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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

Experiences with obtaining informed consent for genomic sequencing.

Barbara A Bernhardt¹, Myra I Roche^2,3, Denise L Perry⁴

¹Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

American Journal of Medical Genetics. Part A

|July 23, 2015

Summary

Informed consent for genetic sequencing is challenging due to broad results and patient expectations. Experienced professionals focus sessions on managing misperceptions and setting realistic expectations for genomic testing outcomes.

Keywords:

genetic counseling genetic testing genomic sequencing informed consent qualitative research

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Area of Science:

Genetics
Bioethics
Medical Education

Background:

Genome and exome sequencing utilization is increasing.
Informed consent processes for genetic sequencing are not well understood.
Understanding patient/participant perspectives is crucial for effective consent.

Purpose of the Study:

To explore the content and process of informed consent for genome and exome sequencing.
To identify challenges, patient questions, and concerns related to genetic sequencing consent.
To understand how experienced professionals adapt consent procedures.

Main Methods:

Qualitative study involving interviews with 29 genetic counselors and research coordinators.
Content analysis of transcribed interviews.
Focus on experiences in research and clinical settings.

Main Results:

Key challenges include the scope and uncertainty of sequencing results and unrealistic patient expectations.
Consent session approaches are adapted based on testing indications, patient type, and timing.
Experienced professionals prioritize addressing misperceptions and managing expectations over technical details.

Conclusions:

Informed consent for genetic sequencing should prioritize addressing common patient misunderstandings and setting realistic expectations.
Focusing on key, potentially misunderstood issues improves the informed consent process.
Further research is needed on stakeholder agreement regarding essential consent elements.