Evidence map›Paper›PMID 35309003›Full record

ArticleAMIA ... Annual Symposium proceedings. AMIA Symposium2021

Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance.

Harsh V Patel, Nora B Henrikson, James D Ralston, Kathleen Leppig, Aaron Scrol, Gail P Jarvik, Shannon DeVange, Eric B Larson, Andrea L Hartzler

Abstract read
In one paragraph

Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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

1 citing paper in PubMed.

  1. Trial
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

9 authors.

Harsh V PatelUniversity of Washington, Seattle Washington.
Nora B HenriksonKaiser Permanente Washington Health Research Institute, Seattle Washington.
James D RalstonKaiser Permanente Washington Health Research Institute, Seattle Washington.
Kathleen LeppigUniversity of Washington, Seattle Washington.
Aaron ScrolKaiser Permanente Washington Health Research Institute, Seattle Washington.
Gail P JarvikUniversity of Washington, Seattle Washington.
Shannon DeVangeUniversity of Washington, Seattle Washington.
Eric B LarsonKaiser Permanente Washington Health Research Institute, Seattle Washington.
Andrea L HartzlerUniversity of Washington, Seattle Washington.

Funding

University of Washington Biomedical Informatics and Data Science Research Training ProgramT15LM007442 · NLM · UNIVERSITY OF WASHINGTON · PI JOHN H. GENNARI, Andrea L. Hartzler · 2002 to 2026
$19.6M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Using Biomedical Knowledge to Identify Plausible Signals for PharmacovigilanceR01LM011563 · NLM · UNIVERSITY OF WASHINGTON · PI COHEN, TREVOR · 2013 to 2020
$3.0M
NHGRI NIH HHS U01 HG008657NLM NIH HHS R01 LM011563NLM NIH HHS T15 LM007442
6 · The paper itself

Abstract

Precision medicine presents challenges for effective return of results (ROR) to patients, particularly for variants of uncertain significance (VUS) where the need for genetic counseling and the impact of results are underexplored. We investigated patients' experiences with VUS ROR. Through interviews we compared experiences of patients who were referred to genetic counseling with those not referred. Although participants from both groups (n=16) reported curious enthusiasm and relief after ROR, the 5 referred participants reported less confusion, less disappointment, and better confidence in understanding their results than the 11 non-referred participants. Although VUS did not impact healthcare or daily lives, some participants who shared VUS fostered communication about future healthcare. Suggested ROR improvements included patient-friendly terminology, on-demand education, and ongoing consultation. Although patient experience of VUS improved when ROR involved expert consultation, scarcity of genetic counselors presents challenges. Improving the ROR process with patient-centered solutions could enhance the patient experience of receiving VUS.

Indexed as

Genetic CounselingGenetic TestingGenetic Predisposition to DiseaseHumansPatient Outcome Assessment

Identifiers

PMID35309003
PMCPMC8861684

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.