Content Analysis of Consent Forms for Clinical Whole Exome Sequencing
Abstract
As genomic sequencing becomes increasingly incorporated into clinical care,
the patient informed consent process must successfully manage many ethical
challenges, including whether to seek secondary findings and which results will be
returned to the patient. The goal of the current study was to explore variation among
existing informed consent forms for clinical whole exome sequencing (WES) in order
to identify the level of consistency with the recommendations from the Presidential
Commission for the Study of Bioethical Issues and the American College of Medical
Genetics and Genomics (ACMG) regarding informed consent for clinical genome
scale sequencing.
Recommendations of the Presidential Commission for the Study of Bioethical
Issues and ACMG were organized into a framework of 18 key points for analysis. In
addition, 5 other points relevant to informed consent were identified from a
preliminary review of the sampled forms and review of the literature. These were
assessed separately from the Bioethics Commission and ACMG list. Using these
frameworks, content analysis was conducted on a sample of 18 informed consent
forms for clinical WES downloaded from laboratory websites.
For each of the individual Bioethics Commission and ACMG recommended
consent items, the frequency of inclusion ranged from 11% to 100%. Among all
forms in the sample, the average adherence to the complete list of 18 Bioethics and
ACMG recommendations was 74.4%. For each of the 5 additionally identified items,
the frequency of inclusion ranged from 5.6% to 50%.
We observed considerable variability in the content of informed consent forms
among the sample of 18 laboratories. This analysis can be useful to laboratories that
provide clinical WES to create informed consent forms that they are in alignment
with recommendations from the Bioethics Commission and ACMG. The
development of a more standardized informed consent process could improve
communication between clinicians and patients, increase understanding of genetic
testing, and allow for increased data sharing.
Table of Contents
Introduction -- Review of literature -- Methodology -- Results -- Discussion -- Appendix A. Recommendations of the Presidential Commission for the Study of Bioethical Issues: Informed Consent: Privacy and Progress in
Whole Genome Sequencing -- Appendix B. ecommendations of the Presidential Commission for the Study of Bioethical Issues: Anticipate and Communicate: Ethical Management of
Incidental and Secondary Findings in the Clinical,
Research, and Direct-to-consumer Contexts -- Appendix C. American College of Medical Genetics and Genomics policy statement: Points to Consider for Informed Consent
for Genome/Exome Sequencing -- Appendix D. American College of Medical Genetics and Genomics policy statement: Updated Recommendations Regarding Analysis and
Reporting of Secondary Findings in Clinical
Genome-scale Sequencing
Degree
M.S.