After a severe drug reaction that almost killed her sister, a Vancouver woman is fighting to bridge the gap between researchers and policy makers to make genetic testing part of the Canadian health care system.
In 2010, Amani Saini’s sister, a 19-year-old anthropology student at the University of British Columbia (UBC), came down with a common cold and went to see a doctor at the university hospital.
The doctor told her to get some rest and gave her a sample of Advil Cold & Sinus to ease her symptoms.
She went back to her residence and took the pill. When she woke up the next day, she had massive blisters all over her body and her eyes had turned red.
So she went to see an eye doctor at Vancouver General Hospital, who tried to find a dermatologist to see her, but there was none available. The doctor, however, reassured her it was not a big deal.
She went back home but got even sicker overnight.
With her condition getting worse, she was rushed back to the ER, where doctors finally realized she was experiencing an adverse drug reaction to Advil Cold & Sinus. It turned out she was suffering from something called toxic epidermal necrolysis and she likely had just days to live.
The family was shocked by the news.
“This is somebody who is 19 years old and really healthy,” said Saini. “Somebody who should have been studying for her mid-terms, but is now in intensive care, and we are being told she is going to pass away soon.”
Saini’s sister spent the next three weeks fighting for her life in the intensive care unit, but some health practitioners at the hospital still advised the family to start preparing for the funeral.
Miraculously, her sister beat the odds and made it through the ordeal.
However, she is still dealing with the side effects.
“It destroyed her tear ducts,” said Saini. “She now has to see an eye-care specialist at least once a month and put really expensive drops into her eyes.”
After her sister was released from hospital, the family was told there was nothing that could have prevented her condition from developing — an answer that was not good enough for Saini.
She started reading up on her sister’s condition and found out that adverse drug reactions are the fourth-leading cause of death in Canada.
By definition, an adverse drug reaction is a noxious unintended consequence of taking a normal dosage of a drug, usually prescribed to an individual by a medical professional, that was properly administered and which was supposed to be beneficial for the patient towards curing a disease or sickness.
The consequences of an adverse drug reaction can include damage to the proper functioning of a patient’s body, prolonged hospitalization, significant disability or incapacity, life-threatening injuries and even death.
Recent research indicates adverse drug reactions claim anywhere between 10,000 and 22,000 lives in Canada every year.
“And that’s just the official number,” said Saini.
Health practitioners can use the Canada Vigilance Adverse Reaction Online Database to report adverse drug relations, but it’s not mandatory, which, Saini says, means many cases go unreported.
A 2011 UBC study found that in B.C. alone, hospital emergency departments treat an estimated 210,000 patients each year for adverse drug events.
The research team estimates that the cost of treating these patients is 90 per cent greater than the cost of treating other patients. The added cost could be as much as $49 million annually.
Treating adverse drug reactions is estimated to cost the Canadian health care system anywhere between $13.7 billion and $17.7 billion overall each year.
From a personal story to policy making
After her sister got better, Saini did not think much of her medical condition until last year when she came across an article that talked about genomics, a branch of molecular biology that deals with the structure, function and mapping of genomes.
It also mentioned genetic testing for rare medical conditions.
Having no background in biology, political science major Saini delved into scientific literature on genomics and toxic epidermal necrolysis, the condition that almost took her sister’s life.
She came across articles from researchers in Thailand and Singapore that talked about a gene variant in people like Saini’s sister, who have experienced an adverse drug reaction and genetic testing that could be used to detect that variant.
“What that meant for me was that her disease could have possibly been prevented if she had been tested to see if she was carrying that gene variant,” said Saini.
So she started digging deeper and found out that Taiwan has actually made genetic testing part of their health care system, which means before a patient receives a new drug, they have to undergo genetic testing to determine if they are allergic to it.
“That’s something Canada has not done yet,” said Saini.
Through her research, Saini noticed both the United Kingdom and United States have already started to implement policies related to genetic testing.
So she decided to put her background in public administration to use and drafted a policy proposal that could be implemented here at home.
Saini put together a proposal that recommends that any child born at a Canadian hospital should be administered a genetic test for possible drug allergies along with a battery of other tests that newborns get subjected to.
Saini suggests parents should be asked if they would like to have their newborn tested and told about the consequences of an adverse drug reaction.
“That way the family knows from Day one what drug reactions their child can potentially have,” she said.
She also recommends that any Canadian, who gets prescribed a new drug which they have never taken before, should be given the option of taking a genetic test to determine which gene variants they carry and this knowledge should be used by their health practitioners when prescribing new drugs.
“Just like any other blood test, I think the provincial government should be funding that,” Saini said. “If you have never had this drug before, you could go and get a test done and that would determine if you would have an allergic reaction to it.”
Mark Kunzli, a pharmacist and pharmacogenomics researcher, says Saini’s proposal is feasible and can be cost effective, considering there are far greater societal costs beyond the health-care spending required to treat adverse drug reactions.
“Not only was [Amani’s sister] hospitalized, but she now has to have ongoing care and her economic productivity is affected for the rest of her life because of this adverse drug reaction,” said Kunzli. “When you start adding up all these costs, it makes total sense [to fund genetic testing.]”
“At the end of the day, we are getting to a point now where someone’s DNA can be incredibly informative in a health care setting. We are getting to a point where you can’t really make the argument that [genetic testing] doesn’t make sense from a cost perspective, because if you prevent even one of these in 1,000 or 10,000 people that’s very severe, those costs are a significant amount of money and they don’t just go away after that person leaves the hospital.”
Saini reached out to MLAs in B.C. and spoke to them about her proposal.
While no promises have been made yet, the B.C. Ministry of Health told Global News advancements in genetic testing and genomics research are evolving rapidly, and there are many tests and technologies that have emerged, providing new scientific research opportunities and information for health-care practitioners in B.C., Canada and internationally.
“The policies presented by Ms. Amani Saini in her report are good examples of policies that B.C. is exploring within a broader and evolving science and research sector,” said Lori Cascaden, a spokesperson for the ministry.
Cascaden says the Ministry of Health is currently working with Canadian and international partners, including Genome BC, the U.K. and Australia, to understand best practices in genomics and learn from other jurisdictions that have implemented national and local government genomic policy frameworks.
“B.C. health authorities currently undertake genetic testing across the province, for example, in areas of cancer, infectious disease, prenatal screening, newborn screening, medical and hereditary disease,” