Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium

Per Med. 2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17.

Abstract

Implementing genome and exome sequencing in clinical practice presents challenges, including obtaining meaningful informed consent. Consent may be challenging due to test limitations such as uncertainties associated with test results and interpretation, complexity created by the potential for additional findings and high patient expectations. We drew on the experiences of research teams within the Clinical Sequencing Exploratory Research (CSER1) Consortium on informed consent for clinical genome and exome sequencing (CGES) to negotiate consensus considerations. We present six considerations for clinicians and 12 key points to communicate as they support patients in deciding whether to undergo CGES. These considerations and key points provide a helpful starting point for informed consent to CGES, grounded in the Clinical Sequencing Exploratory Research (CSER1) experience.

Keywords: Clinical Sequencing Exploratory Research (CSER1) consortium; ELSI; clinical genome and exome sequencing; dynamic consent; informed consent; staged consent.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Decision Making
  • Ethics, Medical
  • Genome, Human
  • High-Throughput Nucleotide Sequencing / ethics
  • Humans
  • Informed Consent / legislation & jurisprudence*
  • Practice Guidelines as Topic
  • Whole Exome Sequencing / ethics*

Grant support