Direct-to-consumer personal genome testing and cancer risk prediction

Cancer Journal (United States)

Volumn 18, Issue 4, 2012, Pages 293-302

  Bellcross, Cecelia A ^a   Page, Patricia Z ^a   Meaney Delman, Dana ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

cancer; direct to consumer; Genomic profiling; GWAS

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

AWARENESS; BEHAVIOR; BREAST BIOPSY; BREAST CANCER; BREAST CARCINOMA; CANCER PATIENT; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER THERAPY; CLINICAL PROTOCOL; COLORECTAL CANCER; CONSUMER; DIRECT TO CONSUMER GENETIC TESTING; DISEASE SEVERITY; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENOMICS; GENOTYPE; HEALTH CARE PERSONNEL; HEALTH CARE POLICY; HEALTH CARE UTILIZATION; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; HUMAN GENOME; MAMMOGRAPHY; MEDICAL HISTORY; OVARY CANCER; PERSONALIZED MEDICINE; PHYSICAL EXAMINATION; PRACTICE GUIDELINE; PREDICTIVE VALUE; PRIORITY JOURNAL; PROSTATE CANCER; PSYCHOLOGIC ASSESSMENT; PUBLIC HEALTH; REVIEW; RISK ASSESSMENT; RISK BENEFIT ANALYSIS; RISK FACTOR; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATIONAL RESEARCH;

CONSUMER PARTICIPATION; GENE EXPRESSION PROFILING; GENETIC COUNSELING; GENETIC TESTING; GENOME, HUMAN; GENOMICS; HUMANS; INDIVIDUALIZED MEDICINE; NEOPLASMS; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 84864594454     PISSN: 15289117     EISSN: 1540336X     Source Type: Journal    
DOI: 10.1097/PPO.0b013e3182610e38     Document Type: Review

References (97)

