title: Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.
abstract: BACKGROUND
  Genetic testing to refine cancer risk is available. However, little is known about factors affecting the uptake of testing for the most common hereditary colon cancer, hereditary nonpolyposis colorectal cancer. This study investigated attitudes, intentions, and uptake of genetic testing within newly identified families with hereditary nonpolyposis colorectal cancer.
  
  
  METHODS
  Cohort study conducted at the National Institutes of Health between April 15, 1996, and November 20, 1999. Data were collected through questionnaires before semistructured education sessions, individual counseling sessions, and the offer of genetic testing.
  
  
  RESULTS
  Of the 111 eligible first-degree relatives, 51% chose to participate in education and individual counseling sessions. Participation was associated with greater numbers of first-degree relatives with cancer; no association was found between participation and personal history of cancer. Before education and individual counseling sessions, 64% of participants had heard little about genetic testing for cancers; however, most (97%) stated intentions to pursue testing. Fifty-one percent identified learning about their children's risks as the most important reason to consider testing. Thirty-nine percent identified the potential effect on their health insurance as the most important reason to not undergo testing. Of the 111 eligible first-degree relatives, 51% chose to undergo genetic testing. Participants' intentions to pursue genetic testing were significantly affected by concerns regarding the ability to handle the emotional aspects of testing and the psychosocial effect on family members.
  
  
  CONCLUSIONS
  Genetic counseling and testing offers the potential to focus cancer screening resources in individuals truly at increased risk, thereby reducing mortality and morbidity. Fears of discrimination and concerns about psychological and psychosocial issues may present barriers to the use of current cancer prevention strategies, including genetic counseling and testing.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, MSC 1852, Building 10, Room 10C103, Bethesda, MD 20892-1852, USA. dhadley@nhgri.nih.gov
authors.forename: Donald W
authors.initials: DW
authors.lastname: Hadley
authors.forename: Jean
authors.initials: J
authors.lastname: Jenkins
authors.forename: Eileen
authors.initials: E
authors.lastname: Dimond
authors.forename: Kenneth
authors.initials: K
authors.lastname: Nakahara
authors.forename: Liam
authors.initials: L
authors.lastname: Grogan
authors.forename: David J
authors.initials: DJ
authors.lastname: Liewehr
authors.forename: Seth M
authors.initials: SM
authors.lastname: Steinberg
authors.forename: Ilan
authors.initials: I
authors.lastname: Kirsch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000523:psychology; D005190:Family; D005260:Female; D005817:Genetic Counseling; D005821:Genetic Techniques / Q000523:psychology / Q000706:statistics & numerical data*; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010353:Patient Education as Topic