Journal of General Internal Medicine

, Volume 25, Issue 7, pp 717–724 | Cite as

Familial Risk of Cancer and Knowledge and Use of Genetic Testing

  • Heather J. Baer
  • Phyllis Brawarsky
  • Michael F. Murray
  • Jennifer S. HaasEmail author
Original Research



Identification of genetic risk factors for common diseases, including cancer, highlights the importance of familial risk assessment. Little is known about patterns of familial cancer risk in the general population, or whether this risk is associated with knowledge and use of genetic testing.


To examine the distribution of familial cancer risk and its associations with genetic testing in the United States.


Cross-sectional analysis of the 2005 National Health Interview Survey (NHIS).


31,428 adults who completed the NHIS Cancer Control Supplement.


Familial cancer risk was estimated based on the number of first-degree relatives with a breast and ovarian cancer syndrome (BRCA)- or a Lynch-associated cancer, age of onset (<50 or ≥50 years), and personal history of any cancer. Outcomes included having heard of genetic testing, discussed genetic testing with a physician, been advised by a physician to have testing, and received genetic testing.


Most adults (84.5%) had no family history of BRCA- or Lynch syndrome-associated cancer; 12.9% had a single first-degree relative (5.3% with early onset); and 2.7% had ≥2 first-degree relatives. Although 40.2% of adults had heard of genetic testing for cancer risk, only 5.6% of these individuals had discussed testing with a physician, and of these 36.9% were advised to be tested. Overall, only 1.4% of adults who had heard of genetic testing received a test. Familial risk was associated with higher rates of testing; 49.5% of participants in the highest risk group had heard of testing, of those 14.8% had discussed it with their physician, and 4.5% had received genetic testing.


These nationally representative data provide estimates of the prevalence of familial cancer risk in the US and suggest that information about genetic testing is not reaching many at higher risk of inherited cancer.


family history primary care practice cancer 



This research was conducted with support from Harvard Catalyst | The Harvard Clinical and Translational Science Center (NIH Grant no. 1 UL1 RR 025758-01 and financial contributions from participating institutions) and the American Cancer Society (RSGT-08-006-01-CPHPS). The funding organizations were not involved in the design, conduct of the study, interpretation of the data, or the preparation of the manuscript.

Conflict of Interest

Drs. Baer, Murray, and Ms. Brawarsky have no conflicts of interest to disclose. Dr. Haas has received grant funding from the Aetna Foundation for a project examining utilization of personalized tests and treatments for breast cancer and also received grant support from a research grant from Pfizer for a grant on adverse drug event reporting.


