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. 2005 Mar 22;42(10):749–755. doi: 10.1136/jmg.2004.030296

Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians

L Wideroff 1, S Vadaparampil 1, M Greene 1, S Taplin 1, L Olson 1, A Freedman 1
PMCID: PMC1735923  PMID: 15784723

Abstract

Background: Clinically relevant genetics knowledge is essential for appropriate assessment and management of inherited cancer risk, and for effective communication with patients. This national physician survey assessed knowledge regarding basic cancer genetics concepts early in the process of introduction of predictive genetic testing for breast/ovarian and hereditary non-polyposis colorectal cancer (HNPCC) syndromes.

Methods: A stratified random sample was selected from the American Medical Association Masterfile of all licensed physicians. In total, 1251 physicians (820 in primary care, 431 in selected subspecialties) responded to a 15 minute questionnaire (response rate 71%) in 1999–2000. Multivariate logistic regression analyses were conducted to identify demographic and practice characteristics associated with accurate response to three knowledge questions.

Results: Of the study population, 37.5% was aware of paternal inheritance of BRCA1/2 mutations, and 33.8% recognised that these mutations occur in <10% of breast cancer patients. Only 13.1% accurately identified HNPCC gene penetrance as ⩾50%. Obstetrics/gynaecology physicians, oncologists, and general surgeons were significantly more likely than general and family practitioners to respond accurately to the breast/ovarian questions, as were gastroenterologists to the HNPCC question.

