1932

Abstract

Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk.

Keyword(s): ethicsgeneticspolicyprivacyregulation
Loading

Article metrics loading...

/content/journals/10.1146/annurev-med-070119-114727
2021-01-27
2024-04-16
Loading full text...

Full text loading...

/deliver/fulltext/med/72/1/annurev-med-070119-114727.html?itemId=/content/journals/10.1146/annurev-med-070119-114727&mimeType=html&fmt=ahah

Literature Cited

  1. 1. 
    Regalado A. 2019. More than 26 million people have taken an at-home ancestry test. MIT Technol. Rev Feb. 11. https://www.technologyreview.com/2019/02/11/103446/more-than-26-million-people-have-taken-an-at-home-ancestry-test/
    [Google Scholar]
  2. 2. 
    Khan R, Mittelman D. 2018. Consumer genomics will change your life, whether you get tested or not. Genome Biol 19:120
    [Google Scholar]
  3. 3. 
    Farr C. 2020. Consumer DNA testing hits a rough patch: Here's how companies like Ancestry and 23andMe can survive. CNBC Feb. 9. https://www.cnbc.com/2020/02/07/how-dna-testing-companies-like-ancestry-and-23andme-can-survive.html
    [Google Scholar]
  4. 4. 
    Caulfield T, McGuire AL. 2012. Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annu. Rev. Med. 63:23–33
    [Google Scholar]
  5. 5. 
    23andMe Media Center 2020. About us. 23andMe https://mediacenter.23andme.com/company/about-us/
    [Google Scholar]
  6. 6. 
    Spector-Bagdady K, Pike ER. 2014. Consuming genomics: regulating direct-to-consumer genetic and genomic information. Neb. Law Rev. 92:70
    [Google Scholar]
  7. 7. 
    Allyse MA, Robinson DH, Ferber MJ et al. 2018. Direct-to-consumer testing 2.0: emerging models of direct-to-consumer genetic testing. Mayo Clin. Proc. 93:1113–20
    [Google Scholar]
  8. 8. 
    Regalado A. 2019. 23andMe thinks polygenic risk scores are ready for the masses, but experts aren't so sure. MIT Technol. Rev. Mar. 8. https://www.technologyreview.com/2019/03/08/136730/23andme-thinks-polygenic-risk-scores-are-ready-for-the-masses-but-experts-arent-so-sure/
    [Google Scholar]
  9. 9. 
    Clayton EW. 2020. Be ready to talk with parents about direct-to-consumer genetic testing. JAMA Pediatr 174:2117
    [Google Scholar]
  10. 10. 
    Herper M. 2019. Ancestry launches consumer genetics tests for health, intensifying rivalry with 23andMe. Stat News Oct 15: https://www.statnews.com/2019/10/15/ancestry-health-launch
    [Google Scholar]
  11. 11. 
    Molteni M. 2018. Now you can sequence your whole genome for just $200. Wired Nov. 19. https://www.wired.com/story/whole-genome-sequencing-cost-200-dollars/
    [Google Scholar]
  12. 12. 
    Phillips KA, Trosman JR, Douglas MP 2019. Emergence of hybrid models of genetic testing beyond direct-to-consumer or traditional labs. JAMA 321:242403–4
    [Google Scholar]
  13. 13. 
    Singer N. 2018. Employees jump at genetic testing. Is that a good thing?. N. Y. Times Apr. 15. https://www.nytimes.com/2018/04/15/technology/genetic-testing-employee-benefit.html
    [Google Scholar]
  14. 14. 
    Regalado A. 2020. Is the consumer genetics fad over. MIT Technol. Rev. Jan. 23. https://www.technologyreview.com/2020/01/23/276092/is-the-consumer-genetics-fad-over/
    [Google Scholar]
  15. 15. 
    Natl. Acad. Sci. Eng. Med 2020. Exploring the Current Landscape of Consumer Genomics: Proceedings of a Workshop Washington, DC: Natl. Acad. Press https://www.nationalacademies.org/our-work/exploring-the-current-landscape-of-consumer-genomics-a-workshop
  16. 16. 
    Kilbride MK, Bradbury AR. 2020. The need to improve the clinical utility of direct-to-consumer genetic tests: either too narrow or too broad. JAMA 323:151443–44
    [Google Scholar]
  17. 17. 
    FDA 2019. Direct-to-consumer tests. US Food & Drug Administration https://www.fda.gov/medical-devices/vitro-diagnostics/direct-consumer-tests
    [Google Scholar]
  18. 18. 
    FDA 2019. General wellness: policy for low risk devices Guidance Document, Sep. 26 US Food & Drug Admin Washington, DC: https://www.fda.gov/regulatory-information/search-fda-guidance-documents/general-wellness-policy-low-risk-devices
