Evidence map›Paper›PMID 34488686›Full record

SynthesisBMC pediatrics2021

The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.

Johanna Eichinger, Bernice S Elger, Insa Koné, Isabel Filges, David Shaw, Bettina Zimmermann, Stuart McLennan

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in BMC pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Clinical metagenomics: ethical issues.Journal of medical microbiology · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. 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

7 authors.

Johanna EichingerInstitute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland. johanna.eichinger@unibas.ch.
Bernice S ElgerInstitute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland.
Insa KonéInstitute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland.
Isabel FilgesMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland.
David ShawInstitute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland.
Bettina ZimmermannInstitute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland.
Stuart McLennanInstitute for Biomedical Ethics, University of Basel, Bernoullistrasse 28, 4056, Basel, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe use of genome-wide sequencing in pediatric medicine and research is growing exponentially. While this has many potential benefits, the normative and empirical literature has highlighted various ethical issues. There have not been, however, any systematic reviews of these issues. The aim of this systematic review is to determine systematically the spectrum of ethical issues that is raised for stakeholders in in pediatric genome-wide sequencing.

methodsA systematic review in PubMed and Google Books (publications in English or German between 2004 and 2021) was conducted. Further references were identified via reference screening. Data were analyzed and synthesized using qualitative content analysis. Ethical issues were defined as arising when a relevant normative principle is not adequately considered or when two principles come into conflict.

resultsOur literature search retrieved 3175 publications of which 143 were included in the analysis. Together these mentioned 106 ethical issues in pediatric genome-wide sequencing, categorized into five themes along the pediatric genome-wide sequencing lifecycle. Most ethical issues identified in relation to genome-wide sequencing typically reflect ethical issues that arise in general genetic testing, but they are often amplified by the increased quantity of data obtained, and associated uncertainties. The most frequently discussed ethical aspects concern the issue of unsolicited findings.

conclusionConcentration of the debate on unsolicited findings risks overlooking other ethical challenges. An overarching difficulty presents the terminological confusion: both with regard to both the test procedure/ the scope of analysis, as well as with the topic of unsolicited findings. It is important that the genetics and ethics communities together with other medical professions involved work jointly on specific case related guidelines to grant the maximum benefit for the care of the children, while preventing patient harm and disproportionate overload of clinicians and the healthcare system by the wealth of available options and economic incentives to increase testing.

Indexed as

Delivery of Health CareGenetic TestingChildHumansChildrenEthical, legal and social issuesGenome-wide sequencingPediatricsWhole exome sequencingWhole genome sequencing

Identifiers

PMID34488686
PMCPMC8420043

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.