  1. 1.
    Murff HJ, Byrne D, Syngal S. Cancer risk assessment: quality and impact of the family history interview. Am J Prev Med. 2004;27(3):239–245.PubMedGoogle Scholar
  2. 2.
    Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med. 2003;24(2):128–135.CrossRefPubMedGoogle Scholar
  3. 3.
    Yoon PW, Scheuner MT, Peterson-Oehlke KL, Gwinn M, Faucett A, Khoury MJ. Can family history be used as a tool for public health and preventive medicine? Genet Med. 2002;4(4):304–310.CrossRefPubMedGoogle Scholar
  4. 4.
    Yoon PW, Scheuner MT, Jorgensen C, Khoury MJ. Developing Family Healthware, a family history screening tool to prevent common chronic diseases. Prev Chronic Dis. 2009;6(1):A33.PubMedGoogle Scholar
  5. 5.
    Gramling R, Nash J, Siren K, Eaton C, Culpepper L. Family physician self-efficacy with screening for inherited cancer risk. Ann Fam Med. 2004;2(2):130–132.CrossRefPubMedGoogle Scholar
  6. 6.
    Rich EC, Burke W, Heaton CJ, et al. Reconsidering the family history in primary care. J Gen Intern Med. 2004;19(3):273–280.CrossRefPubMedGoogle Scholar
  7. 7.
    Awareness of family health history as a risk factor for disease-United States, 2004. MMWR Morb Mortal Wkly Rep. 2004;53(44):1044–1047.Google Scholar
  8. 8.
    Pleis JR, Lethbridge-Cejku M. Summary health statistics for US adults: National Health Interview Survey, 2005. Vital Health Stat 10. 2006(232):1–153Google Scholar
  9. 9.
    Calvert PM, Frucht H. The genetics of colorectal cancer. Ann Intern Med. 2002;137(7):603–612.PubMedGoogle Scholar
  10. 10.
    Nelson HD, Huffman LH, Fu R, Harris EL. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the US Preventive Services Task Force. Ann Intern Med. 2005;143(5):362–379.PubMedGoogle Scholar
  11. 11.
    NCI. Genetics of Colorectal Cancer. Accessed March 9, 2010 2009.
  12. 12.
    NCI. Genetics of Breast and Ovarian Cancer. Accessed March 9, 2010.
  13. 13.
    Brandt A, Bermejo JL, Sundquist J, Hemminki K. Age of onset in familial cancer. Ann Oncol. 2008;19(12):2084–2088.CrossRefPubMedGoogle Scholar
  14. 14.
    Levy DE, Garber JE, Shields AE. Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. J Gen Intern Med. 2009;24(7):822–828.CrossRefPubMedGoogle Scholar
  15. 15.
    Ramsey SD, Yoon P, Moonesinghe R, Khoury MJ. Population-based study of the prevalence of family history of cancer: implications for cancer screening and prevention. Genet Med. 2006;8(9):571–575.CrossRefPubMedGoogle Scholar
  16. 16.
    Mouchawar J, Byers T, Cutter G, Dignan M, Michael S. A study of the relationship between family history of breast cancer and knowledge of breast cancer genetic testing prerequisites. Cancer Detect Prev. 1999;23(1):22–30.CrossRefPubMedGoogle Scholar
  17. 17.
    Bosompra K, Flynn BS, Ashikaga T, Rairikar CJ, Worden JK, Solomon LJ. Likelihood of undergoing genetic testing for cancer risk: a population-based study. Prev Med. 2000;30(2):155–166.CrossRefPubMedGoogle Scholar
  18. 18.
    Satia JA, McRitchie S, Kupper LL, Halbert CH. Genetic testing for colon cancer among African-Americans in North Carolina. Prev Med. 2006;42(1):51–59.CrossRefPubMedGoogle Scholar
  19. 19.
    Honda K. Who gets the information about genetic testing for cancer risk? The role of race/ethnicity, immigration status, and primary care clinicians. Clin Genet. 2003;64(2):131–136.CrossRefPubMedGoogle Scholar
  20. 20.
    Armstrong K, Weber B, Ubel PA, Guerra C, Schwartz JS. Interest in BRCA1/2 testing in a primary care population. Prev Med. 2002;34(6):590–595.CrossRefPubMedGoogle Scholar
  21. 21.
    Pagan JA, Su D, Li L, Armstrong K, Asch DA. Racial and ethnic disparities in awareness of genetic testing for cancer risk. Am J Prev Med. 2009;37(6):524–530.CrossRefPubMedGoogle Scholar
  22. 22.
    Ramirez AG, Aparicio-Ting FE, de Majors SS, Miller AR. Interest, awareness, and perceptions of genetic testing among Hispanic family members of breast cancer survivors. Ethn Dis. 2006;16(2):398–403.PubMedGoogle Scholar
  23. 23.
    Wideroff L, Vadaparampil ST, Breen N, Croyle RT, Freedman AN. Awareness of genetic testing for increased cancer risk in the year 2000 National Health Interview Survey. Community Genet. 2003;6(3):147–156.CrossRefPubMedGoogle Scholar
  24. 24.
    Medalie JH, Zyzanski SJ, Goodwin MA, Stange KC. Two physician styles of focusing on the family. J Fam Pract. 2000;49(3):209–215.PubMedGoogle Scholar
  25. 25.
    Sabatino SA, McCarthy EP, Phillips RS, Burns RB. Breast cancer risk assessment and management in primary care: provider attitudes, practices, and barriers. Cancer Detect Prev. 2007;31(5):375–383.CrossRefPubMedGoogle Scholar
  26. 26.
    Acton RT, Burst NM, Casebeer L, et al. Knowledge, attitudes, and behaviors of Alabama’s primary care physicians regarding cancer genetics. Acad Med. 2000;75(8):850–852.CrossRefPubMedGoogle Scholar
  27. 27.
    Scheuner MT, Sieverding P, Shekelle PG. Delivery of genomic medicine for common chronic adult diseases: a systematic review. Jama. 2008;299(11):1320–1334.CrossRefPubMedGoogle Scholar
  28. 28.
    Carroll JC, Brown JB, Blaine S, Glendon G, Pugh P, Medved W. Genetic susceptibility to cancer. Family physicians’ experience. Can Fam Physician. 2003;49:45–52.PubMedGoogle Scholar
  29. 29.
    Suther S, Goodson P. Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genet Med. 2003;5(2):70–76.CrossRefPubMedGoogle Scholar
  30. 30.
    Elwyn G, Iredale R, Gray J. Reactions of GPs to a triage-controlled referral system for cancer genetics. Fam Pract. 2002;19(1):65–71.CrossRefPubMedGoogle Scholar
  31. 31.
    Emery J, Morris H, Goodchild R, et al. The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care. Br J Cancer. 2007;97(4):486–493.CrossRefPubMedGoogle Scholar
  32. 32.
    Lucassen A, Watson E, Harcourt J, Rose P, O’Grady J. Guidelines for referral to a regional genetics service: GPs respond by referring more appropriate cases. Fam Pract. 2001;18(2):135–140.CrossRefPubMedGoogle Scholar
  33. 33.
    Cooksey JA, Forte G, Benkendorf J, Blitzer MG. The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists. Genet Med. 2005;7(6):439–443.CrossRefPubMedGoogle Scholar
  34. 34.
    Reid GT, Walter FM, Brisbane JM, Emery JD. Family history questionnaires designed for clinical use: a systematic review. Public Health Genomics. 2009;12(2):73–83.CrossRefPubMedGoogle Scholar
  35. 35.
    Acheson LS, Zyzanski SJ, Stange KC, Deptowicz A, Wiesner GL. Validation of a self-administered, computerized tool for collecting and displaying the family history of cancer. J Clin Oncol. 2006;24(34):5395–5402.CrossRefPubMedGoogle Scholar
  36. 36.
    National Insitutes of Health State-of-the-Science Conference Statement: Family History and Improving Health; August 24–26, 2009.Google Scholar

Copyright information

© Society of General Internal Medicine 2010

Authors and Affiliations

  • Heather J. Baer
    • 1
    • 2
    • 3
  • Phyllis Brawarsky
    • 1
  • Michael F. Murray
    • 4
  • Jennifer S. Haas
    • 1
    • 2
    • 5
    Email author
  1. 1.Division of General Medicine and Primary CareBrigham and Women’s HospitalBostonUSA
  2. 2.Department of MedicineHarvard Medical SchoolBostonUSA
  3. 3.Department of EpidemiologyHarvard School of Public HealthBostonUSA
  4. 4.Division of GeneticsBrigham and Women’s HospitalBostonUSA
  5. 5.Department of Society, Human Development, and HealthHarvard School of Public HealthBostonUSA

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