July 20, 2018
Precision health within clinical settings is improving health outcomes through improved diagnosis, disease management and prognosis for patients affected by various conditions across the health care continuum. Genome BC has been investing in this space for almost two decades and there have been successful outcomes such an increase in the diagnosis of rare diseases and the identification of potential adverse drug events.
These examples, and many others, demonstrate the power of genomics in health care. However, there are still challenges that must be overcome before precision health can be widely applied as a standard of care in clinical settings. Genome BC has ongoing dialogue with various partners and stakeholders to develop and maintain a health strategy for genomics. Consultations identified specific gaps and barriers in our health care ecosystem that are limiting the uptake of genomics into routine clinical care. Four cross cutting themes clearly emerged where an applied focus will help address system-wide short falls across various therapeutic areas. These include:
- Education of future and current healthcare providers and the general public
- Big Data (i.e. storage, governance, data integration, data sharing, consent)
- Capacity (i.e. personnel, sequencing, biobanking)
- Access (i.e. policy, reimbursement, economics)
Each of these themes transcends all areas of health care, regardless of disease focus. At Genome BC’s most recent Genomics Forum, we brought together scientists and clinicians from a variety of health disciplines to share their experiences in tackling these challenges through their research projects. (You can watch the whole video playlist on YouTube).
These challenges are not unique to British Columbia. We invited experts from different parts of the globe to speak to these issues at our Genomics Forum. Anneke Seller, Jean-François Deleuze, Robyn Ward, and Andrew Morris, each shared their unique perspective in addressing these four themes within their own health care ecosystems.
Based on consultations Genome BC has had with stakeholders, here are some of our observations on these four cross cutting themes:
Genomics education — Providers across the health care continuum have varying needs for genomics education. Ongoing education opportunities will be essential to enhance uptake and understanding for health care providers who did not study genomics through their training. We’ll need more genetic counsellors and physicians who understand the value of genomics to make genomic medicine interpretable, accessible and applicable. Key will be examining the various tools that are already available to train health care providers in BC to determine what gaps need to be filled.
Genome BC has always been an advocate of genomics education through outreach activities such our highly successful Geneskool program. In addition to campus field trips and the popular Summer Science Program, Geneskool supports teachers by providing hands-on classroom activities and workshops aligned to BC’s grade 9–12 curriculum to help teach students about this complex topic in new and interesting ways. Our GeneTalks program also brings public awareness and dialogue around applied genomics across a variety of sectors. There are many learnings from delivering these outreach activities that might also be leveraged to improve genomics education for health care professionals.
Big data in the genomics context presents its own diverse set of challenges. The computing resources needed to store and process the explosion of sequencing data are massive. Efficient methods of data storage, processing and analysis are critical since the power of genomic data exists within our ability to compare it with other data. Our understanding of disease will be better informed through the discovery and comparison of genomic variation among large groups of patients and larger datasets. New tools will be needed to help visualize and deliver the information in the context of other non-genomic data streams to make it meaningful for interpretation.
The most daunting challenge may not be the amount of big data we need to store, but how we store it. Accessibility to the larger research community is as important as scalability. Siloes must be removed so data can be shared either through centralization or through interconnectivity. Regardless, stakeholders across various disciplines will need to work collaboratively through developing standard formats and vocabularies so that data can be integrated and interpreted. The complexities of data integration and sharing will also need the support of sound governance and policy to ensure effective, secure and appropriate use of data. Genome BC’s work with the Global Alliance for Genomics & Health is aimed at overcoming significant challenges around harmonizing data sharing policies and standards. As well, we’re engaged with the BC led Digital Technology Supercluster — identifying and presenting opportunities that may provide solutions to these challenges.
Capacity building is essential to develop the infrastructure needed that will enable the application of genomics — access to data, establishing biobanks, sequencing infrastructure, decision making tools and developing high-quality personnel are just a few of the essential components to delivering precision health care in a clinical setting. Building capacity, in many ways, is at the core of Genome BC. We’ve advocated for best practices in all endeavours and continue to work hard to support the development of strong research teams. We’ve helped BC teams raise the bar high in developing credible research proposals with greater chance for success in funding.
British Columbia is fortunate to have an extremely talented pool of highly trained researchers, many of whom are entrepreneurial. However, when the right opportunity presents itself, academic stars sometimes move to other places and positions. While this can make retaining high quality research professionals challenging, it may present opportunities. For example, if these people move from academia into the business world to become end users and receptors in industry, they also become advocates for genomics in the private sector. Regardless, continuing to build capacity will require a mix of research funding programs that provide opportunities to develop emerging talent, as well as provide incentives that help retain experienced researchers.
Access is the final cross cutting theme and it is aimed at the harmonization of delivery mechanisms of genomic/genetic information across the province, including key issues such as policy development and economics. We continue ongoing dialogue with BC’s Ministry of Health to support the development of policy around the health applications of genomics. Navigating the pace of change may be one of the most challenging hurdles to overcome as technology advancements are accelerating faster than society’s ability to adapt. Policymakers are challenged to keep up, not only with understanding the impact of technology change, but also in establishing practical regulations that limit the most controversial practices, while ensuring genomic applications are benefiting society.
The economic feasibility of genomic applications in health care is also essential. There must be a business case behind the cost of new treatments and procedures to ensure precision health, as a clinical standard, is able to contribute to the long-term sustainability of the health care system. On this front, Genome BC and Genome Canada have been very proactive through funding competitions to ensure health economic studies are embedded in large scale funding proposals.
By addressing each of these themes, BC could position itself as a leader in developing recommendations and guidelines for genomics as a clinical standard in health care.