Dr. Ulrik Kihlbom, Dr. Julia Inthorn and Prof. dr Marian Verkerk will present a paper at the29th EUROPEAN CONFERENCE ON PHILOSOPHY OF MEDICINE AND HEALTH CARE,19 – 22 August, 2015 Ghent, Belgium.
See the Conference Brochure Ghent
Preconception carrier testing: Medicalization or enhancing autonomy?
Marian Verkerk, PhD (Professor Ethics of Care at the University of Groningen, University Medical Centre Groningen)
Ulrik Kihlbom, PhD (Senior Lecturer in Medical Ethics at Uppsala University)
Julia Inthorn, PhD (Researcher at Universitätsmedizin Göttingen)
Preconception carrier testing (PCT) typically takes place in the context of reproductive healthcare, where results may be used to inform prospective parents of their options regarding family planning.(1)
Currently a first pilot on PCT is being developed and implemented at the University Medical Centre Groningen. The test provides couples, planning a pregnancy, with information, whether one or both partners are carriers of an autosomal recessive inherited diseases. (3),(4). One can distinguish different sorts of preconception carrier testing: cascade, targeted and population based testing.(2) The pilot developed in Groningen is a form of population based testing. Population based testing differs from other forms of preconception testing in that it is offered to persons not known to have an indication for testing based on either symptoms, family history or the outcome of prior pregnancies.
The diseases tested for are rare so in most cases there is no known family history of the disease. Carriers of such diseases are not affected and asymptomatic. Couples where both partners are carriers have different options when it comes to family planning. They can decide to live with the risk and choose not to do anything. Options to avoid the risk range from non-medical options like refraining from having children, adopting children or even changing partner, to the use of reproductive technologies like IVF and pre-implantation diagnostics, prenatal diagnostics or sperm/egg donation.
In June 2014 the Minister of Health in the Netherlands stated that she does not at this stage implement population based testing as part of a governmental supported
screening program. Private initiatives such as in Groningen are allowed under certain conditions. Her reluctance to implement population based screening programs are based on the fear of medicalization of pregnancy and the risk that prospective parents will be confronted with uncertain information that will cause insecurity or that it will give them the false idea that – after a negative outcome – they will have a healthy child.(5).
The argumentation of the Minister is surprising as it is in contrast with what seems to be the widespread bioethical view on the main aim of PCT: enhancement of reproductive autonomy, by enlarging reproductive choices for would be parents. In that it is strictly distinguished from screening or testing that is introduced for non- reproductive reasons, such as aiming at providing opportunities for treatment or prevention. According this view the danger for medicalization and the diminishing of reproductive autonomy because of the awareness of uncertain risks are misplaced(2).
In this contribution we will argue for a more nuanced ethical discussion of PCT. A strict distinction between the two goals –enhancing autonomy versus prevention and other public health values – cannot be maintained according to us. Even if we would say that PCT is all about enhancing reproductive autonomy, this must still be qualified as focused on decision making with regard to (serious) health problems in prospective children. In other words any kind of implementation is always embedded in a medical context of risk information and some sort of ‘medical indication’. Secondly, we will plea for a concept of reproductive autonomy in which reproductive choices are made in a moral landscape of what is normatively expected from prospective parents, especially in contexts where reproductive practices such as PCT may become routinized. This moral landscape consists of normative expectations about prospective parental responsibility and responsible parenthood (genetic accountability for pregnancies) (1). For a debate of a possible population based implementation of PCT these, often implicit, assumptions about what is normatively expected when it comes to ‘healthy pregnancy’ need to be unpacked and deconstructed. Arguments against PCT such as the risk of medicalization and diminishing reproductive autonomy can only be sufficiently countered when those hidden assumptions about responsible reproductive choices are explored and elaborated.
1. McGowan ML, Cho D, Sharp RR. The Changing Landscape of Carrier Screening: Expanding Technology and Options? Health Matrix J Law-Med. 2013 Spring;23(1):15– 33.
2. De Wert GMWR, Dondorp WJ, Knoppers BM. Preconception care and genetic risk: ethical issues. J Community Genet. 2012 Jul;3(3):221–8.
3. Kingsmore S. Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases. PLoS Curr. 2012 May 2;4:e4f9877ab8ffa9.
4. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing. Sci Transl Med. 2011 Jan 12;3(65):65ra4–65ra4.
5. Ministerie van Volksgezondheid W en S. Kamerbrief over screening rondom zwangerschap en geboorte – Kamerstuk – Rijksoverheid.nl [Internet]. 2014 [cited 2014 Jul 24]. Available from: http://www.rijksoverheid.nl/documenten-en- publicaties/kamerstukken/2014/06/04/kamerbrief-over-programmatisch-aanbod- van-preconceptionele-dragerschapsscreening-en-nipt.html