The Prospect of Genome-guided Preventive Medicine: A Need and Opportunity for Genetic Counselors
- 438 Downloads
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.
KeywordsGenetic 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.
- ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome (2009). Obstetrics & Gynecology, 113(4), 957–966.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.
- 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.PubMedCrossRefGoogle Scholar
- Biderman, J. (2005). Attention-deficit/Hyperactivy disorder: a selcetive overview. Biological Psychiatry, 57, 1215–1220.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.PubMedCrossRefGoogle 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.PubMedCrossRefGoogle 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.PubMedCrossRefGoogle 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.PubMedCrossRefGoogle 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.PubMedCrossRefGoogle 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
- 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
- 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.PubMedCrossRefGoogle 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
- 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
- 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
- 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
- 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
- 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.PubMedCrossRefGoogle 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
- Pearson, T. A., & Manolio, T. A. (2008). How to interpret a genome-wide association study. JAMA, 299(11), 1335–1344.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
- 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
- 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
- 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
- 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
- Smith, M., Freivogel, M. E., & Parrott, S. (2008). NSGC Professional Status Survey. Retrieved from http://www.nsgc.org/members_only/PSS/.
- The Royal Australian College of General Practitioners. (2009). Guidelines for preventive activities in general practice (7th ed.). South Melbourne: RACGP.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 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.PubMedCrossRefGoogle Scholar