Genetic testing in families with hereditary nonpolyposis colon cancer

Carya Lerman, Chanita Hughes, Bruce J. Trock, Ronald E. Myers, David Main, Aba Bonney, Mohammad R. Abbaszadegan, Anne E. Harty, Barbara A. Franklin, Jane F. Lynch, Henry T. Lynch

Research output: Contribution to journalArticle

199 Citations (Scopus)

Abstract

Context: Genetic testing for hereditary nonpolyposis colon cancer (HNPCC) is available, but the rates of acceptance of testing or barriers to participation are not known. Objective: To investigate rates and predictors of utilization of genetic testing for HNPCC. Design: Cohort study conducted between July 1996 and July 1998. Setting: Hereditary nonpolyposis colon cancer family registry. Participants: Adult male and female members (n = 208) of 4 extended HNPCC families contacted for a baseline telephone interview. Interventions: Family education and individual genetic counseling. Main Outcome Measure: Participant acceptance of HNPCC test results. Results: Of the 208 family members, 90 (43%) received test results and 118 (57%) declined. Of 139 subjects (67%) who completed a baseline telephone interview, 84 (60%) received test results and 55 (40%) declined. Of the 84 subjects who received test results, 35 (42%) received information indicating that they had HNPCC-associated mutations and 49 (58%) that they did not. Test acceptors had higher education levels (odds ratio [OR], 3.74; 95% confidence interval [CI], 2.49-5.61) and were more likely to have participated in a previous genetic linkage study (OR, 4.30; 95% CI, 1.84-10.10). The presence of depression symptoms significantly reduced rates of HNPCC test use (OR, 0.34; 95% CI, 0.17-0.66). Although rates of test use were identical among men and women, the presence of depression symptoms resulted in a 4-fold decrease in test use among women (OR, 0.25; 95% CI, 0.08-0.80) and a smaller, nonsignificant reduction among men (OR, 0.49; 95% CI, 0.19-1.27). Conclusions: Despite having significantly elevated risks of developing colon cancer, a relatively small proportion of HNPCC family members are likely to use genetic testing. Barriers to test acceptance may include less formal education and the presence of depression symptoms, especially among women. Additional research is needed to generalize these findings to different clinical settings and racially diverse populations.

Original languageEnglish
Pages (from-to)1618-1622
Number of pages5
JournalJAMA - Journal of the American Medical Association
Volume281
Issue number17
DOIs
StatePublished - May 5 1999

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Hereditary Nonpolyposis Colorectal Neoplasms
Genetic Testing
Odds Ratio
Confidence Intervals
Depression
Education
Interviews
Genetic Linkage
Genetic Counseling
Colonic Neoplasms
Registries
Cohort Studies
Outcome Assessment (Health Care)
Mutation

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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Genetic testing in families with hereditary nonpolyposis colon cancer. / Lerman, Carya; Hughes, Chanita; Trock, Bruce J.; Myers, Ronald E.; Main, David; Bonney, Aba; Abbaszadegan, Mohammad R.; Harty, Anne E.; Franklin, Barbara A.; Lynch, Jane F.; Lynch, Henry T.

In: JAMA - Journal of the American Medical Association, Vol. 281, No. 17, 05.05.1999, p. 1618-1622.

