Abstract
Identifying women appropriate for cancer genetic counseling referral depends on patient-reported family history. Understanding predictors of reporting a high-risk family is critical in ensuring compliance with current referral guidelines. Our objectives were to (1) assess prevalence of candidates for BRCA1 and BRCA2 counseling referral in a primary care setting, (2) explore associations with high-risk status and various patient (e.g., race) and family structure (e.g., number of relatives) characteristics, and (3) determine whether high-risk patients had genetic counseling and/or testing. Survey and pedigree data were collected between 2010 and 2012 for 486 Women’s Health Clinic patients. Analyses in 2013 investigated perceived cancer risk and worry, family structure, and receipt of genetic counseling. We explored whether these were associated with meeting USPSTF guidelines for genetic counseling referral. Twenty-two (4.5 %) women met the criteria for BRCA referral. Only one of these women had previous genetic counseling, and one reported prior genetic testing. Older women were more likely to meet BRCA referral criteria (P < 0.001). Although perceived risk was higher among high-risk women, 27 % of high-risk women felt their breast cancer risk was “low”, and 32 % felt their risk was lower than average. About one in 22 women in primary care may require genetics services for hereditary breast and ovarian cancer, but alarmingly, few actually receive these services. Also, a significant proportion do not perceive that they are at increased risk. Educational interventions may be needed for both providers and patients to increase awareness of familial risk and appropriate genetic counseling services.
References
Acheson LS, Wiesner GL, Zyzanski SJ, Goodwin MA, Stange KC (2000) Family history-taking in community family practice: implications for genetic screening. Genet Med : J Am Coll Med Genet 2(3):180–185
ASHG Statement (1998) Professional disclosure of familial genetic information. the American society of human genetics social issues subcommittee on familial disclosure. Am J Hum Genet 62(2):474–483
Bellcross CA, Leadbetter SD, Hensley AS, Peipins LA (2013) Prevalence of healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral. Cancer Epidemiol Biomarkers Prev 22(4):728–735
Brandt R, Ali Z, Sabel A, McHugh T, Gilman P (2008) Cancer genetics evaluation: barriers to and improvements for referral. Genet Test 12:9–12
Erby LH, Roter D, Larson S, Cho J (2008) The rapid estimate of adult literacy in genetics (REAL-G): a means to assess literacy deficits in the context of genetics. Am J Med Genet A 146A(2):174–181
Flynn BS, Wood ME, Ashikaga T, Stockdale A, Dana GS, Naud S (2010) Primary care physicians’ use of family history for cancer risk assessment. BMC Fam Pract 11:45
Gramling R, Anthony D, Frierson G, Bowen D (2007) The cancer worry chart: a single-item screening measure of worry about developing breast cancer. Psycho-Oncology 16(6):593–597
Lerman C, Trock B, Rimer BK, Jepson C, Brody D, Boyce A (1991) Psychological side effects of breast cancer screening. Health Psychol : J Div Health Psychol Am Psychol Assoc 10(4):259–267
Mai PL, Garceau AO, Graubard BI, Dunn M, McNeel TS, Gonsalves L et al (2011) Confirmation of family cancer history reported in a population-based survey. J Natl Cancer Inst 103:788–797
Murff HJ, Spigel DR, Syngal S (2004) Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA : J Am Med Assoc 292(12):1480–1489
Murff HJ, Greevy RA, Syngal S (2007) The comprehensiveness of family cancer history assessments in primary care. Community Genet 10:174–180
Office of Disease Prevention and Health Promotion, Department of Health and Human Services. Healthy People 2020 progress review: Cancer and genomics. Retrieved 02/06, 2013, from https://hhs-faca.webex.com/hhs-faca/onstage/g.php?d=990350602&t=a&EA=jquillin%40mcvh-vcu.edu&ET=f4bd639857c7c594da6028ba7d57c860&ORT=MiMxMQ%3D%3D
Qureshi N, Wilson B, Santaguida P, Carroll J, Allanson J, Culebro CR et al (2007) Collection and use of cancer family history in primary care. Evid Rep Technol Assess (Full Rep) 1–84
Qureshi N, Carroll JC, Wilson B, Santaguida P, Allanson J, Brouwers M et al (2009) The current state of cancer family history collection tools in primary care: a systematic review. Genet Med 11:495–506
Sifri RD, Wender R, Paynter N (2002) Cancer risk assessment from family history: gaps in primary care practice. J Fam Pract 51:856
Thompson HS, Sussner K, Schwartz MD, Edwards T, Forman A, Jandorf L, Brown K, Bovbjerg DH, Valdimarsdottir HB (2012) Receipt of genetic counseling recommendations among black women at high-risk for BRCA mutations. Genet Test Mol Biomark 16(11):1257–1262
U.S. Department of Health and Human Services. Office of Disease Prevention and Health Promotion. Healthy people 2020. Retrieved 02/05, 2013, from www.healthypeople.gov/2020
U.S. Preventive Services Task Force (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143(5):355–361
Wood ME, Stockdale A, Flynn BS (2008) Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract 25:334–340
Yoon PW, Scheuner MT, Gwinn M, Khoury MJ, Jorgensen C, Hariri S et al (2004) Awareness of family health history as a risk factor for disease—United States, 2004. MMWR Morb Mortal Wkly Rep 53(44):1044–1047
Ziogas A, Anton-Culver H (2003) Validation of family history data in cancer family registries. Am J Prev Med 24(2):190–198
Ziogas A, Horick NK, Kinney AY, Lowery JT, Domchek SM, Isaacs C et al (2011) Clinically relevant changes in family history over time. JAMA 306:172–178
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This work was supported by an R01 grant from the National Cancer Institute (CA140959).
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Quillin, J.M., Krist, A.H., Gyure, M. et al. Patient-reported hereditary breast and ovarian cancer in a primary care practice. J Community Genet 5, 179–183 (2014). https://doi.org/10.1007/s12687-013-0161-1
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DOI: https://doi.org/10.1007/s12687-013-0161-1