Evidence map›Paper›PMID 29970927›Full record

ArticleEuropean journal of human genetics : EJHG2018

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.

Marlies Saelaert, Heidi Mertes, Elfride De Baere, Ignaas Devisch

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 4 pooled it
–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

22 citing papers in PubMed, 4 syntheses or guidelines pooled it.

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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.

Marlies SaelaertDepartment of Family Medicine and Primary Health Care, Ghent University, Ghent, Belgium. Marlies.Saelaert@ugent.be.ORCID http://orcid.org/0000-0002-3607-1578
Heidi MertesDepartment of Philosophy and Moral Sciences, Bioethics Institute Ghent, Ghent University, Ghent, Belgium.
Elfride De BaereCenter for Medical Genetics Ghent (CMGG), Ghent University and Ghent University Hospital, Ghent, Belgium.
Ignaas DevischDepartment of Family Medicine and Primary Health Care, Ghent University, Ghent, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Incidental or secondary findings (ISFs) in whole exome or whole genome sequencing have been widely debated in recent literature. The American College of Medical Genetics and Genomics' recommendations on diagnostic ISFs have strongly catalyzed the discussion, resulting in worldwide reactions and a variety of international guidelines. This article will outline how propositions on levels of terminology, policy, and underlying values are still internationally criticized and adjusted. Unsolved questions regarding ISFs include a suitable terminology, adequate counseling or informed consent procedures, opt-out possibilities, reporting ISFs to (parents of) minors and values regarding professional duty, patient autonomy, and actionability. These questions will be characterized as intrinsically related and reciprocally maintained and hence, symptomatic, single-level reflections will be marked as ineffective. Instead, a level-integrative approach of the debate that explicitly acknowledges this interaction and considers a balance between internationally significant and case-specific solutions, will be advocated. Second, the inclusion of a patient perspective will be strongly encouraged to complement the professional preponderance in the current debate. The examination of lived patient experiences, a qualitative focus on the subjective meaning of ISFs, and a contextualization of meaning processes will be suggested as specific concretizations. This integrative and inclusive approach aims for a more comprehensive understanding of ISFs, a consideration of all relevant stakeholders' perspective and, ultimately, an effective health-care policy.

Indexed as

Incidental FindingsExomeGenetic TestingGenome, HumanGenomicsHumansPolicyUnited StatesWhole Genome Sequencing

Identifiers

PMID29970927
PMCPMC6138744

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.