Counsel parents on a genomic test result, a secondary finding, and cascade testing — OSCE

OSCE communication and shared decision-making station: explaining to parents what their son's trio exome result means, why the normal microarray did not detect it, what a likely pathogenic variant is, what a secondary finding is and why it was reported, what cascade testing of the wider family involves, and why periodic re-analysis matters — while addressing parental guilt, anxiety about a cardiac finding, and the temptation to over-interpret uncertainty.

osce communication and shared decision-making3 min readVerification in progress

Prompt

The parents of a four-year-old boy with global developmental delay have just received his trio exome sequencing results. The report identifies a likely pathogenic variant in a gene associated with a neurodevelopmental disorder (explaining his delay) and, separately, a pathogenic variant in a cardiac arrhythmia gene on the ACMG SF v3.0 list that is unrelated to his presenting phenotype. The family consented to secondary findings at the pre-test visit. The parents are anxious about the cardiac finding, feel guilty about passing on a genetic condition, and are confused about why the earlier microarray was normal. Counsel them.

Task

Counsel the parents. You have five minutes. Demonstrate an organised, empathic, and accurate explanation that addresses four questions a fellowship communication station rewards: why the earlier microarray was normal and what the exome found, what the likely pathogenic variant means for their son, what the secondary cardiac finding means and why it was reported, and what cascade testing and re-analysis involve for the wider family. The management and counselling framework follows the ACMG/AMP variant classification standards and the ACMG SF v3.0 policy. ^[1] ^[5]

References4Show

[1]Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015.PMID 25741868
[5]Miller DT, Lee K, Chung WK, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement. Genet Med, 2021.PMID 34012068
[7]Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill newborns. Lancet Respir Med, 2015.PMID 25937001
[9]Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the ACMG. Genet Med, 2021.PMID 34211152

Counsel parents on a genomic test result, a secondary finding, and cascade testing — OSCE

osce communication and shared decision-making3 min readVerification in progress

Task

References4Show

[1]Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015.PMID 25741868
[5]Miller DT, Lee K, Chung WK, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement. Genet Med, 2021.PMID 34012068
[7]Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill newborns. Lancet Respir Med, 2015.PMID 25937001
[9]Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the ACMG. Genet Med, 2021.PMID 34211152