The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood

Abstract

Expanded universal carrier screening ( EUCS ) entails a population‐wide screening offer for multiple disease‐causing mutations simultaneously. Although there is much debate about the conditions under which EUCS can responsibly be introduced, there seems to be little discussion about its aim: providing carrier couples with options for autonomous reproductive choice. While this links in with current accounts of the aim of foetal anomaly screening, it is different from how the aim of ancestry‐based carrier screening has traditionally been understood: reducing the disease burden in the population. The reasons why the aim of EUCS is presented in terms of ‘autonomy’ rather than ‘prevention’ have not been spelled out in the literature. This paper seeks to fill this gap by considering the morally relevant similarities and dissimilarities between foetal anomaly screening, ancestry‐based carrier screening and EUCS . When carrier screening is performed in the prenatal period, enhancing autonomy appears the most appropriate aim of EUCS , as the alternative of ‘prevention through selective abortion’ would urge women to terminate wanted pregnancies. However, when screening is conducted in the preconception period, carrier couples can avoid the birth of affected children by other means than selective abortion, for instance preimplantation genetic diagnosis. To the extent that this increased control over passing on a genetic disorder raises questions of parental responsibility, it seems necessary that the account of the aims of EUCS is wider than only in terms of enhancing reproductive autonomy.

The ethics of preconception expanded carrier screening in patients seeking assisted reproduction

“…Would it not be more appropriate to merely inform them about possible participation in such screening and thus to increase their reproductive autonomy? Presenting preconception ECS as a ‘reproductive code of conduct’ for all couples who wish to have children may be too high a price ( van der Hout et al , 2019 ). However, one could also argue that the relevant responsibility of prospective parents does not (just) depend on the magnitude of their risk of being a carrier couple, but (also) on the severity of the disease under consideration ( Clarkeburn, 2000 ).…”

“…We suggest that the preventative options created by new genomic testing possibilities are not morally indifferent and may have implications for the operationalization of both parental and professional responsibilities. Instead of ignoring these responsibilities, the screening and counselling process should enable and motivate the involved parties to live up to them ( van der Hout et al , 2019 ).…”

Ethical issues in reproductive genetic carrier screening

“…A significant component of designing a publicly funded RCS program is determining which genes warrant inclusion for testing 10. Since screening can be stigmatising for people living with the genetic conditions screened for, it is considered most ethically defensible to screen only for genes associated with severe childhood‐onset conditions 1,3. However, because perceptions surrounding seriousness and severity are not purely objective,9 any RCS program must carefully weigh the diverse ways in which a condition can present, as well as the implications of that condition for the person and their family.…”

“…People who receive an increased chance result are offered genetic counselling to explore their reproductive options, which might include steps to avoid having a child with a genetic condition. Taking the test before pregnancy gives those with an increased chance result a wider range of reproductive options compared with prenatal testing 3…”

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

“…Preconception genetic testing aims to inform of a possible increased risk of having a child with a rare severe genetic condition, providing carrier couples with options for autonomous reproductive choice [ 1 , 2 ]. This screening strategy is performed on a DNA sample collected from both partners to determine whether they are carriers of deleterious variants in genes associated with recessive or X-linked genetic disorders [ 3 ].…”