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the future of genomic testing in canada: the long-term impact and ethics of evolution

from targeted therapies and early disease detection to personalized medicine and healthcare system improvements, genomic testing is a powerful tool.

by corey deeth

published jan 19, 2024

last updated jun 04, 2024

7 minute read

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7 minute read

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the future of genomic testing in canada: the long-term impact

personalized medicine, made possible by genome testing, has the potential to bring about significant improvements in the healthcare system in canada. getty images

welcome to the third installment of healthing’s three-part series on genomic testing. in first and second entries, we introduced the concept and process of genomic testing and its potential benefits to health outcomes for canadians, as well as data privacy and ethical concerns. in this final article, we’ll dive deeper into the long-term impact of genome testing for both the patient and how it’s poised to change the field of medicine. this series was produced by the healthing editorial team with the support of a grant from bioaro, a canadian biotech company with expertise in genomic testing. while bioaro made the production of this series possible, they did not have any editorial influence or control over the content, including review prior to publication.

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advancements in genomics have propelled the field of medicine into a new era, promising personalized healthcare solutions tailored to individual genetic makeup, improved treatment plans, and the undeniable potential to redefine clinical practices.

so what does the future of genome testing look like? and how will it shape healthcare in canada and support precision medicine for years to come?

dr. tim hudson, whose career in genome testing started over 20 years ago, has seen the landscape change drastically. he has spent the last two decades working in the research and discovery of genome testing.

“it’s changed from a small number of genes which we could test, like brc1 and 2 for breast cancer, to thousands of genes that can be tested,” dr. hudson said.

the evolution of genome testing from a limited number of genes to a comprehensive approach that can aid in diagnosing patients, predicting drug responses, and early disease detection is a testament to its transformative potential.

the multifaceted nature of genome testing enables individuals to make informed decisions about their health, and to consider the potential risks and benefits associated with their unique genetic makeup.

early disease detection and prevention

genomic testing plays a pivotal role in advancing early disease detection and prevention by providing valuable insights into an individual’s genetic predispositions.

“ultimately for some patients, we’re going to end up having benefits in terms of health outcomes, longer lives, and quality of life. that’s going to come from having made those decisions early at the right time,” dr. hudson emphasized.

through the analysis of an individual’s genetic code, genomic testing can identify specific genetic markers associated with an elevated risk of certain diseases, enabling healthcare professionals to conduct targeted screenings and assessments. early detection, fueled by these genetic insights, becomes a powerful tool for implementing timely interventions, leading to more effective treatment outcomes and improved overall prognosis.

phil unger, the president and ceo of cadeon underwent genome testing after having a health scare of his own. genomic testing helped fill in the blanks as to how it happened and how he can play a proactive role in his health journey.

“it’s not just a life sentence or anything like that just because you had your genome sequenced. it basically just says that, hey, i’m 10 to 15 per cent more likely to need to deal with these types of afflictions as i grow older,” he said.

equipped with this knowledge, individuals can proactively engage in their own health management strategies, whether that be diet, medication, and/or exercise.

data sharing and democratizing science

beyond individual benefits, genome testing contributes to a larger societal goal – democratizing science. genome testing not only provides individuals with insights into their health but also contributes to collective knowledge that can benefit future generations.

dr. hudson explains that while data must be shared safely, sharing data is “accelerating science and accelerating access to information which can help patients make a better decision in a very responsible and trusted way.”

“[data collection] is fueling the growth in personalized medicine with reliable information to help make decisions. it depends on the numbers and the numbers come from data sharing,” he added.

data sharing not only accelerates scientific advancements but also fuels the growth of personalized medicine. this can provide reliable information crucial for informed decision-making and ultimately shaping the future of healthcare.

targeted therapies and drug response prediction

one of the most promising aspects of genome testing is its potential to revolutionize treatment plans. traditional medicine often employs a one-size-fits-all approach, prescribing medications and therapies based on broad population averages. genome testing, on the other hand, allows for the identification of specific genetic markers that influence how individuals respond to treatments.

tailored therapies enable the customization of treatment plans based on an individual’s genetic makeup. this can lead to more targeted and effective therapies, reducing the likelihood of adverse reactions and improving treatment outcomes. precision drug prescriptions empower healthcare providers to prescribe effective medications based on an individual’s genetic response, optimizing drug selection, dosage, and administration.

to illustrate the potential of genetic testing for targeted therapies, dr. hudson provides a compelling example. “in cancer, many new genes have been identified, but now they’re becoming necessary for predicting whether someone’s going to respond to a drug. that is changing from diagnostic prevention to the applications and selecting therapies,” he said.

