what is genomic testing?: an introduction to personalized healthcare
9 minute read
genomics is the study of an individual's entire set of genes, also known as the genome.
getty images
stay up to date on this topic
welcome to healthing’s three-part series on genomic testing. in this series, we’ll introduce the concept and process of genomic testing, its potential benefits to health outcomes for canadians, the concerns around data privacy and ethics, the future of the technology and its place in canada’s healthcare system.
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.
—
“why me?”
it’s a natural response to health scares and unfavourable diagnosis – from cancers to cardiovascular conditions, alzheimer’s to celiac disease. it’s human nature to ask the question.
on the other side of this conversation is the doctor’s perspective, “if only we caught this sooner.” or, “if only we had more time.” it’s a helpless feeling for doctors who are unable to offer treatment until the disease presents itself through symptoms.
but what if we could answer these questions? what if there was a way to tell your predisposition to a disease before the first sign of symptoms? would you even want to know?
that’s genomic testing.
medical professionals are using genomic testing to predict potential health issues, implement more effective treatment plans and put patients in control of their health without the guesswork.
what is genomics?
genomics is the study of an individual’s entire set of genes, also known as the genome. it involves analyzing the structure, function, and interactions of genes within a person’s dna. through genomic testing, doctors are able to gain valuable insights into how genes influence our overall health and recognize any changes that could result in the development of a disease.
advertisement
genomics and our health: a personalized approach
through closer examination of the unique sequences and variations in our dna, genomics reveals insights into hereditary predispositions, disease susceptibilities, and personalized responses to treatments.
when a medical professional looks at imaging, whether it’s an mri, ultrasound, or mammogram, they’re looking for any evidence that might indicate the presence of a condition. if an existing condition is found, that is when the clock starts on treatments and outcomes.
genomic testing is able to show the predisposition to the disease, before any harm is done to the patient, allowing patients to be proactive with their own health. it’s a process that empowers healthcare to shift from a one-size-fits-all approach to a precision-based one, and tailor treatments to individual genetic profiles.
“why don’t we add a more comprehensive screening?” dr. anmol kapoor, cardiologist and ceo of bioaro, a canadian biotech company, says. “so the next time you go see a doctor, the doctor doesn’t have to do a general exam. they will do a much more focused personal exam for you.”
how does genomic testing change treatment options?
the existing healthcare system in canada is all about disease treatment and not prevention, according to dr. kapoor.
“we practice disease care. disease care is trying to diagnose the disease. we get paid to diagnose the disease and we manage the disease,” he says. “we technically don’t really prevent the disease. we don’t look for some kind of cause for the disease and we don’t know why the patient got the disease.”
genomics is meant to revolutionize patient treatments by enabling a personalized approach to medicine. by analyzing an individual’s genetic information, healthcare professionals can anticipate how a patient will respond to medications and tailor drug dosages and selections to the individual. this ultimately optimizes the efficacy of the medication, minimizes the side effects and ensures the safety of the patient.
advertisement
“many people are not able to metabolize certain antidepressants or pain medication properly. so, what we do is we give them the same standard dose. some people get addicted. some people get bad side effects,” dr. kapoor explained.
“the healthcare system has been built – first, you have to fail this drug, then you get a second drug, then the third drug,” dr. kapoor added. “why do people have to fail? it sometimes takes one or two years. why can’t you just jump straight and help the patient?”
dr. nellie fotopoulos, genetic counsellor and researcher at the montreal neurological institute, believes the entire healthcare system should embrace the science as a resource to improve patient outcomes throughout each step of the journey, especially when it comes to treatment options.
“there’s a lot of areas where genetics is going to help medicine,” she says. “i don’t think it’s disrupting. i think it’s more like another tool that we could use that would help inform physicians and other healthcare providers on what to do best for each patient and their family.”
genomic testing in practice: a proactive change
according to an evaluation by the centers for disease control and prevention, doctors can use genomics to predict an individual’s susceptibility to certain diseases and deploy proactive or preventative measures to alleviate the impact of these conditions.
dr. kapoor shared the example of a family affected by the death of their son from hypertrophic cardiomyopathy (hcm). it’s a disease that causes thickness of the heart muscle – and in this case caused sudden collapse and death.
for the parents, their son’s death caused great concern about whether the other three children may carry the same condition. an initial ultrasound of the heart showed they don’t have a disease right now, but that doesn’t mean they can’t get the disease in the future.
advertisement
so, the family is presented with two options – standard practice, or genetic testing.
the standard practice is that these children will need to be screened with an ultrasound at least once or twice a year for the rest of their lives. they’ll have to change their lifestyle and refrain from playing the sports they want to play. their family will endure anxiety and stress wondering if they’ll one day have hcm. standard practice is waiting for the heart disease to occur, and then reacting to it.
genomic testing, on the other hand, shows definitively whether or not they have a gene that indicates a predisposition to hcm.
