Gabrielle Bertier

The role of a bioresource research impact factor as an incentive to share human bioresources

The role of a bioresource research impact factor as an incentive to share human bioresources

Integrating precision cancer medicine into healthcare—policy, practice, and research challenges

Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make PM a reality today through the use of massive amounts of genetic, ‘omics’, clinical, environmental, and lifestyle data. With cancer being one of the most prominent public health threats in developed countries, both the research community and governments have been investing significant time, money, and efforts in precision cancer medicine (PCM). Although PCM research is extremely promising, a number of hurdles still remain on the road to an optimal integration of standardized and evidence-based use of PCM in healthcare systems. Indeed, PCM raises a number of technical, organizational, ethical, legal, social, and economic challenges that have to be taken into account in the development of an appropriate health policy framework. Here, we highlight some of the more salient issues regarding the standards needed for integration of PCM into healthcare systems, and we identify fields where more research is needed before policy can be implemented. Key challenges include, but are not limited to, the creation of new standards for the collection, analysis, and sharing of samples and data from cancer patients, and the creation of new clinical trial designs with renewed endpoints. We believe that these issues need to be addressed as a matter of priority by public health policymakers in the coming years for a better integration of PCM into healthcare.

Unsolved challenges in pediatric whole-exome sequencing: A literature analysis

Abstract Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. In order to identify what challenges were directly foreseen by technology users, we performed a systematic review of the literature. In this paper, we focus on recent publications related to the use of WES in the pediatric context and analyze the most prominent challenges raised by technology users. This is particularly relevant considering that a) most patients currently undergoing testing using WES to identify the genetic basis for rare diseases are children and b) their lack of capacity to consent for themselves makes them a vulnerable population and generates the need for specific ethical, legal and regulatory procedures. We identified key challenges that related to four main categories: (1) intake; (2) sequence production and analysis; (3) reporting of results and counseling considerations and (4) collaborative data interpretation and data sharing. We then contextualize these challenges in light of the recent recommendations and guidelines, published by professional societies that have significant potential to impact the field.

Genome-based newborn screening: a conceptual analysis of the best interests of the child standard

Advances in genome-based sequencing technologies now allows for numerous genes to be analyzed in a single test, compared with previous gene-by-gene approaches [1]. While genome-based sequencing is gradually integrated into clinical care, there is also a strong push to use these technologies in public health settings [2–4], such as newborn screening programs [2,5]. In line with this interest, the US NIH recently invested US

Professionals' attitudes regarding large-scale genetic information generated through next generation sequencing in research: a pilot study.

25 million to study the medical and ethical implications of genomebased sequencing of newborns, although the plethora of issues this might pose are well recognized [6–7]. One issue relates to the paradigm shift in public health programs this use of genomic sequencing would create [6–8]. Since their introduction in the 1960s, the focus of newborn screening programs has been the identification of asymptomatic newborns with rare metabolic disorders, to allow timely interventions that significantly decrease morbidity and mortality. As the best interests of the child (BIC) was the core principle [8], selection of conditions was limited to those where newborns left untreated would suffer from severe illnesses, and early intervention carried definitive medical benefit [9]. In certain regions, the progressive use of new screening technologies has historically led to relaxing of the traditional criteria to screen only for early-onset, treatable conditions [10]. As a result, screening programs have occasionally shifted away from using the BIC as the primary consideration to justify inclusion of conditions in the screening panel. In addition, the nature of the information provided through genome-based newborn screening poses additional hurdles for determining what is within the scope of the BIC at individual, familial and populational levels and the appropriateness of the BIC argument in the newborn screening setting. This article therefore discusses the legal concept of BIC at a theoretical level.

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

Under the auspices of a multi-national European scientific project involving whole genome sequencing, GEUVADIS, we set out to investigate the attitudes of the participating scientists of having their own genome sequenced. The views of such researchers on this subject have not been fully explored before and we utilized questionnaires and discussion groups to elicit their opinions. Many said that it was the first time that they had an opportunity to discuss ethical and social issues about sequencing. The many ongoing multi-national science projects present a good opportunity for social science research involving scientists and would benefit from rigorous research methodology, taking into account any language barriers.

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views

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.