Abstract
This chapter will serve as an initial introduction to genomic medicine for the family medicine physician. Historically, family medicine physicians have recognized and managed many common genetic syndromes such as Trisomy 21, Klinefelter’s syndrome, Neurofibromatosis, and Huntington’s chorea which exist in the population. In the current era of molecular and genomic medicine, there are an ever increasing set of competencies to adequately assess, interpret, and counsel our patients regarding their genetic contributions to the detection, prevention, and management of disease. Family physicians have an increasing responsibility to be able to accurately assess genetic familial risk, provide guidance in a vast array of genetic health care choices including prenatal testing, cancer risk assessment and intervention, medication choices based on genetically determined variations in metabolism and the exponentially increasing numbers of clinical and direct to consumer genetic testing available. The goal is that this genetic data is then integrated into personalized medicine plans for chronic disease prevention.
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References
Kinney AY, DeVellis BM, Skrzynia C, Millikan R. Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relatives. Cancer. 2001;91(1):57–65.
Martin JR, Wilikofsky AS. Integrating genetic counseling into family medicine. Am Fam Physician. 2005;72(12):2444, 2446.
Marchant GE, Lindor RA. Personalized medicine and genetic malpractice. Genet Med. 2013;15(12):921–2.
American Academy of Family Practice. Recommended curriculum guidelines for family medicine residents: medical genetics [Internet]. 2012 [updated 2012 June; cited 2015 Jan]. Available from: http://www.aafp.org/dam/AAFP/documents/medical_education_residency/program_directors/Reprint258_Genetics.pdf
American Academy of Pediatrics: Genetics in Primary Care Institute [Internet] [updated 2015; cited 2015 Jan]. Available from: http://www.geneticsinprimarycare.org
National Institutes of Health: National Human Genome Research Institute [Internet] 2015 [cited 2015 Jan]. Available from: https://www.genome.gov
Genetic Alliance Inc [Internet] 2015 [cited 2015 Jan]. Available from: http://www.geneticalliance.org
Wattendorf DJ, Hadley DW. Family history: the three-generation pedigree. Am Fam Physician. 2005;72(3):441–8.
Solomon BD, Muenke M. When to suspect a genetic syndrome. Am Fam Physician. 2012;86(9):826–33.
Genetic Disease Foundation [Internet] 2010 [cited 2015 Jan]. Available from: http://www.geneticdiseasefoundation.org
National Newborn Screening & Global Resource Center [Internet] 2012–2013 [updated 2014 Nov; cited 2015 Jan]. Available from: http://genes-r-us.uthscsa.edu
Jewish Genetic Disease Consortium [Internet] 2015 [cited 2015 Jan]. Available from: http://www.jewishgeneticdiseases.org
Genetics & Public Policy Center [Internet] 2010 [cited 2015 Jan]. Available from: http://www.dnapolicy.org
International Society of Genetic Genealogy [Internet] 2005–2012 [cited 2015 Jan]. Available from: http://www.isogg.org
Su P. Direct-to-consumer genetic testing: a comprehensive view. Yale J Biol Med. 2013;86(3):359–65.
Frosst P, Wattendorf DJ. At-home genetic tests. Am Fam Physician. 2006;73(3):540–1.
Genetics Home Reference [Internet] 2015 [updated 2015 Jan; cited 2015 Jan]. Available at: http://ghr.nlm.nih.gov/handbook/genomicresearch/pharmacogenomics
American Medical Association: Pharmacogenomics [Internet] 1995–2015 [cited 2015 Jan]. Available from: http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/current-topics/pharmacogenomics.page
Belle DJ, Singh H. Genetic factors in drug metabolism. Am Fam Physician. 2008;77(11):1553–60. Review.
National Institutes of Health: National Cancer Institute [Internet] 2015 [cited 2015 Jan]. Available from: http://www.cancer.gov
National Comprehensive Cancer Network [Internet] 2015 [cited 2015 Jan]. Available from: http://www.nccn.org
Simmons D. Epigenetic influences and disease. Nat Educ. 2008;1(1):6.
Egger G, Liang G, Aparicio A, Jones PA. Epigenetics in human disease and prospects for epigenetic therapy. Nature. 2004;429(6990):457–63. Review.
Pagon RA. Genetic testing: when to test, when to refer. Am Fam Physician. 2005;72(1):33–4.
White MT, Callif-Daley F, Donnelly J. Genetic testing for disease susceptibility: social, ethical and legal issues for family physicians. Am Fam Physician. 1999;60(3):748, 750, 755, 757–8.
Moeschler JB. Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol. 2008;15(1):2–9. doi:10.1016/j.spen.2008.01.002. Review.
Moeschler JB. Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability. Curr Opin Neurol. 2008;21(2):117–22. doi:10.1097/WCO.0b013e3282f82c2d. Review.
National Coalition for Health Professional Education in Genetics [Internet] 2015 [cited 2015 Jan]. Available from: http://www.nchpeg.org
U.S. Department of Health and Human Services [Internet] 2015 [cited 2015 Jan]. Available from: http://www.hhs.gov/ocr/privacy/hipaa/understanding/special/genetic/
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© 2015 Springer International Publishing Switzerland
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Massart, M.B. (2015). Genetic Disorders. In: Paulman, P., Taylor, R. (eds) Family Medicine. Springer, Cham. https://doi.org/10.1007/978-1-4939-0779-3_16-1
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DOI: https://doi.org/10.1007/978-1-4939-0779-3_16-1
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Genetic Disorders- Published:
- 20 August 2020
DOI: https://doi.org/10.1007/978-1-4939-0779-3_16-2
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Genetic Disorders- Published:
- 03 September 2015
DOI: https://doi.org/10.1007/978-1-4939-0779-3_16-1