August 10, 2023
Working in partnership with federal and provincial governments, health authorities, research institutions and the private sector, Genome BC is committed to advancing the clinical implementation of precision health in the province. Precision health approaches adapt medical care for a patient based on their lifestyle, environment and genomics. These initiatives rely on information about how the complete DNA sequence, or genome, of an individual influences everything from their risk of developing certain diseases to their likelihood of experiencing adverse drug reactions.
The idea of precision health with genomics at its core, has been gaining steam for some time now, yet only recently have patients become more aware of the role genomics can contribute to their health. The COVID-19 pandemic certainly helped heighten awareness of genomic technologies in part through a strong presence in the public eye, facilitated by daily briefings from the Provincial Health Officer and a strong visibility of stories in the media on the role genomics played in identifying the origin of virus strains and variants.
In reality, genomics has been delivering on its promise to actively transform the healthcare landscape and enhance patient health outcomes for more than twenty years. In the fields of oncology, pharmacology, rare and infectious diseases, genomics has had significant impacts on diagnosis, treatment and prevention. Genomic technologies have revolutionized patient care — effectively improving patients’ health outcomes for the past two decades. However, most of these successes have been in a health research setting. Although these transformational technologies have shown promise, there are still many areas where their full potential has yet to be realized. In British Columbia, the push for precision health as a standard of care has gained momentum, but there are still obstacles preventing the clinical implementation of genomics and the shift away from a ‘one- size-fits-all’ approach to medical treatment.
In its role as a funder and a convener, Genome BC has had many consultations with health professionals to identify the gaps and barriers in BC’s healthcare ecosystem limiting the clinical uptake of genomics research. A key finding through these consultations was the critical need for health professionals to have access to education and tools that would help adapt their practice in line with scientific advancements. Capacity building is essential for the uptake of genomics and is often a barrier to the implementation of genomic technology. There is a need for more genetic counsellors to share their expertise as part of the implementation process. There is also a need for physicians and nurses to not only be aware of the tools available and have clear access to them, but they must also understand the value of genomics to make genomic medicine interpretable, accessible and applicable.
An asset map Genome BC produced with health professionals in 2019 identified current regional and Canadian based clinical genomics education resources for health providers engaged in diagnosis, prognosis and treatment. This map enhanced the awareness and potential of available tools and tests for clinicians and general practitioners to use in the care of their patients. This work continued through 2021 as Genome BC worked collaboratively with the medical ecosystem to develop an implementation framework with recommendations on key principles, tactics and exemplar projects.
Genome BC’s Genomic Education for Health Professionals (GEHP) program is an initiative focused on supporting this framework and building capacity within BC’s healthcare system. In developing the implementation framework, health professionals clearly indicated they do not want to be experts in the rapidly changing and advancing field of genetics. However, they recognize the importance of understanding its relevance to their daily practice and delivering optimal patient care. To this end, healthcare professionals seek clear guidelines on who is authorized to order genetic testing under specific clinical scenarios, streamlined and centralized referral and test ordering procedures, as well as tools that can assist with time-consuming tasks, such as patient consent and managing patient needs following the disclosure of test results.
In British Columbia, healthcare providers can easily access important information and supporting point-of-care tools through Pathways, an online resource created by BC physicians for BC physicians. This platform includes helpful handouts, websites and referral information such as wait times and specialty clinics. Genome BC is proud to have supported the development of the Genetic Assessment and Testing Services Care Pathway, which assists healthcare professionals in determining when genetic assessment may be necessary. The referral algorithm also provides information on available genetic clinical services and mainstream testing options. Additionally, the Early Pregnancy Care Pathway outlines prenatal genetic screening processes. All of this is part of a collaborative effort to provide the best care possible.
Rising to challenges presented by the move toward clinical implementation of precision health requires time, capacity, dedication and collaboration amongst stakeholders, including medical professionals, health authorities, funders, researchers, developers, and patient partners. Genome BC will continue to fill an important role as a funder and a convener, working with our partners across the ecosystem to bridge the gap from research to the clinic to deliver better disease prevention, diagnosis and treatment through genomics. Together, we can contribute to the transformation of healthcare — improving patient health outcomes and healthcare system sustainability.
This article appears in Genome BC’s 2022/23 Annual Report. View the whole report here.