Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-mkpzs Total loading time: 0 Render date: 2024-12-23T04:59:43.102Z Has data issue: false hasContentIssue false

Chapter 15 - Human Reproductive Genetics in Medically Assisted Reproduction: Ethical Considerations

Published online by Cambridge University Press:  15 December 2022

By
Guido de Wert  and
Wybo Dondorp
Edited by
Stéphane Viville  and
Karen D. Sermon
Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
Get access

Summary

This chapter on the ethics of human reproductive genetics focuses on current debates in three corners of the field of medically assisted reproduction (MAR). First, we discuss preimplantation genetic testing (PGT). Until recently, ethical debates concentrated on PGT “on indication,” formerly termed preimplantation genetic diagnosis (PGD), namely testing of embryos on behalf of couples mostly at high risk of transmitting a specific genetic disorder. As important, however, is the ethics of (the offer of) routine testing of in vitro fertilization (IVF) embryos, formerly termed preimplantation genetic screening (PGS). Although it is still unclear what the precise value of such screening may turn out be, the scenario of next generation sequencing (NGS)-based “comprehensive PGS” raises a number of challenging ethical issues. Secondly, we discuss carrier screening. In MAR, until recently this type of screening targeted gamete donors. Presently, however, a growing number of clinics have started offering carrier screening to applicants of MAR as well. As discussed in Chapter 10, new NGS technologies are expected to make broad-scope testing for many genetic conditions feasible and affordable. Accordingly, what should we test gamete donors and applicants of MAR for and why? Finally, we add a brief ethical reflection on what may become a (or the) real revolution in human reproduction: germline genome editing.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 219 - 236
Publisher: Cambridge University Press
Print publication year: 2023