1. Genetics and Public Policy Center. Direct-to-Consumer by Disease,August 2011 Available at: Http://www.dnapolicy.org/resources/DTCAug2011by Diseasecategory.pdf. Accessed April 15, 2012.
2. 23andMe. Available at: Https://www.23andme.com/. Accessed April 15, 2012.
3. deCODE. Cancer Scan. Available at: Http://www.decodeme.com/cancerscan. Accessed April 15, 2012.
4. GenePlanet. Personal DNA Analysis. Available at: Http://www.geneplanet. com/your-personal-dna-analysis. Accessed April 15, 2012.
5. Accumetrics. Complete Genetic Scan. Available at: Http://www.accumetrics. com/complete-genetic-scan.php. Accessed April 15, 2012.
6. Map My Gene. Disease Susceptibility Gene Test. Available at: Http://www.mapmygene.com/product.htm. Accessed April 15, 2012.
7. Manolio T. Published GWA Reports, 2005-6/2011. Available at: Http://www.genome.gov/multimedia/illustrations/Published-GWA-Reports- 2005-June2011.pdf. Accessed April 15, 2012.
8. ACatalog of Published Genome-Wide Association Studies. Available at: Http://www.genome.gov/GWAStudies/. Accessed April 15, 2012.
9. Borry P, Cornel MC, Howard HC. Where are you going, where have you been: A recent history of the direct-to-consumer genetic testing market. J Community Genet. 2010;1:101-106.
10. Janssens AC, Gwinn M, Bradley LA, et al. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet. 2008;82: 593-599.
11. Magnus D, Cho MK, Cook-Deegan R. Direct-to-consumer genetic tests beyond medical regulation? Genome Med. 2009;1:17.
12. Eng C, Sharp RR. Bioethical and clinical dilemmas of direct-to-consumer personal genomic testing: The problem of misattributed equivalence. Sci Transl Med. 2010;2:17cm5.
13. Khoury MJ, McBride CM, Schully SD, et al. The Scientific Foundation for personal genomics: Recommendations from a National Institutes of HealthYCenters for Disease Control and Prevention multidisciplinary workshop. Genet Med. 2009;11:559-567.
14. Kraft P, Hunter DJ. Genetic risk predictionVare we there yet? N Engl J Med. 2009;360:1701-1703.
15. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747-753.
16. Janssens AC, van Duijn CM. An epidemiological perspective on the future of direct-to-consumer personal genome testing. Investig Genet. 2010;1
17. Ng PC, Murray SS, Levy S, et al. An agenda for personalized medicine. Nature. 2009;461:724-726.
18. Imai K, Kricka LJ, Fortina P. Concordance study of 3 direct-to-consumer genetic-testing services. Clin Chem. 2011;57:518-521.
19. Swan M. Multigenic condition risk assessment in direct-to-consumer genomic services. Genet Med. 2010;12:279-288.
20. Mihaescu R, van Hoek M, Sijbrands EJ, et al. Evaluation of risk prediction updates from commercial genome-wide scans. Genet Med. 2009; 11:588-594.
21. Singleton A, Erby LH, Foisie KV, et al. Informed choice in direct-toconsumer genetic testing (DTCGT) Websites: A content analysis of benefits, risks, and limitations. J Genet Couns. 2012;21:433-439.
22. Wacholder S, Hartge P, Prentice R, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med. 2010;362: 986-993.
23. Mealiffe ME, Stokowski RP, Rhees BK, et al. Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. J Natl Cancer Inst. 2010;102:1618-1627.
24. Zheng SL, Sun J, Wiklund F, et al. Cumulative association of five genetic variants with prostate cancer. N Engl J Med. 2008;358:910-919.
25. Field A, Krokosky A, Terry SF. Direct-to-consumer marketing of genetic tests: Access does not reflect clinical utility. Genet Test Mol Biomarkers. 2010;14:731-732.
26. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329-1333.
27. Kolor K, Liu T, St Pierre J, et al. Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genet Med. 2009;11, 595
28. Cherkas LF, Harris JM, Levinson E, et al. A survey of UK public interest in Internet-based personal genome testing. PLoS One. 2010;5 e13473.
29. Kolor K, Foland J, Anderson B, et al. Public awareness and use of directto- consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice. Genetics in Medicine. [In Press] 2012.
30. McGuire AL, Diaz CM, Wang T, et al. Social networkers' attitudes toward direct-to-consumer personal genome testing. Am J Bioeth. 2009;9:3-10.
31. McBride CM,Wade CH, Kaphingst KA. Consumers' views of direct-toconsumer genetic information. Annu Rev Genomics Hum Genet. 2010; 11:427-446.
32. 23andMe. Database Surpasses 100,000 Users. Available at https://www.23andme.com/about/press/23andme-database-100000k-users/. Accessed April 15, 2012.
33. Wright CF, Gregory-Jones S. Size of the direct-to-consumer genomic testing market. Genet Med. 2010;12:594.
34. The Multiplex Initiative. Available at: Http://www.multiplex.nih.gov/. Accessed April 15, 2012.
35. McBride CM, Koehly LM, Sanderson SC, et al. The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? Annu Rev Public Health. 2010;31:89-103.
36. McBride CM, Alford SH, Reid RJ, et al. Characteristics of users of online personalized genomic risk assessments: Implications for physician-patient interactions. Genet Med. 2009;11:582-587.
37. Sturm AC, Manickam K. Direct-to-consumer personal genomic testing: A case study and practical recommendations for ''genomic counseling''. J Genet Couns. 2012;21:402-412.
