Evidence map›Paper›PMID 41193835›Full record

ArticleEuropean journal of human genetics : EJHG2026

Advancing towards clear and patient-centred language in cancer genetics.

Saar Van Pottelberghe, Frederik J Hes, Maurizio Genuardi

Abstract read
In one paragraph

Article 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 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. 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

3 authors.

Saar Van Pottelberghe *Centre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.ORCID http://orcid.org/0000-0001-9531-9601
Frederik J Hes *Centre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium. Frederik.hes@uzbrussel.be.ORCID http://orcid.org/0000-0002-3025-0882
Maurizio Genuardi *Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID http://orcid.org/0000-0002-7410-8351

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Language in clinical genetics is never neutral. The terms used to describe genetic concepts, like mutation or variant, sporadic or hereditary, patient or counselee not only shape scientific discourse but also profoundly affect how individuals understand their risks, experience counselling, and make decisions. Terminology carries ethical weight, influencing perceptions of identity, stigma, and inclusion. Precision and empathy in language are therefore central to ethical and effective care. We propose the use of consistent terminology in communication that integrates three ethical responsibilities, promoting inclusivity through careful terminology, fostering psychosocial awareness by recognising that words can evoke fear or stigma, or offer reassurance and communicative clarity. This can be achieved by standardising professional terminology (e.g., variant, sporadic/hereditary) while co-constructing meaning with counselees. We recommend avoiding ambiguous labels like positive or negative, using precise qualifiers for variants and harmonising language across professional disciplines. Communication itself can be a clinical intervention, as careful paraphrasing and clarification both enhance understanding and provide emotional support. As genetic testing becomes increasingly mainstream in oncology, empathetic, precise, and patient-centred communication is essential. By fostering clarity and reducing stigma, language can support informed decision-making, trust, and ultimately, the ethical integration of genetics into everyday healthcare.

Indexed as

Genetic CounselingGenetic TestingNeoplasmsTerminology as TopicCommunicationHumansPatient-Centered Care

Identifiers

PMID41193835
PMCPMC13550583

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.