  19. 19. 
    Gill J, Obley AJ, Prasad V 2018. Direct-to-consumer genetic testing: the implications of the US FDA's first marketing authorization for BRCA mutation testing. JAMA 319:232377–78
    [Google Scholar]
  20. 20. 
    FDA 2018. Evaluation of automatic Class III designation for the 23andMe Personal Genome Service (PGS) genetic health risk report for BRCA1/BRCA2 (selected variants) Decision Summary, US Food & Drug Admin Washington, DC: https://www.accessdata.fda.gov/cdrh_docs/reviews/DEN170046.pdf
  21. 21. 
    FDA 2017. Evaluation of automatic Class III designation for the 23andMe Personal Genome Service (PGS) genetic health risk test for hereditary thrombophilia, alpha-1 antitrypsin deficiency, Alzheimer's disease, Parkinson's disease, Gaucher disease type 1, factor XI deficiency, celiac disease, G6PD deficiency, hereditary hemochromatosis and early-onset primary dystonia Decision Summary, US Food & Drug Admin Washington, DC: https://www.accessdata.fda.gov/cdrh_docs/reviews/DEN160026.pdf
  22. 22. 
    Stein R. 2018. Results of at-home genetic tests for health can be hard to interpret. Shots: Health News from NPR June 18. https://www.npr.org/sections/health-shots/2018/06/18/609750963/results-of-at-home-genetic-tests-for-health-can-be-hard-to-interpret
    [Google Scholar]
  23. 23. 
    Tandy-Connor S, Guiltinan J, Krempely K et al. 2018. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet. Med. 20:121515–21
    [Google Scholar]
  24. 24. 
    Kilbride MK, Domchek SM, Bradbury AR 2018. Ethical implications of direct-to-consumer hereditary cancer tests. JAMA Oncol 4:101327–28
    [Google Scholar]
  25. 25. 
    Torkamani A, Wineinger NE, Topol EJ 2018. The personal and clinical utility of polygenic risk scores. Nat. Rev. Genet. 19:9581–90
    [Google Scholar]
  26. 26. 
    Dick H. 2012. Risk and responsibility: state regulation and enforcement of the direct-to-consumer genetic testing industry. St. Louis Univ. J. Health Law Policy 6:167–200
    [Google Scholar]
  27. 27. 
    Assoc. Mol. Pathol 2019. Association for Molecular Pathology position statement: consumer genomic testingJune 2019 Position Statement, Assoc. Mol. Pathol Rockville, MD: https://www.amp.org/AMP/assets/File/position-statements/2019/AMP_Position_Statement_Consumer_Genomics_FINAL.pdf?pass=36
    [Google Scholar]
  28. 28. 
    Gollust SE, Gray SW, Carere DA et al. 2017. Consumer perspectives on access to direct-to-consumer genetic testing: role of demographic factors and the testing experience. Milbank Q 95:2291–318
    [Google Scholar]
  29. 29. 
    Bollinger JM, Green RC, Kaufman D 2013. Attitudes about regulation among direct-to-consumer genetic testing customers. Genet. Test. Mol. Biomarkers 17:5424–28
    [Google Scholar]
  30. 30. 
    Covolo L, Rubinelli S, Ceretti E et al. 2015. Internet-based direct-to-consumer genetic testing: a systematic review. J. Med. Internet Res. 17:12e279
    [Google Scholar]
  31. 31. 
    Roberts JS, Gornick MC, Carere DA et al. 2017. Direct-to-consumer genetic testing: user motivations, decision making, and perceived utility of results. Public Health Genom 20:136–45
    [Google Scholar]
  32. 32. 
    Bloss CS, Schork NJ, Topol EJ 2011. Effect of direct-to-consumer genomewide profiling to assess disease risk. N. Engl. J. Med. 364:6524–34
    [Google Scholar]
  33. 33. 
    Broady KM, Ormond KE, Topol EJ et al. 2018. Predictors of adverse psychological experiences surrounding genome-wide profiling for disease risk. J. Community Genet. 9:3217–25
    [Google Scholar]
  34. 34. 
    Parens E, Appelbaum P. 2019. On what we have learned and still need to learn about the psychosocial impacts of genetic testing. Hastings Cent. Rep. 49:S2–S9
    [Google Scholar]
  35. 35. 
    Lebowitz MS. 2019. The implications of genetic and other biological explanations for thinking about mental disorders. Hastings Cent. Rep. 49:S1S82–S87
    [Google Scholar]
  36. 36. 
