The emerging role of primary care in genetics

Current Opinion in Pediatrics

Volumn 20, Issue 6, 2008, Pages 634-638

  Lose, Edward J ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Family history; Genomic medicine; Personalized medicine; Primary care

Indexed keywords

CLINICAL EVALUATION; DIAGNOSTIC TEST; GENETICS; HUMAN; PATIENT CARE; PEDIATRICIAN; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; REVIEW; VIGNETTE;

CHILD; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC RESEARCH; HUMANS; PEDIATRICS; PRIMARY HEALTH CARE;

EID: 57149084495     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e328318c514     Document Type: Review

References (27)

1. Benkendorf JL. Testimony before the Secretary's Advisory Committee on Genetics Health and Society on November 20, 2007. http://www.webconferences.com/ nihsacghs/20_nov_2007.html. [Accessed 1 July 2008].
2. Cheng TL, Cohn RD, Dover GJ. The genetics revolution and primary care pediatrics. JAMA 2008; 299:451-453.
3. Feero WG. Genetics of common disease: a primary care priority aligned with a teachable moment? Genet Med 2008; 10:81-82.
4. Beaulieu M, Jobin G, Kugler M, et al. When is knowledge ripe for primary care? Eval Health Prof 2008; 31:22-42.
5. Department of Health and Human Services, Secretary's Advisory Committee on Genetic Testing. Request for public comment on a proposed classification methodology for determining level of review for genetic tests. Fed Reg 2000; 65:76643-76645. http://www.cdc.gov/genomics/gTesting/ACCE.htm. [Accessed 1 July 2008].
6. Boudreau JD, Cassell EJ, Fuks A. A healing curriculum. Med Educ 2007; 41:1193-1201. This article outlines the goals and the reason for changing to a patient-driven model of medical education.
7. Gammon A, Kohlmann W, Burt R. Can we identify the high-risk patients to be screen? A genetic approach. Digestion 2007; 76:7-19.
8. Murff HJ, Greevy RA, Syngal S. The comprehensiveness of family cancer history assessments in primary care. Community Genet 2007; 10:174-180.
9. Hecht F. Familial cancer syndromes: catalog with comments. Cytogenet Genome Res 2007; 118:222-228. An excellent collection, tabulation and commentary about familial cancer. Although more relevant to physicians treating adults, it gives the pediatrician information regarding these inherited conditions.
10. Trotter TL, Martin HM. Family history in pediatric primary care. Pediatrics 2007; 120 (Suppl 2):S60-S65.
11. Fisk Green R. Summary of workgroup meeting on use of family history information in pediatric primary care and public health. Pediatrics 2007; 120:887-8100. A practical guide to the collection and documentation of the family history.
12. Chen M, Holt CL, Lose EJ, Robin NH. The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay. Am J Med Genet 2008; 146A:421-425. This article discusses the need of a genetic evaluation, the opinion of the general pediatrician about its utility and the barriers preventing the evaluation.
13. Moeschler JB. Genetic evaluation of intellectual disabilities. Semin Ped Neural 2008; 15:2-9. An update of the recommended evaluation of a child with developmental delay.
14. Centers for Disease Control and Prevention, National Center for Health Statistics. Health, United States, 2007; 2007.
15. Stutzmann F, Vatin V, Cauchi S, et al. Nonsynonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Human Mol Genet 2007; 16:1837-1844.
16. Young EH, Wareham NJ, Farooqi S, et al. The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29563 individuals. Int J Obes 2007; 31:1437-1441.
17. Fraying TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007; 316:889-894.
18. Li S, Loos RJF. Progress in the genetics of common obesity: size matters. Curr Opin Lipidol 2008; 19:113-121. An excellent article regarding the bedside to bench to bedside strategy of disease diagnosis and treatment. This article is particularly relevant to pediatricians given the rates of childhood obesity.
19. Sahoo T, del Gaudio D, German JR, et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85C/D small nucleolar RNA cluster. Nat Genet 2008; 40:719-721.
20. Cerrato F, Sparago A, Verde G, et al. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Human Mol Genet 2008; 17:1427-1435.
21. Kaiser J. Departing U.S. Genome Institute Director takes stock of personalized medicine Francis Collins interview. Science 2008; 320:1272.
22. McCabe LL, McCabe ERB. Expanded newborn screening: implications for genomic medicine. Annu Rev Med 2008; 59:163-175. This article links the genetic testing done routinely today with the promises of personalized genomic medicine.
23. Warrior MR, Hershey GK. Asthma genetics: personalizing medicine. J Asthma 2008; 45:257-264. This article provides an overview of how the application of genomic medicine will make a difference in a very common pediatric disease.
24. Scheuner MT, Sieverding P, Shekelle P. Delivery of genomic medicine for common chronic adult diseases. JAMA 2008; 299:1320-1333. A detailed discussion about the controversies, concerns, and application of genomic medicine. A recommended reading for all physicians.
25. Braun MS, Richman SD, Quirke P, et al. Predictive biomarkers of chemotherapy efficacy in colorectal cancer: results from the UK MRC FOCUS trial. J Clin Oncol 2008; 26:2690-2698.
26. Klein ML, Francis PJ, Rosner B, et al. CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology 2008; 115:1019-1025.
27. Zerhouni E. A vision for transforming medicine in the 21st century, http://www.nih.gov/about/director/slides/vision.pdf. 2006. [Accessed 1 July 2008].