Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Hereditary Colon Cancer Syndromes
Table 14. Summary of Studies Evaluating Interest in or Intention to Have Genetic Counseling and Testing for Lynch Syndrome (LS)a continued...
An alternative to these tests is preimplantation genetic diagnosis (PGD), a procedure used to test fertilized embryos for genetic disorders prior to uterine implantation.[25,26] Using the information obtained from the genetic testing, potential parents can decide whether or not to implant. PGD can be used to detect mutations in hereditary cancer predisposing genes, including APC.[20,27,28]
From the limited studies published to date, there appears to be interest in the use of ART for FAP, LS, and PJS.[20,27,29,30] However, actual uptake rates have not been reported.
Table 15. Summary of Studies Evaluating Attitudes Toward, Interest in, or Intention to Use Assisted Reproductive Technology (ART) for FAPa, LSb, and PJSa
|Study Population||Nc||Interest or Intention in ART||Comments|
|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,and in the Netherlands.[20,30].|
|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 prior to genetic testing.|
|FAP-affected individuals||20||95% would consider prenatal GT for FAP; 90% would consider PGD; 75% would consider amniocentesis or chorionic villous sampling|| |
|FAP-affected individuals||341||33% would consider PND for FAP; 30% would consider PGD; 15% felt terminating pregnancy for FAP was acceptable||24% and 25% of patients did not respond to questions about attitudes toward PND and PGD, respectively.|
|Individuals undergoing genetic testing for LS||48d||21% would consider PND and/or PGD; 19% would consider only PND; 2% would consider only PGD||At 1 year after disclosure of GT results, two of nine mutation carriers reported that they were considering PGD for future pregnancy.|
|PJS-affected individualsa||52||15% indicated that pregnancy termination was acceptable if PND identified a fetus with PJS; 52% indicated PGD was acceptable for persons with PJS||Ten (19%) individuals, nine of whom were female, reported that they had decided not to conceive a child because of PJS.|