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Paeds Casesinvestigations-procedures-and-technology

Paeds Cases · investigations-procedures-and-technology

Choose and consent a genetic test after a normal microarray — OSCE

OSCE communication and decision-making station: escalate from a normal microarray to trio whole-exome sequencing in a 4-year-old with global developmental delay, take consent for the full result space including an incidental actionable secondary finding, and explain the principles of newborn bloodspot screening for a sibling in the maternity unit.

communication and decision-making station3 min readVerification in progress

Target exams

RACP DCEMRCPCH ClinicalRCPSC PediatricsABP General Pediatrics
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Target exams

RACP DCEMRCPCH ClinicalRCPSC PediatricsABP General Pediatrics
Prompt
A 4-year-old boy is referred back to your general paediatric clinic with global developmental delay and mild dysmorphism. His chromosomal microarray, taken a year ago, is normal. Both parents attend and are willing to provide blood. The family has read about exome sequencing on the internet and want to know whether it is the next step, what it might find, and what happens if it finds something unrelated to the developmental delay. You are the paediatric registrar asked to decide on the next test, take consent, and answer the family's questions.

Candidate brief

You have this station to assess a 4-year-old with global developmental delay and a normal microarray, decide on the next genetic test, take consent for the full result space of an exome, and answer the family's questions. Treat this as a communication and decision-making encounter: explain the test choice, take explicit consent, address the possibility of an incidental secondary finding, and demonstrate the request-side discipline the station is testing. [1] [2]

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References4ShowHide
  1. [1]Miller DT, Adam MP, Aradhya S, et al Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet, 2010.PMID 20466091
  2. [2]Yang Y, Muzny DM, Reid JG, et al Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med, 2013.PMID 24088041
  3. [11]Miller DT, Lee K, Abul-Husn NS, et al ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) Genet Med, 2023.PMID 37347242
  4. [12]Marsden D, Larson C, Levy HL Newborn screening for metabolic disorders J Pediatr, 2006.PMID 16737864
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