Research output: Contribution to journalArticle

Lerman, C, Hughes, C, Trock, BJ, Myers, RE, Main, D, Bonney, A, Abbaszadegan, MR, Harty, AE, Franklin, BA, Lynch, JF & Lynch, HT 1999, 'Genetic testing in families with hereditary nonpolyposis colon cancer', JAMA - Journal of the American Medical Association, vol. 281, no. 17, pp. 1618-1622. https://doi.org/10.1001/jama.281.17.1618
Lerman, Carya ; Hughes, Chanita ; Trock, Bruce J. ; Myers, Ronald E. ; Main, David ; Bonney, Aba ; Abbaszadegan, Mohammad R. ; Harty, Anne E. ; Franklin, Barbara A. ; Lynch, Jane F. ; Lynch, Henry T. / Genetic testing in families with hereditary nonpolyposis colon cancer. In: JAMA - Journal of the American Medical Association. 1999 ; Vol. 281, No. 17. pp. 1618-1622.
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title = "Genetic testing in families with hereditary nonpolyposis colon cancer",
abstract = "Context: Genetic testing for hereditary nonpolyposis colon cancer (HNPCC) is available, but the rates of acceptance of testing or barriers to participation are not known. Objective: To investigate rates and predictors of utilization of genetic testing for HNPCC. Design: Cohort study conducted between July 1996 and July 1998. Setting: Hereditary nonpolyposis colon cancer family registry. Participants: Adult male and female members (n = 208) of 4 extended HNPCC families contacted for a baseline telephone interview. Interventions: Family education and individual genetic counseling. Main Outcome Measure: Participant acceptance of HNPCC test results. Results: Of the 208 family members, 90 (43{\%}) received test results and 118 (57{\%}) declined. Of 139 subjects (67{\%}) who completed a baseline telephone interview, 84 (60{\%}) received test results and 55 (40{\%}) declined. Of the 84 subjects who received test results, 35 (42{\%}) received information indicating that they had HNPCC-associated mutations and 49 (58{\%}) that they did not. Test acceptors had higher education levels (odds ratio [OR], 3.74; 95{\%} confidence interval [CI], 2.49-5.61) and were more likely to have participated in a previous genetic linkage study (OR, 4.30; 95{\%} CI, 1.84-10.10). The presence of depression symptoms significantly reduced rates of HNPCC test use (OR, 0.34; 95{\%} CI, 0.17-0.66). Although rates of test use were identical among men and women, the presence of depression symptoms resulted in a 4-fold decrease in test use among women (OR, 0.25; 95{\%} CI, 0.08-0.80) and a smaller, nonsignificant reduction among men (OR, 0.49; 95{\%} CI, 0.19-1.27). Conclusions: Despite having significantly elevated risks of developing colon cancer, a relatively small proportion of HNPCC family members are likely to use genetic testing. Barriers to test acceptance may include less formal education and the presence of depression symptoms, especially among women. Additional research is needed to generalize these findings to different clinical settings and racially diverse populations.",
author = "Carya Lerman and Chanita Hughes and Trock, {Bruce J.} and Myers, {Ronald E.} and David Main and Aba Bonney and Abbaszadegan, {Mohammad R.} and Harty, {Anne E.} and Franklin, {Barbara A.} and Lynch, {Jane F.} and Lynch, {Henry T.}",
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AU - Lerman, Carya

AU - Hughes, Chanita

AU - Trock, Bruce J.

AU - Myers, Ronald E.

AU - Main, David

AU - Bonney, Aba

AU - Abbaszadegan, Mohammad R.

AU - Harty, Anne E.

AU - Franklin, Barbara A.

AU - Lynch, Jane F.

AU - Lynch, Henry T.

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N2 - Context: Genetic testing for hereditary nonpolyposis colon cancer (HNPCC) is available, but the rates of acceptance of testing or barriers to participation are not known. Objective: To investigate rates and predictors of utilization of genetic testing for HNPCC. Design: Cohort study conducted between July 1996 and July 1998. Setting: Hereditary nonpolyposis colon cancer family registry. Participants: Adult male and female members (n = 208) of 4 extended HNPCC families contacted for a baseline telephone interview. Interventions: Family education and individual genetic counseling. Main Outcome Measure: Participant acceptance of HNPCC test results. Results: Of the 208 family members, 90 (43%) received test results and 118 (57%) declined. Of 139 subjects (67%) who completed a baseline telephone interview, 84 (60%) received test results and 55 (40%) declined. Of the 84 subjects who received test results, 35 (42%) received information indicating that they had HNPCC-associated mutations and 49 (58%) that they did not. Test acceptors had higher education levels (odds ratio [OR], 3.74; 95% confidence interval [CI], 2.49-5.61) and were more likely to have participated in a previous genetic linkage study (OR, 4.30; 95% CI, 1.84-10.10). The presence of depression symptoms significantly reduced rates of HNPCC test use (OR, 0.34; 95% CI, 0.17-0.66). Although rates of test use were identical among men and women, the presence of depression symptoms resulted in a 4-fold decrease in test use among women (OR, 0.25; 95% CI, 0.08-0.80) and a smaller, nonsignificant reduction among men (OR, 0.49; 95% CI, 0.19-1.27). Conclusions: Despite having significantly elevated risks of developing colon cancer, a relatively small proportion of HNPCC family members are likely to use genetic testing. Barriers to test acceptance may include less formal education and the presence of depression symptoms, especially among women. Additional research is needed to generalize these findings to different clinical settings and racially diverse populations.

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