    Lebowitz MS, Ahn W-K. 2018. Blue genes? Understanding and mitigating negative consequences of personalized information about genetic risk for depression. J. Genet. Couns. 27:1204–16
    [Google Scholar]
  37. 37. 
    Turnwald BP, Goyer JP, Boles DZ et al. 2019. Learning one's genetic risk changes physiology independent of actual genetic risk. Nat. Hum. Behav. 3:148–56
    [Google Scholar]
  38. 38. 
    Nielsen DE, Carere DA, Wang C et al. 2017. Diet and exercise changes following direct-to-consumer personal genomic testing. BMC Med. Genom. 10:24
    [Google Scholar]
  39. 39. 
    Christensen KD, Vassy JL, Jamal L et al. 2016. Are physicians prepared for whole genome sequencing? A qualitative analysis. Clin. Genet. 89:2228–34
    [Google Scholar]
  40. 40. 
    Vassy JL, Christensen KD, Schonman EF et al. 2017. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann. Intern. Med. 167:3159
    [Google Scholar]
  41. 41. 
    Kilbride MK, Joffe S. 2018. The new age of patient autonomy: implications for the patient-physician relationship. JAMA 320:191973–74
    [Google Scholar]
  42. 42. 
    van der Wouden CH, Carere DA, Maitland-van der Zee AH et al. 2016. Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Ann. Intern. Med. 164:8513–22
    [Google Scholar]
  43. 43. 
    Koeller DR, Uhlmann WR, Carere DA et al. 2017. Utilization of genetic counseling after direct-to-consumer genetic testing: findings from the Impact of Personal Genomics (PGen) Study. J. Genet. Couns. 26:61270–79
    [Google Scholar]
  44. 44. 
    Gray SW, Gollust SE, Carere DA et al. 2017. Personal genomic testing for cancer risk: results from the Impact of Personal Genomics Study. J. Clin. Oncol. 35:6636–44
    [Google Scholar]
  45. 45. 
    CDC 2019. Tier 1 genomics applications and their importance to public health. Office of Genomics & Precision Public Health, Centers for Disease Control and Prevention https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
    [Google Scholar]
  46. 46. 
    Carere DA, VanderWeele TJ, Vassy JL et al. 2017. Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study. Genet. Med. 19:5537–45
    [Google Scholar]
  47. 47. 
    Jonas MC, Suwannarat P, Burnett-Hartman A et al. 2019. Physician experience with direct-to-consumer genetic testing in Kaiser Permanente. J. Pers. Med. 9:447
    [Google Scholar]
  48. 48. 
    Hendricks-Sturrup RM, Prince AER, Lu CY 2019. Direct-to-consumer genetic testing and potential loopholes in protecting consumer privacy and nondiscrimination. JAMA 321:191869–70
    [Google Scholar]
  49. 49. 
    Hendricks-Sturrup RM, Lu CY. 2019. Direct-to-consumer genetic testing data privacy: key concerns and recommendations based on consumer perspectives. J. Pers. Med. 9:225
    [Google Scholar]
  50. 50. 
    Hazel JW, Slobogin C. 2018. Who knows what, and when? A survey of the privacy policies proffered by U.S. direct-to-consumer genetic testing companies. Cornell J. Law Public Policy 28:35
    [Google Scholar]
  51. 51. 
    Laestadius LI, Rich JR, Auer PL 2017. All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms. Genet. Med. 19:5513–20
    [Google Scholar]
  52. 52. 
    Future of Privacy Forum 2018. Privacy Best Practices for Consumer Genetic Testing Services Future of Privacy Forum Washington, DC: https://fpf.org/wp-content/uploads/2018/07/Privacy-Best-Practices-for-Consumer-Genetic-Testing-Services-FINAL.pdf
  53. 53. 
    Green RC, Lautenbach D, McGuire AL 2015. GINA, genetic discrimination, and genomic medicine. N. Engl. J. Med. 372:5397–99
    [Google Scholar]
  54. 54. 
    Fair L. 2017. DNA test kits: Consider the privacy implications. Federal Trade Commission Consumer Information Blog Dec. 12. https://www.consumer.ftc.gov/blog/2017/12/dna-test-kits-consider-privacy-implications
    [Google Scholar]
  55. 55. 
    Jillson E. 2019. Selling genetic testing kits? Read on. Federal Trade Commission Business Blog Mar. 21. https://www.ftc.gov/news-events/blogs/business-blog/2019/03/selling-genetic-testing-kits-read
    [Google Scholar]
  56. 56. 
