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

Life Sci Soc Policy 2018 Aug 1;14(1):17. Epub 2018 Aug 1.

Department of Human Genetics, Center of Genomics and Policy, McGill University, 740 Dr. Penfield Avenue, Montreal, Quebec, H3A 0G1, Canada.

Background: The 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.

Objectives: We 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?

Method: Through 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.

Results: Interviewees 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.

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

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Source
http://dx.doi.org/10.1186/s40504-018-0081-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068066PMC
August 2018
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(Supplied by CrossRef)

L Bonafe et al.
Am J Med Genet Part A 2015

H Burton et al.
2017

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