Our Uncertain Eugenics: Rare Genetic Disorders in the Age of Non-Invasive Prenatal Screening

Daniel Navon (UC San Diego, USA) & Gareth Thomas (Cardiff University, UK)

Panel: Bioethics and rare diseases

Abstract: Recent developments in prenatal genetic testing raise a host of social and ethical issues. A new wave of non-invasive prenatal tests (NIPT) allows genetic screening to be performed on a fetus via a simple blood sample from the mother. Uptake is expected to be rapid and competition between the companies offering NIPT kits has been fierce. While most of the discussion of NIPT thus far has understandably centered on Down syndrome, many of the other disorders now included in NIPT kits – conditions like 22q11.2 Deletion Syndrome and XYY Syndrome – are highly variable and include many mildly affected people. The explosion of the NIPT industry therefore means that many thousands of would-be parents will have to grapple with positive results that are at once undoubtedly serious and deeply uncertain. This talk will draw upon the short history of NIPT and the longer history of invasive prenatal genetic testing to outline: 1) some parameters for understanding how this might all unfold; 2) how the deeply personal choices afforded by the burgeoning NIPT market have potentially eugenic effects at the population level; 3) the very specific implications for advocacy groups and communities dedicated to rare genetic disorders.