A Framework for Unrestricted Prenatal Whole-Genome Sequencing: Respecting and Enhancing the Autonomy of Prospective Parents

American Journal of Bioethics

Volumn 17, Issue 1, 2017, Pages 3-18

  Chen, Stephanie C ^a   Wasserman, David T ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

children and families; clinical genetics; decision making; disability; informed consent; reproductive technologies

Indexed keywords

CHILD PARENT RELATION; DECISION MAKING; ETHICS; FEMALE; FETUS DISEASE; GENETIC SCREENING; HUMAN; INFORMED CONSENT; PERSONAL AUTONOMY; PREGNANCY; PRENATAL DIAGNOSIS; SOCIAL RESPONSIBILITY; WHOLE GENOME SEQUENCING; WOMEN'S RIGHTS;

DECISION MAKING; FEMALE; FETAL DISEASES; GENETIC TESTING; HUMANS; INFORMED CONSENT; PARENTS; PERSONAL AUTONOMY; PREGNANCY; PRENATAL DIAGNOSIS; SOCIAL RESPONSIBILITY; WHOLE GENOME SEQUENCING; WOMEN'S RIGHTS;

EID: 85008264033     PISSN: 15265161     EISSN: 15360075     Source Type: Journal    
DOI: 10.1080/15265161.2016.1251632     Document Type: Article

References (113)

