Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges

Deem, Michael J.

doi:10.1542/peds.2015-3731i

Cited by 31 publications

(29 citation statements)

References 58 publications

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“…Concern has already been articulated that clinical use of WGS in the newborn period might exacerbate stigmatization and discrimination against disabled persons. 39 …”

Section: Discussionmentioning

confidence: 99%

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

Char

Lee

Magnus

et al. 2018

Genetics in Medicine

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Purpose 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. Methods 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. Results 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. Conclusion 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 only partial understanding of them. Decision support for clinicians, and discussion with families of the risks of using WGS for rationing or withdrawal, is needed.

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“…Concern has already been articulated that clinical use of WGS in the newborn period might exacerbate stigmatization and discrimination against disabled persons. 39 …”

Section: Discussionmentioning

confidence: 99%

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

Char

Lee

Magnus

et al. 2018

Genetics in Medicine

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“…As techniques such as next generation sequencing [17,18] and whole genome sequencing are developed further for routine use, there will be many more commercial laboratories offering comprehensive testing as has already proved helpful for newborn intensive care units [19,20]. However, reporting and ethical issues need to be resolved before whole genome sequencing can be used widely [33].…”

Section: Further Development Of Prenatal and Neonatal Screeningmentioning

confidence: 99%

Approach to diagnosis of metabolic diseases

Gilbert‐Barness

Farrell

2016

TRD

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Inborn errors of metabolism are generally categorized as rare diseases. Their presentations are often so subtle and insidious as to cause daunting diagnostic challenges for even the most astute clinicians. Thus, irreversible morbidity and preventable mortality have been unavoidable until recent decades because of delayed diagnoses. This unfortunate circumstance has led to newborn screening programs worldwide for 40 or more hereditary metabolic disorders beginning with the dramatic improvements for patients with phenylketonuria in the 1960's. Increasingly sophisticated testing procedures such as tandem mass spectrometry and other multiplex technologies applied to dried blood spot specimens are now having greater impact without raising costs significantly. The advent of next generation sequencing methods is likely to stimulate further progress and lead to whole genome or exome sequencing as prenatal and neonatal screening expands further. With early diagnosis through screening and expedited therapies better outcomes are routinely possible, and even preventive therapies amounting to "cures" can be anticipated through research.

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“…There is a growing need, then, for clinicians and bioethicists to consider how the clinical use of WGS in the newborn period might exacerbate such harms to persons with disabilities." 4 Despite these challenges, precision neonatology has the significant potential both to decrease infant mortality related to genetic diseases with onset in newborns and to facilitate parental decision making regarding the transition to palliative care.…”

Section: Genetics and Newborn Screeningmentioning

confidence: 99%

Selected Advances and Dilemmas in Neonatal and Perinatal Medicine 2016

Fanaroff

2016

Amer J Perinatol

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Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges

Cited by 31 publications

References 58 publications

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

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

Approach to diagnosis of metabolic diseases

Selected Advances and Dilemmas in Neonatal and Perinatal Medicine 2016

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