Abstract
Dawn Waterhouse, PhD, MBA, CHE, is a results-oriented professional with over 20 years extensive experience in research, research administration, technology transfer, project management, and multidisciplinary programs. She is the Research Business Manager for Island Health and a member of the Editorial Board for HMF.
Patients are inherently unique. This has long been recognized in, for example, the variable responses to medications and the differences in presentation of pathologies with a similar underlying cause. The 1901 discovery of the ABO blood types by Karl Landsteiner was perhaps the beginning of our focused progression toward a personalized approach to medicine. The gene that determines ABO blood types is located on chromosome 9—but this of course was not known in 1901. Landsteiner’s discovery, and the discovery of additional blood types (AB, M/N, Rhesus) in the following years, allowed for a far greater success rate with blood transfusions. With the publishing of the first draft of the human genome in 2001 and the full mapping, completed in April 2003, researchers had a glimpse of the extent to which medicine could truly become personalized.
The term precision medicine is a step back from truly personalized medicine, but one that is inherently more feasible and achievable. Although personalized would indicate a medicine specifically created for the use of a single individual, precision medicine is a more achievable and more realistic goal. It builds on the fact that there are shared attributes within defined groups of people and that it is possible to develop treatments and prevention strategies that target those attributes. By way of example, blood transfusion based on an understanding of a person’s type and subtype is an early example of a precision medicine approach rather than a personalized approach. Today’s precision medicine advances are building on our expanding knowledge of the “omics,” including genomics, proteomics, metabolomics, pharmacogenomics, and others.
For precision medicine approaches to become embedded in routine care, healthcare providers and leaders will need to educate themselves about molecular genetics, biochemistry, and genetics. This focused edition of Healthcare Management Forum provides examples of the potential of precision medicine while delving into some of the issues we need to be aware of and to address. We present articles focusing on different aspects of precision medicine, from infrastructure, to pharmacogenetics, the microbiome, and more.
Dawes presents an article on the use of pharmacogenetic testing to guide therapy that allows for drug selection tailored to the individual, thus avoiding potential adverse drug effects and lack of drug effectiveness due to variants affecting drug metabolism. Although seemingly a simple test that can garner critical information to guide decisions on therapy, Dawes provides some of the extensive developmental work that has gone into refining these tests, which are becoming mainstream enough to be increasingly used by insurance companies as well as physicians. He presents a compelling argument to develop and implement companion technology such as medication decision support software, which is supported by the number of approved drugs that now include pharmacogenetic testing information on their labels. Given that the Food and Drug Administration (FDA) estimates over 6% of hospitalized patients have serious adverse drug effects, there is a clear need to implement testing that can aid in avoidance of these events. Fortunately, panels are readily available for use to provide this critical information. When combined with purposefully designed algorithms to identify drug options, we will have truly powerful tools at our disposal.
Barnes and Watson highlight the need for infrastructure and procedures in order to support the new “omics” world. In addition to the need to modernize privacy regulations and clinical informatics, the fundamental component that health leaders need to focus on to meet the evolving needs of precision medicine is biobanking. Biobanking is more than just the long-term storage of biosamples; it pairs samples with clinical data, creating a rich repository to support health research in areas such as biomarkers. Biomarker information at the cellular level can equal the importance of more traditional analyses such as formalin-fixed, paraffin-embedded tissue samples, and requires a much more focused and efficient management of clinical archives. Given the importance of properly maintained biobanks and associated clinical information in the era of precision medicine, Barnes and Watson present a cogent argument for implementation of best practices and standard operating procedures. They also recommend which standard to utilize and point to the need to develop education on ethics, clinical informatics, and biobanking to staff.
Clostridioides difficile (Clostridium difficile) infection (CDI) is a primary cause of hospital-acquired diarrhea, caused by toxins released by bacteria into the bowel. Lee and co-authors present a glimpse into the burgeoning field of microbiomics with an article focused on gut composition and the use of Fecal Microbiota Transplantation (FMT). This article shifts away from human “omics” and delves into the world of microorganisms as an “omics” field in its own right. By understanding the specific bacteria within the stool of donors, it may in the future be possible to provide a precision medicine therapy for those with recurrent CDI, which could enhance the availability of this treatment not only across Canada and North America but globally. The authors call to health leaders to increase the use of FMT as a therapy and to encourage further research in this area.
