On the Ethics of Clinical Whole Genome Sequencing of Children

May, Thomas; Zusevics, Kaija L.; Strong, Kimberly A.

doi:10.1542/peds.2012-3788

Cited by 15 publications

(14 citation statements)

References 7 publications

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“…Furthermore, interviewees considered secondary variants to be something which belonged to the whole family, as evidenced by the way in which they discussed the implications of examples 3 and 5 and their willingness to share genetic information with the extended family. Support for viewing secondary variants of adult‐onset conditions in children as family matters can be found in some of the recent clinical literature , and is in line with earlier research on the attitudes of parents towards testing their children's cystic fibrosis carrier status . The idea that wider family implications might be a reason for caution in disclosure, suggested by some authors , was not a concern.…”

Section: Discussionsupporting

confidence: 66%

The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing

et al. 2014

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Children with unexplained developmental disabilities or congenital anomalies are increasingly being referred for genetic diagnostic testing using array-comparative genomic hybridisation (array-CGH) and next-generation sequencing (NGS) technologies. Their parents will have to deal with the secondary variants that will inevitably arise. We conducted 16 prospective semi-structured interviews with native Dutch-speaking parents whose children had undergone clinical array-CGH testing. The interviews explored the parents' experiences, expectations and opinions, specifically regarding the communication of results. Concrete examples of 'unexpected results' were provided to help guide the discussion, differing in severity, treatability, time of onset, level of risk, and carrier status. Data was analysed using content and narrative analysis methodologies. Parental motivations for and against the disclosure of unexpected results cluster around four main themes: actionability; knowledge; context; and characteristics of the result. Most parents wished to know all types of results. Disclosure was framed within a holistic, contextual, family-wide view. Genetic counselling should aim to integrate explorations of the motivations of parents surrounding the disclosure of results with good clinical care.

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Section: Discussionsupporting

confidence: 66%

The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing

et al. 2014

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“…Recent studies suggest that WES applications in the setting of undiagnosed disease have high diagnostic yield that exceeds 20% . However, among genetic professionals, there is still a substantial controversy over the utility and ethical considerations associated with WES . For WES used clinically in adult and pediatric genetics, one of the main ethical issues surrounds the return of incidental findings .…”

Section: Introductionmentioning

confidence: 99%

Prenatal whole‐exome sequencing: parental attitudes

et al. 2015

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“…This is especially the case with respect to the increasing use of WGS for therapeutic guidance in the NICU. [6][7][8] Families and health care professionals frequently face difficult decisions about the appropriate clinical management of neonates who have profound disabilities, especially when clinicians encounter difficulties in diagnosing these conditions. Sometimes WGS can provide a genetic diagnosis for these neonates and lead to a more precise prognosis for survival and outcomes of available treatment options.…”

Section: Deemmentioning

confidence: 99%

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

Deem

2016

Pediatrics

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Clinical whole-genome sequencing (WGS) promises to deliver faster diagnoses and lead to better management of care in the NICU. However,several disability rights advocates have expressed concern that clinical use of genetic technologies may reinforce and perpetuate stigmatization of and discrimination against disabled persons in medical and social contexts. There is 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. This article explores ways to extend these concerns to clinical WGS in neonatal care. By considering these perspectives during the early phases of expanded use of WGS in the NICU, this article encourages clinicians and bioethicists to continue to reflect on ways to attend to the concerns of disability rights advocates, foster trust and cooperation between the medical and disability communities, and forestall some of the social harms clinical WGS might cause to persons with disabilities and their families.

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On the Ethics of Clinical Whole Genome Sequencing of Children

Cited by 15 publications

References 7 publications

The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing

The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing

Prenatal whole‐exome sequencing: parental attitudes

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

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