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.
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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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- [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]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
- [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
- [12]Marsden D, Larson C, Levy HL Newborn screening for metabolic disorders J Pediatr, 2006.PMID 16737864