas D. Bird, MD
Arch Neurol. 2001;58:1828-1831.
Background DNA testing of persons at risk for hereditary,
degenerative neurologic diseases is relatively new. Only anecdotal
reports of such testing in familial Alzheimer disease (FAD) exist, and
little is know about the personal 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 parkinsonism linked to chromosome 17 underwent DNA
testing for the genetic mutations previously identified in affected
family members. Individuals were followed up for  to 3 years
and were interviewed regarding attitudes toward 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 test results, and 6 of these had early
symptoms of dementia; 8 had negative results; and 1 has not yet
received results. Of 14 asymptomatic individuals completing testing, 13
believed the testing was beneficial. Two persons reported moderate
anxiety and 1 reported moderate depression. As expected, persons with
negative test results had happier experiences overall, but even they
had to deal with ongoing anxiety and depression. Thus far, there have
been no psychiatric hospitalizations, suicide attempts, or denials of
insurance.
Conclusions Genetic testing in early-onset FAD and
frontotemporal dementia can be completed successfully. Most individuals
demonstrate effective coping skills and find the testing to be
beneficial, but long-term effects remain unknown.
From the Departments of Neurology and Medicine,
University of Washington Medical School (Mss Steinbart and Smith and Dr
Bird), and the Geriatrics Research, Education, and Clinical Center (Drs
Poorkaj and Bird), VA Puget Sound Health Care System, Seattle,
Wash.
Corresponding author and reprints: Thomas D. Bird, MD, Geriatrics
Research 182, VA Medical Center, 1660 S Columbian Way, Seattle, WA
98108 (e-mail: tomnroz{at}u.washington.edu).
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