Evidence map›Paper›PMID 39900745›Full record

SynthesisEuropean journal of human genetics : EJHG2026

Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review.

Lea Godino, Daniela Turchetti, Vanessa Gentili, Paolo Chiari, Alvisa Palese

Abstract readSystematic ReviewReview
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Advances in genomic medicine: from diagnosis to patient perspectives.European journal of human genetics : EJHG · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. 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.

Lea GodinoMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. lea.godino@students.uniroma2.eu.ORCID 0000-0002-3763-9372
Daniela TurchettiMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID 0000-0002-6792-3921
Vanessa GentiliDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Paolo ChiariDepartment of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Alvisa PaleseDepartment of Medical Sciences, University of Udine, Udine, Italy.ORCID 0000-0002-3508-844X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing has revolutionized the identification of individuals at increased risk for various hereditary conditions, enabling early intervention and preventive measures. However, effective cascade counseling and testing depends on successful intra-familial communication. This mixed-method systematic review aimed to explore the general population's perspectives and preferences regarding the communication of potential genetic risk information by healthcare professionals. This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered in the International Prospective Register of Systematic Reviews database (CRD42024532829). A comprehensive search of six databases yielded 17,292 records. After removing duplicates and screening for relevance, nine studies were included in the final analysis, conducted across diverse Western countries using both qualitative and quantitative designs. Results indicated a preference for healthcare-mediated communication, particularly through formal methods as letters, valued for their clarity and reliability. The role of family-mediated communication is nuanced, influenced by interpersonal relationship quality and the emotional burden of disclosing sensitive information. Ethical and legal considerations highlighted public support for overriding confidentiality in treatable conditions, while emphasizing respect for individual privacy and autonomy in untreatable conditions. This review underscores the importance of understanding public preferences to develop tailored communication strategies that balance professional involvement with respect for individual and familial dynamics. Healthcare professionals should be trained to provide empathetic, clear, and accurate information, considering the specific needs and contexts of at-risk individuals.

Indexed as

CommunicationGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHealth PersonnelPublic OpinionHumans

Identifiers

PMID39900745
PMCPMC13047033

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.