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Case study 1)

Consent and returning results with incidental findings

You are a pediatrician on a research study using genome sequencing to investigate intellectual disability.

You have a patient who is a 4 year-old girl with intellectual disability (ID) and minor dysmorphic features, as she thinks they may benefit from participating in the study.

You have developed a study protocol stating that unless they request otherwise, you will return all findings related to ID.  As well as this, you provide the option of returning findings unrelated to ID that are on the ACMG list of genes recommended for return of secondary (or incidental) findings.

Your patient’s father wants everything to be reported including additional findings, whereas the mother only wants to know about intellectual disability. After further discussion, the couple agrees to have everything reported.

Sequencing and analysis identifies a truncating variant in the gene ARID1B that explains the girl’s intellectual disability: Coffin-Siris Syndrome 1; CSS1.

Additionally, a variant is found in the gene KCNQ1, which has been reported as pathogenic for Long QT syndrome, an adult onset condition. 

Question 1

What are the key components of informed consent for this study?

Question 2

Should the Long QT variant finding have been reported to the family under this study protocol?

For more information see the following section and resources:


Acknowledgement to Ainsley Newson, David Amor, Kathy Wu. (Presented at the Annual Australian Clinical Genomics Symposium, Melbourne, 2018).