Conclusions: These nationally representative data indicate limited physician knowledge about key cancer genetics concepts in 1999–2000, particularly among general primary care physicians. Specialists were more knowledgeable about syndromes they might treat or refer elsewhere. Recent dissemination of practice guidelines and continued expansion of relevant clinical literature may enhance knowledge over time. In addition to educational efforts to assist physicians with the growing knowledge base, more research is needed to characterise the organisational changes required within the healthcare system to provide effective cancer genetics services.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Annie Yu Hwei-Ju, Lin Kevin M., Ota David M., Lynch Henry T. Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev. 2003 Dec;29(6):461–470. doi: 10.1016/s0305-7372(03)00084-7. [DOI] [PubMed] [Google Scholar]
  2. Batra Shivani, Valdimarsdottir Heiddis, McGovern Margaret, Itzkowitz Steven, Brown Karen. Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology. Am J Gastroenterol. 2002 Mar;97(3):729–733. doi: 10.1111/j.1572-0241.2002.05556.x. [DOI] [PubMed] [Google Scholar]
  3. Blazer K. R., Grant M., Sand S. R., MacDonald D. J., Uman G. C., Weitzel J. N. Effects of a cancer genetics education programme on clinician knowledge and practice. J Med Genet. 2004 Jul;41(7):518–522. doi: 10.1136/jmg.2004.018234. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bouchard Louise, Blancquaert I., Eisinger F., Foulkes W. D., Evans G., Sobol H., Julian-Reynier C. Prevention and genetic testing for breast cancer: variations in medical decisions. Soc Sci Med. 2004 Mar;58(6):1085–1096. doi: 10.1016/s0277-9536(03)00263-6. [DOI] [PubMed] [Google Scholar]
  5. Burke Wylie, Emery Jon. Genetics education for primary-care providers. Nat Rev Genet. 2002 Jul;3(7):561–566. doi: 10.1038/nrg845. [DOI] [PubMed] [Google Scholar]
  6. Carter C. L., Scott J. A., Glauber P. M., Murphy P. D. The Oncormed approach to genetic testing. Genet Test. 1997;1(2):137–144. doi: 10.1089/gte.1997.1.137. [DOI] [PubMed] [Google Scholar]
  7. Centers for Disease Control and Prevention (CDC) Awareness of family health history as a risk factor for disease--United States, 2004. MMWR Morb Mortal Wkly Rep. 2004 Nov 12;53(44):1044–1047. [PubMed] [Google Scholar]
  8. Centers for Disease Control and Prevention (CDC) Genetic testing for breast and ovarian cancer susceptibility: evaluating direct-to-consumer marketing--Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. MMWR Morb Mortal Wkly Rep. 2004 Jul 16;53(27):603–606. [PubMed] [Google Scholar]
  9. Escher M., Sappino A. P. Primary care physicians' knowledge and attitudes towards genetic testing for breast-ovarian cancer predisposition. Ann Oncol. 2000 Sep;11(9):1131–1135. doi: 10.1023/a:1008319114278. [DOI] [PubMed] [Google Scholar]
  10. Freedman A. N., Wideroff L., Olson L., Davis W., Klabunde C., Srinath K. P., Reeve B. B., Croyle R. T., Ballard-Barbash R. US physicians' attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A. 2003 Jul 1;120A(1):63–71. doi: 10.1002/ajmg.a.10192. [DOI] [PubMed] [Google Scholar]
  11. Giardiello F. M., Brensinger J. D., Petersen G. M., Luce M. C., Hylind L. M., Bacon J. A., Booker S. V., Parker R. D., Hamilton S. R. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med. 1997 Mar 20;336(12):823–827. doi: 10.1056/NEJM199703203361202. [DOI] [PubMed] [Google Scholar]
  12. Haas Jennifer S., Kaplan Celia P., Gregorich Steven E., Pérez-Stable Eliseo J., Des Jarlais Genevieve. Do physicians tailor their recommendations for breast cancer risk reduction based on patient's risk? J Gen Intern Med. 2004 Apr;19(4):302–309. doi: 10.1111/j.1525-1497.2004.30280.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Hampel H., Sweet K., Westman J. A., Offit K., Eng C. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet. 2004 Feb;41(2):81–91. doi: 10.1136/jmg.2003.010918. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hofman K. J., Tambor E. S., Chase G. A., Geller G., Faden R. R., Holtzman N. A. Physicians' knowledge of genetics and genetic tests. Acad Med. 1993 Aug;68(8):625–632. doi: 10.1097/00001888-199308000-00013. [DOI] [PubMed] [Google Scholar]
  15. Hunter A., Wright P., Cappelli M., Kasaboski A., Surh L. Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients. Clin Genet. 1998 Jun;53(6):447–455. doi: 10.1111/j.1399-0004.1998.tb02593.x. [DOI] [PubMed] [Google Scholar]
  16. Julian-Reynier C., Eisinger F., Moatti J. P., Sobol H. French physicians' knowledge about hereditary breast/ovarian cancer: the need for continuing vocational training in genetics. Community Genet. 1999;2(4):165–172. doi: 10.1159/000016207. [DOI] [PubMed] [Google Scholar]
  17. Koil Christine E., Everett Jessica N., Hoechstetter Leah, Ricer Rick E., Huelsman Karen M. Differences in physician referral practices and attitudes regarding hereditary breast cancer by clinical practice location. Genet Med. 2003 Sep-Oct;5(5):364–369. doi: 10.1097/01.gim.0000086477.00766.c9. [DOI] [PubMed] [Google Scholar]