38. McGowan ML, Fishman JR, Lambrix MA. Personal genomics and individual identities: Motivations and moral imperatives of early users. New Genet Soc. 2010;29:261-290.
39. Su Y, Howard HC, Borry P. Users' motivations to purchase direct-toconsumer genome-wide testing: An exploratory study of personal stories. J Community Genet. 2011;2:135-146.
40. RahmAK,FeigelsonHS,WagnerN, et al.Perception of direct-to-consumer genetic testing and direct-to-consumer advertising of genetic tests among members of a large managed care organization. J Genet Couns. 2012;21:448-461.
41. Sanderson SC, O'Neill SC, Bastian LA, et al. What can interest tell us about uptake of genetic testing? Intention and behavior amongst smokers related to patients with lung cancer. Public Health Genomics. 2010;13: 116-124.
42. Langford AT, Resnicow K, Roberts JS, et al. Racial and ethnic differences in direct-to-consumer genetic tests awareness in HINTS 2007: Sociodemographic and numeracy correlates. J Genet Couns. 2012;21:440-447.
43. Bloss CS, Ornowski L, Silver E, et al. Consumer perceptions of directto- consumer personalized genomic risk assessments. Genet Med. 2010; 12:556-566.
44. Haga SB, Carrig MM, O'Daniel JM, et al. Genomic risk profiling: Attitudes and use in personal and clinical care of primary care physicians who offer risk profiling. J Gen Intern Med. 2011;26:834-840.
45. Myers MF, Chang MH, Jorgensen C, et al. Genetic testing for susceptibility to breast and ovarian cancer: Evaluating the impact of a direct-toconsumer marketing campaign on physicians' knowledge and practices. Genet Med. 2006;8:361-370.
46. Gordon ES, Griffin G,Wawak L, et al. ''It's not like judgment day'': Public understanding of and reactions to personalized genomic risk Information. J Genet Couns. 2012;21:423-432.
47. Gollust SE, Gordon ES, Zayac C, et al. Motivations and perceptions of early adopters of personalized genomics: Perspectives from research participants. Public Health Genomics. 2012;15:22-30.
48. Leighton JW, Valverde K, Bernhardt BA. The general public's understanding and perception of direct-to-consumer genetic test results. Public Health Genomics. 2012;15:11-21.
49. 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.
50. Kaufman DJ, Bollinger JM, Dvoskin RL, et al. Risky business: Risk perception and the use of medical services among customers of dtc personal genetic testing. J Genet Couns. 2012;21:413-422.
51. Marteau TM, French DP, Griffin SJ, et al. Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours. Cochrane Database Syst Rev. 2010:CD007275.
52. Giovanni MA, Fickie MR, Lehmann LS, et al. Health-care referrals from direct-to-consumer genetic testing. Genet Test Mol Biomarkers. 2010; 14:817-819.
53. Offit K. Genomic profiles for disease risk: Predictive or premature? JAMA. 2008;299:1353-1355.
54. Dohany L, Gustafson S, Ducaine W, et al. Psychological distress with direct-to-consumer genetic testing: A case report of an unexpected BRCA positive test result. J Genet Couns. 2012;21:399-401.
55. Levy DE, Youatt EJ, Shields AE. Primary care physicians' concerns about offering a genetic test to tailor smoking cessation treatment. Genet Med. 2007;9:842-849.
56. Freedman AN,Wideroff L, Olson L, et al. US physicians' attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A. 2003; 120A:63-71.
57. Powell KP, Christianson CA, Cogswell WA, et al. Educational needs of primary care physicians regarding direct-to-consumer genetic testing. J Genet Couns. 2012;21:469-478.
58. Scheuner MT, Sieverding P, Shekelle PG. Delivery of genomic medicine for common chronic adult diseases: A systematic review. JAMA. 2008; 299:1320-1334.
59. Powell KP, Cogswell WA, Christianson CA, et al. Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing. J Genet Couns. 2012;21:113-126.
60. O'Daniel JM, Haga SB, Willard HF. Considerations for the impact of personal genome information: A study of genomic profiling among genetics and genomics professionals. J Genet Couns. 2010;19:387-401.
61. Hock KT, Christensen KD, Yashar BM, et al. Direct-to-consumer genetic testing: An assessment of genetic counselors' knowledge and beliefs. Genet Med. 2011;13:325-332.
62. Brett GR, Metcalfe SA, Amor DJ, et al. An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice [published online ahead of print]. Eur J Hum Genet. 2012. doi: 10.1038/ejhg.2012.13
63. Udesky L. The ethics of direct-to-consumer genetic testing. Lancet. 2010;376:1377-1378.
64. Hogarth S, Javitt G, Melzer D. The current landscape for direct-toconsumer genetic testing: Legal, ethical, and policy issues. Annu Rev Genomics Hum Genet. 2008;9:161-182.
65. Hawkins AK, Ho A. Genetic counseling and the ethical issues around direct to consumer genetic testing. J Genet Couns. 2012;21:367-373.
66. Gollust SE, Wilfond BS, Hull SC. Direct-to-consumer sales of genetic services on the Internet. Genet Med. 2003;5:332-337.
67. Mykitiuk R. Caveat emptor: Direct-to-consumer supply and advertising of genetic testing. Clin Invest Med. 2004;27:23-32.
68. Annes JP, Giovanni MA, Murray MF. Risks of presymptomatic directto- consumer genetic testing. N Engl J Med. 2010;363:1100-1101.
69. Caulfield T, Ries NM, Ray PN, et al. Direct-to-consumer genetic testing: Good, bad or benign? Clin Genet. 2010;77:101-105.
