Journal of Genetic Counseling

, Volume 19, Issue 4, pp 315–327 | Cite as

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

  • Julianne M. O’DanielEmail author
Professional Issues


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.


Genetic counseling Professional roles Genomic medicine Preventive medicine Personalized medicine Primary care Genome profiling 



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.


  1. Acheson, L. S. (2003). Fostering applications of genetics in primary care: what will it take? Genetics in Medicine, 5(2), 63–65.PubMedCrossRefGoogle Scholar
  2. 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.PubMedCrossRefGoogle Scholar
  3. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome (2009). Obstetrics & Gynecology, 113(4), 957–966.Google Scholar
  4. 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.PubMedCrossRefGoogle Scholar
  5. Ades, L. (2007). Guidelines for the diagnosis and management of Marfan Syndrome. Heart, Lung & Circulation, 16(1), 28–30.CrossRefGoogle Scholar
  6. Agency for Healthcare Research and Quality (2009). National Guideline Clearing House (NGC): Query–Family + History Retrieved April 15, 2009, from April 13, 2009.
  7. 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.PubMedCrossRefGoogle Scholar
  8. American Board of Genetic Counseling (2008). Practice based competencies, from
  9. American Board of Preventive Medicine (2009). Booklet of information February 2009. Retrieved 7/20/09, from, February 2009.
  10. 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.PubMedCrossRefGoogle Scholar
  11. 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.PubMedCrossRefGoogle Scholar
  12. 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.PubMedCrossRefGoogle Scholar
  13. 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.PubMedCrossRefGoogle Scholar
  14. 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.PubMedCrossRefGoogle Scholar
  15. Biderman, J. (2005). Attention-deficit/Hyperactivy disorder: a selcetive overview. Biological Psychiatry, 57, 1215–1220.Google Scholar
  16. 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.PubMedCrossRefGoogle Scholar
  17. 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.PubMedCrossRefGoogle Scholar
  18. 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.PubMedCrossRefGoogle Scholar
  19. Burke, W., & Psaty, B. M. (2007). Personalized medicine in the era of genomics. JAMA, 298(14), 1682–1684.PubMedCrossRefGoogle Scholar
  20. 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.PubMedCrossRefGoogle Scholar
  21. 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.PubMedGoogle Scholar
  22. 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.PubMedCrossRefGoogle Scholar
  23. 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.PubMedCrossRefGoogle Scholar
  24. 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.CrossRefGoogle Scholar
  25. 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.PubMedCrossRefGoogle Scholar
  26. 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.PubMedCrossRefGoogle Scholar
  27. Davidson, M. A. (2008). Primary care for children and adolescents with down syndrome. Pediatric Clinics of North America, 55(5), 1099–1111.PubMedCrossRefGoogle Scholar
  28. 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.PubMedCrossRefGoogle Scholar
  29. 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.PubMedCrossRefGoogle Scholar
  30. 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.PubMedCrossRefGoogle Scholar
  31. 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.PubMedCrossRefGoogle Scholar
  32. 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.PubMedCrossRefGoogle Scholar
  33. 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.PubMedCrossRefGoogle Scholar
  34. Frieden, T. R., & Mostashari, F. (2008). Health care as if health mattered. JAMA, 299(8), 950–952.PubMedCrossRefGoogle Scholar
  35. 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.PubMedCrossRefGoogle Scholar
  36. 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.PubMedCrossRefGoogle Scholar
  37. 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.PubMedCrossRefGoogle Scholar
  38. 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.PubMedCrossRefGoogle Scholar
  39. Goldstein, D. B. (2009). Common genetic variation and human traits. The New England Journal of Medicine, 360(17), 1696–1698.PubMedCrossRefGoogle Scholar
  40. 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.PubMedCrossRefGoogle Scholar
  41. 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.PubMedCrossRefGoogle Scholar
  42. 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.PubMedCrossRefGoogle Scholar
  43. 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.PubMedCrossRefGoogle Scholar
