Personalized Medicine Projects
Investigators at the LSI are initiating translational research projects that aim to change clinical practice, improve healthcare outcomes and potentially reduce healthcare costs by implementing an individualized approach to treatment.
All of our projects are being developed in collaboration with the Personalized Medicine Initiative (PMI), industry, leading clinicians and the British Columbia health care system. Current projects focus on preventive health and a wide range of diseases including cancer, diabetes, cardiac arrhythmias, autism spectrum disorders, and major immune disorders and infectious diseases.
Implementation and Evaluation of Pharmacogenomics in Primary Care
The rapid expansion in the quantity and range of drugs prescribed by family physicians, coupled with the wide variation in individual, genetically determined responses to medications, has led to an urgent need for a medication decision support system that incorporates genetic information and displays it in a way that can be used easily within a typical ten minute family practice consultation. This project will develop and implement a genetic test that predicts response to drug therapies and incorporates this pharmacogenomic information into a computerized decision support tool for family practice that utilizes this genetic information to enable safer and more effective prescribing for patients at high-risk of an adverse drug reaction.
Executive Summary PDF
National Cancer Hot Spot Test
Improvements in cancer care will need to embrace the concepts that each patient is different, each cancer is unique and cancers are clonally diverse populations of cells that obey evolutionary principles. There are about 90 known mutations for which a treatment is available or is in late stage clinical trial. This project aims to establish equitable access across Canada to a state-of-the-art cancer diagnostic test that surveys these 90 “actionable” mutations. Such a test will enable clinicians to prescribe available drug therapies based on the presence of the mutations and match the specific cancer and patient with the treatment that has the highest likelihood of success in the shortest possible time, improving outcomes in a cost and time efficient manner.
Executive Summary PDF
iTARGET ASD; Individualized Treatments for Autism Recovery using Gene-Environment Tools for Early Diagnosis
The Autism Spectrum Disorders (ASDs), defined by significant deficits in communication, social reciprocity and behaviour, are the most common childhood neurodevelopmental disorder and a rapidly growing public health concern. ASDs are complex and research suggests a strong genetic link. Most experts agree that signs of ASDs are evident in the first year of life in nearly 50% of affected children, yet most are not diagnosed until they are much older. Research implicates that earlier treatments lead to significantly better quality of life. Our team of scientists, clinicians and trainers will construct an integrated phenomic-genomic-microbiomic database to develop diagnostics that will enable early characterization of ASD, identify patients at high risk of developing certain clinical symptoms (co-morbidities), and guide the management and support strategies that best-fit individual patients and their families for the greatest possible therapeutic benefit.
Executive Summary PDF
Biomarkers for Precise Prescribing for Diabetic Patients
As of 2012, 371 million people suffer with diabetes at a stunning cost of over $450 billion for medical attention. The complexity of this disease – due to its multi-genetic nature and the innate genetic differences of individuals within this population – give rise to a variable response to diabetic treatment regimes. In fact, only about 50% of conventional therapies are effective in the person they are prescribed and many cause adverse drug responses. Delivering an effective treatment immediately following diagnosis can be vital to the health of the patient and can make the healthcare system more efficient and cost effective. We have assembled a unique team of expert clinicians and scientists in diabetes to develop biomarkers that will accurately guide an emerging class of therapeutics aimed at increasing insulin sensitivity: glucagon-like peptide-1 receptor (GLP-1R) agonists. GLP-1R agonists boost glucose-stimulated insulin secretion and promote steady blood glucose level and reduced body weight. Identifying biomarkers for the development of diagnostics to guide prescribing has the potential of reducing adverse drug reactions and improving outcomes, while saving the healthcare system and patients in avoidable ineffective prescribing and the treatment of adverse drug reactions.
