FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 336:823-827 March 20, 1997 Number 12 Next

	Full Text PDF Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background The use of commercially available tests for genes linked to familial cancer has aroused concern about the impact of these tests on patients. Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenomatous polyposis coli (APC ) gene that causes colorectal cancer if prophylactic colectomy is not performed. We evaluated the clinical use of commercial APC gene testing.

Methods We assessed indications for APC gene testing, whether informed consent was obtained and genetic counseling was offered before testing, and the interpretation of the results through telephone interviews with physicians and genetic counselors in a nationwide sample of 177 patients from 125 families who underwent testing during 1995.

Results Of the 177 patients tested, 83.0 percent had clinical features of familial adenomatous polyposis or were at risk for the disease — both valid indications for being tested. The appropriate strategy for presymptomatic testing was used in 79.4 percent (50 of 63 patients). Only 18.6 percent (33 of 177) received genetic counseling before the test, and only 16.9 percent (28 of 166) provided written informed consent. In 31.6 percent of the cases the physicians misinterpreted the test results. Among the patients with unconventional indications for testing, the rate of positive results was only 2.3 percent (1 of 44).

Conclusions Patients who underwent genetic tests for familial adenomatous polyposis often received inadequate counseling and would have been given incorrectly interpreted results. Physicians should be prepared to offer genetic counseling if they order genetic tests.

Source Information

From the Departments of Medicine (F.M.G., J.D.B., L.M.H., J.A.B., S.V.B.) and Pathology (S.R.H.) and the Oncology Center (F.M.G., G.M.P., S.R.H.), Johns Hopkins University School of Medicine, Baltimore; the Departments of Epidemiology (G.M.P.) and Health Policy and Management (R.D.P.), Johns Hopkins University School of Hygiene and Public Health, Baltimore; and the Department of Molecular Biology, LabCorp, Research Triangle Park, N.C. (M.C.L.).

Address reprint requests to Dr. Giardiello at Blalock 935, Johns Hopkins Hospital, 600 N. Wolfe St., Baltimore, MD 21287-4461.

Full Text of this Article

This article has been cited by other articles:

