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Genetics and Pediatric Patient

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Pediatric Diagnostic Labs for Primary Care: An Evidence-based Approach

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Abstract

The field of genetics and genetic testing has exploded over the past 30 years. Clinicians trained as primary care providers may not understand the varying tests that can be helpful in a variety of clinical scenarios. The diagnostic potential of the newer technology of genetic tests in pediatric patients may enable early, timely, and specific interventions to improve clinical outcomes. As clinicians order more genetic testing, diagnostic stewardship must be followed, and the right tests are ordered on the right patient at the right time. Ensuring that the results are interpreted correctly, communicated thoroughly to the patient, and utilized to improve patient outcomes is the responsibility of the ordering clinician. Genetic testing is complicated and should not be ordered if the clinician is not knowledgeable about the different tests and how to use them. Therefore, a careful history with a three-generation family history is the clinician’s responsibility before ordering any genetic testing. A dysmorphology examination can help clarify possible diagnoses. A genetic diagnosis has life-changing implications for families. The patient has frequently been on a diagnostic journey before receiving the genetic diagnosis. Clinicians must be mindful of the ethical considerations when the results are communicated to parents. As the cost of next-generation sequencing drops, the way healthcare is delivered will continue to shift toward precision medicine with a tailored treatment for illnesses.

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Authors and Affiliations

  1. School of Nursing, Columbia University, New York, NY, USA

    Rita Marie John

  2. Developmental-Behavioral Pediatrics, Mary Bridge Children’s Hospital, Tacoma, WA, USA

    Angela Kenny

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  1. Rita Marie John
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Correspondence to Rita Marie John .

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  1. School of Nursing, Columbia University, New York, NY, USA

    Rita Marie John

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John, R.M., Kenny, A. (2022). Genetics and Pediatric Patient. In: John, R.M. (eds) Pediatric Diagnostic Labs for Primary Care: An Evidence-based Approach. Springer, Cham. https://doi.org/10.1007/978-3-030-90642-9_7

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  • DOI: https://doi.org/10.1007/978-3-030-90642-9_7

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-90641-2

  • Online ISBN: 978-3-030-90642-9

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