Skip to main content
Log in

The Prospect of Genome-guided Preventive Medicine: A Need and Opportunity for Genetic Counselors

  • Professional Issues
  • Published:
Journal of Genetic Counseling

Abstract

One of the major anticipated benefits of genomic medicine is the area of preventive medicine. Commercially available genomic profiling is now able to generate risk information for a number of common conditions several of which have recognized preventive guidelines. Similarly, family history assessment affords powerful health risk prediction based on the shared genetic, physical and lifestyle environments within families. Thus, with the ability to help predict disease risk and enable preemptive health plans, genome-guided preventive medicine has the potential to improve population health on an individualized level. To realize this potential, steps to broaden access to accurate genomic health information must be considered. With expertise in genetic science, risk assessment and communication, and a patient-centered practice approach, genetic counselors are poised to play a critical role in facilitating the incorporation of genomic health risks into the burgeoning field of genome-guided preventive medicine.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  • Acheson, L. S. (2003). Fostering applications of genetics in primary care: what will it take? Genetics in Medicine, 5(2), 63–65.

    Article  PubMed  Google Scholar 

  • Acheson, L. S., Wiesner, G. L., Zyzanski, S. J., Goodwin, M. A., & Stange, K. C. (2000). Family history-taking in community family practice: implications for genetic screening. Genetics in Medicine, 2(3), 180–185.

    Article  PubMed  CAS  Google Scholar 

  • ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome (2009). Obstetrics & Gynecology, 113(4), 957–966.

  • Acton, R. T., Burst, N. M., Casebeer, L., Ferguson, S. M., Greene, P., Laird, B. L., et al. (2000). Knowledge, attitudes, and behaviors of Alabama’s primary care physicians regarding cancer genetics. Academic Medicine, 75(8), 850–852.

    Article  PubMed  CAS  Google Scholar 

  • Ades, L. (2007). Guidelines for the diagnosis and management of Marfan Syndrome. Heart, Lung & Circulation, 16(1), 28–30.

    Article  Google Scholar 

  • Agency for Healthcare Research and Quality (2009). National Guideline Clearing House (NGC): Query–Family + History Retrieved April 15, 2009, from http://www.guideline.gov. April 13, 2009.

  • Albain, K. S., Paik, S., & van’t Veer, L. (2009). Prediction of adjuvant chemotherapy benefit in endocrine responsive, early breast cancer using multigene assays. Breast, 18(Suppl 3), S141–S145.

    Article  PubMed  Google Scholar 

  • American Board of Genetic Counseling (2008). Practice based competencies, from http://abgc.iamonline.com/english/view.asp?x=1529&all=true.

  • American Board of Preventive Medicine (2009). Booklet of information February 2009. Retrieved 7/20/09, from www.theabpm.org/infobook.cfm, February 2009.

  • American Heart Association Nutrition Committee, Lichtenstein, A. H., Appel, L. J., Brands, M., Carnethon, M., Daniels, S., et al. (2006). Diet and lifestyle recommendations revision 2006: a scientific statement from the American Heart Association Nutrition Committee. Circulation, 114(1), 82–96.

    Article  PubMed  Google Scholar 

  • Attia, J., Ioannidis, J. P. A., Thakkinstian, A., McEvoy, M., Scott, R. J., Minelli, C., et al. (2009). How to use an article about genetic association: C: what are the results and will they help me in caring for my patients? JAMA, 301(3), 304–308.

    Article  PubMed  CAS  Google Scholar 

  • Bantle, J. P., Wylie-Rosett, J., Albright, A. L., Apovian, C. M., Clark, N. G., Franz, M. J., et al. (2006). Nutrition recommendations and interventions for diabetes-2006: a position statement of the American Diabetes Association. Diabetes Care, 29(9), 2140–2157.

    Article  PubMed  Google Scholar 

  • Bensen, J. T., Liese, A. D., Rushing, J. T., Province, M., Folsom, A. R., Rich, S. S., et al. (1999). Accuracy of proband reported family history: The NHLBI Family Heart Study (FHS). Genetic Epidemiology, 17(2), 141–150.

    Article  PubMed  CAS  Google Scholar 

  • Bethea, J., Qureshi, N., Drury, N., & Guilbert, P. (2008). The impact of genetic outreach education and support to primary care on practitioner’s confidence and competence in dealing with familial cancers. Community Genetics, 11, 289–294.

