Dataset Information

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.

ABSTRACT:

Objective

Many people prefer to learn secondary or "additional" findings from genomic sequencing, including findings with limited medical actionability. Research has investigated preferences for and effects of learning such findings, but not psychosocial and behavioral effects of receiving education about them and the option to request them, which could be burdensome or beneficial (e.g., causing choice overload or satisfying strong preferences, respectively).

Methods

335 adults with suspected genetic disorders who had diagnostic exome sequencing in a research study and were randomized to receive either diagnostic findings only (DF; n = 171) or diagnostic findings plus education about additional genomic findings and the option to request them (DF + EAF; n = 164). Assessments occurred after enrollment (Time 1), after return of diagnostic results and-for DF + EAF-the education under investigation (Time 2), and three and six months later (Times 3, 4).

Results

Time 2 test-related distress, test-related uncertainty, and generalized anxiety were lower in the DF + EAF group (ps = 0.025-0.043). There were no other differences.

Conclusions

Findings show limited benefits and no harms of providing education about and the option to learn additional findings with limited medical actionability.

Practice implications

Findings can inform recommendations for returning additional findings from genomic sequencing (e.g., to research participants or after commercial testing).

SUBMITTER: Rini C

PROVIDER: S-EPMC8553797 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.

Rini Christine C Roche Myra I MI Lin Feng-Chang FC Foreman Ann Katherine M AKM Khan Cynthia M CM Griesemer Ida I Waltz Margaret M Lee Kristy K O'Daniel Julianne M JM Evans James P JP Berg Jonathan S JS Henderson Gail E GE

Patient education and counseling 20210429 12

<h4>Objective</h4>Many people prefer to learn secondary or "additional" findings from genomic sequencing, including findings with limited medical actionability. Research has investigated preferences for and effects of learning such findings, but not psychosocial and behavioral effects of receiving education about them and the option to request them, which could be burdensome or beneficial (e.g., causing choice overload or satisfying strong preferences, respectively).<h4>Methods</h4>335 adults wi ...[more]

PMID: 33966955

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Project description:ImportanceNo new tobacco cessation medication has been licensed in the US since 2006. Cytisine, a plant-based partial agonist of nicotinic acetylcholine receptors, has demonstrated safety and efficacy in several randomized clinical trials and is currently available in many countries. However, the drug is not commercially available in the US. A New Drug Application to license cytisine as a smoking cessation medication in the US is being prepared for review by the US Food and Drug Administration, whose request for additional safety data will delay submission of the application by approximately 1 year.ObjectiveTo project the potential public health impact of cytisine, and delays in its availability, as a smoking cessation aid in the US.Design, setting, and participantsThis mathematical model estimated life expectancy gains from smoking cessation for people aged 18 to 99 years in the US, reflecting the civilian, noninstitutionalized population. The model also accounted for cytisine uptake and effectiveness, as well as potential relapse among people who stop smoking.ExposureCytisine availability as a tobacco cessation treatment immediately or after 1 year.Main outcomes and measuresThe main outcomes were the number of adults able to stop smoking and sustain long-term abstinence and aggregate life-years gained.ResultsThe base case includes an estimated 29.4 million US civilian noninstitutionalized adults who smoke cigarettes (age distribution, 18-24 years: 5.5%; 25-44 years: 37.3%; 45-64 years: 41.8%; ≥65 years: 15.5%). With a conservative assumption that 3.8% of these individuals would use cytisine in the first year of availability, immediate cytisine availability could lead 71 000 more people to quit smoking over 1 year and maintain long-term abstinence. This would produce more than 500 000 additional life-years compared to the status quo in which cytisine is unavailable and fewer people stop smoking. Each additional year of delay in the availability of cytisine might reduce population-level life expectancy by 10 000 years. The model results were most sensitive to changes in cytisine uptake and effectiveness.Conclusions and relevanceSmoking cessation generates large gains in life expectancy. This mathematical model demonstrated that immediate cytisine availability, even if used successfully by only a small fraction of people who smoke, could produce major public health benefits. Given the need for new tobacco cessation pharmacotherapy options, the magnitude of cytisine's potential public health benefits, and the morbidity and mortality associated with delay in its availability, a timely review of cytisine for approval in the US is warranted.

Dataset Information

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.

Objective

Methods

Results

Conclusions

Practice implications

Publications

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.

Similar Datasets

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