Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Danton S CharMildred Cho

Abstract

To investigate the potential impacts of whole-genome sequencing (WGS) in the pediatric critical-care context, we examined how clinicians caring for critically ill children with congenital heart disease (CHD) anticipate and perceive the impact of WGS on their decision-making process and treatment recommendations. We conducted semistructured in-person and telephone interviews of clinicians involved in the care of critically ill children with CHD at a high-volume pediatric heart center. We qualitatively analyzed the transcribed interviews. In total, 34 clinicians were interviewed. Three themes emerged: (i) uncertainty about the accuracy of WGS testing and adequacy of testing validation; (ii) the use of WGS to facilitate life-limiting decisions such as futility, rationing, and selective prenatal termination; and (iii) moral distress over using WGS with a lack of decision support. Despite uncertainty about WGS testing, the interviewed clinicians were using, and anticipated expanding the use of, WGS results to justify declarations of futility, withdrawal of care, and rationing in critically ill children with CHD. This situation is causing moral distress in providers who have to make high-stakes decisions involving WGS results, with o...Continue Reading

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Citations

Jun 1, 2019·European Journal of Human Genetics : EJHG·Zornitza StarkClara L Gaff
Aug 31, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Courtney BerriosJohn Lantos
Nov 9, 2019·Journal of Genetic Counseling·Natalie DeuitchDanton Char
Mar 9, 2019·Intensive Care Medicine·Courtney E FrenchF Lucy Raymond
Jan 1, 2019·Expert Review of Precision Medicine and Drug Development·Nicole Martinez-Martin, David Magnus
Nov 26, 2020·Journal of Genetic Counseling·Fiona LynchBelinda McClaren
Feb 17, 2021·Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies·Dana B GalDanton S Char
Jan 3, 2019·Pediatrics·Christopher GyngellJulian Savulescu

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Methods Mentioned

BETA
X-ray

Software Mentioned

Dedoose
WGS

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