Disclosure of APOE Genotype for Risk of Alzheimer's Disease

被引：350

作者：

Green, Robert C. ^{[1
,2
,3
]}

Roberts, J. Scott ^{[4
]}

Cupples, L. Adrienne ^{[2
]}

Relkin, Norman R. ^{[5
]}

Whitehouse, Peter J. ^{[6
]}

Brown, Tamsen ^{[1
]}

Eckert, Susan LaRusse ^{[7
]}

Butson, Melissa ^{[6
]}

Sadovnick, A. Dessa ^{[8
,9
]}

Quaid, Kimberly A. ^{[10
]}

Chen, Clara ^{[2
]}

Cook-Deegan, Robert ^{[11
]}

Farrer, Lindsay A. ^{[1
,2
]}

机构：

[1] Boston Univ, Sch Med, Boston, MA 02118 USA

[2] Boston Univ, Sch Publ Hlth, Boston, MA USA

[3] Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA

[4] Univ Michigan, Sch Publ Hlth, Ann Arbor, MI 48109 USA

[5] Weill Cornell Med Coll, New York, NY USA

[6] Case Western Reserve Univ, Sch Med, Cleveland, OH 44106 USA

[7] Columbia Univ, Sch Med, New York, NY USA

[8] Univ British Columbia, Vancouver Gen Hosp, Vancouver, BC V5Z 1M9, Canada

[9] Hlth Sci Ctr, Vancouver, BC, Canada

[10] Indiana Univ, Sch Med, Indianapolis, IN USA

[11] Duke Univ, Durham, NC USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2009年 / 361卷 / 03期

关键词：

APOLIPOPROTEIN-E; EVENT SCALE; PSYCHOLOGIC DISTRESS; 1ST-DEGREE RELATIVES; AFRICAN-AMERICANS; IMPACT; CANCER; ATTITUDES; MEDICINE; WHITES;

D O I：

10.1056/NEJMoa0809578

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background The apolipoprotein E (APOE) genotype provides information on the risk of Alzheimer's disease, but the genotyping of patients and their family members has been discouraged. We examined the effect of genotype disclosure in a prospective, randomized, controlled trial. Methods We randomly assigned 162 asymptomatic adults who had a parent with Alzheimer's disease to receive the results of their own APOE genotyping (disclosure group) or not to receive such results (nondisclosure group). We measured symptoms of anxiety, depression, and test-related distress 6 weeks, 6 months, and 1 year after disclosure or nondisclosure. Results There were no significant differences between the two groups in changes in time-averaged measures of anxiety (4.5 in the disclosure group and 4.4 in the nondisclosure group, P = 0.84), depression (8.8 and 8.7, respectively; P = 0.98), or test-related distress (6.9 and 7.5, respectively; P = 0.61). Secondary comparisons between the nondisclosure group and a disclosure subgroup of subjects carrying the APOE epsilon 4 allele (which is associated with increased risk) also revealed no significant differences. However, the epsilon 4-negative subgroup had a significantly lower level of test-related distress than did the epsilon 4-positive subgroup (P = 0.01). Subjects with clinically meaningful changes in psychological outcomes were distributed evenly among the nondisclosure group and the epsilon 4-positive and epsilon 4-negative subgroups. Baseline scores for anxiety and depression were strongly associated with post-disclosure scores of these measures (P<0.001 for both comparisons). Conclusions The disclosure of APOE genotyping results to adult children of patients with Alzheimer's disease did not result in significant short-term psychological risks. Test-related distress was reduced among those who learned that they were APOE epsilon 4-negative. Persons with high levels of emotional distress before undergoing genetic testing were more likely to have emotional difficulties after disclosure. (ClinicalTrials.gov number, NCT00571025.)

引用

页码：245 / 254

页数：10

共 41 条

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