A grand challenge: Providing benefits of clinical genetics to those in need

Genetics in Medicine

Volumn 13, Issue 3, 2011, Pages 197-200

  Hawkins, Alice K ^a   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

access; genetics; Huntington disease; inequality

Indexed keywords

WARFARIN;

CANCER THERAPY; CLINICAL GENETICS; COST EFFECTIVENESS ANALYSIS; GENETIC SCREENING; GENETIC SERVICE; GENOTYPE; HEALTH CARE ACCESS; HEALTH CARE COST; HUMAN; HUNTINGTON CHOREA; MEDICAL EDUCATION; PRESCRIPTION; REVIEW; TELEMEDICINE;

GENETIC TESTING; GENETICS, MEDICAL; HEALTH SERVICES NEEDS AND DEMAND; HUMANS; POVERTY; RURAL POPULATION;

EID: 79952187018     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31820c056e     Document Type: Review

References (52)

1. Burke S, Martyn M, Stone A, Bennett C, Thomas H, Farndon P. Developing a curriculum statement based on clinical practice: genetics in primary care. Br J Gen Pract 2009;59:99-103.
2. Edwards J, Greenberg J, Sahhar M. Global awakening in genetic counseling. Available from Nature Proceedings: http://hdl.handle.net/10101/npre.2008. 1574.1. Accessed on January 11, 2011.
3. Washington State Dept. of Health, Genetic Services Policy Project Final Report 2008. Available at: http://depts.washington.edu/genpol/docs/AppD.pdf. Accessed February 15 2010.
4. NSGC. NSGC Professional Status Survey 2008, 2008. Available at: http://www. nsgc.org/-private-files/members-only/PSSsurveys/NSGCPSSReport2008 Final.doc. Accessed December 7, 2009.
5. d'Agincourt-Canning L. Genetic testing for hereditary cancer: challenges to ethical care in rural and remote communities. HEC Forum 2004;16:222-233. (Pubitemid 40543700)
6. Khoury M. Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med 2003;5:261.
7. Frueh F, Gurwitz D. From pharmacogenetics to personalized medicine: a vital need for educating health professionals and the community. Future Med 2004;5:571-579. (Pubitemid 39023073)
8. Brandt J, Quaid KA, Folstein SE, et al. Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease. JAMA 1989;261:3108.
9. Fox S, Bloch M, Fahy M, Hayden M. Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia. Am J Med Genet 1989;32:211-216. (Pubitemid 19079375)
10. Benjamin CM, Adam S, Wiggins S, et al. Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet 1994;55:606.
11. Went L. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994;31:555-559. (Pubitemid 24226403)
12. Creighton S, Almqvist EW, MacGregor D, et al. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet 2003;63:462-475. (Pubitemid 36944091)
13. Hayden MR. Predictive testing for Huntington's disease: the calm after the storm. Lancet 2000;356:1944-1945.
14. Codori AM, Brandt J. Psychological costs and benefits of predictive testing for Huntington's disease. Am J Med Genet 1994;54:174-184. (Pubitemid 24292178)
15. Decruyenaere M, Evers-Kiebooms G, Boogaerts A, et al. Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. BMJ 1996;33:737.
16. Wiggins S, Whyte P, Huggins M, et al. The psychological consequences of predictive testing for Huntington's disease. N Engl J Med 1992;327:1401-1405.
17. Evers-Kiebooms G, Decruyenaere M. Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals. Patient Educ Counsel 1998;35:15-26. (Pubitemid 29037810)
18. Kessler S. Predictive testing for Huntington disease: a psychologist's view. Am J Med Genet 1994;54:161-166. (Pubitemid 24292176)
19. Demyttenaere K, Evers-Kiebooms G, Decruyenaere M. Pitfalls in counseling for predictive testing in Huntington disease. Birth Defects Orig Artic Ser 1992;28:105.
20. Harper PS. The epidemiology of Huntington's disease. Hum Genet 1992; 89:365-376.
21. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health. 2009 information. Available at: http://www.ncbi. nlm.nih.gov/bookshelf/br.fcgi?book-gnd&part- huntingtondisease. Accessed November 30, 2009
22. Walker F. Huntington's disease. Lancet 2007;369:218-228. (Pubitemid 46107685)