“it’s really through the genome analysis, you see what that driver of the disease is, and that’s how you’re gonna get treatments which have a more profound impact on that specific patient.”

this shift from a broad diagnostic approach to a precise understanding of the genetic drivers of diseases represents a paradigm shift in healthcare. genome testing not only identifies the specific genetic factors influencing treatment responses but also paves the way for treatments that can have a more profound and targeted impact on individual patients.

this shift signifies a move beyond diagnostic prevention, illustrating how genome testing is increasingly becoming integral to the practical application and selection of therapies tailored to the unique genetic makeup of each patient.

personalized medicine and healthcare system improvements

personalized medicine, made possible by genome testing, has the potential to bring about significant improvements in the healthcare system in canada. it can offer more targeted and effective approaches to patient care.

“if they have a risk for diabetes, if they have a risk for kidney failure or any anemia, or if they have any liver or thyroid problems, common screens are done. but why don’t we add a more comprehensive screening?” emphasized dr. anmol kapoor, cardiologist and ceo of bioaro, a canadian biotech company.

according to dr. kapoor, personalized medicine translates to a more focused and efficient approach to patient care. “so the next time when you go see a doctor, the doctor doesn’t have to do a general exam; they will focus on a personal exam for you.”

this shift from a generalized approach to a more targeted and personalized one can reduce unnecessary tests and streamline healthcare resources, optimizing the utilization of medical services.

in addition to elevating patient care, personalized medicine has the potential to revolutionize healthcare delivery and alleviate the strain on canada’s healthcare system. dr. kapoor highlights the practical applications of genomics in various medical fields. “[genomics is changing] everyday situations in cardiology, internal medicine, fertility, miscarriages, obesity, diabetes, and mental health,” he said.

the integration of genomics into these diverse medical disciplines signifies a transformative shift towards more precise and tailored healthcare solutions. as genomics becomes increasingly integral to everyday medical practice, its impact extends beyond individual patient care to contribute significantly to the overall efficiency, sustainability, and responsiveness of the healthcare system in canada.

the role of genome testing in the future

so, how do we harness the full potential of genome testing in the healthcare system, and what does the future look like? dr. kapoor emphasizes the need for increased accessibility.

“most provinces in canada are behind on genomic adoption. the uk is at least 20 years ahead of canada and has done 100,000 whole genome projects already. [in canada], we’ve barely done 10,000.” he said.

improving genome testing accessibility in canada relies on government initiatives like the $15 million investment in the creation of a pan-canadian genome library, announced in oct. 2023. the library aims to efficiently and ethically organize and share genomic data to support research and clinical care across canada.

dr. guillaume bourque, professor of human genetics at mcgill university, acknowledges the immense impact this investment can have on medicine in the country.

“over the last two decades, billions have been invested in genomics in canada, and the potential impact on medicine for the country is immense. the genome library aims to realize this potential by organizing and sharing genomic data efficiently and ethically to support research and the clinical care of people across canada,” he said.

the pan-canadian genome library’s strategic initiative will consolidate and centralize genomic data from diverse populations across the country, fostering collaboration and advancing research capabilities. as technology continues to advance, healthcare professionals are poised to unlock the full potential of the human genome for the benefit of individualized patient care.

the future of genomic testing holds immense potential to transform clinical practices, improve treatment plans, and usher in the era of precision medicine.

“on the clinical side, it’s research and learning. the treatment side, it’s improving health outcomes. some people as a patient are in to benefit larger clinical trials or to get a drug catered to them. others are looking for more information about their genetic makeup,” dr. hudson explained.

from targeted therapies and early disease detection to personalized medicine and healthcare system improvements, genomic testing is a powerful tool that can positively impact individuals and society as a whole.

as technology continues to advance, the integration of genomic data into healthcare practices will become increasingly sophisticated, leading to more precise, effective, and personalized approaches to disease prevention, diagnosis, and treatment. with careful consideration of ethical implications and ongoing research, genomic testing has the power to revolutionize healthcare and bring about a new era of personalized medicine in canada and beyond.

corey deeth

the future of genomic testing in canada: the long-term impact and ethics of evolution

from targeted therapies and early disease detection to personalized medicine and healthcare system improvements, genomic testing is a powerful tool.

genomic testing and privacy: protecting patient data and confidentiality