The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening

Abstract

DVANCES IN NEXT-GENERATION SEQUENCING TECHnologies have the potential to spur better integration of genetic testing into patient care. Appropriateutilizationofthesetechnologieswillrequire the capacity to manage, interpret, and communicate large amountsofpersonalgeneticinformation. 1 Becausetheclinicalinfrastructurenecessarytosupporttheseactivitiesiscurrently limited, 2 it is likely that the earliest applications of whole-genome sequencing will be restricted to settings in which genetic testing is already a routine part of clinical or publichealthpractice,suchasstatenewbornscreening(NBS) programs. Theuseofnext-generationsequencingwillenablethedetection of a larger number of deleterious genetic variants, thereby expanding the number of pediatric disorders evaluatedwithoutsubstantiallyincreasingthecostsofNBS. 3 These important public health goals may encourage early adoptionofwhole-exomeandwhole-genomesequencingbystate NBS programs. However, if implemented by state programs, new sequencing technologies may have a number of undesirable effects that threaten the moral foundation and coremissionofonethenation’smostsuccessfulpublichealth initiatives. For nearly half a century, state NBS programs have tested millions of children annually to identify medical conditions that, if untreated, result in severe physical, mental, or developmentalharms.Thechildwelfareconsiderationsthat support these public health initiatives are compelling and have prompted most states to require NBS for all children, often with significant limitations on parents’ ability to request an exemption. The moral justification for compulsory NBS screening derives from the state’s interest in protecting its most vulnerable citizens from preventable harm. Although the diseases evaluated by these programs are exceptionally rare, the opportunity to intervene and dramatically alter a child’s life course and expectancy has been regarded as sufficient to preempt any claims of parental autonomy.