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Special Issue "Genomic Sequencing in Maternal and Child Health"

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A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neonatology".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 3061

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Special Issue Editor

Dr. Robin Z. Hayeems

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Guest Editor

Child Health Evaluative Sciences, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada
Interests: genome diagnostic and screening technologies; novel measures for assessing outcomes; understanding impacts of genomics on on patients; family members; health care providers; health care systems and socieety; health technology assessment

Special Issue Information

Dear Colleagues,

Exome and genome sequencing (ES/GS) exert profound influence on clinical care by ushering precision medicine into routine practice. Superior to conventional genetic tests in their ability to identify disease-causing variants in certain pediatric patient populations, these technologies are gaining traction as a gold standard diagnostic. However, further evidence of their value, value for money, and ethically appropriate use as diagnostic tools in the prenatal and early postnatal period is warranted. Beyond the diagnostic application of these technologies for prenatal, early postnatal, and pediatric care, attention is turning to their application to prenatal and newborn screening, where no a priori indication for testing exists. Arguably, the recommended reporting of secondary findings identified in the context of diagnostic applications of ES/GS suggests that the use of these technologies as screening tools is already taking place. While understanding the DNA code of an apparently healthy fetus, a newborn baby, or a young child may provide invaluable guidance and optimize individual and family health outcomes, harmful consequences are also plausible. Carefully deliberated principles and comprehensive evidence on the patient, provider, health system, and societal impacts of the use of these technologies in a screening context are urgently needed to enable the appropriate use of a range of applications of ES/GS in the maternal and child health context.

Dr. Robin Z. Hayeems
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

exome/genome sequencing
child health
prenatal screening and diagnosis
newborn screening and diagnosis
evidence-informed funding and policy decision making
ethical implications

Published Papers (4 papers)

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Research

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Open AccessArticle

Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges

and

Children 2023, 10(5), 824; https://doi.org/10.3390/children10050824 - 01 May 2023

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Abstract

Ultra-rapid genomic sequencing (urGS) is increasingly used in neonatal and pediatric intensive care settings (NICU/PICU), demonstrating high diagnostic and clinical utility. This study aimed to explore the perspectives of healthcare professionals (HPs) and the challenges raised by urGS, particularly when making treatment decisions. Four focus groups and two interviews were conducted with HPs who had experience using urGS in NICU/PICU. Inductive content analysis was used to analyze the data. Nineteen HPs participated overall (eight clinical geneticists, nine genetic counselors, and two intensivists). One challenging area of practice identified by HPs was setting realistic expectations for outcomes of urGS among HPs and families. HPs reported modifying pre-test counseling to include life-limiting diagnoses as a possible test outcome and felt concerned about the timing of the test and its impact on parent–child bonding. UrGS results of uncertain prognostic significance posed considerable challenges. Moral distress arose when families and HPs were misaligned regarding treatment goals following the urGS diagnosis. We identified areas of practice that remain ethically challenging for HPs using urGS in the NICU/PICU. HPs experiences of using urGS in the NICU/PICU could inform specialized training in withdrawal of treatment decision making for the genomics workforce. Full article

(This article belongs to the Special Issue Genomic Sequencing in Maternal and Child Health)

Open AccessArticle

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

Hadley Stevens Smith

Emily S. Bonkowski

Madison R. Hickingbotham

Raymond Belanger Deloge

and

Stacey Pereira

Children 2023, 10(5), 774; https://doi.org/10.3390/children10050774 - 25 Apr 2023

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Abstract

Families of children with rare and undiagnosed conditions face many psychosocial and logistical challenges that may affect their approach to decisions about their child’s care and their family’s well-being. As genomic sequencing (GS) is increasingly incorporated into pediatric diagnostic workups, assessing the family-level characteristics that shape the experience of pediatric GS is crucial to understanding how families approach decision-making about the test and how they incorporate the results into their family life. We conducted semi-structured interviews with parents and other primary caregivers of pediatric patients who were evaluated for a suspected genetic condition and who were recommended to have GS (n = 20) or who had recently completed GS (n = 21). We analyzed qualitative data using multiple rounds of thematic analysis. We organized our thematic findings into three domains of factors that influence the family-level experience of GS: (1) family structure and dynamics; (2) parental identity, relationships, and philosophies; and (3) social and cultural differences. Participants conceptualized their child’s family in various ways, ranging from nuclear biological family to support networks made up of friends and communities. Our findings can inform the design and interpretation of preference research to advance family-level value assessment of GS as well as genetic counseling for families. Full article

(This article belongs to the Special Issue Genomic Sequencing in Maternal and Child Health)

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Review

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Open AccessReview

Translating Precision Health for Pediatrics: A Scoping Review

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Children 2023, 10(5), 897; https://doi.org/10.3390/children10050897 - 17 May 2023

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Abstract

Precision health aims to personalize treatment and prevention strategies based on individual genetic differences. While it has significantly improved healthcare for specific patient groups, broader translation faces challenges with evidence development, evidence appraisal, and implementation. These challenges are compounded in child health as existing methods fail to incorporate the physiology and socio-biology unique to childhood. This scoping review synthesizes the existing literature on evidence development, appraisal, prioritization, and implementation of precision child health. PubMed, Scopus, Web of Science, and Embase were searched. The included articles were related to pediatrics, precision health, and the translational pathway. Articles were excluded if they were too narrow in scope. In total, 74 articles identified challenges and solutions for putting pediatric precision health interventions into practice. The literature reinforced the unique attributes of children and their implications for study design and identified major themes for the value assessment of precision health interventions for children, including clinical benefit, cost-effectiveness, stakeholder values and preferences, and ethics and equity. Tackling these identified challenges will require developing international data networks and guidelines, re-thinking methods for value assessment, and broadening stakeholder support for the effective implementation of precision health within healthcare organizations. This research was funded by the SickKids Precision Child Health Catalyst Grant. Full article

(This article belongs to the Special Issue Genomic Sequencing in Maternal and Child Health)

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Open AccessEssay

Managing Prognosis in Precision Medicine: Utility, Imagination, and Communication

Rebecca Mueller

Brittany M. Lee

and

Katharine Press Callahan

Children 2023, 10(4), 664; https://doi.org/10.3390/children10040664 - 31 Mar 2023

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Abstract

Research on how physicians predict and communicate prognosis focuses primarily on end-of-life care. Unsurprisingly, as genomic technology gains traction as a prognostic tool, the focus has also been on terminality, with research focused on how genetic results may be used to terminate pregnancies or redirect care towards palliation for neonates. However, genomic results also have powerful impacts on how patients who live prepare for their futures. Genomic testing provides broad-reaching and early—albeit complex, uncertain, and shifting—prognostic information. In this essay, we argue that as genomic testing occurs earlier and increasingly in a screening context, researchers and clinicians must strive to understand and manage the prognostic implications of results. While our understanding of the psychosocial and communicational aspects of prognosis in symptomatic populations is incomplete, it has progressed further than our understanding in a screening context and therefore provides useful lessons and feasible opportunities for further research. By providing an interdisciplinary and inter-specialty perspective on the psychosocial and communicational aspects of prognosis in genetics, we discuss prognostication with respect to genetics from the neonatal period through adulthood, highlighting medical specialties and patient populations that are especially informative for considering the longitudinal management of prognostic information in genomic medicine. Full article

(This article belongs to the Special Issue Genomic Sequencing in Maternal and Child Health)

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Special Issue "Genomic Sequencing in Maternal and Child Health"

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