    Article  PubMed  CAS  Google Scholar 

  • Biderman, J. (2005). Attention-deficit/Hyperactivy disorder: a selcetive overview. Biological Psychiatry, 57, 1215–1220.

    Google Scholar 

  • Biesecker, B. B., & Peters, K. F. (2001). Process studies in genetic counseling: peering into the black box. American Journal of Medical Genetics, 106(3), 191–198.

    Article  PubMed  CAS  Google Scholar 

  • Blaine, S., Carroll, J., Rideout, A., Glendon, G., Meschino, W., Shuman, C., et al. (2008). Interactive genetic counseling role-play: a novel educational strategy for family physicians. Journal of Genetic Counseling, 17(2), 189–195.

    Article  PubMed  Google Scholar 

  • Bowling, B. V., Acra, E. E., Wang, L., Myers, M. F., Dean, G. E., Markle, G. C., et al. (2008). Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics, 178(1), 15–22.

    Article  PubMed  Google Scholar 

  • Burke, W., & Psaty, B. M. (2007). Personalized medicine in the era of genomics. JAMA, 298(14), 1682–1684.

    Article  PubMed  CAS  Google Scholar 

  • Catz, D. S., Green, N. S., Tobin, J. N., Lloyd-Puryear, M. A., Kyler, P., Umemoto, A., et al. (2005). Attitudes about genetics in underserved, culturally diverse populations. Community Genetics, 8(3), 161–172.

    Article  PubMed  Google Scholar 

  • Cavanaugh, K., Huizinga, M. M., Wallston, K. A., Gebretsadik, T., Shintani, A., Davis, D., et al. (2008). Association of numeracy and diabetes control. Annals of Internal Medicine, 148(10), 737–746.

    PubMed  Google Scholar 

  • Chao, S., Roberts, J. S., Marteau, T. M., Silliman, R., Cupples, L. A., & Green, R. C. (2008). Health behavior changes after genetic risk assessment for Alzheimer disease: The REVEAL Study. Alzheimer Disease and Associated Disorders, 22(1), 94–97.

    Article  PubMed  Google Scholar 

  • Chung, W. W., Chen, C. A., Cupples, L. A., Roberts, J. S., Hiraki, S. C., Nair, A. K., et al. (2009). A new scale measuring psychological impact of genetic susceptibility testing for Alzheimer disease. Alzheimer Disease and Associated Disorders, 23(1), 50–56.

    Article  PubMed  Google Scholar 

  • Clyman, J. C., Nazir, F., Tarolli, S., Black, E., Lombardi, R. Q., & Higgins, J. J. (2007). The impact of a genetics education program on physicians’ knowledge and genetic counseling referral patterns. Medical Teacher, 29(6), 143–150.

    Article  Google Scholar 

  • Coelho, J. J., Arnold, A., Nayler, J., Tischkowitz, M., & MacKay, J. (2005). An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations. European Journal of Cancer, 41(15), 2257–2261.

    Article  PubMed  Google Scholar 

  • Cornelis, M. C., Qi, L., Kraft, P., & Hu, F. B. (2009). TCF7L2, dietary carbohydrate, and risk of type 2 diabetes in US women. The American Journal of Clinical Nutrition, 89(4), 1256–1262.

    Article  PubMed  CAS  Google Scholar 

  • Davidson, M. A. (2008). Primary care for children and adolescents with down syndrome. Pediatric Clinics of North America, 55(5), 1099–1111.

    Article  PubMed  Google Scholar 

  • DiLorenzo, T. A., Schnur, J., Montgomery, G. H., Erblich, J., Winkel, G., & Bovbjerg, D. H. (2006). A model of disease-specific worry in heritable disease: the influence of family history, perceived risk and worry about other illnesses. Journal of Behavioral Medicine, 29(1), 37–49.

    Article  PubMed  Google Scholar 

  • Drury, N., Bethea, J., Guilbert, P., & Qureshi, N. (2007). Genetics support to primary care practitions—a demostration project. Journal of Genetic Counseling, 16, 583–591.

    Article  PubMed  CAS  Google Scholar 

  • Elwyn, G., Edwards, A., Iredale, R., Davies, P., & Gray, J. (2005). Identifying future models for delivering genetic services: a nominal group study in primary care. BMC Family Practice, 6(1), 14.