1. Alexander, E., S., Kelly, and L., Kerzin-Storrar. 2015. Non-invasive prenatal testing:UK genetic counselors’ experiences and perspectives. Journal of Genetic Counseling 24 (2):300–11.
2. Allison, M., 2013. Genomic testing reaches into the womb. Nature Biotechnology 31 (7):595–601.
3. American Academy of Pediatrics Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social Ethical and Legal Issues Committee. 2013. Policy statement:Ethical and policy issues in genetic testing and screening of children. Pediatrics 131 (3):620–22.
4. American College of Obstetricians and Gynecologists. 2008. Ethical issues in genetic testing. ACOG Committee opinion no. 410. Obstetrics and Gynecology 111:1495–502.
5. American College of Obstetricians and Gynecologists. 2007. Sex selection. ACOG Committee opinion no. 360. Obstetrics and Gynecology 109:475–78.
6. American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. 1998. Professional disclosure of familial genetic information. American Journal of Human Genetics 62 (2):474–483.
7. Aro, A. R., et al. 1997. Acceptance of genetic testing in a general population:Age, education and gender differences. Patient Education and Counseling 32 (1):41–49.
8. Asch, A., and D. Wasserman. 2015. Reproductive testing for disability. In Routledge Companion to Bioethics, eds. J. Arras, E. Fenton, and R. Kukla, 417–32. New York, NY:Routledge.
9. Baruch, S., D., Kaufman, and K. L., Hudson. 2008. Genetic testing of embryos:Practices and perspectives of US in vitro fertilization clinics. Fertility and Sterility 89 (5):1053–58.
10. Bayefsky, M., and B., Jennings. 2015. Regulating preimplantation genetic diagnosis in the United States:The limits of unlimited selection, 43. New York, NY:Palgrave Macmillan.
11. Bengiamin, M. I., J. A., Capitman, and M. B., Ruwe. 2010. Disparities in initiation and adherence to prenatal care:impact of insurance, race-ethnicity and nativity. Maternal and Child Health Journal 14 (4):618–24.
12. Benn, P., et al. 2014. Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenatal Diagnosis 34 (2):145–52.
13. Berkman, B. E., and S. C., Hull. 2014. The “right not to know” in the genomic era:Time to break from tradition? American Journal of Bioethics 14 (3):28–31.
14. Berkman, B. E., S. C., Hull, and L. G., Biesecker. 2015. Scrutinizing the right not to know. American Journal of Bioethics 15 (7):17–19.
15. Bernhardt, B. A., et al. 2013. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genetics in Medicine 15 (2):139–45.
16. Bianchi, D. W., 2012. From prenatal genomic diagnosis to fetal personalized medicine:progress and challenges. Nature Medicine 18 (7):1041–51.
17. Biesecker, L. G., 2012. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice:lessons from the ClinSeq project. Genetics in Medicine 14 (4):393–98.
18. Borry, P., et al. 2011. Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Human Reproduction 26 (5):972–77.
19. Botkin, J. R., 1995. Fetal privacy and confidentiality. Hastings Center Report 25 (5):32–39.
20. Botkin, J. R., 2000. Line drawing:developing professional standards for prenatal diagnostic services. In Prenatal testing and disability rights, ed. E., Parens and A., Asch, 288–307. Washington, DC:Georgetown University Press.
21. Bryant, A. S., et al. 2010. Racial/ethnic disparities in obstetric outcomes and care:prevalence and determinants. American Journal of Obstetrics and Gynecology 202 (4):335–43.
22. Bryant, A. S., et al. 2015. Variation in women's understanding of prenatal testing. Obstetrics and Gynecology 125 (6):1306–12.
23. Bunnik, E. M., et al. 2013. A tiered-layered-staged model for informed consent in personal genome testing. European Journal of Human Genetics 21 (6):596–601.
24. Janssens, A. C. J. W., 2016. Designing babies through gene editing:Science or science fiction? Genetics in Medicine, 1–2.
25. Cheon, J. Y., J., Mozersky, and R., Cook-Deegan. 2014. Variants of uncertain significance in BRCA:A harbinger of ethical and policy issues to come? Genome Medicine 6 (12):1–10.
26. Chetty, S., M. J., Garabedian, and M. E., Norton. 2013. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenatal Diagnosis 33 (6):542–46.
27. Daley, R., M., Hill, and L. S., Chitty. 2014. Non-invasive prenatal diagnosis:Progress and potential. Archives of Disease in Childhood-Fetal and Neonatal Edition 99 (5):F426–F430.
28. de Berker, A. O., et al. 2016. Computations of uncertainty mediate acute stress responses in humans. Nature Communications 7:10996.
29. de Jong, A., et al. 2011. Advances in prenatal screening:The ethical dimension. Nature Reviews Genetics 12 (9):657–63.