  18. Lapham E. V., Kozma C., Weiss J. O., Benkendorf J. L., Wilson M. A. The gap between practice and genetics education of health professionals: HuGEM survey results. Genet Med. 2000 Jul-Aug;2(4):226–231. doi: 10.1097/00125817-200007000-00005. [DOI] [PubMed] [Google Scholar]
  19. Li F. P. Translational research on hereditary colon, breast, and ovarian cancers. J Natl Cancer Inst Monogr. 1995;(17):1–4. [PubMed] [Google Scholar]
  20. Mouchawar J., Klein C. E., Mullineaux L. Colorado family physicians' knowledge of hereditary breast cancer and related practice. J Cancer Educ. 2001 Spring;16(1):33–37. doi: 10.1080/08858190109528721. [DOI] [PubMed] [Google Scholar]
  21. Mouchawar Judy, Valentine Goins Karin, Somkin Carol, Puleo Elaine, Hensley Alford Sharon, Geiger Ann M., Taplin Stephen, Gilbert Joyce, Weinmann Sheila, Zapka Jane. Guidelines for breast and ovarian cancer genetic counseling referral: adoption and implementation in HMOs. Genet Med. 2003 Nov-Dec;5(6):444–450. doi: 10.1097/01.gim.0000093979.08524.86. [DOI] [PubMed] [Google Scholar]
  22. Pichert Gabriella, Dietrich Daniel, Moosmann Peter, Zwahlen Marcel, Stahel Rolf Arno, Sappino André-Pascal. Swiss primary care physicians' knowledge, attitudes and perception towards genetic testing for hereditary breast cancer. Fam Cancer. 2003;2(3-4):153–158. doi: 10.1023/b:fame.0000004597.29811.8e. [DOI] [PubMed] [Google Scholar]
  23. Schroy Paul C., 3rd, Barrison Adam F., Ling Bruce S., Wilson Sheila, Geller Adam C. Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. Am J Gastroenterol. 2002 Apr;97(4):1031–1036. doi: 10.1111/j.1572-0241.2002.05624.x. [DOI] [PubMed] [Google Scholar]
  24. Schwartz Marc D., Lerman Caryn, Brogan Barbara, Peshkin Beth N., Halbert Chanita Hughes, DeMarco Tiffani, Lawrence William, Main David, Finch Clinton, Magnant Colette. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004 Apr 5;22(10):1823–1829. doi: 10.1200/JCO.2004.04.086. [DOI] [PubMed] [Google Scholar]
  25. Sifri R., Myers R., Hyslop T., Turner B., Cocroft J., Rothermel T., Grana J., Schlackman N. Use of cancer susceptibility testing among primary care physicians. Clin Genet. 2003 Oct;64(4):355–360. doi: 10.1034/j.1399-0004.2003.00131.x. [DOI] [PubMed] [Google Scholar]
  26. Stone Erin G., Morton Sally C., Hulscher Marlies E., Maglione Margaret A., Roth Elizabeth A., Grimshaw Jeremy M., Mittman Brian S., Rubenstein Lisa V., Rubenstein Laurence Z., Shekelle Paul G. Interventions that increase use of adult immunization and cancer screening services: a meta-analysis. Ann Intern Med. 2002 May 7;136(9):641–651. doi: 10.7326/0003-4819-136-9-200205070-00006. [DOI] [PubMed] [Google Scholar]
  27. Terdiman J. P. HNPCC: an uncommon but important diagnosis. Gastroenterology. 2001 Oct;121(4):1005–1008. doi: 10.1053/gast.2001.28634. [DOI] [PubMed] [Google Scholar]
  28. Thull Darcy L., Vogel Victor G. Recognition and management of hereditary breast cancer syndromes. Oncologist. 2004;9(1):13–24. doi: 10.1634/theoncologist.9-1-13. [DOI] [PubMed] [Google Scholar]
  29. Tinley Susan T., Houfek Julia, Watson Patrice, Wenzel Lari, Clark Mary Beth, Coughlin Susan, Lynch Henry T. Screening adherence in BRCA1/2 families is associated with primary physicians' behavior. Am J Med Genet A. 2004 Feb 15;125A(1):5–11. doi: 10.1002/ajmg.a.20431. [DOI] [PubMed] [Google Scholar]
  30. Walsh J. M., McPhee S. J. A systems model of clinical preventive care: an analysis of factors influencing patient and physician. Health Educ Q. 1992 Summer;19(2):157–175. doi: 10.1177/109019819201900202. [DOI] [PubMed] [Google Scholar]
  31. Wideroff Louise, Freedman Andrew N., Olson Lorayn, Klabunde Carrie N., Davis William, Srinath Kadaba P., Croyle Robert T., Ballard-Barbash Rachel. Physician use of genetic testing for cancer susceptibility: results of a national survey. Cancer Epidemiol Biomarkers Prev. 2003 Apr;12(4):295–303. [PubMed] [Google Scholar]
  32. Wilkins-Haug L., Hill L. D., Power M. L., Holzman G. B., Schulkin J. Gynecologists' training, knowledge, and experiences in genetics: a survey. Obstet Gynecol. 2000 Mar;95(3):421–424. doi: 10.1016/s0029-7844(99)00581-5. [DOI] [PubMed] [Google Scholar]
  33. Winkler J. D., Lohr K. N., Brook R. H. Persuasive communication and medical technology assessment. Arch Intern Med. 1985 Feb;145(2):314–317. [PubMed] [Google Scholar]
  34. Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J., Collins N., Gregory S., Gumbs C., Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995 Dec 21;378(6559):789–792. doi: 10.1038/378789a0. [DOI] [PubMed] [Google Scholar]
  35. Worthen H. G. Inherited cancer and the primary care physician. Barriers and strategies. Cancer. 1999 Dec 1;86(11 Suppl):2583–2588. doi: 10.1002/(sici)1097-0142(19991201)86:11+<2583::aid-cncr16>3.3.co;2-8. [DOI] [PubMed] [Google Scholar]
  36. Yong May Chin, Zhou Xuelian Jamie, Lee Soo Chin. The importance of paternal family history in hereditary breast cancer is underappreciated by health care professionals. Oncology. 2003;64(3):220–226. doi: 10.1159/000069309. [DOI] [PubMed] [Google Scholar]

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