    Article  PubMed  Google Scholar 

  • Fanshawe, T. R., Prevost, A. T., Roberts, J. S., Green, R. C., Armstrong, D., & Marteau, T. M. (2008). Explaining behavior change after genetic testing: the problem of collinearity between test results and risk estimates. Genetic Testing, 12(3), 381–386.

    Article  PubMed  Google Scholar 

  • Feero, W. G., Bigley, M. B., & Brinner, K. M. (2008). New standards and enhanced utility for family health history information in the electronic health record: an update from the american health information community’s family health history multi-stakeholder workgroup. Journal of the American Medical Informatics Association, 15(6), 723–728.

    Article  PubMed  Google Scholar 

  • Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009). Human genetic variation and its contribution to complex traits. Nature Reviews. Genetics, 10(4), 241–251.

    Article  PubMed  CAS  Google Scholar 

  • Frieden, T. R., & Mostashari, F. (2008). Health care as if health mattered. JAMA, 299(8), 950–952.

    Article  PubMed  CAS  Google Scholar 

  • Gaff, C. L., Aitken, M., Flouris, A., & Metcalfe, S. A. (2007). A model for the development of genetics education programs for health professionals. Genetics in Medicine, 9(7), 451–457.

    Article  PubMed  Google Scholar 

  • Gattas, M. R., MacMillan, J. C., Meinecke, I., Loane, M., & Wootton, R. (2001). Telemedicine and clinical genetics: establishing a successful service. Journal of Telemedicine and Telecare, 7(Suppl 2), 68–70.

    Article  PubMed  Google Scholar 

  • Giardiello, F. M., Brensinger, J. D., Petersen, G. M., Luce, M. C., Hylind, L. M., Bacon, J. A., et al. (1997). The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. The New England Journal of Medicine, 336(12), 823–827.

    Article  PubMed  CAS  Google Scholar 

  • Goddard, K. A. B., Duquette, D., Zlot, A., Johnson, J., Annis-Emeott, A., Lee, P. W., et al. (2009). Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. American Journal of Public Health, 99(3), 442–445.

    Article  PubMed  Google Scholar 

  • Goldstein, D. B. (2009). Common genetic variation and human traits. The New England Journal of Medicine, 360(17), 1696–1698.

    Article  PubMed  CAS  Google Scholar 

  • Gordon, E. S., Gordish-Dressman, H. A., Devaney, J., Clarkson, P., Thompson, P., Gordon, P., et al. (2005). Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales. European Journal of Human Genetics, 13(9), 1047–1054.

    Article  PubMed  Google Scholar 

  • Grant, R. W., Hivert, M., Pandiscio, J. C., Florez, J. C., Nathan, D. M., & Meigs, J. B. (2009). The clinical application of genetic testing in type 2 diabetes: a patient and physician survey. Diabetologia, 52(11), 2299–2305.

    Article  PubMed  CAS  Google Scholar 

  • Green, R. C., Roberts, J. S., Cupples, L. A., Relkin, N. R., Whitehouse, P. J., Brown, T., et al. (2009). Disclosure of APOE genotype for risk of Alzheimer’s disease. The New England Journal of Medicine, 361(3), 245–254.

    Article  PubMed  CAS  Google Scholar 

  • Grosse, S. D., McBride, C. M., Evans, J. P., & Khoury, M. J. (2009). Personal utility and genomic information: look before you leap. Genetics in Medicine, 11(8), 575–576.

    Article  PubMed  Google Scholar 

  • Gulzar, Z., Goff, S., Njindou, A., Heart, H., Rafi, I., Savage, R., et al. (2007). Nurse-led cancer genetics clinics in primary and secondary care in varied ethnic population areas: interaction with primary care to improve ascertainment of individuals from ethnic minorities. Familial Cancer, 6(2), 205–212.

    Article  PubMed  Google Scholar 

  • Guttmacher, A. E., Jenkins, J., & Uhlman, W. R. (2001). Genomic medicine: who will practice it? A call to open arms. American Journal of Medical Genetics, (Semin Med Genet), 106, 216–222.

    Article  CAS  Google Scholar 

  • Guttmacher, A. E., Porteous, M. E., & McInerney, J. D. (2007). Educating health-care professionals about genetic and genomics. Nature Reviews. Genetics, 8, 151–157.