70. McGuire AL, Evans BJ, Caulfield T, et al. Science and regulation. Regulating direct-to-consumer personal genome testing. Science. 2010;330: 181-182.
71. Samuel GN, Jordens CF, Kerridge I. Direct-to-consumer personal genome testing: Ethical and regulatory issues that arise from wanting to 'know' your DNA. Intern Med J. 2010;40:220-224.
72. Howard HC, Avard D, Borry P. Are the kids really all right? Directto- consumer genetic testing in children: Are company policies clashing with professional norms? Eur J Hum Genet. 2011;19:1122-1126.
73. Caulfield T, McGuire AL. Direct-to-consumer genetic testing: Perceptions, problems, and policy responses. Annu Rev Med. 2012;63:23-33.
74. Lachance CR, Erby LAH, Ford BM, et al. Informational content, literacy demands, and usability of Websites offering health-related genetic tests directly to consumers. Genet Med. 2010;12:304-312.
75. Skirton H, Goldsmith L, Jackson L, et al. Direct to consumer genetic testing: A systematic review of position statements, policies and recommendations [published online ahead of print]. Clin Genet. 2012 doi: 10.1111/j.1399-0004.2012.01863.x. 76. Hudson K, Burke W, Byers, P. ASHG statement on direct-to-consumer genetic testing in the United States. Am J Hum Genet. 2007;81:635-637.
76. American College of Medical Genetics (ACMG) statement on directto- consumer genetic testing. April 7, 2008. Available at http://www.acmg. net/AM/Template.cfm?Section=Policy-Statements&Template=/CM/ContentDisplay. cfm&ContentID=2975. Accessed April 15, 2012.
77. HumanGeneticsComission.Acommon framework of principles for directto- consumer genetic testing services. Available at http://www.hgc. gov.uk/UploadDocs/DocPub/Document/HGC%20Principles%20for %20DTC%20genetic%20tests%20-%20final.pdf. Accessed April 15, 2012.
78. Statement of the European Society of Human Genetics on direct-toconsumer genetic testing for health-related purposes. Eur J Hum Genet. 2010;18:1271-1273.
79. National Society of Genetic Counselors statement on direct-to-consumer genetic testing. Adopted 2007, Revised 2011. Available at http://www. nsgc.org/Advocacy/PositionStatements/tabid/107/Default.aspx#DTC. Accessed April 15, 2012.
80. Secretary's Advisory Committee on Genetics Health and Society. Directto- consumer genetic testing. Available at: Http://oba.od.nih.gov/SACGHS/sacghs- documents.html. Accessed April 15, 2012.
81. US House of Representatives Committee on Energy and Commerce. Hearing on ''Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.'' Available at: Http://democrats.energycommerce. house.gov/index.php?q= hearing/hearing-on-direct-to-consumer-genetictesting- and-the-consequences-to- the-public-health. Accessed April 15, 2012.
82. US Government Accountability Office. Direct-to-Consumer Genetic Tests: MisleadingTest Results Are Further Complicated by DeceptiveMarketing and Other Questionable Practices.Available at: Http://www.gao.gov/new.items/d10847t.pdf. Accessed April 15, 2012.
83. AMA Press Release February 23, 2011. AMA to FDA: Genetic testing should be conducted by qualified health professionals. Available at: Http://www.ama-assn.org/ama/pub/news/news/genetic-testing- qualifiedprofessionals. page. Accessed April 15, 2012.
84. Myers MF, Bernhardt BA. Direct-to-consumer genetic testing: Introduction to the special issue. J Genet Couns. 2012;21:357-360.
85. Wagner JK. Understanding FDA regulation of DTC genetic tests within the context of administrative law. Am J Hum Genet. 2010;87:451-456.
86. Borry P, van Hellemondt RE, Sprumont D, et al. Legislation on directto- consumer genetic testing in seven European countries. Eur J Hum Genet. 2012;20:715-721.
87. Green RC, Roberts JS, Cupples LA, et al. Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med. 2009;361:245-254.
88. Field A, Krokosky A, Terry SF. Answering the hard questions: The Genetic Testing Registry and its request for information. Genet Test Mol Biomarkers. 2011;15:1-2.
89. Albuquerque W, Horn EJ, Terry SF. Beast of burden? Comments on the NIH Genetic Testing Registry. Genet Test Mol Biomarkers. 2012;16: 155-156.
90. Howard HC, Borry P. Is there a doctor in the house?: The presence of physicians in the direct-to-consumer genetic testing context. J Community Genet. 2012;3:105-112.
91. The Genetic Testing Laboratories, Inc. DNA Predisposition Testing. Available at
92. Hesse BW, Arora NK, Khoury MJ. Implications of Internet availability of genomic information for public health practice. Public Health Genomics. 2012;15:201-208.
93. McGuire AL, BurkeW. An unwelcome side effect of direct-to-consumer personal genome testing: Raiding the medical commons. JAMA. 2008; 300:2669-2671.
94. Hall MJ, Olopade OI. Disparities in genetic testing: Thinking outside the BRCA box. J Clin Oncol. 2006;24:2197-2203.
95. National Human Genome Research Institute. DNA Sequencing Costs Data From the NHGRI Large-Scale Genome Sequencing Program. Available at: Http://www.genome.gov/sequencingcosts/. Accessed March 29, 2012.
96. DeFrancesco L. Life technologies promises the 1,000 genome. Nat Biotech. 2012;30:126.
97. Ormond KE, Wheeler MT, Hudgins L, et al. Challenges in the clinical application of whole-genome sequencing. Lancet. 2010;375:1749-1751.