Another critical issue impacting healthcare systems across Canada is that of wait times for healthcare services. Urbach et al. present a cross-Canada review of elective surgery wait time reduction initiatives implemented by provincial governments from 2000 to 2018. They examine the various funding models, including outsourcing, as well as models based on prevention, demand, and performance. The results show a surprisingly large number of different methodologies, and the authors point to a relative lack of studies evaluating the efficacy of the initiatives in meeting the goals of reduction in wait times or impacts on quality of life and economic outcomes.
Beauvais and Knoppers focus on the data-intensive nature of precision medicine. This need to capture ever-increasing and personalized data can be at odds with the privacy legislation on both a provincial and a national level. They point to the inextricable link between precision medicine and research and the need to strategically and purposefully create the infrastructure required to support this blend while ensuring that information is not underutilized. To do this, they say, we need to embrace recent technological advances, including artificial intelligence and cloud storage. These are areas in which healthcare information management and technology personnel are often ill-equipped to support in our current systems. Only by engaging our health leaders in the creation of a learning health system can we expect to be able to support the requirements of precision medicine and optimize benefits to our patients.
Using the example of type II diabetes, Anwar and co-authors take us through an example of novel testing that goes above and beyond the traditional hyperglycemic index and instead utilizes a precision medicine–based approach looking at metabolite analysis. They are able to use these data to provide lifestyle recommendations as a preventative measure. Their results demonstrate the power of precision medicine to reduce the burden on the healthcare system with just this one indication, which has a global economic burden of approximately $1.3 trillion, the majority of which is realized within hospital systems and for prescription medicine. The potential, therefore, for a precision medicine test to prevent the onset of this and other diseases is vast, particularly in light of the aging population of many Canadian provinces.
Once we have an idea of the power that precision medicine can bring to healthcare, we need to step back and consider the educational challenges of fully embracing these technologies. Anderson and co-authors point to the need to consider not only the infrastructure but also the intellectual capital required to harness the potential of this field and also be equipped to respond to the needs of patients who are purchasing direct to consumer DNA testing platforms. They argue that the educational requirements of precision medicine go beyond the typical CME-type offerings and must be integrated into training from the undergraduate level through to professional programs, including options for programs specific to precision medicine. They state that the best way to mitigate the impact of precision medicine on our healthcare systems is for our health leaders to be proactive about the staff training requirements in this area to ensure integration into clinical practice.
And finally, in order to achieve positive change in complex environments and deliver on the promise of high-quality, efficient and cost-effective care, we need leaders who share information, have internal moral standards, are able to objectively analyze data, can challenge their own beliefs, and are transparent – essentially, leaders who demonstrate authenticity. Saxe-Braithwaite and Gautreau present a study of authentic leadership in a sample of chief executive officers and direct reports from healthcare organizations in Ontario. Surveys were conducted pre and post a curriculum on authentic leadership. The results demonstrated that leaders were more self-reflective, and hence, more introspective, following the training material, leading to the conclusion of the importance of the study of authentic leadership in building those traits that facilitate enhanced trust and inspiration in direct reports and overall stronger organizational culture.
The promise of precision medicine is truly expansive in scope. From the sampling of articles presented in this edition of Healthcare Management Forum, it may be apparent that we have only scratched the surface in this regard. Having said that, I hope that this edition provides you, our health leaders, with an appreciation of the different fields encompassed in this important work and of the supports necessary to truly realize its full potential, including shifting the focus of our health systems away from reaction and toward prevention. These supports are needed not only within our healthcare systems and institutions, but also from our educators, policy-makers, and regulators. The potential is vast; it is to us to enable, embrace, and maintain forward momentum in the varying aspects of precision medicine for the benefit of our patients, our communities, and our health.