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Pennings, G, de Wert, G, Shenfield, F, et al. ESHRE Task Force on Ethics and Law 13: the welfare of the child in medically assisted reproduction. Hum Reprod 2007;22(10):2585–8.CrossRefGoogle ScholarPubMed
Dondorp, W, de Wert, G. Refining the ethics of preimplantation genetic diagnosis: a plea for contextualized proportionality. Bioethics 2019;33(2):294–301.CrossRefGoogle ScholarPubMed
De Wert, G. Preimplantation genetic diagnosis: normative reflections. In: Harper, J, ed. Preimplantation Genetic Diagnosis, 2nd ed. Cambridge: Cambridge University Press, 2009.Google Scholar
De Wert, G, Dondorp, W, Shenfield, F, et al. ESHRE Task Force on Ethics and Law 22: preimplantation genetic diagnosis. Hum Reprod 2014;29(8):1610–17.CrossRefGoogle Scholar
van der Schoot, V, Dondorp, W, Dreesen, J, et al. Preimplantation genetic testing for more than one genetic condition: clinical and ethical considerations and dilemmas. Hum Reprod 2019;34(6):1146–54.CrossRefGoogle ScholarPubMed
de Wert, G. Preimplantation genetic diagnosis: the ethics of intermediate cases. Hum Reprod 2005;20(12):3261–6.Google Scholar
Dondorp, W, De Wert, G, Pennings, G, et al. ESHRE Task Force on Ethics and Law 20: sex selection for non-medical reasons. Hum Reprod 2013;28(6):1448–54.CrossRefGoogle ScholarPubMed
Davis, DS. Genetic Dilemmas. Reproductive Technology, Parental Choices, and Children’s Futures, 2nd ed. New York: Oxford University Press, 2010.Google Scholar
Glover, J. Choosing Children. Genes, Disability and Design. Oxford: Clarendon Press, 2006.CrossRefGoogle Scholar
Soto-Lafontaine, M, Dondorp, W, Provoost, V, de Wert, G. Dealing with treatment and transfer requests: how PGD-professionals discuss ethical challenges arising in everyday practice. Med Health Care Philos 2018;21(3):375–86.CrossRefGoogle ScholarPubMed
Mastenbroek, S, Twisk, M, van der Veen, F, Repping, S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011;17(4):454–66.CrossRefGoogle ScholarPubMed
Mastenbroek, S, Repping, S. Preimplantation genetic screening: back to the future. Hum Reprod 2014;29(9):1846–50.Google Scholar
Pagliardini, L, Vigano, P, Alteri, A, et al. Shooting STAR: reinterpreting the data from the “Single Embryo TrAnsfeR of Euploid Embryo” randomized clinical trial. Reprod Biomed Online 2020;40(4):475–8.CrossRefGoogle ScholarPubMed
Orvieto, R, Gleicher, N. Preimplantation genetic testing for aneuploidy (PGT-A)-finally revealed. J Assist Reprod Genet 2020;37(3):669–72.CrossRefGoogle ScholarPubMed
CoGEN. CoGEN Position Statement on Chromosomal Mosaicism Detected in Preimplantation Blastocyst Biopsies, 2016. https://ivf-worldwide.com/cogen/oep/publications/cogen-position-statement-on-chromosomal-mosaicism-detected-in-preimplantation-blastocyst-biopsies.htmlGoogle Scholar
Turley, P, Meyer, MN, Wang, N, et al. Problems with using polygenic scores to select embryos. N Engl J Med 2021;385(1):78–86.Google Scholar
Hens, K, Dondorp, W, Handyside, AH, et al. Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges. Hum Reprod Update 2013;19(4):366–75.CrossRefGoogle ScholarPubMed
Zamani Esteki, M, Dimitriadou, E, Mateiu, L, et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am J Hum Genet 2015;96(6):894–912.CrossRefGoogle ScholarPubMed
Dimitriadou, E, Melotte, C, Debrock, S, et al. Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos. Hum Reprod 2017;32(3):687–97.CrossRefGoogle ScholarPubMed
Henneman, L, Borry, P, Chokoshvili, D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24(6):e1–e12.CrossRefGoogle ScholarPubMed
Cannon, J, Van Steijvoort, E, Borry, P, Chokoshvili, D. How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature. Expert Rev Mol Diagn 2019;19(12):1117–29.Google Scholar
Molster, CM, Lister, K, Metternick-Jones, S, et al. Outcomes of an international workshop on preconception expanded carrier screening: some considerations for governments. Front Public Health 2017;5:25.CrossRefGoogle ScholarPubMed
Bonte, P, Pennings, G, Sterckx, S. Is there a moral obligation to conceive children under the best possible conditions? A preliminary framework for identifying the preconception responsibilities of potential parents. BMC Med Ethics 2014;15:5.CrossRefGoogle Scholar
van der Hout, S, Dondorp, W, de Wert, G. The aims of expanded universal carrier screening: autonomy, prevention, and responsible parenthood. Bioethics 2019;33(5):568–76.Google Scholar
de Wert, G, van der Hout, S, Goddijn, M, et al. The ethics of preconception expanded carrier screening in patients seeking assisted reproduction. Hum Reprod Open 2021;2021(1):hoaa063.CrossRefGoogle ScholarPubMed
Dondorp, W, de Wert, G, Pennings, G, et al. ESHRE Task Force Ethics and Law 17. Lifestyle-related factors and access to medically assisted reproduction. Hum Reprod 2010;25(3):578–83.Google Scholar
Lazarin, GA, Hawthorne, F, Collins, NS, et al. Systematic classification of disease severity for evaluation of expanded carrier screening panels. PLoS One 2014;9(12):e114391.CrossRefGoogle ScholarPubMed
Schuurmans, J, van den Heuvel, LM, Plantinga, M, et al. Feasibility of couple-based expanded preconception carrier screening offered by the general practitioner. Eur J Hum Genet 2018;26:808–9.Google Scholar
De Wert, G. Ethics of assisted reproduction: the case of preimplantation genetic diagnosis. In Fauser, BCJM, Rutherford, AJ, Strauss, JF, Van Steirteghem, A, eds. Molecular Biology in Reproductive Medicine. New York/London: Parthenon Publishers, 1999: 433–48.Google Scholar
Nederlandse vereniging Obstetrie Gynaecologie (NVOG), Vereniging voor Klinische Embryologie (KLEM). Landelijk Standpunt Spermadonatie. Specifieke Eisen voor Spermadonoren. Utrecht, 2018.Google Scholar
Dondorp, W, De Wert, G, Pennings, G, et al. ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues. Hum Reprod 2014;29(7):1353–9.Google Scholar
Mertes, H, Lindheim, SR, Pennings, G. Ethical quandaries around expanded carrier screening in third-party reproduction. Fertil Steril 2018;109(2):190–4.Google Scholar
de Wert, G, Pennings, G, Clarke, A, et al. Human germline gene editing: recommendations of ESHG and ESHRE. Eur J Hum Genet 2018;26(4):445–9.Google ScholarPubMed
Dondorp, W, de Wert, G. Innovative reproductive technologies: risks and responsibilities. Hum Reprod 2011;26(7):1604–8.CrossRefGoogle ScholarPubMed
Mertes, H, Pennings, G. Modification of the embryo’s genome: more useful in research than in the clinic. Am J Bioeth 2015;15(12):52–3.CrossRefGoogle ScholarPubMed
Jans, V, Dondorp, W, De Wert, G. Between innovation and precaution: the role of offspring safety considerations in strategies of introducing new reproductive techniques. Hum Reprod Open 2020;2020(2):hoaa003.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×