Evidence map›Paper›PMID 33087101›Full record

ArticleBMC medical ethics2020

Genetic testing for breast cancer risk, from BRCA1/2 to a seven gene panel: an ethical analysis.

Erik Gustavsson, Giovanni Galvis, Niklas Juth

Open access · goldAbstract read
In one paragraph

Article in BMC medical ethics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 28% of its field
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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. 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 at 2 institutions in 1 country.

Erik GustavssonDivision of Society and Health, Department of Health, Medicine and Caring Sciences, Linköping University, 581 83, Linköping, Sweden. erik.gustavsson@liu.se.ORCID 0000-0001-5448-9209
Giovanni GalvisDivision of Society and Health, Department of Health, Medicine and Caring Sciences, Linköping University, 581 83, Linköping, Sweden.
Niklas JuthLIME, Stockholm Centre for Healthcare Ethics, Karolinska Institutet, Stockholm, Sweden.
Linköping University · SEKarolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic testing is moving from targeted investigations of monogenetic diseases to broader testing that may provide more information. For example, recent health economic studies of genetic testing for an increased risk of breast cancer suggest that it is associated with higher cost-effectiveness to screen for pathogenic variants in a seven gene panel rather than the usual two gene test for variants in BRCA1 and BRCA2. However, irrespective of the extent to which the screening of the panel is cost-effective, there may be ethical reasons to not screen for pathogenic variants in a panel, or to revise the way in which testing and disclosing of results are carried out. MAIN TEXT: In this paper we discuss the ethical aspects of genetic testing for an increased risk of breast cancer with a special focus on the ethical differences between screening for pathogenic variants in BRCA1/2 and a seven gene panel. The paper identifies that the panel increases the number of secondary findings as well as the number of variants of uncertain significance as two specific issues that call for ethical reflection.

conclusionsWe conclude that while the problem of handling secondary findings should not be overstated with regard to the panel, the fact that the panel also generate more variants of uncertain significance, give rise to a more complex set of problems that relate to the value of health as well as the value of autonomy. Therefore, it is insufficient to claim that the seven gene panel is preferable by only referring to the higher cost effectiveness of the panel.

Indexed as

Breast NeoplasmsBRCA1 ProteinEthical AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMutationBRCA1 ProteinBRCA1 protein, humanBreast cancerEthicsGenetic testingSecondary findingsVariants of uncertain significance

Identifiers

PMID33087101
PMCPMC7579789
OpenAlexW3094494073

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.