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A new interesting article has been published in Genet Med. 2019 Dec 20. doi: 10.1038/s41436-019-0730-8. and titled:

Parents’ perceptions of personal utility of exome sequencing results.

Authors of this article are:

Mollison L, O’Daniel JM, Henderson GE, Berg JS, Skinner D.

A summary of the article is shown below:

PURPOSE: Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many individuals with suspected genetic disorders, but also yields negative or uncertain results for the majority. This study examines how parents of a child with an undiagnosed condition attribute personal utility to all types of ES results.METHODS: Return of 31 exome sequencing results was observed during clinic sessions, followed by semistructured interviews with parents one month later. Observations and interviews were recorded and transcribed. Data display matrices were used for content analysis and systematic comparisons of parents’ perceptions of utility.RESULTS: ES results could not provide all the answers to parents’ questions, especially in cases of clinically uninformative results, but parents nonetheless attributed utility to the knowledge gained. Parents across all results categories used the genomic information to rule out possible causes, end or postpone the diagnostic odyssey, and shift focus to treatment and management of symptoms.CONCLUSION: This study suggests that parents value even uninformative ES results while expressing hope for future discoveries. As pediatric genetics moves toward GS/ES as a first-tier test, how parents perceive the personal utility of negative or uncertain results is an important topic for genetic counseling and further research.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31857707 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: diagnostic testing; exome sequencing; parent perceptions; pediatrics; personal utility.

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