Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety
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Patient Safety (M Coffey, Section Editor)
Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety Gregory Costain, MD, PhD1 Ronald D. Cohn, MD1,2,3,* David Malkin, MD4,5,* Address 1 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada 2 Division of Paediatric Medicine, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, ON, Canada *,3 Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada Email: [email protected] 4 Division of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada *,5 Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada Email: [email protected]
* Springer Nature Switzerland AG 2020
This article is part of the Topical Collection on Patient Safety KEYWORDS Precision medicine I Paediatrics I Genetics I Genomics I Genetic testing I Quality of health care
Abstract Purpose of Review Precision child health (PCH) is an emerging branch of precision medicine that focuses on the unique needs of the paediatric population. A PCH approach has the potential to enhance both quality of care and patient safety. Genome-wide sequencing can be used as a specific exemplar to showcase current opportunities and forecast future developments. Recent Findings Information gained from genome-wide sequencing can increase awareness of common and rare medical complications. Care provided to children and their families may then shift from reactive to proactive. Pertinent categories of results from genetic testing include primary diagnostic findings, genetic modifiers of disease expression, and secondary findings. In addition, an individual’s unifying genetic diagnosis, disease subtype, and pharmacogenomic profile can all inform drug selection and treatment outcome. Recent lessons learned from the integration of genome-wide sequencing into the clinic may be generalizable to other “big data”-driven interventions.
Patient Safety (M Coffey, Section Editor) Summary Quality of care and patient safety are key targets of a PCH approach. The genomic revolution offers insights into this proposed new paradigm for healthcare delivery by showcasing the value of accurate diagnosis, disease subtyping with molecular markers, and awareness of individual- or family-specific risk factors for adverse outcomes.
Introduction Grouping patients by presenting symptom or clinical diagnosis is a necessary but flawed approach to contemporary care delivery. Quality of care and patient safety issues arise from the marked inter-individual variability in clinical presentations, disease courses, and responses to standard-of-care interventions. New technologies are enabling increased precision in classifying diseases and identifying at-risk states for adverse outcomes. The development of standardized procedures and protocols has been a key component of many successful qua
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