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Motivations and psychosocial impact of genetic testing for HNPCC.
Am J Med Genet. 2001 Sep 15; 103(1):9-15.AJ

Abstract

A type of hereditary colorectal cancer (CRC) known as hereditary nonpolyposis colorectal cancer (HNPCC) is associated with MLHI and MSH2 gene mutations. This study consists of a pilot, cross-sectional study of 50 individuals who were engaged in the genetic testing process for HNPCC. The study investigated the motivations and attitudes around genetic testing and current psychosocial functioning through the use of standardized measures, as well as obtained information on disclosure patterns associated with test results. The mean age of the sample was 44.3 years. (SD = 15.0). Twenty-three individuals were identified as "carriers" (13 had a previous history of CRC), seven were "non-carriers" and 20 individuals were still awaiting test results. The primary motivations for participating in genetic testing were similar to previous reports and included: wanting to know if more screening tests were needed, obtaining information about the risk for offspring and increasing certainty around their own risk. The psychosocial scores demonstrated that a subgroup of individuals exhibited distress, with greater distress for those individuals awaiting results or testing positive. There was a high level of satisfaction associated with the experience of testing. Individuals in this study tended to disclose their test results to a variety of family and non-family members. Disclosure was primarily associated with positive experiences however, some individuals reported regret around disclosure of their results. These preliminary findings should be further explored in a larger prospective study design over multiple time points.

Authors+Show Affiliations

Department of Psychiatry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. mesplen@mtsinai.on.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11562928

Citation

Esplen, M J., et al. "Motivations and Psychosocial Impact of Genetic Testing for HNPCC." American Journal of Medical Genetics, vol. 103, no. 1, 2001, pp. 9-15.
Esplen MJ, Madlensky L, Butler K, et al. Motivations and psychosocial impact of genetic testing for HNPCC. Am J Med Genet. 2001;103(1):9-15.
Esplen, M. J., Madlensky, L., Butler, K., McKinnon, W., Bapat, B., Wong, J., Aronson, M., & Gallinger, S. (2001). Motivations and psychosocial impact of genetic testing for HNPCC. American Journal of Medical Genetics, 103(1), 9-15.
Esplen MJ, et al. Motivations and Psychosocial Impact of Genetic Testing for HNPCC. Am J Med Genet. 2001 Sep 15;103(1):9-15. PubMed PMID: 11562928.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Motivations and psychosocial impact of genetic testing for HNPCC. AU - Esplen,M J, AU - Madlensky,L, AU - Butler,K, AU - McKinnon,W, AU - Bapat,B, AU - Wong,J, AU - Aronson,M, AU - Gallinger,S, PY - 2001/9/20/pubmed PY - 2001/10/5/medline PY - 2001/9/20/entrez SP - 9 EP - 15 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 103 IS - 1 N2 - A type of hereditary colorectal cancer (CRC) known as hereditary nonpolyposis colorectal cancer (HNPCC) is associated with MLHI and MSH2 gene mutations. This study consists of a pilot, cross-sectional study of 50 individuals who were engaged in the genetic testing process for HNPCC. The study investigated the motivations and attitudes around genetic testing and current psychosocial functioning through the use of standardized measures, as well as obtained information on disclosure patterns associated with test results. The mean age of the sample was 44.3 years. (SD = 15.0). Twenty-three individuals were identified as "carriers" (13 had a previous history of CRC), seven were "non-carriers" and 20 individuals were still awaiting test results. The primary motivations for participating in genetic testing were similar to previous reports and included: wanting to know if more screening tests were needed, obtaining information about the risk for offspring and increasing certainty around their own risk. The psychosocial scores demonstrated that a subgroup of individuals exhibited distress, with greater distress for those individuals awaiting results or testing positive. There was a high level of satisfaction associated with the experience of testing. Individuals in this study tended to disclose their test results to a variety of family and non-family members. Disclosure was primarily associated with positive experiences however, some individuals reported regret around disclosure of their results. These preliminary findings should be further explored in a larger prospective study design over multiple time points. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11562928/Motivations_and_psychosocial_impact_of_genetic_testing_for_HNPCC_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2001&volume=103&issue=1&spage=9 DB - PRIME DP - Unbound Medicine ER -