Evidence map›Paper›PMID 36143296›Full record

ArticleJournal of personalized medicine2022

Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.

Anna Baker, Kasia Tolwinski, Jamie Atondo, F Daniel Davis, Jessica Goehringer, Laney K Jones, Cassandra J Pisieczko, Amy C Sturm, Janet L Williams, Marc S Williams and 2 more

Abstract read
In one paragraph

Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Anna BakerDepartment of Psychology, Bucknell University, Lewisburg, PA 17837, USA.
Kasia TolwinskiBiomedical Ethics Unit, McGill University, Montreal, QC H3A 0G4, Canada.
Jamie AtondoDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.
F Daniel DavisDepartment of Bioethics, Geisinger, Danville, PA 17822, USA.
Jessica GoehringerDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.
Laney K JonesDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.ORCID 0000-0002-6182-5634
Cassandra J PisieczkoDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.
Amy C SturmDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.
Janet L WilliamsDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.
Marc S WilliamsDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.ORCID 0000-0001-6165-8701
Alanna Kulchak RahmDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.ORCID 0000-0003-2513-9298
Adam H BuchananDepartment of Genomic Health, Geisinger, Danville, PA 17822, USA.ORCID 0000-0002-6518-2453

Funding

OMOP information model for eMERGE phenotypingU01HG008679 · NHGRI · GEISINGER CLINIC · PI WILLIAMS, MARC S. · 2015 to 2019
$4.4M
Geisinger Clinic SRC-S-57National Institute of Health 5U01-HG008679NHGRI NIH HHS U01 HG008679
6 · The paper itself

Abstract

Understanding unselected individuals' experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively sampled cohorts to seek diversity in result-related disease risk (e.g., cancer or cardiovascular) and in personal or family history of related diseases. Transcripts were analyzed using a two-step inductive coding process of broad thematic analysis followed by in-depth coding of each theme. Four thematic domains identified across all cohorts were examined: process assessment, psychosocial response, behavioral change due to the genetic result, and family communication. Coding of 63 interviews among 60 participants revealed that participants were satisfied with the results disclosure process, initially experienced a range of positive, neutral, and negative psychological reactions to results, adjusted positively to results over time, undertook clinically indicated actions in response to results, and communicated results with relatives to whom they felt emotionally close. Our findings of generally favorable responses to receiving clinically actionable genetic results via a genomic screening program may assuage fear of patient distress in such programs and guide additional biobanks, genomic screening programs, and research studies.

Indexed as

biobankgenetic testinggenomic screeningpatient experiencepsychological outcomes

Identifiers

PMID36143296
PMCPMC9501087

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.