ArticleGenetic testing and molecular biomarkers2017
From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation.
Article in Genetic testing and molecular biomarkers, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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.
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.
Who cites it
3 citing papers in PubMed.
- Adolescents' Experiences With Sequencing for Genetic Predisposition in Pediatric Cancer: A Quantitative Study.Psycho-oncology · 2026Article
- Issues in the Use of Human Tissues to Support Precision Medicine.Journal of health care for the poor and underserved · 2019Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
A discussion of return of genetic research results requires a common understanding of how final results are generated and what the scope of potential results may be. To this end, we provide a brief overview of the steps by which human genomic data, whether in the clinical or research setting, are generated and interpreted. We cover (1) DNA targeting methods, (2) sequencing, (3) mapping, (4) variant calling, (5) annotation, and (6) interpretation. As powerful as this technology is, we point out technical, scientific, and clinical limitations that inject uncertainty into interpretations based on genotypic data alone. Given these considerations, we then discuss ethical issues that arise as decisions are made regarding how human genomic data are generated and interpreted in the research setting, and we propose an ethical framework by which researchers can assert policies at the points of control that maximize rewards, while minimizing risks.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.