Evidence map›Paper›PMID 38050060›Full record

ArticleJournal of medical genetics2024

Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.

Melody Grace Redman, Rachel Helen Horton, Helena Carley, Anneke Lucassen

Abstract read
In one paragraph

Article in Journal of medical genetics, 2024. 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.

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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.

Melody Grace RedmanYorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.ORCID 0000-0003-3112-3188
Rachel Helen HortonCentre for Personalised Medicine, Nuffield Department of Medicine, Wellcome Trust Centre for Human Genetics, Oxford, Oxfordshire, UK.ORCID 0000-0001-6080-6354
Helena CarleySouth East Thames Regional Genetics Service, Guy's Hospital, London, UK.
Anneke LucassenCentre for Personalised Medicine, Nuffield Department of Medicine, Wellcome Trust Centre for Human Genetics, Oxford, Oxfordshire, UK anneke.lucassen@well.ox.ac.uk.

Funding

Wellcome Trust 208053/B/17/ZWellcome Trust 218092Wellcome Trust 218092/A/19/Z
6 · The paper itself

Abstract

backgroundThe terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important context for the interpretation of genomic data, but the language used, and practices around when to ascertain this, vary.

methodsUsing a fictional case scenario we explore the relevance of questions around ancestry, race and ethnicity in clinical genetic practice.

resultsIn the UK, data on 'ethnicity' are routinely collected by those using genomic medicine, as well as within the wider UK National Health Service, although the reasons for this are not always clear to practitioners and patients. Sometimes it is requested as a proxy for biological lineage to aid variant interpretation, refine estimations of carrier frequency and guide decisions around the need for pharmacogenetic testing.

conclusionThere are many challenges around the use and utility of these terms. Currently, genomic databases are populated primarily with data from people of European descent, and this can lead to health disparities and poorer service for minoritised or underserved populations. Sensitivity and consideration are needed when communicating with patients around these areas. We explore the role and relevance of language around biological lineage in clinical genetics practice.

Indexed as

EthnicityState MedicineHumansLanguageancestryethnicitygenomicshuman geneticsrace

Identifiers

PMID38050060
PMCPMC10982622

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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.