A centralized rare disease database and whole-genome sequencing as a standard of care: two essential implementations for the future of health

Rare diseases affect approximately 1 in 12 Canadians and most have underlying genetic causes. Many individuals who are at risk either have yet to be diagnosed or remain unaware of their risk (Canadian Organization for Rare Disorders 2021). In Canada, research on rare diseases has been limited, as there are not enough diagnosed rare disease patients present in any one area to be able to conduct meaningful research. Data from rare disease patients need to be centralized, accessible, and shared among researchers to further research that can help diagnose and, ultimately, treat rare disease patients in Canada.

The need for greater data sharing is even more important with the advent of new technologies, such as whole-genome sequencing (WGS), which can reveal an individual’s entire genetic makeup. This has the potential to increase diagnostic yield, reduce odyssey times to obtain a diagnosis, and lead to earlier treatment and intervention options. Though it is slowly entering clinical care in Canada, the clinical use of WGS is not currently the standard of care.

To advance rare disease research, Genome Canada launched the All for One initiative that seeks to implement a centralized rare disease database for the integration of rare disease research and clinical data across Canada by facilitating data sharing (Genome Canada 2018). It also seeks to ensure access to clinical WGS as the standard of care for Canadians at risk for rare diseases.

The objectives set out by the All for One initiative are innovative and ambitious, but their implementation will come with its fair share of challenges. Conversely, some drivers may facilitate the implementation of a centralized database and clinical access to WGS as a standard of care. To better understand the barriers and drivers of such a program, we surveyed stakeholders from the Canadian rare disease research community using a two-round survey. Of the 34 respondents, 12.5% were information technology (IT) managers, 12.5% clinicians, 25% directors of a genetic laboratory clinic, 19.75% policymakers, and 31.25% researchers or academics (Genome Canada 2021).

There is no doubt that the establishment of a database to facilitate the sharing of information on rare diseases will benefit the health sector in many ways. Similarly, the implementation of new technologies such as WGS as a standard of clinical care will increase the efficiency of medicine, especially at the patient level. The introduction of these innovations will certainly come with a set of challenges that may hinder the projected benefits if the right facilitators are not implemented.

Although the barriers and drivers identified in this article are presented primarily in the context of rare diseases, they could also very well occur outside of the rare disease community. Indeed, rare disease genes also play a role in the expression of common diseases. Considerations such as patient privacy and confidentiality, regulatory compliance, lack of funding, and IT infrastructure may be relevant in any data sharing context, especially when it involves sensitive genetic information as in the health sector. Perhaps, the use of WGS in the clinic will serve to “normalize” such data as part of health.

All for One—the Regulatory and Ethics Toolbox. Genome Quebec/Genome Canada.