Executive Summary PDF
Molecular Diagnostics of Viral and Non-Viral Liver Fibrosis Progression
Liver fibrosis is a process of replacing healthy liver tissue with scar tissue, caused by inflammation or injury. The last stage of fibrosis is called cirrhosis and it is the 12th leading cause of death by disease (more than 1.5 Million per year) and the resulting economic burden is over $20 Billion in the U.S. alone. Fibrosis is reversible, but reversibility is easiest during the early stages of liver damage, with progression of fibrosis leading to liver failure, cancer and ultimately death. As fibrosis is asymptomatic, diagnosis heavily relies on clinical tools, but no accurate non-invasive test is available. This project will develop a comprehensive suite of three non-invasive molecular diagnostic blood tests (genomics-, proteomics-, and metabolomics–based) that can rapidly and accurately distinguish various stages of fibrosis, especially the early stages where treatments and interventions are most efficient and critical.
Executive Summary PDF
Personalized Treatment of Cardiac Arrhythmias
Inherited cardiac arrhythmias adversely affect the lives of about 1 in 2000 people. Too often the first symptom is sudden death, and when the arrhythmia is detected earlier, the response to accepted therapies is highly variable due to the nature of the individual and the genetic mutation. The aim of this project is to employ genome sequencing technologies to identify the primary disease mutation and stem cell technology to empirically determine an effective therapeutic regime for each individual. The genetic profiles of patients will be compiled to create a clinical registry linking the type of arrhythmia and functional activity, so that future patients can benefit from a rapid and effective diagnostic paired to the therapeutic.
Asthma and the Personalized Microbiome
Asthma is a major problem in Canada, with 8.3% of the Canadian population aged 12 and over and 11.7% of Canadian youth, aged 12-19 having asthma. This number has quadrupled in the past 20 years. There is a growing body of evidence to indicate that the microorganisms we host influence our health and disease. This project will establish how microorganisms in the gut impact immune function and asthma development, and define which microorganisms are associated with either resistance or susceptibility to asthma development. This information will provide accurate diagnostic tests to identify asthmatics before onset with the potential to guide effective therapeutic interventions that can prevent or better treat young children at risk.
Personalized Oncogenomics (POGS)
Understanding the causes of cancer can lead to effective interventions. Until recent breakthroughs in genomic sequencing technologies, using the tissue of origin as a guide in the treatment of cancer was the best course of action. Now with affordable accurate detailing of genomic sequences, it is feasible to study individual cancers and personalize care at the molecular level. Extending from the analysis of known mutations with “actionable” therapeutics, this project provides a comprehensive genetic characterization of human tumours. This project will provide a profound understanding of the changes that contribute to and drive the cancer-causing processes and, in certain cases insights into guiding individualized therapeutic action to stop cancer growth, proliferation and metastasis. Collectively, this information has the potential to provide more accurate diagnoses and validated therapeutic targets.
Preventive Medicine; Molecular You
Early detection of disease risk and early intervention would dramatically improve health and decrease health costs. However, previous efforts have been hampered by a lack of strong science to guide intervention. Our effort will revolutionize effective prevention. Traditionally medicine has had difficulty in identifying people at risk of developing a disease or in the very early stages of disease. Population based approaches such as screenings have had variable success.
In contrast, a comprehensive innovative approach designed to detect early signs of potential disease would allow early stage intervention before serious consequences occur. The only way to map the natural history of diseases and understand etiology is through longitudinal studies of a large patient population. A preventive medicine program aimed at maintaining health is being planned in partnership with the Institute for Systems Biology in Seattle. Participants will be extensively studied utilizing the most up-to-date and validated tools available. Their genomes will be sequenced and analyzed to identify genetic risk factors for disease. Plasma proteins will be comprehensively evaluated by proteomic and computational biology approaches. Their physical activity, heart rate, sleep patterns will be regularly monitored. Analysis of microbial species present in the gut and about 100 organ-specific proteins will also be monitored. Data will be analyzed for health status and transitions from health to disease (see figure above). Participants will receive regular consultation with a healthcare professional to interpret data and discuss potential options. Data will be presented using a totally new graphical interface to produce a “dashboard for health”.
In addition to the health maintenance benefits to participants, the large database created from this study will be a powerful source of information to develop biomarkers indicating health status and early indications of transition to disease. Such data will be the basis of new intellectual property and proprietary opportunities to create industries focused on maintaining wellness and the early personalized prevention of diseases before they become dangerous.
Executive Summary PDF
Contact Pieter Cullis
Professor and Director
Contact Rob Fraser
Associate Director LSI