Advantages of expanded universal carrier screening: what is at stake?

• Published in: European journal of human genetics : EJHG 2016-01, Vol.25 (1), p.17-21
• Main Authors: van der Hout, Sanne, Holtkamp, Kim Ca, Henneman, Lidewij, de Wert, Guido, Dondorp, Wybo J
• Format: Article
• Language: English
• Subjects: Disease; Ethics; Ethnicity; Female; Genetic Carrier Screening; Genetic screening; Genetic Testing - ethics; Genetics; Health care; Heterozygote; Humans; Hypotheses; Infant, Newborn; Male; Midwifery; Neonatal Screening - ethics; Population; Pregnancy; Professionals; Qualitative research; Researchers; Risk Factors; Risk groups
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2016.125

Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation. This empirical ethics study aims to widen this account and provide a balanced picture of the potential pros and cons of EUCS. Semi-structured interviews were conducted with 17 health (policy) professionals and representatives of patient organisations about their views on carrier screening including a possible EUCS scenario. Stakeholders acknowledged the potential benefits of EUCS, but also expressed five main moral concerns: (1) Does EUCS respond to an urgent problem or population need? (2) Is it possible to offer couples both understandable and sufficient information about EUCS? (3) How will societal views on 'reproductive responsibility' change as a result of EUCS? (4) Will EUCS lead to a lower level of care for high-risk populations? (5) Will EUCS reinforce disability-based stigmatisation? While having the potential to overcome some moral limits inherent in traditional carrier screening, EUCS comes with moral challenges of its own. More research is needed to (further) anticipate the ethical and practical consequences of EUCS.