    Article  PubMed  CAS  Google Scholar 

  • Haga, S. B., & Burke, W. (2008). Pharmacogenetic testing: not as simple as it seems. Genetics in Medicine, 10(6), 391–395.

    Article  PubMed  Google Scholar 

  • Hariri, S., Yoon, P. W., Qureshi, N., Valdez, R., Scheuner, M. T., & Khoury, M. J. (2006). Family history of type 2 diabetes: a population-based screening tool for prevention? Genetics in Medicine, 8(2), 102–108.

    Article  PubMed  Google Scholar 

  • Harrison, T. A., Doyle, D. L., McGowan, C., Cohen, L., Repass, E., Pfau, R. B., et al. (2009). Billing for medical genetics and genetic counseling services: a national survey. Journal of Genetic Counseling, 19(1), 38–43.

    Article  PubMed  Google Scholar 

  • Hayflick, S. J., & Eiff, M. P. (2002). Will the learners be learned? Genetics in Medicine, 4(2), 43–44.

    Article  PubMed  Google Scholar 

  • Helmes, A. W., Culver, J. O., & Bowen, D. J. (2006). Results of a randomized study of telephone versus in-person breast cancer risk counseling. Patient Education and Counseling, 64(1–3), 96–103.

    Article  PubMed  Google Scholar 

  • Hemminki, K., Sundquist, J., & Lorenzo Bermejo, J. (2008). Familial risks for cancer as the basis for evidence-based clinical referral and counseling. Oncologist, 13(3), 239–247.

    Google Scholar 

  • Heshka, J. T., Palleschi, C., Howley, H., Wilson, B., & Wells, P. S. (2008). A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genetics in Medicine, 10(1), 19–32.

    Article  PubMed  Google Scholar 

  • Hindorff, L., Junkins, H., Mehta, J., & Manolio, T. (2009). A Catalog of Published Genome-Wide Association Studies Retrieved December 5, 2009, from www.genome.gov/gwastudies

  • Hinton, R. B. Jr. (2008). The family history: reemergence of an established tool. Critical Care Nursing Clinics of North America, 20(2), 149–158.

    Article  PubMed  Google Scholar 

  • Hunter, D. J., Khoury, M. J., & Drazen, J. M. (2008). Letting the genome out of the bottle-will we get our wish? The New England Journal of Medicine, 358(2), 105–107.

    Article  PubMed  CAS  Google Scholar 

  • Ioannidis, J. P. A. (2009). Personalized genetic prediction: too limited, too expensive, or too soon? Annals of Internal Medicine, 150(2), 139–141.

    PubMed  Google Scholar 

  • Johnson, J., Giles, R., Larsen, L., Ware, J., Adams, T., & Hunt, S. (2005). Utah’s family high risk program: bridging the gap between genomics and public health. Preventing Chronic Disease, 2(2), 1–7.

    Google Scholar 

  • Khoury, M. J., McBride, C. M., Schully, S. D., Ioannidis, J. P., Feero, W. G., Janssens, A. C., et al. (2009). The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine, 11(8), 559–567.

    Article  PubMed  CAS  Google Scholar 

  • Kolor, K., Liu, T., St Pierre, J., & Khoury, M. J. (2009). Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genetics in Medicine, 11(8), 595.

    Article  PubMed  Google Scholar 

  • Kraft, P., Wacholder, S., Cornelis, M. C., Hu, F. B., Hayes, R. B., Thomas, G., et al. (2009). Beyond odds ratios—communicating disease risk based on genetic profiles. Nature Reviews Genetics, 10(4), 264–269.

    Google Scholar 

  • Kroese, M., Zimmern, R. L., & Pinder, S. E. (2007). HER2 status in breast cancer-an example of pharmacogenetic testing. Journal of the Royal Society of Medicine, 100(7), 326–329.

    Article  PubMed  Google Scholar 

  • Kumar, S., & Gantley, M. (1999). Tensions between policy makers and general practitioners in implementing new genetics: grounded theory interview study. BMJ, 319(7222), 1410–1413.

    PubMed  CAS  Google Scholar 

  • Kushi, L. H., Byers, T., Doyle, C., Bandera, E. V., McCullough, M., McTiernan, A., et al. (2006). American Cancer Society Guidelines on Nutrition and Physical Activity for cancer prevention: reducing the risk of cancer with healthy food choices and physical activity. CA: A Cancer Journal for Clinicians, 56(5), 254–281. quiz 313–254.

