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

Table 13. Summary of Studies Evaluating Interest in or Intention to Have Genetic Counseling and Testing for Familial Colorectal Cancer (CRC)a

Study PopulationNbInterest or Intention in GC or GTc
FDR = first-degree relative; GC = genetic counseling; GT = genetic testing; HCCR = hereditary colon cancer registry.
a All studies used a cross-sectional design, with the exception of one study, which used focus groups.[14]All studies were conducted in the United States, with the exception of one Canadian study.[3]
b Indicates number of participants older than 18 y, unless otherwise specified.
c Type of genetic test not specified.
d Random Digit Dial Survey with general population samples.
e Unaffected = no previous diagnosis of CRC.
General population (Utah), RDDSd[1]40147% very interested in GT; 35% somewhat interested in GT
General population (Utah), RDDS[2]38347% very interested in GT; 37% somewhat interested in GT
Unaffectede FDRs of CRC patients from tumor registry[8]42646% GC intention; 26% definite GT intention
Unaffected FDRs of CRC patients from HCCR[7]1,37377% definite GT intention if free; 15% probable
CRC patients from an oncology center and community[12]9852% definite GT interest; 20% probable
Unaffected FDRs of CRC patients from an oncology center and community[13]9584% GT interest
Focus groups of CRC patients and unaffected FDRs from an oncology center and community[14]28 CRCsCRCs: 96% GT interest before group; 89% after group
33 FDRsFDRs: 82% before group; 42% after group
General population (Ontario, Canada), RDDS[3]50181% interested in GT if test is 80% predictive; 77% interested if test is 90% accurate; 67% interested if 1% of population inherits a familial CRC gene mutation
General population (Vermont, New Hampshire, Maine), RDDS[4]1,836GT intention in next 6 months: 32% probably/definitely; 19% possibly
GT intention in next month: 19% probably/definitely; 12% possibly

Table 14. Summary of Studies Evaluating Interest in or Intention to Have Genetic Counseling and Testing for Lynch Syndrome (LS)a

Study PopulationNbInterest or Intention in GC or GTc
CRC = colorectal cancer; FDR = first-degree relative; GC = genetic counseling; GT = genetic testing; HCCR = hereditary colon cancer registry.
a All studies used a cross-sectional design, with the exception of one study, which used focus groups.[9]All studies were conducted in the United States, with the exception of one German study.[15]
b Indicates number of participants older than 18 y, unless otherwise specified.
c Type of genetic test not specified.
d Unaffected = no previous diagnosis of CRC.
Unaffectedd FDRs of CRC patients undergoing treatment[11]4551% definite GT intention; 31% probable
CRC patients and unaffected individuals undergoing LS GC[15]31 CRCs; 34 unaffectedPrecounseling: 100% (29). GT intention among CRCs who were aware of GT. 92% (30) GT intention among unaffected who were aware of GT
Postcounseling: no one decided against testing, but 5 unaffected (18%); 1 CRC undecided
CRC patients, unaffected FDRs, and age/gender-matched controls recruited from HCCR and driver's license/Medicare records[9]105If relative is a carrier: GT intention for 67% of CRCs; 75% of FDRs; 60% of controls
If insurance covers cost: GT intention for 17% of CRCs; 75% of FDRs; 40% of controls
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