The elusive ideal of inclusiveness: lessons from a worldwide survey of neurologists on the ethical issues raised by whole-genome sequencing

Abstract

The anticipation of ethical issues that may arise with the clinical use of genomic technologies is crucial to envision their future implementation in a manner sensitive to local contexts. Yet, populations in low- and middle-income countries are underrepresented in studies that aim to explore stakeholders’ perspectives on the use of such technologies. Within the framework of a research project entitled “Personalized medicine in the treatment of epilepsy”, we sought to increase inclusiveness by widening the reach of our survey, inviting neurologists from around the world to share their views and practices regarding the use of whole-genome sequencing in clinical neurology and its associated ethics. We discuss herein the compelling scientific and ethical reasons that led us to attempt to recruit neurologists worldwide, despite the lack, in many low- or middle-income countries, of access to genomic technologies. Recruitment procedures and their results are presented and discussed, as well as the barriers we faced. We conclude that inclusive recruitment remains a challenging, albeit necessary and legitimate, endeavour.

Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines

“…We likewise asked participants to forward the invitation to colleagues. The challenges faced in the recruitment of neurologists worldwide, as well as the complete procedures used to reach them are described in detail in a previous publication [ 24 ]. Online questionnaires and data collection were conducted by the IT department at Université de Montréal’s Public Health Research Institute (IRSPUM).…”

“…The survey questionnaire contained questions aimed at exploring neurologists’ views and perspectives on: (1) clinical practices with genetic/genomic testing (including WGS); (2) circumstances and/or conditions in which WGS should be offered to patients; (3) the potential benefits of the use of WGS; (4) concerns about the use of WGS, (5) the return of results; and (6) needs for training or resources in genomics/genetics [ 23 , 24 ]. This manuscript only focuses on neurologists’ views on the return of results and on their responsibility to recontact their patients as new mutations are discovered over time.…”

“…It is worth noting that the recruitment of health professionals has always been challenging, and response rates vary widely in this population, depending on numerous factors. This challenge was further addressed and discussed in a previous publication [ 24 ]. Although Web-based surveys are useful tools for timely and worldwide responses, additional measures need to be employed in order to increase the response rate and encourage participation.…”

Neurology in the Light of Genomics: Application of NGS and GWAS in Understanding Complex Neurological Disorders

“…Moreover, involvement of genomics related aspects compelled the scientific community and medical practitioners to raise concern. More rational and careful approach that ensures selection of the participants, collection of adequate number of samples, repetition of the experiments for the required number of times for a conclusive result, unbiased participants irrespective of the socio-economic background and presentation of impartial outcomes is the need of the time [109]. In case of neurological disorders, where it is often cumbersome to distinguish between a normal healthy and diseased condition, ethical issues play a major role.…”

Asymétrie de pouvoir dans les partenariats de recherche en santé mondiale : étude qualitative auprès de chercheurs en Côte d’Ivoire

“…Pour Hagaman et ses collègues, la saturation peut être atteinte dans des études qualitatives à partir d’une dizaine de participants (16). Enfin Hurlimann et ses collègues ont souligné les défis de recrutement auxquels les chercheurs font face dans des études impliquant des professionnels de la santé (17).…”