WESTPORT, CT (Reuters Health) – Many patients cope well with DNA testing for early onset familial Alzheimer disease and frontotemporal dementia, and find the test beneficial, according to a report in the November issue of the Archives of Neurology.
Dr. Thomas D. Bird from the Veterans Affairs Medical Center in Seattle and colleagues collected data on 251 individuals who were at a 50% risk for early onset familial Alzheimer disease and frontotemporal dementia with parkinsonism linked to chromosome 17.
Of these patients, 21 requested and underwent genetic testing. These patients were followed for from 6 months to 3.5 years. The most common reasons for testing expressed by these patients were concerns about the early symptoms of dementia, financial or family planning and relief from anxiety, the researchers report.
Among the 21 patients, 12 had positive DNA tests and six of these patients had early symptoms of dementia. Eight patients had negative DNA results and one had not yet received the results, Dr. Bird's team notes.
Patients with positive results were disappointed, but appeared to cope with the results. Many felt that knowing was important in making family and other life decisions. Patients whose results were negative had a happier experience as expected, although they too had to cope with ongoing anxiety and depression, the investigators found.
Thirteen of the 14 asymptomatic patients thought that the testing was beneficial. Two patients had moderate anxiety and one patient reported moderate depression. So far none of these asymptomatic patients has been admitted to a psychiatric hospital, attempted suicide or been denied health insurance, the researchers report.
The test results affected the marriage plans of three individuals, and family planning of three other, the investigators note.
The researchers found that they could make five observations from their limited study.
First very few at-risk individuals want to be tested. Second, testing is of benefit in early diagnosis. Third, those with negative results experience relief and have a positive attitude toward testing. Fourth, patients with positive results are able to cope and get on with their lives, although it does have an impact on their lives; and fifth, genetic testing can result in ambivalence with the patient not wanting to know the results.
"The testing has benefits and risks for persons with positive or negative results," Dr. Bird and colleagues say, "and further longitudinal studies are required to fully appreciate the long-term effects of genetic testing."
Arch Neurol 2001;58:1828-1831.
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