Evidence map›Paper›PMID 32921787›Full record

SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2021

Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.

Chloe Mighton, Salma Shickh, Elizabeth Uleryk, Petros Pechlivanoglou, Yvonne Bombard

Abstract readMeta-AnalysisSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 4 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

51 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. How variants of uncertain significance affect clinical decisions: A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Genetic risk in telomere biology disorders: it adds up.The Journal of clinical investigation · 2025
    Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

5 authors.

Chloe MightonInstitute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada.
Salma ShickhInstitute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada.
Elizabeth UlerykE.M. Uleryk Consulting, Mississauga, ON, Canada.
Petros PechlivanoglouInstitute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada.
Yvonne BombardInstitute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada. Yvonne.Bombard@utoronto.ca.ORCID http://orcid.org/0000-0002-9516-4539

Funding

CIHR GSD-164222
6 · The paper itself

Abstract

This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel testing or genomic sequencing. MEDLINE and EMBASE were searched. Two reviewers screened studies and extracted data. Data were synthesized through meta-analysis and meta-aggregation. The search identified 4539 unique studies and 15 were included in the review. Patients with VUS reported higher genetic test-specific concerns on the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale than patients with negative results (mean difference 3.73 [95% CI 0.80 to 6.66] P = 0.0126), and lower than patients with positive results (mean difference -7.01 [95% CI -11.31 to -2.71], P = 0.0014). Patients with VUS and patients with negative results were similarly likely to have a change in their clinical management (OR 1.41 [95% CI 0.90 to 2.21], P = 0.182), and less likely to have a change in management than patients with positive results (OR 0.09 [95% CI 0.05 to 0.19], P < 0.0001). Factors that contributed to how patients responded to their VUS included their interpretation of the result and their health-care provider's counseling and recommendations. Review findings suggest there may be a need for practice guidelines or clinical decision support tools for VUS disclosure and management.

Indexed as

Genetic Predisposition to DiseaseGenetic TestingChromosome MappingGenomicsHumansclinical outcomesgenetic testingpsychologicaloutcomessystematic reviewvariant of uncertain significance

Identifiers

PMID32921787

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.