This study explored why adult offspring of individuals with Alzheimer's disease (AD) sought genetic susceptibility testing for AD. Participants (N = 60) were a subset of subjects from the first randomized controlled clinical trial to offer such testing. Qualitative analysis revealed two central constructs: altruism and learning. Planning for the future, hoping to prevent AD, and need to know were concepts that explained the value of learning. These results add important contextual information into why people might seek information on their genetic risk for a severe neurodegenerative disease for which there are, as yet, no preventative treatments. As genetic susceptibility testing for numerous other diseases enters clinical medicine, these findings can enhance the knowledge and sensitivity of researchers and clinicians when they are asked by participants or patients whether they should be tested.
Zallen DT: Does It Run in the Family? A Consumer's Guide to DNA Testing for Genetic Disorders. New Brunswick, NJ: Rutgers University Press, 1997.
2.
Nee LE, Tierney MC, Lippa CF: Genetic aspects of Alzheimer's disease, Pick's disease, and other dementias. Am J Alzheimer Dis Other Dement. 2004; 19(4): 219-224.
3.
Pericak-Vance MA, Bass MP, Yamaoka LH, et al.: Complete genomic screen in late-onset familial Alzheimer disease. JAMA. 1997; 278(15): 1237-1241.
4.
Roses AD: Genetic testing for Alzheimer disease: Practical and ethical issues. Arch Neurol. 1997; 54: 1226-1229.
5.
Farrer LA, Cupples LA, van Duijn CM, et al.: Apolipoprotein E genotype in patients with Alzheimer's disease: Implications for the risk of dementia among relatives. Ann Neurol. 1995; 38(5): 797-808.
6.
Farrer LA, Cupples L, Haines JL, et al.: Effects of age, sex and ethnicity on the association between apolipoprotein E genotype and Alzheimer Disease: A meta-analysis. JAMA. 1997; 278(16): 1349-1356.
7.
Farrer LA: Suicide and attempted suicide in Huntington's disease: Implications for preclinical testing of persons at risk. Am J Med Genet. 1986; 24: 305-311.
8.
Quaid KA, Morris M: Reluctance to undergo predictive testing: The case of Huntington disease. Am J Med Genet. 1993; 45(1): 41-45.
9.
Burgess MM: Ethical issues in genetic testing for Alzheimer's disease: Lessons from Huntington's disease. Alzheimer Dis Assoc Disord. 1994; 8(2): 71-78.
10.
Williams JK, Schutte DL, Evers CA, et al.: Adults seeking presymptomatic gene testing for Huntington disease. Image J Nurs Sch. 1999; 31(2): 109-114.
11.
Lerman C, Daly M, Masny A, et al.: Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol. 1994; 12(4): 843-450.
12.
Biesecker BB, Ishibe N, Hadley DW, et al.: Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. Am J Med Genet. 2000; 93: 257-263.
13.
Tercyak KP, Demarco TA, Mars BD, et al.: Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: Psychological aspects. Am J Med Genet A. 2004; 131(1): 36-41.
14.
Brodaty H, Conneally M, Gauthier S, et al.: Consensus statement on predictive testing for Alzheimer disease. Alzheimer Dis Assoc Disord. 1995; 9(4): 182-187.
15.
Farrer LA, Brin M, Elsas L. Statement on use of apolipoprotein E testing for Alzheimer disease. JAMA. 1995; 247: 1627-1629.
16.
Post SG, Whitehouse PJ, Binstock RH, et al.: The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. JAMA. 1997; 277(10): 832-836.
17.
Relkin NR, Kwon YJ, Tsai J, et al.: The National Institute on Aging/Alzheimer's Association recommendations on the application of apolipoprotein E genotyping to Alzheimer's disease. Ann NY Acad Sci. 1996; 802: 149-176.
18.
Relkin NR: Apolipoprotein E genotyping in Alzheimer's disease. National Institute on Aging/Alzheimer's Association Working Group. Lancet. 1996; 347(9008): 1091-1095.
19.
Green RC: Risk assessment for Alzheimer's Disease with genetic susceptibility testing: Has the moment arrived?Alzheimer Care Q. 2002; Summer: 208-214.
20.
Cutler SJ, Hodgson LG: To test or not to test: Interest in genetic testing for Alzheimer's disease among middle-aged adults. Am J Alzheimer Dis Other Dement. 2003; 18(1): 9-20.
21.
Roberts JS: Anticipating response to predictive genetic testing for Alzheimer's disease: A survey of first-degree relatives. Gerontologist. 2000; 40: 43-52.
22.
Roberts JS, LaRusse SA, Katzen H, et al.: Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer Dis Assoc Disord. 2003; 17(2): 86-93.
23.
Roberts JS, Barber M, Brown TM, et al.: Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial. Genet Med. 2004; 6(4): 197-203.
24.
Glaser BG, Strauss AL: The Discovery of Grounded Theory: Strategies for Qualitative Research. Chicago: Aldine Press, 1967.
25.
Melia KM: Rediscovering Glaser. Qual Health Res. 1996; 6: 368-378.
26.
Rempusheski VF: Qualitative research and Alzheimer disease. Alzheimer Dis Assoc Disord. 1999; 13(Suppl. 1): S45-S49.
Biesecker BB, Peters KF: Process studies in genetic counseling: Peering into the black box. Am J Med Genet. 2001; 106(3): 191-198.
29.
Miles MB, Huberman AM: Qualitative Data Analysis, 2nd ed.Thousand Oaks, CA: Sage Publications, 1994.
30.
Kearney MH: Levels and applications of qualitative research evidence. Res Nurs Health. 2001; 24(2): 145-153.
31.
Krantz DS, Baum A, Wideman MV: Assessment of preferences for self-treatment and information in health care. J Pers Soc Psych.1980; 39: 977-990.
32.
Sandelowski M: Focus on qualitative methods: Time and qualitative research. Res Nurs Health. 1999; 22: 79-87.
33.
Bachman DL, Green RC, Benke KS, et al.: Comparison of Alzheimer's disease risk factors in white and African American families. Neurology. 2003; 60: 1372-1374.
34.
Aggarwal NT, Wilson R, Bienias JL, et al.: Risk factors for conversion from mild cognitive impairment to Alzheimer's disease. Neurobiol Aging. 2004; 25(S2): S392-S392.
35.
Petersen RC, Thomas RG, Grundman M, et al.: Vitamin E and Donepezil for the treatment of mild cognitive impairment. N Engl J Med. 2005; 344(15): 1257-1267.