  44. 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.PubMedCrossRefGoogle Scholar
  45. 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.CrossRefGoogle Scholar
  46. Guttmacher, A. E., Porteous, M. E., & McInerney, J. D. (2007). Educating health-care professionals about genetic and genomics. Nature Reviews. Genetics, 8, 151–157.PubMedCrossRefGoogle Scholar
  47. Haga, S. B., & Burke, W. (2008). Pharmacogenetic testing: not as simple as it seems. Genetics in Medicine, 10(6), 391–395.PubMedCrossRefGoogle Scholar
  48. 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.PubMedCrossRefGoogle Scholar
  49. 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.PubMedCrossRefGoogle Scholar
  50. Hayflick, S. J., & Eiff, M. P. (2002). Will the learners be learned? Genetics in Medicine, 4(2), 43–44.PubMedCrossRefGoogle Scholar
  51. 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.PubMedCrossRefGoogle Scholar
  52. 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
  53. 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.PubMedCrossRefGoogle Scholar
  54. Hindorff, L., Junkins, H., Mehta, J., & Manolio, T. (2009). A Catalog of Published Genome-Wide Association Studies Retrieved December 5, 2009, from
  55. Hinton, R. B. Jr. (2008). The family history: reemergence of an established tool. Critical Care Nursing Clinics of North America, 20(2), 149–158.PubMedCrossRefGoogle Scholar
  56. 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.PubMedCrossRefGoogle Scholar
  57. Ioannidis, J. P. A. (2009). Personalized genetic prediction: too limited, too expensive, or too soon? Annals of Internal Medicine, 150(2), 139–141.PubMedGoogle Scholar
  58. 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
  59. 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.PubMedCrossRefGoogle Scholar
  60. 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.PubMedCrossRefGoogle Scholar
  61. 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
  62. 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.PubMedCrossRefGoogle Scholar
  63. 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.PubMedGoogle Scholar
  64. 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.CrossRefGoogle Scholar
  65. 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.PubMedCrossRefGoogle Scholar
  66. 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.PubMedCrossRefGoogle Scholar
  67. 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.PubMedCrossRefGoogle Scholar
  68. Maher, B. (2008). Personal genomes: The case of the missing heritability. Nature, 456(7218), 18–21.Google Scholar
  69. 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
  70. Marteau, T. M., & Lerman, C. (2001). Genetic risk and behavioural change. BMJ, 322(7293), 1056–1059.PubMedCrossRefGoogle Scholar
  71. 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.PubMedCrossRefGoogle Scholar
  72. 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.Google Scholar
  73. 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.PubMedCrossRefGoogle Scholar
  74. 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.PubMedCrossRefGoogle Scholar
  75. 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.PubMedCrossRefGoogle Scholar
  76. 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.PubMedCrossRefGoogle Scholar
  77. 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
  78. 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.PubMedCrossRefGoogle Scholar
  79. 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.PubMedGoogle Scholar
  80. National Society of Genetic Counselors (2007). Scope of practice revised June 2007. Retrieved 7/20/09, from, June 2007
  81. 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.PubMedCrossRefGoogle Scholar
  82. Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009). An agenda for personalized medicine. Nature, 461(7265), 724–726.PubMedCrossRefGoogle Scholar
  83. 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
  84. 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.PubMedCrossRefGoogle Scholar
  85. Pagon, R. A. (2002). Genetic testing for disease susceptibilities: consequences for genetic counseling. Trends in Molecular Medicine, 8(6), 306–307.PubMedCrossRefGoogle Scholar
  86. Pearson, T. A., & Manolio, T. A. (2008). How to interpret a genome-wide association study. JAMA, 299(11), 1335–1344.Google Scholar
  87. 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.PubMedCrossRefGoogle Scholar
  88. 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
  89. 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.PubMedGoogle Scholar
  90. Qureshi, N., & Kai, J. (2005). Genomic medicine for underserved minority populations in family medicine. American Family Physician, 72(3), 386–387.PubMedGoogle Scholar
  91. 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.PubMedCrossRefGoogle Scholar
