References

Archibald AD, Smith MJ, Burgess T Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine. 2018; 20:(5)513-523

Delatycki MB, Alkuraya F, Archibald A International perspectives on the implementation of reproductive carrier screening. Prenatal Diagnosis. 2020; 40:301-310

Dive L, Newson AJ. Reproductive carrier screening: responding to the eugenics critique. Journal of Medical Ethics. 2021; 0:1-8

Greer G. Sex and Destiny: the politics of human fertility.London: Picador; 1985

Huxley J. Man in the Modern World.London: Chatto & Windus; 1947

Reproductive carrier screening

02 October 2021
Volume 29 · Issue 10

Abstract

George Winter examines the implications of screening couples to discover if they are at risk of having children with particular conditions, and the slippery slope to which this may lead

Eugenics, as Dive and Newson (2021) note, describes the political, social, and medical practices that aim to promote desirable characteristics in a species by the manipulation of heredity. In his 1947 essay ‘Eugenics and Society’, the Oxford-educated biologist, founding member of the World Wildlife Fund, and keen eugenicist Julian Huxley (1887–1975) wrote that ‘striking and rapid eugenic results can be achieved only by a virtual elimination of the few lowest and truly degenerate types and a high multiplication-rate of the few highest and truly gifted types’ (Huxley, 1947). Huxley – who was far from lacking in self-esteem – no doubt considered himself as belonging to the latter category. But Germaine Greer made the wry observation that ‘it may take a Colombian gamine more raw intelligence to survive in the barrio than it takes to gain a double first at Oxford’ (Greer, 1985).

In the 21st century, the idea that eugenics is no longer an acceptable societal view is a welcome one. Yet, relatively recent developments in the reproductive landscape mean that the topic remains the subject of continued debate.

Take, for instance, reproductive carrier screening (RCS), which involves testing individuals and couples for their risk of having children with autosomal recessive and X-linked recessive conditions, and which became available for hemoglobinopathies and Tay-Sachs disease in the 1970s, and cystic fibrosis in the late 1980s (Delatycki et al, 2020). Thus, in an Australian study, Archibald et al (2018) described their experience of offering simultaneous RCS for cystic fibrosis, fragile X syndrome and spinal muscular atrophy. Of the 12 000 individuals screened there were 610 carriers – 342 cystic fibrosis, 35 fragile X syndrome, 241 spinal muscular atrophy – around 88% of whom had no family history of the condition. At least 94% of cystic fibrosis and spinal muscular atrophy carriers' partners were tested, and 50 couples were at increased risk of having a child with one of the conditions (14 cystic fibrosis, 35 fragile X syndrome, and one spinal muscular atrophy) with 32 pregnant at the time of testing. The authors concluded that ‘[t]he combined affected pregnancy rate is comparable to the population risk for Down syndrome, emphasising the need to routinely offer carrier screening’ (Archibald et al, 2018).

Delatycki et al (2020) place RCS in a global context, noting that in the UK, following patchy availability of hemoglobinopathy testing since the 1970s, a national antenatal screening program for hemoglobinopathies was introduced for all pregnant women in the early 2000s by Public Health England, and NHS-funded Tay-Sachs disease carrier screening has been available for people of Jewish ancestry since 1999.

However, in a recent ethical analysis of RCS, Dive and Newson (2021) make the point that when such screening is offered to anyone regardless of their family history or ancestry, the argument is often advanced that RCS can be seen as a form of eugenics. This view, claim the authors, has become increasingly widespread as RCS attracts more public funding and makes use of refinements such as expanded gene panels. However, while acknowledging that RCS is concerned with benefiting individuals, and eugenics aims to improve the genetic composition of populations, Dive and Newson (2021) state that ‘when RCS is implemented as a publicly available programme it becomes important to consider its potential (and perceived) population-level effects.’

Typical responses to the eugenics critique of RCS, state Dive and Newson (2021), emphasise the voluntary nature of participating in screening and making reproductive choices, combined with an assertion of individual freedom. Dive and Newson (2021) consider this response inadequate, making clear their concern with ensuring ‘that RCS programmes are designed and implemented in such a way as to avoid the ethical wrongs committed by eugenics programmes in the past (even inadvertently, if not in intent).’

There is no doubt that genetic screening has brought life-enhancing benefits to the human condition. However, it is imperative that present-day decisions on the future of unborn individuals are taken with an awareness that ethical slopes of a slippery nature lurk in the reproductive landscape. After all, it is only in the recent past that Huxley (1947) made the ominous observation that ‘[w]e must attempt to control the change of social environment and at the same time to control the change of human germ-plasm, along lines which appear likely to yield tangible and desirable results.’