30. de Jong, A., et al. 2013. The scope of prenatal diagnosis for women at increased risk for aneuploidies:Views and preferences of professionals and potential users. Journal of Community Genetics 4 (1):125–35.
31. Deans, Z., A. J., Clarke, and A. J., Newson. 2015. For your interest? The ethical acceptability of using non-invasive prenatal testing to test ‘purely for information.’ Bioethics 29 (1):19–25.
32. Dillow, C., 12 August 2013. The next big thing in pregnancy:Sequencing your baby's genome. Fortune. http://fortune.com/2013/08/12/the-next-big-thing-in-pregnancy-sequencing-your-babys-genome (accessed on May 29, 2016).
33. Dondorp, W., et al. 2015. Non-invasive prenatal testing for aneuploidy and beyond:Challenges of responsible innovation in prenatal screening. European Journal of Human Genetics 23 (11):1438–1450.
34. Donley, G., S. C., Hull, and B. E., Berkman. 2012. Prenatal whole genome sequencing:Just because we can, should we? Hastings Center Report 42 (4):28–40.
35. Dworkin, G., 1982. Is more choice better than less? Midwest Studies in Philosophy 7 (1):47–61.
36. Ekwo, E. E., et al. 1985. Factors influencing maternal estimates of genetic risk. American Journal of Medical Genetics 20 (3):491–504.
37. Elwyn, G., et al. 2006. Developing a quality criteria framework for patient decision aids:online international Delphi consensus process. British Medical Journal 333 (7565):417.
38. Ethics Committee of the American Society for Reproductive Medicine. 2001. Preconception gender selection for nonmedical reasons. Fertility and Sterility 75 (5):861–64.
39. Ethics Committee of the American Society for Reproductive Medicine. 2015. Use of reproductive technology for sex selection for nonmedical reasons. Fertility and Sterility 103 (6):1418–22.
40. Fan, H. C., et al. 2012. Non-invasive prenatal measurement of the fetal genome. Nature 487 (7407):320–24.
41. Farrant, W., 1985. Who's for amniocentesis? The politics of prenatal screening. In The sexual politics of reproduction, ed. H., Homans, 96–122. Surrey, UK:Gower.
42. Farrell, R. M., P. K., Agatisa, and B., Nutter. 2014. What women want:Lead considerations for current and future applications of noninvasive prenatal testing in prenatal care. Birth 41 (3):276–82.
43. Farrell, R. M., et al. 2011. Risk and uncertainty:Shifting decision making for aneuploidy screening to the first trimester of pregnancy. Genetics in Medicine 13 (5):429–36.
44. Farrell, R. M., et al. 2016. The use of noninvasive prenatal testing in obstetric care:Educational resources, practice patterns, and barriers reported by a national sample of clinicians. Prenatal Diagnosis 36 (6):499–506.
45. Farrelly, C., 2004. The genetic difference principle. American Journal of Bioethics 4 (2):21–28.
46. Farrelly, E., et al. 2012. Genetic counseling for prenatal testing:where is the discussion about disability? Journal of Genetic Counseling 21 (6):814–24.
47. Farrimond, H. R., and S. E., Kelly. 2013. Public viewpoints on new non-invasive prenatal genetic tests. Public Understanding of Science 22 (6):730–44.
48. Frassoni, F., 2006. The laws covering in vitro fertilization and embryo research in Italy. Bone Marrow Transplantation 38 (1):5–6.
49. Gabriel, S. 5 Apr 2016. Genomic data processing on google cloud platform. Google Research Blog. Available at:https://googleresearch.blogspot.com/2016/04/genomic-data-processing-on-google-cloud.html (accessed June 3, 2016).
50. Garrouste, C., J., Le, and E., Maurin. 2011. The choice of detecting Down syndrome:Does money matter? Health Economics 20 (9):1073–89.
51. Gavaghan, C., 2007. Right problem, wrong solution:A pro-choice response to “expressivist” concerns about preimplantation genetic diagnosis. Cambridge Quarterly of Healthcare Ethics 16 (01):20–34.
52. Gutiérrez-Mateo, C., et al. 2009. Preimplantation genetic diagnosis of single-gene disorders:Experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertility and Sterility 92 (5):1544–56.
53. Hayden, E. C., 2014. The $1,000 genome. Nature 507 (7492):294–95.
54. Hill, M., C., Lewis, and L. S., Chitty. 2016. Stakeholder attitudes and needs regarding cell-free fetal DNA testing. Current Opinion in Obstetrics and Gynecology 28 (2):125–31.
55. Hillman, S. C., et al. 2013. “If it helps…”:The use of microarray technology in prenatal testing:Patient and partners reflections. American Journal of Medical Genetics Part A 161 (7):1619–27.
56. Institute of Medicine. 1994. Assessing genetic risks. Washington, DC:National Academy Press.
