Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review

Clinical and Experimental Ophthalmology

Volumn 43, Issue 6, 2015, Pages 578-590

  Sanfilippo, Paul G ^a   Kearns, Lisa S ^a   Wright, Philip ^b,d   Mackey, David A ^b,c   Hewitt, Alex W ^a,b,c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF TASMANIA   (Australia)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

Direct to consumer; DTC; Eye disease; Genetic testing; Ophthalmology

Indexed keywords

AGE RELATED MACULAR DEGENERATION; CONSUMER; COST BENEFIT ANALYSIS; DIAGNOSTIC ACCURACY; DIRECT TO CONSUMER GENETIC TESTING; GENE SEQUENCE; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SERVICE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEALTH CARE DELIVERY; HUMAN; INDUSTRY; MEDICAL ETHICS; OPHTHALMOLOGY; REVIEW; WHOLE GENOME SEQUENCING; ETHICS; EYE DISEASE; HEALTH CARE POLICY; INFORMED CONSENT; LEGISLATION AND JURISPRUDENCE; MEDICAL RESEARCH; ORGANIZATION AND MANAGEMENT; SCREENING TEST; STANDARDS;

BIOMEDICAL RESEARCH; DIRECT-TO-CONSUMER SCREENING AND TESTING; EYE DISEASES, HEREDITARY; GENETIC TESTING; HEALTH POLICY; HUMANS; INFORMED CONSENT; OPHTHALMOLOGY;

EID: 84938199624     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/ceo.12508     Document Type: Review

References (21)

1. Sheridan C. Illumina claims $1000 genome win. Nat Biotechnol 2014; 32: 115.
2. Li X, Quigg RJ, Zhou J, Gu W, Nagesh Rao P, Reed EF. Clinical utility of microarrays: current status, existing challenges and future outlook. Curr Genomics 2008; 9: 466-474.
3. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963; 32: 338-343.
4. Janssens AC, van Duijn CM. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet 2008; 17: R166-173.
5. Ledley F. A consumer charter for genomic services. Nat Biotechnol 2002; 20: 767.
6. Haddow JE, Palomaki GE. ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W, eds. Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. New York: Oxford University Press, 2003; 217-233.
7. Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature 2009; 461: 724-726.
8. Matloff E, Caplan A. Direct to confusion: lessons learned from marketing BRCA testing. Am J Bioeth 2008; 8: 5-8.
9. Berg C, Fryer-Edwards K. The ethical challenges of direct-to-consumer genetic testing. J Bus Ethics 2008; 77: 17-31.
10. Francke U, Dijamco C, Kiefer AK etal. Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. PeerJ 2013; 1: e8.
11. Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med 2011; 364: 524-534.
12. Harris A, Kelly SE, Wyatt S. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. J Genet Couns 2013; 22: 277-288.
13. Hawkins AK, Ho A. Genetic counseling and the ethical issues around direct to consumer genetic testing. J Genet Couns 2012; 21: 367-373.
14. Dandara C, Greenberg J, Lambie L etal. Direct-to-consumer genetic testing: to test or not to test, that is the question. S Afr Med J 2013; 103: 510-512.
15. Duncan RE, Savulescu J, Gillam L, Williamson R, Delatycki MB. An international survey of predictive genetic testing in children for adult onset conditions. Genet Med 2005; 7: 390-396.
16. Hall MA, McEwen JE, Barton JC etal. Concerns in a primary care population about genetic discrimination by insurers. Genet Med 2005; 7: 311-316.
17. New guidelines for genetic tests are welcome but insufficient. Lancet 2010; 376: 488.
18. Stone EM, Aldave AJ, Drack AV etal. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology 2012; 119: 2408-2410.
19. Sorensen K, Van den Broucke S, Fullam J etal. Health literacy and public health: a systematic review and integration of definitions and models. BMC Public Health 2012; 12: 80.
20. Gunning R. The Technique of Clear Writing. New York: McGraw-Hill, 1952.
21. Lachance CR, Erby LA, Ford BM, Allen VC Jr, Kaphingst KA. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genetics in medicine: official journal of the American College of Medical Genetics 2010; 12: 304-312.