Table 1 Main challenges. This table presents interviewees’ answers to the following question: “what would you say is the main challenge for clinical exome sequencing to succeed in your country/province?”
From: Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
France | Quebec | ||
|---|---|---|---|
Cancer | Principal Investigator | Managing the complexity of the data and of cancer | Give targeted molecules identified through WES to patients |
Clinician | Data analysis | Data interpretation | |
Bioinformatician | More rapid and efficient data analysis process | Standardized use of analysis software and pipelines | |
Head of biochemistry lab | Standard clinical analysis of exome data | ||
Rare Diseases | Principal Investigator | Education of practitioners to genomics | Gather support from all relevant stakeholders to enable the implementation of the technology in the public healthcare system |
Clinician | Education of biologists and clinicians who participate to data analysis and interpretation | Time and availability of qualified analysis to interpret the flow of data. | |
Researcher | Variants clinical interpretation | ||
Bioinformatician | Challenges linked to the bioinformatician profession, interdisciplinary and at crossroads between biology and computer science | Standardized bioinformatic pipeline for clinical data analysis. More investment in required storage and processing infrastructure | |