57. Institute of Medicine. 2009. Innovations in service delivery in the age of genomics:Workshop summary. Washington, DC:National Academies Press.
58. Kellogg, G., et al. 2014. Attitudes of mothers of children with Down syndrome towards noninvasive prenatal testing. Journal of Genetic Counseling 23 (5):805–13.
59. King, J. S., 2008. Predicting probability:Regulating the future of preimplantation genetic screening. Yale Journal of Health Policy, Law, and Ethics 8 (2):283–358.
60. Kitzman, J. O., et al. 2012. Noninvasive whole-genome sequencing of a human fetus. Science Translational Medicine 4 (137):137–76.
61. Khoshnood, B., et al. 2003. Socioeconomic and state-level differences in prenatal diagnosis and live birth prevalence of Down's syndrome in the United States. Revue d'épidémiologie et de santé publique 51 (6):617–27.
62. Kuppermann, M, et al. 2014. Effect of enhanced information, values clarification, and removal of financial barriers on use of prenatal genetic testing:a randomized clinical trial. JAMA 312 (12):1210–1217.
63. Lachance, C. R., et al. 2010. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genetics in Medicine 12 (5):304–12.
64. Larion, S., et al. 2014. Uptake of noninvasive prenatal testing at a large academic referral center. American Journal of Obstetrics and Gynecology 211 (6):651–e1.
65. Lázaro-Muñoz, G., et al. 2015. Looking for trouble:Preventive genomic sequencing in the general population and the role of patient choice. American Journal of Bioethics 15 (7):3–14.
66. Leach, M., 15 September 2015. Down syndrome screening no longer a recommended preventive service. Down Syndrome Prenatal Testing. http://www.downsyndromeprenataltesting.com/down-syndrome-screening-no-longer-a-recommended-preventive-service/ (Accessed June 6, 2016).
67. Lewis, C., C., Silcock, and L. S., Chitty. 2013. Non-invasive prenatal testing for Down's syndrome:Pregnant women's views and likely uptake. Public Health Genomics 16 (5):223–32.
68. Loi, M., 2012. On the very idea of genetic justice. Cambridge Quarterly of Healthcare Ethics 21 (1):64–77.
69. MacArthur, D. 14 May 2012. Genome interpretation costs will not spiral out of control. Genomes Unzipped. http://genomesunzipped.org/2012/05/genome-interpretation-costs-will-not-spiral-out-of-control.php (accessed June 03, 2016).
70. McGillivray, G., et al. 2012. Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenatal Diagnosis 32 (4):389–95.
71. Mikat-Stevens, N. A., I. A., Larson, and B. A., Tarini. 2014. Primary-care providers' perceived barriers to integration of genetics services:A systematic review of the literature. Genetics in Medicine 17 (3):169–76.
72. Minkoff, H., and R., Berkowitz. 2014. The case for universal prenatal genetic counseling. Obstetrics and Gynecology 123 (6):1335–38.
73. Munthe, C., 2015. A new ethical landscape of prenatal testing:Individualizing choice to serve autonomy and promote public health:A radical proposal. Bioethics 29 (1):36–45.
74. Murray, T. H., 1996. The worth of a child. Berkeley, CA:University of California Press.
75. National Library of Medicine. 2015. Muscular distrophy. Medline Plus. Available at: http://www.nlm.nih.gov/medlineplus/musculardystrophy.html#cat5 (accessed July 10, 2015).
76. National Society of Genetic Counselors. 2016. Professional status survey:Executive summary. http://nsgc.org/p/cm/ld/fid=68 (accessed May 29, 2016).
77. Netzer, C., D., Schmitz, and W., Henn. 2012. To know or not to know the genomic sequence of a fetus. Nature Reviews Genetics 13 (10):676–77.
78. Nisbett, R. E., and L., Ross. 1980. Human inference:Strategies and shortcomings of social judgment. Englewood Cliffs, NJ:Prentice Hall.
79. Norton, M. E., et al. 2013. Effects of changes in prenatal aneuploidy screening policies in an integrated health care system. Obstetrics and Gynecology 121 (2, Part 1):265–71.
80. O'Connor, A. M., et al. 2009. Decision aids for people facing health treatment or screening decisions. Cochrane Database Systematic Reviews 3 (3):CD001431.
81. Öhman, S. G., C., Grunewald, and U., Waldenström. 2003. Women's worries during pregnancy:Testing the Cambridge Worry Scale on 200 Swedish women. Scandinavian Journal of Caring Sciences 17 (2):148–52.
82. Practice Committee of the Society for Assisted Reproductive Technology, and Practice Committee of the American Society for Reproductive Medicine. 2008. Preimplantation genetic testing:A Practice Committee opinion. Fertility and Sterility 90 (5):S136–43.
83. President's Council on Bioethics. 2003. Beyond therapy:Biotechnology and the pursuit of happiness. Washington, DC:Government Printing Office.
