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

Table 15. Summary of Studies Evaluating Attitudes Toward, Interest in, or Intention to Use Assisted Reproductive Technology (ART) for FAPa, LSb, and PJSa continued...

Participation in Genetic Counseling and Testing for Hereditary CRC


There are an increasing number of studies examining the actual uptake of genetic counseling and testing for LS (see Table 16). Studies have included both colorectal cancer patients and unaffected, high-risk family members, recruited mainly from clinical settings and familial colon cancer registries. Most studies actively recruited participants for free genetic counseling and testing as part of research protocols.[10,39,40,41,42,43,44,45] Participation or uptake was defined at various points in the process, including genetic counseling before testing; provision of a blood sample for testing; and genetic counseling for disclosure of test results.

Table 16. Summary of Prospective Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancer (CRC)a,b,c

SyndromeStudy PopulationNdGC and GT Participatione
FAP = familial adenomatous polyposis; FDR = first-degree relative; GC = genetic counseling; GT = genetic testing; HCCR = hereditary colon cancer registry; LS = Lynch syndrome.
a All studies used a prospective, observational design with the exception of one randomized trial evaluating two recruitment methods.[44]
b All studies offered free GC and GT, with the exception of one study.[46]
c All studies were conducted in the United States, with the exception of one Finnish study and one German study.[10,43]
d Indicates number of participants older than 18 years, unless otherwise specified.
e GC = participated in pretest or posttest genetic counseling; GT = participated in genetic testing and received results; GT (blood) = only provided blood sample for genetic testing.
f Affected = current or previous colorectal cancer diagnosis; Unaffected = no previous diagnosis of colorectal cancer.
LSAffectedf and unaffectedf members of four extended families from HCCR with a known LS mutation inkindred [41]21959% pretest GC; posttest GC, GT
LSUnaffected FDRs of CRC patients from HCCR[39]50521% pretest GC; 26% pending pretest GC; 15% GT (blood); 4% pending GT (blood)
LSAffected and unaffected members of four extended families from HCCR with a known LS mutation in kindred[40]20847% pretest GC; 43% posttest GC, GT
LSCRC patients from an oncology clinic and HCCR[42]51089% GT (blood)
LSUnaffected members of 36 Finnish families with a known LS mutation in kindred[43]44678% pretest GC; 75% posttest GC, GT
LS and familial CRCAffected and unaffected persons who underwent GC in a high-risk colon cancer clinic[46]57 (LS); 91 (familial CRC)LS: 14% posttest GC, GT
APCI130K: 85% posttest GC, GT
LSCRC patients diagnosed age <60 y with affected FDR orsecond-degree relativerecruited through physicians[44]10147% pretest GC; 36% posttest GC, GT
LSUnaffected FDRs of known LS mutation carriers[45]11151% pretest GC; 50% posttest GC, GT
LSCRC patients from HCCR, relatives, and spouses[10]14026% pretest GC
FAPUnaffected persons from HCCR age >5 y with FAP-affected parent and knownAPCmutation in family[47]57 adults; 38 minors87% pretest GC; posttest GC, GT (82% adults; 95% minors)
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