How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

Ivy Van Dijke,Martina C Cornel,Mariëtte Goddijn,Phillis Lakeman,Inge B Mathijssen,Lidewij Henneman

doi:10.1038/s41431-020-00706-8

Abstract

Couples at increased risk of having offspring with a specific genetic disorder who want to avoid having an affected child have several reproductive options including prenatal diagnosis (PND) and preimplantation genetic testing (PGT). In the future, non-invasive prenatal diagnosis (NIPD), germline gene editing (GGE) and somatic gene editing (SGE) might become available. This study explores if, and how, availability of new genetic technologies, including NIPD, GGE, SGE, would change reproductive decision-making of high-risk couples. In 2018, semi-structured interviews were conducted with 25 genetically at-risk couples. Couples previously had received genetic counselling for PND and PGT, and in most cases opted for (one of) these techniques, at one Dutch Clinical Genetics Center between 2013 and 2017. Considerations participants mentioned regarding the hypothetical use of NIPD, GGE and SGE, seem similar to considerations regarding PND and PGT and are reflected in underlying concepts. These include safety and burden for mother and child, and moral considerations. Couples generally favoured NIPD over PND as this would be safe and enables earlier diagnosis. Increased opportunities of having a ‘healthy’ embryo and less embryo disposal were considerations in favour of GGE. Some regarded GGE as unsafe and feared slippery slope scenarios. Couples were least favourable towards SGE compared to choosing for a genetic reproductive technology, because of the perceived burden for the affected offspring. With the possibly growing number of technological options, understanding high risk couples’ perspectives can assist in navigating the reproductive decision-making process. Counsellors should be prepared to counsel on more and complex reproductive options.

Highlights

There are two main reproductive options available to couples facing an increased risk of having offspring with a specific genetic disorder and who wish to avoid having an affected child: invasive prenatal diagnosis (PND), possibly followed by termination of pregnancy if the foetus is affected, and preimplantation genetic testing (PGT)
This study explored the views of genetically high-risk couples, who previously received PND/PGT counseling, on noninvasive prenatal diagnosis (NIPD), germline gene editing (GGE) and somatic gene editing (SGE) in relation to the reproductive decisions they had previously made
With the results of this study, bearing in mind that this is a study regarding the hypothetical use of future technologies, we attempted to gain more insight into the future dynamics of the reproductive decision-making process of high-risk couples counselled for PND and/or PGT who want to avoid the birth of an affected child

Summary

Introduction

There are two main reproductive options available to couples facing an increased risk of having offspring with a specific genetic disorder and who wish to avoid having an affected child: invasive prenatal diagnosis (PND) (chorionic villus sampling or amniocentesis), possibly followed by termination of pregnancy if the foetus is affected, and preimplantation genetic testing (PGT). Reproductive decisionmaking for high-risk couples is complex and known to be influenced by several factors, including the severity of the condition [2,3,4,5,6], experiences with the condition [1,2,3,4, 6, 7], having an affected child [3, 5, 8], attitudes towards pregnancy termination [1, 6,7,8], the desire to have genetically related children [1, 8], and perceptions on new technologies and their characteristics (e.g. safety) [1, 3, 6, 7]. If the NIPD result shows that the foetus is affected, the couple is confronted with a decision regarding continuing the pregnancy or not and in some cases invasive diagnostic confirmation is recommended [11]

Results

Discussion

Conclusion