Evidence map›Paper›PMID 35122362›Full record

ArticleJournal of genetic counseling2022

Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients.

Alma Levin Fridman, Aviad Raz, Stefan Timmermans, Shiri Shkedi-Rafid

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Trial
  2. Article
  3. 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

4 authors.

Alma Levin FridmanDepartment of Sociology and Anthropology, Ben-Gurion University of the Negev, Be'er Sheva, Israel.
Aviad RazDepartment of Sociology and Anthropology, Ben-Gurion University of the Negev, Be'er Sheva, Israel.ORCID 0000-0001-6268-0409
Stefan TimmermansDepartment of Sociology, UCLA, Los Angeles, California, USA.
Shiri Shkedi-RafidDepartment of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Funding

Binational US-Israel Science Foundation 2018027Israel Science Foundation 272/19
6 · The paper itself

Abstract

While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on qualitative analysis of semi-structured interviews conducted in 2020 with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Respondents described four main strategies of communicating VUSs to patients: preparing the patient pre-test for uncertainty; adapting the level of detail to the patient's needs; upgrading versus downgrading the VUS; and following up on the possible reclassification of VUSs. These strategies were expressed differently by physicians and genetic counselors, varying according to their specialty and perception of the patient's situation. We discuss the strategic management and communication of uncertain genomic test results with patients in the context of meeting patients' expectations and working toward genetic causality through genomic narration and designation.

Indexed as

CounselorsGenetic TestingCommunicationDelivery of Health CareHumansIsraelcommunicationgenomic designationuncertaintyvariant classificationvariant of uncertain significance

Identifiers

PMID35122362
PMCPMC9541910

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.