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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Hereditary Colon Cancer Syndromes

Table 17. Summary of Studies Evaluating Attitudes Toward, Interest in, or Intention to Use Assisted Reproductive Technology (ART) for FAPa, LSb, and PJSa

Study PopulationNcInterest or Intention in ARTComments
FAP = familial adenomatous polyposis; GT = genetic testing; LS = Lynch syndrome; PGD = preimplantation genetic diagnosis; PJS = Peutz-Jeghers syndrome; PND = prenatal diagnosis.
a Studies used a cross-sectional design and were conducted in the United States,[25]and in the Netherlands.[18,28].
b Participants were invited to complete questionnaires before clinical genetic testing for LS and at 3 months and 1 year after disclosure of genetic test results.
c Indicates number of participants older than 18 y, unless otherwise specified.
d Represents the number who indicated that they were considering having children in the future, out of a total of 130 individuals who answered a questionnaire before genetic testing.[27]
FAP-affected individuals[25]2095% would consider prenatal GT for FAP; 90% would consider PGD; 75% would consider amniocentesis or chorionic villous sampling
FAP-affected individuals[18]34133% would consider PND for FAP; 30% would consider PGD; 15% felt terminating pregnancy for FAP was acceptable24% and 25% of patients did not respond to questions about attitudes toward PND and PGD, respectively.
Individuals undergoing genetic testing for LS[27]48d21% would consider PND and/or PGD; 19% would consider only PND; 2% would consider only PGDAt 1 year after disclosure of GT results, two of nine mutation carriers reported that they were considering PGD for future pregnancy.
PJS-affected individualsa[28]5215% indicated that pregnancy termination was acceptable if PND identified a fetus with PJS; 52% indicated PGD was acceptable for persons with PJSTen (19%) individuals, nine of whom were female, reported that they had decided not to conceive a child because of PJS.

Psychological Impact of Participating in Hereditary CRC Genetic Counseling and Testing


Studies have examined the psychological status of individuals before, during, and after genetic counseling and testing for LS. Some studies have included only persons with no personal history of any LS-associated cancers,[29,30,31,32] and others have included both CRC patients and cancer-unaffected persons who are at risk of having a LS mutation.[33,34,35,36,37] Cross-sectional evaluations of the psychosocial characteristics of individuals undergoing LS genetic counseling and testing have indicated that mean pretest scores of psychological functioning for most participants are within normal limits,[33,34,35] although one study comparing affected and unaffected individuals showed that affected individuals had greater distress and worry associated with LS.[38]

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