Evidence map›Paper›PMID 34426854›Full record

ReviewHuman genetics2022

Ethical considerations in gene selection for reproductive carrier screening.

Lisa Dive, Alison Dalton Archibald, Ainsley J Newson

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

19 citing papers in PubMed.

  1. Article
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  10. Editorial: severity in a genomic age.European journal of human genetics : EJHG · 2025
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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

3 authors.

Lisa DiveFaculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Level 1, Edward Ford Building A27, Sydney, NSW, 2006, Australia.ORCID http://orcid.org/0000-0001-6655-5138
Alison Dalton ArchibaldVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-4496-8262
Ainsley J NewsonFaculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Level 1, Edward Ford Building A27, Sydney, NSW, 2006, Australia. ainsley.newson@sydney.edu.au.ORCID http://orcid.org/0000-0002-3460-772X

Funding

Medical Research Future Fund GHFM73390 (MRFF-G-MM)
6 · The paper itself

Abstract

Genetic carrier screening for reproductive purposes has existed for half a century. It was originally offered to particular ethnic groups with a higher prevalence of certain severe recessive or X-linked genetic conditions, or (as carrier testing) to those with a family history of a particular genetic condition. Commercial providers are increasingly offering carrier screening on a user-pays basis. Some countries are also trialing or offering public reproductive genetic carrier screening with whole populations, rather than only to those known to have a higher chance of having a child with an inherited genetic condition. Such programs broaden the ethical and practical challenges that arise in clinical carrier testing. In this paper we consider three aspects of selecting genes for population reproductive genetic carrier screening panels that give rise to important ethical considerations: severity, variable penetrance and expressivity, and scalability; we also draw on three exemplar genes to illustrate the ethical issues raised: CFTR, GALT and SERPINA1. We argue that such issues are important to attend to at the point of gene selection for RGCS. These factors warrant a cautious approach to screening panel design, one that takes into account the likely value of the information generated by screening and the feasibility of implementation in large and diverse populations. Given the highly complex and uncertain nature of some genetic variants, careful consideration needs to be given to the balance between delivering potentially burdensome or harmful information, and providing valuable information to inform reproductive decisions.

Indexed as

FamilyGenetic TestingChildGenetic Carrier ScreeningHumans

Identifiers

PMID34426854
PMCPMC9160090

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.