Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States

Beuschel, Jennifer; Geyer, Hannah; Rich, Maria F.; Leimanis, Mara L.; Kampfschulte, Andrew; VanSickle, Elizabeth; Rajasekaran, Surender; Bupp, Caleb

doi:10.1016/j.jpeds.2021.08.010

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…With fast turn-around times, rWGS is poised to become a first-tier test in pediatric critical and acute care settings [1][2][3][4][5][6][7][8][9][10][11][12]. As cost of testing steadily falls, rWGS is becoming cost-effective when ordered early in the diagnostic evaluation of suspected genetic conditions or conditions of unclear or unknown etiologies [12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

et al. 2022

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We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized neonates and children up to 18 years of age meeting clinical criteria for testing. We surveyed 307 healthcare professionals from eight hospitals about their knowledge and attitudes regarding rWGS. We examined survey internal reliability using exploratory factor analysis and associations between respondent characteristics and attitudes toward rWGS with linear regression. We thematically analyzed free-text responses. Views about rWGS implementation in respondents’ own setting and respondents’ personal capability to implement rWGS were generally neutral (M = 3.44 (SD = 0.74); M = 3.30 (SD = 0.85), respectively). Views about the potential for rWGS in clinical practice were overall positive (M = 4.12 (SD = 0.57)). The degree of positivity of attitudes about rWGS was strongly influenced by perceived knowledge, clinical or non-clinical role, concerns about future insurance coverage for rWGS as a first-tier test, and future adverse impact of genomics health information on patients or families. We identified several actionable factors influencing attitudes toward rWGS of pediatric healthcare professionals. Expanded education and ongoing implementation research are needed for the full potential of rWGS in pediatrics to be realized.

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Section: Introductionmentioning

confidence: 99%

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

et al. 2022

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“…Nevertheless, at the end of 2021, concrete discussions began in England and the United States of subjecting all newborns to a complete DNA analysis immediately after delivery to discover any genetic pathologies as early as possible [3][4][5]. The resulting debate continues to be very intense from an ethical and scientific point of view.…”

Section: Introductionmentioning

confidence: 99%

Genetics and”democracy”

Marchetti

Corsello

2022

Ital J Pediatr

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Background The spread of knowledge on the important implications of a diagnosis of genetic disease does not correspond to a sharing of the knowledge and equal rights of children. Main body It is estimated that about 5% of newborns may have a rare disease that in some cases, if diagnosed early, could have specific treatments that may be able to modify the natural history of the disease. However, in most countries the diagnosis during the first hours of life is limited to a few diseases, due to the high costs and time required for genetic investigations with classical methods. Recently, experimental projects to subject all newborns to a complete DNA analysis, with Next Generation Sequencing techniques, to detect any genetic pathologies as early as possible, have been reported in some countries. The late diagnosis of some genetic diseases that have treatment plans, such as spinal muscular atrophy, can be a serious damage, for anyone who has seen and accompanied the life of a child with this disease and his/her family, before and after, the recent availability of therapies which, if started very early, can lead to an almost normal life. Rapid sequencing and genetic diagnosis are a crucial part of directing inpatient management and this resource should be accessible not only to academic medical centers but also in community settings. Conclusions It is time for a profound reflection that places in Italy, as in other countries, the use of genetic tests in neonatal and pediatric age based on principles of evidence, ethics, and democracy and on clear national guidelines, which also consider organizational aspects.

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Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

Chung,

Hue,

et al. 2023

Genetics in Medicine

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Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States

Cited by 4 publications

References 11 publications

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Genetics and”democracy”

Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

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