    Article  Google Scholar 

  • Lanie, A. D., Jayaratne, T. E., Sheldon, J. P., Kardia, S. L. R., Anderson, E. S., Feldbaum, M., et al. (2004). Exploring the public understanding of basic genetic concepts. Journal of Genetic Counseling, 13(4), 305–320.

    Article  PubMed  Google Scholar 

  • Levine, R. S., Briggs, N. C., Husaini, B. A., Foster, I., Hull, P. C., Pamies, R. J., et al. (2005). HEDIS prevention performance indicators, prevention quality assessment and Healthy People 2010. Journal of Health Care for the Poor and Underserved, 16(4 Suppl A), 64–82.

    Article  PubMed  Google Scholar 

  • Levy, H. P., LoPresti, L., & Seibert, D. C. (2008). Twenty questions in genetic medicine-an assessment of World Wide Web databases for genetics information at the point of care. Genetics in Medicine, 10(9), 659–667.

    Article  PubMed  CAS  Google Scholar 

  • Maher, B. (2008). Personal genomes: The case of the missing heritability. Nature, 456(7218), 18–21.

    Google Scholar 

  • Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., et al. (2009). Finding the missing heritability of complex diseases. Nature, 461(7265), 747–753.

    Google Scholar 

  • Marteau, T. M., & Lerman, C. (2001). Genetic risk and behavioural change. BMJ, 322(7293), 1056–1059.

    Article  PubMed  CAS  Google Scholar 

  • McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P., et al. (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews. Genetics, 9(5), 356–369.

    Article  PubMed  CAS  Google Scholar 

  • McConkie-Rosell, A., & O’Daniel, J. M. (2007). After the diagnosis: the roles of genetic counseling. In M. Mazzocco & J. Ross (Eds.), Neurogenetic developmental disorders: Manifestation and identification in childhood. MIT Press.

  • McGlynn, E. A., Asch, S. M., Adams, J., Keesey, J., Hicks, J., DeCristofaro, A., et al. (2003). The quality of health care delivered to adults in the United States. The New England Journal of Medicine, 348(26), 2635–2645.

    Article  PubMed  Google Scholar 

  • Metcalfe, S., Hurworth, R., Newstead, J., & Robins, R. (2002). Needs assessment study of genetics education for general practitioners in Australia. Genetics in Medicine, 4(2), 71–77.

    Article  PubMed  Google Scholar 

  • Mihaescu, R., van Hoek, M., Sijbrands, E. J. G., Uitterlinden, A. G., Witteman, J. C. M., Hofman, A., et al. (2009). Evaluation of risk prediction updates from commercial genome-wide scans. Genetics in Medicine, 11(8), 588–594.

    Article  PubMed  Google Scholar 

  • Milne, B. J., Caspi, A., Harrington, H., Poulton, R., Rutter, M., & Moffitt, T. E. (2009). Predictive value of family history on severity of illness. Archives of General Psychiatry, 66(7), 738–747.

    Article  PubMed  Google Scholar 

  • MMWR. (2004). Awareness of family health history as a risk factor for disease-United States, 2004. Morbidity and Mortality Weekly Report, 53(44), 1044–1047.

    Google Scholar 

  • Mosca, L., Banka, C. L., Benjamin, E. J., Berra, K., Bushnell, C., Dolor, R. J., et al. (2007). Evidence-based guidelines for cardiovascular disease prevention in women: 2007 update. Circulation, 115(11), 1481–1501.

    Article  PubMed  Google Scholar 

  • Mouchawar, J., Klein, C. E., & Mullineaux, L. (2001). Colorado family physicians’ knowledge of hereditary breast cancer and related practice. Journal of Cancer Education, 16(1), 33–37.

    PubMed  CAS  Google Scholar 

  • National Society of Genetic Counselors (2007). Scope of practice revised June 2007. Retrieved 7/20/09, from www.nsgc.org/members_only/ScopeOfPrac.cfm, June 2007

  • National Society of Genetic Counselors’ Definition Task Force, Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., et al. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. J Genet Couns, 15(2), 77–83.

    Article  PubMed  Google Scholar 

  • Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009). An agenda for personalized medicine. Nature, 461(7265), 724–726.

