Table 16. Summary of Prospective Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancer (CRC)a,b,c
| Syndrome | Study Population | Nd | GC and GT Participatione |
| LS | Affectedf and unaffectedf members of four extended families from HCCR with a known LS mutation in kindred [41] | 219 | 59% pretest GC; posttest GC, GT |
| LS | Unaffected FDRs of CRC patients from HCCR [39] | 505 | 21% pretest GC; 26% pending pretest GC; 15% GT (blood); 4% pending GT (blood) |
| LS | Affected and unaffected members of four extended families from HCCR with a known LS mutation in kindred [40] | 208 | 47% pretest GC; 43% posttest GC, GT |
| LS | CRC patients from an oncology clinic and HCCR [42] | 510 | 89% GT (blood) |
| LS | Unaffected members of 36 Finnish families with a known LS mutation in kindred [43] | 446 | 78% pretest GC; 75% posttest GC, GT |
| LS and familial CRC | Affected and unaffected persons who underwent GC in a high-risk colon cancer clinic [46] | 57 (LS); 91 (familial CRC) | LS: 14% posttest GC, GT |
| APC I130K: 85% posttest GC, GT | |||
| LS | CRC patients diagnosed age <60 y with affected FDR or second-degree relative, recruited through physicians [44] | 101 | 47% pretest GC; 36% posttest GC, GT |
| LS | Unaffected FDRs of known LS mutation carriers [45] | 111 | 51% pretest GC; 50% posttest GC, GT |
| LS | CRC patients from HCCR, relatives, and spouses [10] | 140 | 26% pretest GC |
| FAP | Unaffected persons from HCCR age >5 y, with FAP-affected parent and known APC mutation in family [47] | 57 adults; 38 minors | 87% pretest GC; posttest GC, GT (82% adults; 95% minors) |
| FAP = familial adenomatous polyposis; FDR = first-degree relative; GC = genetic counseling; GT = genetic testing; HCCR = hereditary colon cancer registry; LS = Lynch syndrome. | |||
| aAll studies used a prospective, observational design with the exception of one randomized trial evaluating two recruitment methods.[44] | |||
| bAll studies offered free GC and GT, with the exception of one study.[46] | |||
| cAll studies were conducted in the United States, with the exception of one Finnish study and one German study.[10,43] | |||
| dIndicates number of participants older than 18 years, unless otherwise specified. | |||
| eGC = participated in pretest or posttest genetic counseling; GT = participated in genetic testing and received results; GT (blood) = only provided blood sample for genetic testing. | |||
| fAffected = current or previous colorectal cancer diagnosis; Unaffected = no previous diagnosis of colorectal cancer. |
References
- Keller M, Jost R, Kadmon M, et al.: Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling. Dis Colon Rectum 47 (2): 153-62, 2004. [PUBMED Abstract]
- Codori AM, Petersen GM, Miglioretti DL, et al.: Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiol Biomarkers Prev 8 (4 Pt 2): 345-51, 1999. [PUBMED Abstract]
- Lerman C, Hughes C, Trock BJ, et al.: Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 281 (17): 1618-22, 1999. [PUBMED Abstract]
- Lynch HT, Lemon SJ, Karr B, et al.: Etiology, natural history, management and molecular genetics of hereditary nonpolyposis colorectal cancer (Lynch syndromes): genetic counseling implications. Cancer Epidemiol Biomarkers Prev 6 (12): 987-91, 1997. [PUBMED Abstract]
- Vernon SW, Gritz ER, Peterson SK, et al.: Intention to learn results of genetic testing for hereditary colon cancer. Cancer Epidemiol Biomarkers Prev 8 (4 Pt 2): 353-60, 1999. [PUBMED Abstract]
- Aktan-Collan K, Mecklin JP, Järvinen H, et al.: Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer 89 (1): 44-50, 2000. [PUBMED Abstract]
- Loader S, Shields C, Levenkron JC, et al.: Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer. Genet Test 6 (4): 281-90, 2002. [PUBMED Abstract]
- Hadley DW, Jenkins J, Dimond E, et al.: Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med 163 (5): 573-82, 2003. [PUBMED Abstract]
- Johnson KA, Rosenblum-Vos L, Petersen GM, et al.: Response to genetic counseling and testing for the APC I1307K mutation. Am J Med Genet 91 (3): 207-11, 2000. [PUBMED Abstract]
- Petersen GM, Boyd PA: Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. J Natl Cancer Inst Monogr (17): 67-71, 1995. [PUBMED Abstract]