“i imagine the impact for the future for them. the system says, ‘ok, do some [ultrasounds] of the heart and wait for the disease to occur, then you act on it,’” dr. kapoor says. “if you do genomic testing, we can see that we have the gene. if they have the gene, then they should be monitored closely. and if they don’t have a gene, you don’t have to worry about it.”
for cancer patients, genomic testing pinpoints distinct dna changes that may be driving the tumor’s growth. this information helps guide treatment decisions, leading to targeted therapies that attack cancer cells more effectively.
for couples considering children and starting their own family, genomics can diagnose inherited genetic disorders to help them make informed decisions about family planning.
even athletes can benefit from genomic testing by gaining a better understanding of their genetic risks, empowering them to better understand their health and maximize training.
as a high-performance athlete, canadian speed skater and world championship medalist hayden mayeur is used to “chasing down the 0.1%.” genomic testing afforded him the ability to unlock his full potential and reach peak performance by better understanding his physical needs, especially diet.
advertisement
“i was able to actually look at the composition of my gut and figure out where i was possibly missing in my nutrition,” mayeur says. “i was able to sit down with my team of nutritionists and make some small changes to my nutrition in general that would allow me to capitalize on my intake.”
“we were able to extract some information on my muscle composition and what training zones i might benefit from focusing on more. so these are very, very specific data points that have never really been explored in the past in sport.”
genomic testing comes with harsh realities
although genomic testing has tailored benefits for healthy individuals, it does come with harsh realities for patients and families dealing with life-and-death scenarios.
after all, genomic testing can reveal the presence of a dangerous condition, or the predisposition and susceptibility to one. from cancers, to neurological diseases, to prenatal evaluations, these proactive diagnoses don’t come easy.
as part of her role, dr. fotopoulos is on the frontlines of the pre-test preparation and post-test fallout that faces patients and their families. there is a clinical process for evaluating whether a patient and their family should undergo genetic testing, as well as how to proceed after the results are shared.
“it’s a grieving process,” she says, referring to people finding out they are at risk of a life-threatening condition. “we’re really there to fight and help them through the process and to adapt to the genetic implications of their disease in every area of their life.”
with a primary focus on amyotrophic lateral sclerosis (als) and other neurological disorders, fotopoulos is constantly managing these harsh realities. genetic testing continues to reveal more and more about our anatomy, but it doesn’t come with a straight line to a cure. the only thing for many patients to do is prepare for what is to come, and what will happen to their families after they are gone.
advertisement
the nature of the science is that there are two sides of the coin, fotopoulos adds. there are people who want to understand their genes and the risk factors for their families, and there are others who would prefer to not know.
“half the people that we offer the predictive testing to would like to know – they want to get their things in order. they take early retirement, they’d rather spend more time with their family,” fotopolous says. “and then the other half will be ‘no, i want to enjoy my life. i don’t want to know.’ and both are completely valid.”
access to genomic testing a challenge for canadians
genomic testing faces a greater challenge when it comes to impacting the lives of canadians – accessibility.
“most provinces in canada are behind in genomic adoption,” dr. kapoor says, adding that there’s limited availability, uneven distribution of resources, and high associated costs that make it inaccessible for many patients across the country.
the problem with these high costs, exporting of data, and wait times is that many patients who are suffering need faster results to make the best decision on treatment options.
“it’s definitely not equal,” fotopoulos adds. “[for als] the waiting list to see a genetic counsellor and to receive genetic testing is maybe two years. however, als, the prognosis after diagnosis is two to five years of life expectancy. so these are people who are not able to receive genetic testing and counseling for their families.”
“until there’s more established protocols for genetic testing and genetic counseling, and when there are more adopters of genetic testing and genetic counseling … part of our role is also to raise awareness of this service, and that people have the right to this service, if they choose to.”
in the 2021 federal budget, the canadian government announced the creation of the canadian genomics strategy with the goal to grow the adoption of genomics within the country and increase accessibility for canadians.
advertisement
in the next installment of our three-part series, we’ll take a closer look at genomic testing and the inherited ethical challenges; exploring the sensitive nature of genetic data and the potential of your medical information falling into the wrong hands.
share story