    Hendricks-Sturrup R. 2020. A closer look at genetic data privacy and nondiscrimination in 2020. Future of Privacy Forum Blog Mar. 2. https://fpf.org/2020/03/02/a-closer-look-at-genetic-data-privacy-and-nondiscrimination-in-2020/
    [Google Scholar]
  57. 57. 
    OneTrust DataGuidance, Future of Privacy Forum 2019. Comparing privacy laws: GDPR v. CCPA. Guide, Dec., OneTrust DataGuidance and Future of Privacy Forum https://fpf.org/wp-content/uploads/2019/12/ComparingPrivacyLaws_GDPR_CCPA.pdf
  58. 58. 
    Nelson SC, Fullerton SM. 2018. “Bridge to the literature”? Third-party genetic interpretation tools and the views of tool developers. J. Genet. Couns. 27:4770–81
    [Google Scholar]
  59. 59. 
    Nelson SC, Bowen DJ, Fullerton SM 2019. Third-party genetic interpretation tools: a mixed-methods study of consumer motivation and behavior. Am. J. Hum. Genet. 105:1122–31
    [Google Scholar]
  60. 60. 
    Wang C, Cahill TJ, Parlato A et al. 2018. Consumer use and response to online third-party raw DNA interpretation services. Mol. Genet. Genom. Med. 6:135–43
    [Google Scholar]
  61. 61. 
    Allen CG, Gabriel J, Flynn M et al. 2018. The impact of raw DNA availability and corresponding online interpretation services: a mixed-methods study. Transl. Behav. Med. 8:1105–12
    [Google Scholar]
  62. 62. 
    Kirkpatrick B. 2018. Digging deeper into a Promethease finding before accepting it as truth. Watershed DNA Sep. 11. https://www.watersheddna.com/blog-and-news/digdeeperintorawdatafindings
    [Google Scholar]
  63. 63. 
    Guerrini CJ, Wagner JK, Nelson SC et al. 2020. Who's on third? Regulation of third-party genetic interpretation services. Genet. Med. 22:14–11
    [Google Scholar]
  64. 64. 
    CLIAC 2019. Clinical Laboratory Improvement Advisory Committee summary report Rep., Apr. 10–11 US Department of Health & Human Services Washington, DC: https://www.cdc.gov/cliac/docs/summary/cliac0419_summary.pdf
  65. 65. 
    Saey TH. 2018. What I actually learned about my family after trying 5 DNA ancestry tests. Sci. News June 13. https://www.sciencenews.org/article/family-dna-ancestry-tests-review-comparison
    [Google Scholar]
  66. 66. 
    Padawer R. 2018. Sigrid Johnson was black. A DNA test said she wasn't. N. Y. Times Magazine Nov. 19. https://www.nytimes.com/2018/11/19/magazine/dna-test-black-family.html
    [Google Scholar]
  67. 67. 
    Keshavan M. 2019. Consumer DNA tests negate sperm-bank-donor anonymity. Scientific American Sep. 12. https://www.scientificamerican.com/article/consumer-dna-tests-negate-sperm-bank-donor-anonymity/
    [Google Scholar]
  68. 68. 
    Rosenbaum SI. 2018. The twilight of closed adoptions. Boston Globe Aug. 4. https://www.bostonglobe.com/ideas/2018/08/04/the-twilight-closed-adoptions/1Iu4c5da4W5qNbIPn5IEmL/story.html
    [Google Scholar]
  69. 69. 
    Pappas S. 2018. Genetic testing and family secrets. Monitor Psychol 49:644
    [Google Scholar]
  70. 70. 
    Ram N, Guerrini CJ, McGuire AL 2018. Genealogy databases and the future of criminal investigation. Science 360:63931078–79
    [Google Scholar]
  71. 71. 
    Guerrini CJ, Robinson JO, Petersen D et al. 2018. Should police have access to genetic genealogy databases? Capturing the Golden State Killer and other criminals using a controversial new forensic technique. PLOS Biol 16:10e2006906
    [Google Scholar]
  72. 72. 
  73. 73. 
    MyHeritage 2020. MyHeritage Privacy policy https://www.myheritage.com/privacy-policy
  74. 74. 
    FamilyTreeDNA 2019. FamilyTreeDNA privacy statement https://www.familytreedna.com/legal/privacy-statement
  75. 75. 
    GEDmatch.Com 2019. GEDmatch.Com terms of service and privacy policy. https://www.gedmatch.com/tos.htm
  76. 76. 
    Schmidlen T, Schwartz M, DiLoreto K et al. 2019. Patient assessment of chatbots for the scalable delivery of genetic counseling. J. Genet. Couns. 28:61166–77
    [Google Scholar]
/content/journals/10.1146/annurev-med-070119-114727
Loading
  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error