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Variation among Consent Forms for Clinical Whole Exome Sequencing.

Sara A Fowler1, Carol J Saunders2,3,4, Mark A Hoffman5,6

  • 1Department of Biomedical and Health Informatics, University of Missouri-Kansas City, Kansas City, MO, USA.

Journal of Genetic Counseling
|July 10, 2017
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Summary

Informed consent documents for whole exome sequencing (WES) show significant variability and poor readability, failing to consistently meet expert recommendations. Standardizing these documents can improve patient understanding of genetic testing.

Keywords:
BioethicsExome sequencingInformaticsInformed consent

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Area of Science:

  • Genetics
  • Bioethics
  • Medical Informatics

Background:

  • Informed consent is crucial for clinical whole exome sequencing (WES).
  • Existing recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) provide guidelines for WES informed consent.
  • Variability in consent documents may impact patient comprehension and ethical practice.

Purpose of the Study:

  • To assess the consistency of clinical whole exome sequencing (WES) informed consent documents with ACMG and Bioethics Commission recommendations.
  • To identify variations in content and readability among WES informed consent forms.

Main Methods:

  • Content analysis of 18 informed consent documents for clinical WES obtained from laboratory websites.
  • Evaluation of document content against a framework derived from ACMG and Bioethics Commission recommendations.
  • Readability assessment using the Flesch-Kincaid Grade Level.

Main Results:

  • Considerable variability was observed in the content of informed consent documents across the 18 laboratories.
  • The average Flesch-Kincaid Grade Level was 10.8, exceeding the recommended 8th-grade level.
  • Inclusion of specific ACMG and Bioethics Commission recommendations varied widely (11% to 100%), with an average of 13.44 out of 18 consent items included.

Conclusions:

  • Informed consent documents for clinical WES exhibit significant variation and readability challenges.
  • Standardization of informed consent processes is needed to align with expert recommendations.
  • Improved, standardized consent forms can enhance clinician-patient communication and understanding of genetic testing implications.