Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method

Abstract

Driven by technological and scientific advances, the landscape of genetic medicine is rapidly changing, which complicates strategic planning and decision-making in this area. To address this uncertainty, we sought to understand genetic professionals' opinions about the future of clinical genetic and genomic services in Canada. We used the Delphi method to survey Canadian genetic professionals about their perspectives on whether scenarios about changes in service delivery and the use of genomic testing would be broadly implemented in their jurisdiction by 2030. We conducted two survey rounds; the response rates were 32% (27/ 84) and 67% (18/27), respectively. The most likely scenario was the universal use of noninvasive prenatal screening. The least likely scenarios involved population-based genome-wide sequencing for unaffected individuals. Overall, the scenarios perceived as most likely were those that have existing evidence about their benefit and potential medical necessity, whereas scenarios were seen as unlikely if they involved emerging technologies. Participants expected that the need for genetic healthcare services would increase by 2030 owing to changes in clinical guidelines and increased use of genome-wide sequencing. This study highlights the uncertainty in the future of genetic and genomic service provision and contributes evidence that could be used to inform strategic planning in clinical genetics.

Comment on Future trends in clinical genetic and genomic services by Borle et al.

“…Borle et al's paper showed some surprising results [2]. Although the study participants agreed about the most likely scenario universal usage of noninvasive prenatal screening, populationbased genome-wide sequencing of unaffected individuals was the least likely scenario while this could potentially help in prevention or early diagnostics of disease or prevention of pharmacological side effects through pharmacogenetic gene sequencing.…”

“…Of course, health is of importance for the individual and society at large, but with a growing need for personalized care and prevention, and for cross-disciplinary approaches. Borle et al point out in this issue, the uncertainty of the future of genetic and genomic service provision and provide some insight into perspectives of Canadian genetic professionals on the topic [2]. This new evidence is of utmost importance since everybody knows by now that genetic information derived from DNA analysis can help address challenges in personalized medicine and prevention.…”

“…Another comment to make is the fact Borle et al point out the urgent need for health human resource planning for clinical genetic and genomic services to provide adequate access for all individuals in need and the search for alternative service delivery models [2]. This need is universal, however further studies are needed on perspectives of a diverse set of stakeholders on the role of genetics in primary and secondary care, their view on responsibilities, information management through eHealth and decision support systems, and their educational needs.…”

“…This could potentially lead to decreasing the pressure on clinical genetic professionals with only necessary referrals from primary and secondary care nonclinical geneticists if needed according to guidelines. Borle et al also pointed out on the increased use of eHealth and telemedicine, which indeed is happening due to COVID-19 pandemic [2]. Wang et al recently published a very interesting article on the "Utility of a virtual counselor (VICKY) to collect family histories among vulnerable patient populations: a randomized controlled trial" [7].…”

Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics

“…Genomic technologies are rapidly advancing the integration of genomics into clinical care, with evidence demonstrating their role in disease diagnosis, drug discovery and targeted therapeutics ( Green et al, 2020 ; Atutornu et al, 2022 ; Borle et al, 2022 ). Digital health records, next generation sequencing, and artificial intelligence (AI) are also leading to an explosion of health data ( Asiimwe et al, 2021 ).…”