A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

Area of Science:

• Genomic Medicine
• Bioethics
• Informed Consent

Background:

• Genome sequencing studies offer significant potential but involve complex information, making informed consent challenging.
• Standard consent forms are often lengthy and difficult for participants to fully comprehend.
• The effectiveness of different professional encounters in facilitating informed choice for sequencing studies is not well understood.

Purpose of the Study:

• To evaluate the efficacy of a modified, lower-literacy consent intervention compared to a standard consent encounter for genome sequencing studies.
• To assess the impact of the consent intervention on participants' knowledge of sequencing benefits and limitations, expected personal benefits, and decisional conflict.
• To determine the rate of informed choice among participants regarding the potential for primary and secondary findings in genome sequencing.

Main Methods:

• Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized into two groups.
• One group received a consent intervention using a lower-literacy, less dense form, while the other had a standard consent encounter.
• Primary outcomes, including knowledge and decisional conflict, were assessed six weeks post-consent. The rate of informed choice was also evaluated.

Main Results:

• No significant differences were observed between the intervention and standard groups in knowledge of sequencing benefits/limitations or expected personal benefits.
• Decisional conflict levels were also similar between the two groups.
• The modified consent intervention generated more participant questions, but only 60% of all participants achieved an informed choice, particularly concerning secondary findings.

Conclusions:

• A modified consent intervention for genome sequencing studies is as effective as standard consent in terms of knowledge and decisional conflict.
• The intervention facilitated greater participant interaction and questioning.
• Achieving informed choice, especially regarding secondary findings in genome sequencing, remains a significant challenge requiring further research and improved strategies.