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Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety

  • Patient Safety (M Coffey, Section Editor)
  • Published:
Current Treatment Options in Pediatrics Aims and scope Submit manuscript

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.

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.

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Acknowledgements

The authors thank their colleagues at The Hospital for Sick Children for thoughtful discussions related to precision child health.

Author information

Authors and Affiliations

  1. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada

    Gregory Costain MD, PhD & Ronald D. Cohn MD

  2. Division of Paediatric Medicine, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, ON, Canada

    Ronald D. Cohn MD

  3. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

    Ronald D. Cohn MD

  4. Division of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada

    David Malkin MD

  5. Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada

    David Malkin MD

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  1. Gregory Costain MD, PhD
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Correspondence to Ronald D. Cohn MD or David Malkin MD.

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Gregory Costain declares that he has no conflict of interest. Ronald D. Cohn declares that he has no conflict of interest. David Malkin declares that he has no conflict of interest.

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Costain, G., Cohn, R.D. & Malkin, D. Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety. Curr Treat Options Peds 6, 317–324 (2020). https://doi.org/10.1007/s40746-020-00207-2

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