Evidence map›Paper›PMID 30066179›Full record

ArticleLife sciences, society and policy2018

Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?

Gabrielle Bertier, Yann Joly

Abstract read
In one paragraph

Article in Life sciences, society and policy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

2 authors.

Gabrielle BertierDepartment of Human Genetics, Center of Genomics and Policy, McGill University, 740 Dr. Penfield Avenue, Montreal, Quebec, H3A 0G1, Canada. gabrielle.bertier@mail.mcgill.ca.ORCID http://orcid.org/0000-0002-3319-3721
Yann JolyDepartment of Human Genetics, Center of Genomics and Policy, McGill University, 740 Dr. Penfield Avenue, Montreal, Quebec, H3A 0G1, Canada.

Funding

Canadian Institutes of Health Research EXACTISFonds de Recherche du Québec - Santé 30719Mitacs Globalinks Research Award IT06972Network of Applied Genetic Medicine Fellowship in Applied Genetics 2015Université Toulouse III - Paul Sabatier Axes stratégiques 2014
6 · The paper itself

Abstract

backgroundThe decreasing cost of next-generation sequencing technologies (NGS) has resulted in their increased use in research, and in the clinic. However, France and Quebec have not yet implemented nation-wide personalized medicine programs using NGS. To produce policies on the large-scale implementation of NGS, decision makers could benefit from a detailed understanding of how these technologies are currently used, their limitations, and the benefits they could bring to patients.

objectivesWe aimed at answering two research questions: How are patients' NGS data currently managed in healthcare institutions in Quebec and in France? What issues do technology users identify which should be solved in order to implement clinical genomics at the national level?

methodThrough a multiple case study method, we analysed interviews and documentation from four teams that use whole-exome sequencing in hybrid clinical research projects focusing on cancer and rare diseases.

resultsInterviewees detailed numerous challenges linked with managing the complexity of the process of collecting and interpreting data in a relevant manner for patients, and described how obtaining buy-in from multiple stakeholders was necessary.

conclusionA strong political will is essential for personalized medicine to be implemented efficiently in France and Quebec.

Indexed as

ForecastingFranceHigh-Throughput Nucleotide SequencingHumansQuebecTranslational Research, BiomedicalCancer geneticsFrance and QuebecHealthcare systemsHealth policyMultiple case studyNext-generation sequencingRare diseasesWhole-exome sequencing

Identifiers

PMID30066179
PMCPMC6068066

What OpenQuestion holds

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LicenceCC BY
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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.