• Grover, S., Stoffel, E. M., Mercado, R. C., Ford, B. M., Kohlman, W. K., Shannon, K. M., Conrad, P. G., Blanco, A. M., Terdiman, J. P., Gruber, S. B., Chung, D. C., Syngal, S. (2009). Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for Lynch Syndrome. JCO 27: 3981-3986 [Abstract] [Full Text]  
• Lubin, I. M., McGovern, M. M., Gibson, Z., Gross, S. J., Lyon, E., Pagon, R. A., Pratt, V. M., Rashid, J., Shaw, C., Stoddard, L., Trotter, T. L., Williams, M. S., Amos Wilson, J., Pass, K. (2009). Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report. J. Mol. Diagn. 11: 162-171 [Abstract] [Full Text]  
• Henderson, G. E. (2008). Introducing Social and Ethical Perspectives on Gene--Environment Research. Sociological Methods Research 37: 251-276 [Abstract]  
• Lubin, I. M., Caggana, M., Constantin, C., Gross, S. J., Lyon, E., Pagon, R. A., Trotter, T. L., Wilson, J. A., McGovern, M. M. (2008). Ordering Molecular Genetic Tests and Reporting Results: Practices in Laboratory and Clinical Settings. J. Mol. Diagn. 10: 459-468 [Abstract] [Full Text]  
• Helgesson, G, Ludvigsson, J, Gustafsson Stolt, U (2005). How to handle informed consent in longitudinal studies when participants have a limited understanding of the study. J. Med. Ethics 31: 670-673 [Abstract] [Full Text]  
• Eriksson, S, Helgesson, G (2005). Keep people informed or leave them alone? A suggested tool for identifying research participants who rightly want only limited information. J. Med. Ethics 31: 674-678 [Abstract] [Full Text]  
• Wang, C., Bowen, D. J., Kardia, S. L. R. (2005). Research and Practice Opportunities at the Intersection of Health Education, Health Behavior, and Genomics. Health Educ Behav 32: 686-701 [Abstract]  
• Wideroff, L, Vadaparampil, S T, Greene, M H, Taplin, S, Olson, L, Freedman, A N (2005). Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J. Med. Genet. 42: 749-755 [Abstract] [Full Text]  
• Ojha, R. P., Thertulien, R. (2005). Health Care Policy Issues as a Result of the Genetic Revolution: Implications for Public Health. AJPH 95: 385-388 [Abstract] [Full Text]  
• Attard, T., Lynch, H. (2005). Extracolonic Manifestations of Familial Adenomatous Polyposis After Proctocolectomy--Invited Critique. Arch Surg 140: 164-164 [Full Text]  
• Sifri, R., Gangadharappa, S., Acheson, L. S. (2004). Identifying and Testing for Hereditary Susceptibility to Common Cancers. CA Cancer J Clin 54: 309-326 [Abstract] [Full Text]  
• Freund, C. L., Clayton, E. W., Wilfond, B. S. (2004). Natural Settings Trials Improving the Introduction of Clinical Genetic Tests. J Law Med Ethics 32: 106-110  
• Bisgaard, M L, Ripa, R, Knudsen, A L, Bulow, S (2004). Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype. Gut 53: 266-270 [Abstract] [Full Text]  
• Keku, T. O., Rakhra-Burris, T., Millikan, R. (2003). Gene Testing: What the Health Professional Needs to Know. J. Nutr. 133: 3754S-3757 [Abstract] [Full Text]  
• Chung, D. C., Mino, M., Shannon, K. M. (2003). Case 34-2003 - A 45-Year-Old Woman with a Family History of Colonic Polyps and Cancer. NEJM 349: 1750-1760 [Full Text]  
• (2003). American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility. JCO 21: 2397-2406 [Abstract] [Full Text]  
• Jarvinen, H J (2003). Genetic testing for polyposis: practical and ethical aspects. Gut 52: ii19-22 [Abstract] [Full Text]  
• Wideroff, L., Freedman, A. N., Olson, L., Klabunde, C. N., Davis, W., Srinath, K. P., Croyle, R. T., Ballard-Barbash, R. (2003). Physician Use of Genetic Testing for Cancer Susceptibility: Results of a National Survey. Cancer Epidemiol. Biomarkers Prev. 12: 295-303 [Abstract] [Full Text]  
• Lynch, H. T., de la Chapelle, A. (2003). Hereditary Colorectal Cancer. NEJM 348: 919-932 [Full Text]  
• van Langen, I.M, Birnie, E, Leschot, N.J, Bonsel, G.J, Wilde, A.A.M (2003). Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era?. Eur Heart J 24: 560-566 [Abstract] [Full Text]  
• Chen, W. Y., Garber, J. E., Higham, S., Schneider, K. A., Davis, K. B., Deffenbaugh, A. M., Frank, T. S., Gelman, R. S., Li, F. P. (2002). BRCA1/2 Genetic Testing in the Community Setting. JCO 20: 4485-4492 [Abstract] [Full Text]  
• Calvert, P. M., Frucht, H. (2002). The Genetics of Colorectal Cancer. ANN INTERN MED 137: 603-612 [Abstract] [Full Text]  
• Robertson, J. A., Brody, B., Buchanan, A., Kahn, J., McPherson, E. (2002). Pharmacogenetic Challenges For The Health Care System. Health Aff (Millwood) 21: 155-167 [Abstract] [Full Text]  
