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

Abstract

To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter. Data were complete for 188 of 225 participants. The average time was 32 min for the intervention and 34 min for the standard, with the intervention encounter generating more questions from participants. At six weeks following consent, no differences were found between the two groups in primary outcomes: 'sequencing benefits' knowledge (d = 0.12, 95%CI: -0.03,0.27), 'sequencing limitations' knowledge (d = 0.04, 95%CI: -0.13,0.21), expected personal benefits (d = -0.01, 95%CI: -0.26,0.23), and decisional conflict (d = 0.04, 95%CI: -0.14,0.21). Although intentions to learn secondary variants were high, only 60% (113) of participants made an informed choice as defined by the multi-dimensional model of informed choice. We found that a modified consent intervention was as effective as a standard encounter and led to more interaction. Our data suggest that making decisions to receive secondary findings may be particularly challenging and in need of further investigation to achieve informed choice.

Making Clinical Trials More Patient-Centered Using Digital Interactive E-Consent Tools

“…20 Turbitt and colleagues similarly found a streamlined consent process to be equivalent to standard consent for participating in a genome sequencing study. 21 This evidence reinforces Agency for Healthcare Research and Quality guidance that information should be delivered in a way that is simple, clear, and concise. 22 In addition to responding to how information is presented, decision science recognizes individual factors that are also at play when making a decision to enroll in a clinical trial.…”

Old Challenges or New Issues? Genetic Health Professionals’ Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing

“…There is also a much greater likelihood of identifying variants that cannot be classified as either benign or pathogenic, referred to as variants of uncertain significance or VUS, increasing the uncertainty in relation to the results that may be returned (Turbitt et al. 2018 ; Vears et al. 2018 ).…”

“…This has included a recent study which used a randomized controlled trial to compare the consent encounters using a “standard” consent form for a genomic research study with an adapted consent form (Turbitt et al. 2018 ).…”

“…This difference is likely to impact the types of results that laboratories offer to return to patients and, as such, both the consent forms and the consent interactions would need to be adapted to be relevant to the clinical setting (Turbitt et al. 2018 ). For this reason, it is appropriate to explore the contexts separately – only then can the two be compared to determine how the differences between clinical and research settings need to be accommodated.…”

Challenges to informed consent for exome sequencing: A best–worst scaling experiment

“…The challenges to consent for exome sequencing are particularly salient in the pediatric setting where children undergoing a diagnostic workup have the potential to learn information about risk for unrelated adult onset conditions that could influence developing self‐identity (Miller, Werner‐Lin, Walser, Biswas, & Bernhardt, ; Werner‐Lin, Tomlinson, Miller, & Bernhardt, ). The decision to opt out of receiving medically actionable secondary findings should be made prior to undergoing testing, and parents who have difficulty grasping the potential consequences of the results may report lower confidence in their ability to make an informed choice (O’Daniel et al, ; Turbitt et al, ). Consent conversations with parents can also be complicated by the involvement of children in providing assent and the possible implications for parents and relatives when trio testing is ordered (Bernhard et al, ; Levenseller et al, ).…”