Chapter 16 - Ethical and Psychosocial Issues in Whole-Genome Sequencing for Newborns

Abstract

Whole-exome/genome sequencing of newborns yields vast amounts of information that is often difficult to interpret. Significant ethical dilemmas arise when clinically relevant genetic information is identified, including incidental findings. These findings can relate to carrier status for a heritable condition or increased susceptibility to a medical condition. The decision whether to disclose these findings raises many ethical and legal concerns. Some algorithms to screen results and filter truly uninterpretable incidental findings from those that may have clinical significance have been developed. Major issues focus on the question of whether such testing will confer benefits to the tested children and their families. There is agreement that testing is appropriate if it confers an immediate benefit to the child. As a method, whole-genome sequencing (WGS) has weaknesses such as problematic signal-to-noise ratio. On the other hand, WGS may allow difficult diagnoses in a timely way that would be impossible using other diagnostic tools. WGS can be particularly useful in situations in which a child has a complex medical condition for which conventional testing failed to yield a diagnosis. To highlight the ways in which WGS is different, this chapter contrasts it with three other types of genetic testing that were used in the past based on different technologies and deployed in various populations for different purposes: (1) mandated newborn screening programs; (2) carrier testing in populations known to be at risk for one specific disease; or (3) specimen collection for biobanking to be used in research. To ensure that personalized genomic information and genome-based health interventions are safe and effective, there is a need to study their outcomes and impact on individuals and their families and on health care providers.