23. Bonelli R, Wenning G, Kapfhammer H. Huntington's disease: present treatments and future therapeutic modalities. Int Clin Psychopharmacol 2004; 19:51.
24. Milnerwood A, Gladding C, Pouladi M, et al. Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease mice. Neuron 2010;65:178-190.
25. Okamoto S, Pouladi M, Talantova M, et al. Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. Nat Med 2009;15:1407-1413.
26. Tabrizi S, Langbehn D, Leavitt B, et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: crosssectional analysis of baseline data. Lancet Neurol 2009;8:791-801.
27. Collins FS, Green ED, Guttmacher AE, Guyer MS. Institute. UNHGR. A vision for the future of genomics research. Nature 2003;422:835-847. (Pubitemid 36520032)
28. Hunter D. Gene-environment interactions in human diseases. Nat Rev Genet 2005;6:287-298. (Pubitemid 40469048)
29. McCarthy M, Abecasis G, Cardon L, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008;9:356-369. (Pubitemid 351556063)
30. Knight J. Genetics and the general physician: insights, applications and future challenges. QJM 2009;102:757-772.
31. Lauerman J. Complete genomics drives down cost of genome sequence to $5,000. Bloomberg News. February 5, 2009.
32. Eckman M, Rosand J, Greenberg S, Gage B. Cost-effectiveness of using pharmacogenetic information in warfarin dosing for patients with nonvalvular atrial fibrillation. Ann Intern Med 2009;150:73.
33. Peter F, Evans T, Whitehead M, Diderichsen F, Bhuiya A, Wirth M, editors. Challenging inequities in health: from ethics to action. New York: Oxford University Press, 2001.
34. Sen A. Human rights and capabilities. Journal of Human Development 2005;2:151-166.
35. Alkire S, Chen L. Global health and moral values. Lancet 2004;364:1069-1074. (Pubitemid 39248667)
36. Ruger JP. Health and social justice. Lancet 2004;364:1075-1080. (Pubitemid 39248668)
37. Daniels N. Justice, health, and healthcare. Am J Bioethics 2001;1:2-16.
38. Williams-Jones B, Burgess M. Democratising access to genetic services. Fam Cancer 2006;5:117-121. (Pubitemid 43384326)
39. Starfield B. State of the art in research on equity in health. J Health Polit Policy Law 2006;31:11-32.
40. Casey M, Thiede C, Klingner J. Are rural residents less likely to obtain recommended preventive healthcare services? Am J Prev Med 2001;21:182.
41. Zhang P, Too G, Irwin K. Utilization of preventive medical services in the United States: a comparison between rural and urban populations. J Rural Health 2000;16:349-356. (Pubitemid 32164671)
42. Allin S. Does equity in healthcare use vary across Canadian provinces? Healthc Policy 2008;3:83-99.
43. Beauchamp T, Childress J. Principles of biomedical ethics, 4th ed. New York: Oxford University Press, 1994.
44. Whitehead M, Dahlgren G. Concepts and principles for tackling social inequities in health: levelling up part 1. Copenhagen: WHO, 2007.
45. Department of Justice. Canada Health Act 1985. Available at: http://laws. justice.gc.ca/en/C-6/index.html. Accessed November 30, 2009.
46. Barack Obama's plan for a healthy America: lowering health care costs and ensuring affordable, high-quality health care for all, 2009. Available at: http://www.barackobama.com/pdf/HealthPlanFull.pdf. Accessed November 3, 2010.
47. Ginsburg G, Willard H. Genomic and personalized medicine: foundations and applications. Transl Res 2009;154:277-287.
48. Woolf S. The meaning of translational research and why it matters. JAMA 2008;299:211.
49. Corbie-Smith G, Thomas S, St George D. Distrust, race, and research. Arch Intern Med 2002;162:2458.
50. Lerman C, Hughes C, Benkendorf J, et al. Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing. Cancer Epidemiol Biomarkers Prev 1999;8(suppl 1):361.
51. Coelho J, Arnold A, Nayler J, Tischkowitz M, MacKay J. An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations. Eur J Cancer 2005;41:2257-2261. (Pubitemid 41415601)
52. Baumanis L, Evans J, Callanan N, Susswein L. Telephoned BRCA1/2 genetic test results: prevalence, practice, and patient satisfaction. J Genet Counsel 2009;18:447-463.