    Article  PubMed  CAS  Google Scholar 

  • O’Daniel, J., Lucas, J., Deverka, P., Ermentrout, D., Silvey, G., Lobach, D. F., et al. (2009). Factors influencing uptake of pharmacogenetic testing in a diverse patient population. Public Health Genomics, 13(1), 48–54.

    Google Scholar 

  • O’Neill, S. M., Rubinstein, W. S., Wang, C., Yoon, P. W., Acheson, L. S., Rothrock, N., et al. (2009). Familial risk for common diseases in primary care: The Family Healthware(TM) impact trial. American Journal of Preventive Medicine, 36(6), 506–514.

    Article  PubMed  Google Scholar 

  • Pagon, R. A. (2002). Genetic testing for disease susceptibilities: consequences for genetic counseling. Trends in Molecular Medicine, 8(6), 306–307.

    Article  PubMed  Google Scholar 

  • Pearson, T. A., & Manolio, T. A. (2008). How to interpret a genome-wide association study. JAMA, 299(11), 1335–1344.

    Google Scholar 

  • Pearson, E. R., Donnelly, L. A., Kimber, C., Whitley, A., Doney, A. S., McCarthy, M. I., et al. (2007). Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes, 56(8), 2178–2182.

    Article  PubMed  CAS  Google Scholar 

  • Peshkin, B. N., Schwartz, M. D., Isaacs, C., Hughes, C., Main, D., & Lerman, C. (2002). Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing. Cancer Epidemiology, Biomarkers & Prevention, 11(10 Pt 1), 1115–1118.

    Google Scholar 

  • Pichert, G., Dietrich, D., Moosmann, P., Zwahlen, M., Stahel, R. A., & Sappino, A. P. (2003). Swiss primary care physicians’ knowledge, attitudes and perception towards genetic testing for hereditary breast cancer. Familial Cancer, 2(3–4), 153–158.

    PubMed  Google Scholar 

  • Qureshi, N., & Kai, J. (2005). Genomic medicine for underserved minority populations in family medicine. American Family Physician, 72(3), 386–387.

    PubMed  Google Scholar 

  • Qureshi, N., & Kai, J. (2008). Informing patients of familial diabetes mellitus risk: how do they respond? A cross-sectional survey. BMC Health Services Research, 8, 37.

    Article  PubMed  Google Scholar 

  • Rafi, I., Qureshi, N., Lucassen, A., Modell, M., Elmslie, F., Kai, J., et al. (2009). ‘Over-the-counter’ genetic testing: what does it really mean for primary care? The British Journal of General Practice, 59(561), 283–287.

    Article  PubMed  Google Scholar 

  • Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer? (2009). Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Genetics in Medicine, 11(1), 66–73.

  • Rees, G., Young, M.-A., Gaff, C., & Martin, P. R. (2006). A qualitative study of health professionals’ views regarding provision of information about health-protective behaviors during genetic consultation for breast cancer. Journal of Genetic Counseling, 15(2), 95–104.

    Article  PubMed  Google Scholar 

  • Reid, G., & Emery, J. (2006). Chronic disease prevention in general practice: applying the family history. Australian Family Physician, 35(11), 879–885.

    PubMed  Google Scholar 

  • Rich, E. C., Burke, W., Heaton, C. J., Haga, S., Pinsky, L., Short, M. P., et al. (2004). Reconsidering the family history in primary care. Journal of General Internal Medicine, 19(3), 273–280.

    Article  PubMed  Google Scholar 

  • Saito, T., Nanri, S., & Saito, I. (2009). Reliability of family history of lifestyle-related diseases on questionnaire. Pediatrics International, 51(4), 514–519.

    Article  PubMed  Google Scholar 

  • Sanderson, S. C., O’Neill, S. C., White, D. B., Bepler, G., Bastian, L., Lipkus, I. M., et al. (2009). Responses to online GSTM1 genetic test results among smokers related to patients with lung cancer: a pilot study. Cancer Epidemiology, Biomarkers & Prevention, 18(7), 1953–1961.

    Article  CAS  Google Scholar 

  • Sanderson, S. C., Persky, S., & Michie, S. (2010). Psychological and behavioral responses to genetic test results indicating increased risk of obesity: does the causal pathway from gene to obesity matter? Public Health Genomics, 13, 34–47.