• Giardiello, F. M., Yang, V. W., Hylind, L. M., Krush, A. J., Petersen, G. M., Trimbath, J. D., Piantadosi, S., Garrett, E., Geiman, D. E., Hubbard, W., Offerhaus, G. J. A., Hamilton, S. R. (2002). Primary Chemoprevention of Familial Adenomatous Polyposis with Sulindac. NEJM 346: 1054-1059 [Abstract] [Full Text]  
• Aktan-Collan, K., Haukkala, A., Mecklin, J.-P., Uutela, A., Kaariainen, H. (2001). Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer. J. Med. Genet. 38: 787-792 [Full Text]  
• Ross, L. F. (2001). Genetic Exceptionalism vs. Paradigm Shift: Lessons from HIV. J Law Med Ethics 29: 141-148  
• Lawrence, W. F., Peshkin, B. N., Liang, W., Isaacs, C., Lerman, C., Mandelblatt, J. S. (2001). Cost of Genetic Counseling and Testing for BRCA1 and BRCA2 Breast Cancer Susceptibility Mutations. Cancer Epidemiol. Biomarkers Prev. 10: 475-481 [Abstract] [Full Text]  
• HYER, W., FELL, J. M E (2001). Screening for familial adenomatous polyposis. Arch. Dis. Child. 84: 377-380 [Full Text]  
• Emery, J., Hayflick, S. (2001). The challenge of integrating genetic medicine into primary care. BMJ 322: 1027-1030 [Full Text]  
• Friedl, W, Caspari, R, Sengteller, M, Uhlhaas, S, Lamberti, C, Jungck, M, Kadmon, M, Wolf, M, Fahnenstich, J, Gebert, J, Moslein, G, Mangold, E, Propping, P (2001). Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48: 515-521 [Abstract] [Full Text]  
• Ross, L. F. (2001). Genetic Exceptionalism vs. Paradigm Shift: Lessons from HIV. J Law Med Ethics 29: 141-148  
• Cummings, S. (2000). The Genetic Testing Process: How Much Counseling Is Needed?. JCO 18: 60s-64 [Full Text]  
• Ross, L. F., Moon, M. R. (2000). Ethical Issues in Genetic Testing of Children. Arch Pediatr Adolesc Med 154: 873-879 [Full Text]  
• Shields, P. G., Harris, C. C. (2000). Cancer Risk and Low-Penetrance Susceptibility Genes in Gene-Environment Interactions. JCO 18: 2309-2315 [Abstract] [Full Text]  
• Caulfield, T. (1999). Gene testing in the biotech century: Are physicians ready?. CMAJ 161: 1122-1124 [Full Text]  
• Syngal, S., Fox, E. A., Li, C., Dovidio, M., Eng, C., Kolodner, R. D., Garber, J. E. (1999). Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer: Implications for Clinical Predisposition Testing. JAMA 282: 247-253 [Abstract] [Full Text]  
• Holtzman, N. A. (1999). Promoting Safe and Effective Genetic Tests in the United States: Work of the Task Force on Genetic Testing. Clin. Chem. 45: 732-738 [Abstract] [Full Text]  
• Galton, D.J., Ferns, G.A.A. (1999). Genetic markers to predict polygenic disease: a new problem for social genetics. QJM 92: 223-232 [Abstract] [Full Text]  
• Goelen, G, Teugels, E, Bonduelle, M, Neyns, B, De Grève, J (1999). High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects. J. Med. Genet. 36: 304-308 [Abstract] [Full Text]  
• Li, F. P. (1999). Cancer Control in Susceptible Groups: Opportunities and Challenges. JCO 17: 719-719 [Abstract] [Full Text]  
• McDonnell, S. M., Phatak, P. D., Felitti, V., Hover, A., McLaren, G. D. (1998). Screening for Hemochromatosis in Primary Care Settings. ANN INTERN MED 129: 962-970 [Abstract] [Full Text]  
• Karanjawala, Z. E., Collins, F. S. (1998). Genetics in the Context of Medical Practice. JAMA 280: 1533-1534 [Full Text]  
• McGovern, M. (1998). Ensuring Accurate Molecular Genetic Testing. Clin. Chem. 44: 1146-1148 [Full Text]  
• Tasca, R. J., McClure, M. E. (1998). The Emerging Technology and Application of Preimplantation Genetic Diagnosis. J Law Med Ethics 26: 7-16  
• Kodish, E., Wiesner, G. L., Mehlman, M., Murray, T. (1998). Genetic Testing for Cancer Risk: How to Reconcile the Conflicts. JAMA 279: 179-181 [Full Text]  
• Ponder, B. (1997). Genetic Testing for Cancer Risk. Science 278: 1050-1054 [Abstract] [Full Text]  
• McKinnon, W. C., Baty, B. J., Bennett, R. L., Magee, M., Neufeld-Kaiser, W. A., Peters, K. F., Sawyer, J. C., Schneider, K. A. (1997). Predisposition Genetic Testing for Late-Onset Disorders in Adults: A Position Paper of the National Society of Genetic Counselors. JAMA 278: 1217-1220 [Abstract]  
• Giardiello, F. M. (1997). Genetic Testing in Hereditary Colorectal Cancer. JAMA 278: 1278-1281 [Abstract]  
• Collins, F. S. (1997). Preparing Health Professionals for the Genetic Revolution. JAMA 278: 1285-1286 [Abstract]  
• Ross, L. F., Veatch, R. M. (1997). Consent for Clinical Research. NEJM 337: 282-283 [Full Text]  
• Healy, B. (1997). BRCA Genes -- Bookmaking, Fortunetelling, and Medical Care. NEJM 336: 1448-1449 [Full Text]  
• Veatch, R. M. (1997). Consent, Confidentiality, and Research. NEJM 336: 869-870 [Full Text]