  92. 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.PubMedCrossRefGoogle Scholar
  93. 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.Google Scholar
  94. 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.PubMedCrossRefGoogle Scholar
  95. Reid, G., & Emery, J. (2006). Chronic disease prevention in general practice: applying the family history. Australian Family Physician, 35(11), 879–885.PubMedGoogle Scholar
  96. 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.PubMedCrossRefGoogle Scholar
  97. Saito, T., Nanri, S., & Saito, I. (2009). Reliability of family history of lifestyle-related diseases on questionnaire. Pediatrics International, 51(4), 514–519.PubMedCrossRefGoogle Scholar
  98. 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.CrossRefGoogle Scholar
  99. 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
  100. 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.PubMedCrossRefGoogle Scholar
  101. 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.CrossRefGoogle Scholar
  102. 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.PubMedCrossRefGoogle Scholar
  103. Scheuner, M. T. (2003). Genetic evaluation for coronary artery disease. Genetics in Medicine, 5(4), 269–285.PubMedCrossRefGoogle Scholar
  104. 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.PubMedCrossRefGoogle Scholar
  105. 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.PubMedCrossRefGoogle Scholar
  106. 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.PubMedCrossRefGoogle Scholar
  107. 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.PubMedCrossRefGoogle Scholar
  108. 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.PubMedCrossRefGoogle Scholar
  109. 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.CrossRefGoogle Scholar
  110. 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.PubMedCrossRefGoogle Scholar
  111. Smith, M., Freivogel, M. E., & Parrott, S. (2008). NSGC Professional Status Survey. Retrieved from
  112. 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.PubMedCrossRefGoogle Scholar
  113. 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.PubMedCrossRefGoogle Scholar
  114. Suther, S. G., & Goodson, P. (2004). Texas physicians’ perceptions of genomic medicine as an innovation. Clinical Genetics, 65(5), 368–377.PubMedCrossRefGoogle Scholar
  115. The Royal Australian College of General Practitioners. (2009). Guidelines for preventive activities in general practice (7th ed.). South Melbourne: RACGP.Google Scholar
  116. 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.PubMedCrossRefGoogle Scholar
  117. 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.PubMedCrossRefGoogle Scholar
  118. Trotter, T. L., & Martin, H. M. (2007). Family history in pediatric primary care. Pediatrics, 120(Suppl 2), S60–65.PubMedCrossRefGoogle Scholar
  119. U.S. Preventive Services Task Force (2008). AHRQ Publication No. 08–5122 Guide to clinical preventive services, 2008. Retrieved from
  120. US Department of Health and Human Services Public Health Service (2009). My family health portrait retrieved April, 2009, from
  121. 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 Google Scholar
  122. 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.PubMedCrossRefGoogle Scholar
  123. 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.PubMedCrossRefGoogle Scholar
  124. 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.PubMedCrossRefGoogle Scholar
  125. Wattendorf, D. J., & Hadley, D. W. (2005). Family history: the three-generation pedigree. American Family Physician, 72(3), 441–448.PubMedGoogle Scholar
  126. 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.PubMedCrossRefGoogle Scholar
  127. 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.PubMedCrossRefGoogle Scholar
  128. 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.PubMedCrossRefGoogle Scholar
  129. 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.PubMedCrossRefGoogle Scholar
  130. 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.PubMedCrossRefGoogle Scholar
  131. 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.PubMedCrossRefGoogle Scholar
  132. Woolf, S. H., & Stange, K. C. (2006). A sense of priorities for the healthcare commons. American Journal of Preventive Medicine, 31(1), 99–102.PubMedCrossRefGoogle Scholar
  133. 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.PubMedGoogle Scholar
  134. Ziogas, A., & Anton-Culver, H. (2003). Validation of family history data in cancer family registries. American Journal of Preventive Medicine, 24(2), 190–198.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2010

Authors and Affiliations

  1. 1.Duke Institute for Genome Sciences & PolicyDuke UniversityDurhamUSA
  2. 2.Illumina, IncSan DiegoUSA

Personalised recommendations