    Google Scholar 

  • Sandhaus, L. M., Singer, M. E., Dawson, N. V., & Wiesner, G. L. (2001). Reporting BRCA test results to primary care physicians. Genetics in Medicine, 3(5), 327–334.

    Article  PubMed  CAS  Google Scholar 

  • Sangha, K. K., Dircks, A., & Langlois, S. (2003). Assessment of the effectiveness of genetic counseling by telephone compared to a clinic visit. Journal of Genetic Counseling, 12(2), 171–184.

    Article  Google Scholar 

  • Saukko, P. M., Ellard, S., Richards, S. H., Shepherd, M. H., & Campbell, J. L. (2007). Patients’ understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia. BMC Health Services Research, 7, 82.

    Article  PubMed  Google Scholar 

  • Scheuner, M. T. (2003). Genetic evaluation for coronary artery disease. Genetics in Medicine, 5(4), 269–285.

    Article  PubMed  Google Scholar 

  • Scheuner, M. T., Wang, S.-J., Raffel, L. J., Larabell, S. K., & Rotter, J. I. (1997). Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. American Journal of Medical Genetics, 71(3), 315–324.

    Article  PubMed  CAS  Google Scholar 

  • Scheuner, M. T., Whitworth, W. C., McGruder, H., Yoon, P. W., & Khoury, M. J. (2006). Expanding the definition of a positive family history for early-onset coronary heart disease. Genetics in Medicine, 8(8), 491–501.

    Article  PubMed  Google Scholar 

  • Scheuner, M. T., Sieverding, P., & Shekelle, P. G. (2008). Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA, 299(11), 1320–1334.

    Article  PubMed  CAS  Google Scholar 

  • Schroy, P. C., 3rd, Barrison, A. F., Ling, B. S., Wilson, S., & Geller, A. C. (2002). Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. The American Journal of Gastroenterology, 97(4), 1031–1036.

    Article  PubMed  Google Scholar 

  • Shirts, B. H., & Parker, L. S. (2008). Changing interpretation, stable genes: responsibilities of patients, professionals and policy makers in the clinical interpretation of complex genetic information. Genetics in Medicine, 10(11), 778–783.

    Article  PubMed  Google Scholar 

  • Silvey, K., Stock, J., Hasegawa, L. E., & Au, S. M. (2009). Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 151C(3), 207–213.

    Article  Google Scholar 

  • Smerecnik, C. M., Mesters, I., de Vries, N. K., & de Vries, H. (2008). Educating the general public about multifactorial genetic disease: applying a theory-based framework to understand current public knowledge. Genetics in Medicine, 10(4), 251–258.

    Article  PubMed  Google Scholar 

  • Smith, M., Freivogel, M. E., & Parrott, S. (2008). NSGC Professional Status Survey. Retrieved from http://www.nsgc.org/members_only/PSS/.

  • Stalker, H. J., Wilson, R., McCune, H., Gonzalez, J., Moffett, M., & Zori, R. T. (2006). Telegenetic medicine: improved access to services in an underserved area. Journal of Telemedicine and Telecare, 12(4), 182–185.

    Article  PubMed  CAS  Google Scholar 

  • Suther, S. G., & Goodson, P. (2003). Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genetics in Medicine, 5(2), 70–76.

    Article  PubMed  Google Scholar 

  • Suther, S. G., & Goodson, P. (2004). Texas physicians’ perceptions of genomic medicine as an innovation. Clinical Genetics, 65(5), 368–377.

    Article  PubMed  CAS  Google Scholar 

  • The Royal Australian College of General Practitioners. (2009). Guidelines for preventive activities in general practice (7th ed.). South Melbourne: RACGP.

    Google Scholar 

  • Trepanier, A., Ahrens, M., McKinnon, W., Peters, J., Stopfer, J., Grumet, S., et al. (2004). Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 13(2), 83–114.

    Article  PubMed  Google Scholar 

  • Trinidad, S. B., Fryer-Edwards, K., Crest, A., Kyler, P., Lloyd-Puryear, M. A., & Burke, W. (2008). Educational needs in genetic medicine: primary care perspectives. Community Genetics, 11(3), 160–165.

    Article  PubMed  Google Scholar 

  • Trotter, T. L., & Martin, H. M. (2007). Family history in pediatric primary care. Pediatrics, 120(Suppl 2), S60–65.