84. President's Council on Bioethics. 2004. Reproduction and responsibility:The regulation of new biotechnologies. Washington, DC:Government Printing Office.
85. Public Law 110–374. 2008. Prenatally and postnatally diagnosed conditions awareness act. 42 USC 201. 122 STAT 4051.
86. Ravitsky, V., and B. S., Wilfond. 2006. Disclosing individual genetic results to research participants. American Journal of Bioethics 6 (6):8–17.
87. Regalado, A., 2013. Prenatal DNA sequencing. MIT Technology Review. https://www.technologyreview.com/s/513691/prenatal-dna-sequencing (accessed May 29, 2016).
88. Roe v. Wade. 1973. 410 U.S. 113, 93 S. Ct. 705, 35 L. Ed. 2d 147.
89. Rolland, J. S., and J. K., Williams. 2005. Toward a biopsychosocial model for 21st-century genetics. Family Process 44 (1):3–24.
90. Ross, L. F., et al. 2013. Technical report:Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine 15 (3):234–245.
91. Savulescu, J., 2001. Procreative beneficence:Why we should select the best children. Bioethics 15 (5–6):413–26.
92. Savulescu, J., 2007. Future people, involuntary medical treatment in pregnancy and the duty of easy rescue. Utilitas 19 (1):1–20.
93. Say, R., S., Robson, and R., Thomson. 2011. Helping pregnant women make better decisions:a systematic review of the benefits of patient decision aids in obstetrics. British Medical Journal Open 1 (2):e000261.
94. Sayres, L. C., et al. 2011. Cell-free fetal DNA testing:a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenatal Diagnosis 31 (11):1070–76.
95. Seror, V., 2008. Fitting observed and theoretical choices–women's choices about prenatal diagnosis of Down syndrome. Health Economics 17 (5):557–77.
96. Sharp, R. R., 2011. Downsizing genomic medicine:approaching the ethical complexity of whole-genome sequencing by starting small. Genetics in Medicine 13 (3):191–94.
97. Shiloh, S. 1994. Heuristics and biases in health decision making. In eds. L. Heath et al., Applications of heuristics and biases to social issues, 13–33. Springer.
98. Shiloh, S., and M. Sagi. 1989. Effect of framing on the perception of genetic recurrence risks. American Journal of Medical Genetics 33 (1):130–135.
99. Shiloh, S., et al. 2015. The impact of multiplex genetic testing on disease risk perceptions. Clinical genetics 87 (2):117–23.
100. Shkedi-Rafid, S., et al. 2016. What results to disclose, when, and who decides? Healthcare professionals’ views on prenatal chromosomal microarray analysis. Prenatal Diagnosis 36 (3):252–9.
101. Shuster, E., 2007. Microarray genetic screening:A prenatal roadblock for life? The Lancet 369 (9560):526–29.
102. Skinner, C. S., C. Sugg, J. Tiro, and V. L. Champion. 2015. The health belief model. In Health Behavior:Theory, Research, and Practice, 75–94. San Francisco, CA:John Wiley & Sons.
103. Skirton, H. 2015. Direct to consumer testing in reproductive contexts-should health professionals be concerned? Life sciences, Society and Policy 11 (1):1–9.
104. Souka, A. P., et al. 2010. Attitudes of pregnant women regarding termination of pregnancy for fetal abnormality. Prenatal diagnosis 30 (10):977–80.
105. Sturgis, P., H., Cooper, and C., Fife-Schaw. 2005. Attitudes to biotechnology:Estimating the opinions of a better-informed public. New Genetics and Society 24 (1):31–56.
106. Tischler, R., et al. 2011. Noninvasive prenatal diagnosis:Pregnant women's interest and expected uptake. Prenatal Diagnosis 31 (13):1292–99.
107. van Schendel, R. V., et al. 2014. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening. European Journal of Human Genetics 22 (12):1345–50.
108. Wasserman, D., 2003. A choice of evils in prenatal testing. Florida State University Law Review 30:295–313.
109. Westerfield, L., S., Darilek, and I. B., van den Veyver. 2014. Counseling challenges with variants of uncertain significance and incidental findings in prenatal genetic screening and diagnosis. Journal of Clinical Medicine 3 (3):1018–32.
110. Wertz, D. C., 2000. Drawing lines:Notes for policymakers. In Prenatal testing and disability rights, ed. E., Parens and A., Asch, 261–87. Washington, DC:Georgetown University Press.
111. Wilfond, B. S., and K. A. B., Goddard. 2015. It's complicated:Criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making. Molecular Genetics & Genomic Medicine 3 (4):239–42.
112. Wright, C., 2009. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis:Report of the UK expert working group. PHG Foundation.
113. Yurkiewicz, I. R., B. R., Korf, and L. S., Lehmann. 2014. Prenatal whole-genome sequencing:Is the quest to know a fetus's future ethical? Obstetrical and Gynecological Survey 69 (4):197–99.