How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

Abstract

Aim: This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. Materials & methods: We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis. Results: Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient–provider relationships. Conclusion: Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.

Keywords::

• genetic counseling
• genetic sequencing
• genetic testing
• pediatric
• provider communication

Financial & competing interests disclosure

This research was supported by grant #1U01HG006546-01 from the National Human Genome Research Institute (NHGRI). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The study was approved by the institutional review boards at The Children’s Hospital of Philadelphia and the University of Pennsylvania. Informed consent was obtained from all participants.

Additional information

Funding

This research was supported by grant #1U01HG006546-01 from the National Human Genome Research Institute (NHGRI). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.