    Article  PubMed  Google Scholar 

  • U.S. Preventive Services Task Force (2008). AHRQ Publication No. 08–5122 Guide to clinical preventive services, 2008. Retrieved from www.ahrq.gov/clinic/pocketgd.htm.

  • US Department of Health and Human Services Public Health Service (2009). My family health portrait retrieved April, 2009, from http://familyhistory.hhs.gov.

  • Valdez, R., Yoon, P. W., Liu, T., & Khoury, M. J. (2007). Family history and prevalence of diabetes in the US population: 6-year results from the National Health and Nutrition Examination Survey (NHANES, 1999 2004). Diabetes

  • van Langen, I. M., Birnie, E., Leschot, N. J., Bonsel, G. J., & Wilde, A. A. (2003). Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? European Heart Journal, 24(6), 560–566.

    Article  PubMed  Google Scholar 

  • Vogel, K., Murthy, V., Dudley, B., Grubs, R., Gettig, E., Ford, A., et al. (2007). The use of family health histories to address health disparities in an African American community. Health Promotion Practice, 8(4), 350–357.

    Article  PubMed  Google Scholar 

  • Watson, E., Clements, A., Lucassen, A., Yudkin, P., Mackay, J., & Austoker, J. (2002). Education improves general practitioner (GP) management of familial breast/ovarian cancer: findings from a cluster randomised controlled trial. Journal of Medical Genetics, 39(10), 779–781.

    Article  PubMed  CAS  Google Scholar 

  • Wattendorf, D. J., & Hadley, D. W. (2005). Family history: the three-generation pedigree. American Family Physician, 72(3), 441–448.

    PubMed  Google Scholar 

  • Weinreb, N. J., Aggio, M. C., Andersson, H. C., Andria, G., Charrow, J., Clarke, J. T. R., et al. (2004). Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Seminars in Hematology, 41(Supplement 5), 15–22.

    Article  PubMed  Google Scholar 

  • Westwood, G., Pickering, R. M., Latter, S., Lucassen, A., Little, P., & Temple, I. K. (2006). Feasibility and acceptability of poviding nurse counsellor genetics clinics in primary care. Journal of Advanced Nursing, 53(5), 591–604.

    Article  PubMed  Google Scholar 

  • 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. Journal of Medical Genetics, 42(10), 749–755.

    Article  PubMed  CAS  Google Scholar 

  • Wilkins-Haug, L., Hill, L. D., Power, M. L., Holzman, G. B., & Schulkin, J. (2000). Gynecologists’ training, knowledge, and experiences in genetics: a survey. Obstetrics and Gynecology, 95(3), 421–424.

    Article  PubMed  CAS  Google Scholar 

  • Woelderink, A., Ibarreta, D., Hopkins, M. M., & Rodriguez-Cerezo, E. (2006). The current clinical practice of pharmacogenetic testing in Europe: TPMT and HER2 as case studies. The Pharmacogenomics Journal, 6(1), 3–7.

    Article  PubMed  CAS  Google Scholar 

  • Wood, M. E., Stockdale, A., & Flynn, B. S. (2008). Interviews with primary care physicians regarding taking and interpreting the cancer family history. Family Practice, 25(5), 334–340.

    Article  PubMed  Google Scholar 

  • Woolf, S. H., & Stange, K. C. (2006). A sense of priorities for the healthcare commons. American Journal of Preventive Medicine, 31(1), 99–102.

    Article  PubMed  Google Scholar 

  • Yoon, P. W., Scheuner, M. T., Jorgensen, C., & Khoury, M. J. (2009). Developing Family Healthware, a family history screening tool to prevent common chronic diseases. Preventing Chronic Disease, 6(1), A33.

    PubMed  Google Scholar 

  • Ziogas, A., & Anton-Culver, H. (2003). Validation of family history data in cancer family registries. American Journal of Preventive Medicine, 24(2), 190–198.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The author would like to thank her colleague, Dr. Allyn McConkie, for her thoughtful guidance in the preparation of this review. The author would also like to express her appreciation for the insightful commentary provided by Betsy Gettig.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Julianne M. O’Daniel.

Rights and permissions

Reprints and permissions

About this article

Cite this article

O’Daniel, J.M. The Prospect of Genome-guided Preventive Medicine: A Need and Opportunity for Genetic Counselors. J Genet Counsel 19, 315–327 (2010). https://doi.org/10.1007/s10897-010-9302-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-010-9302-4

Keywords

Navigation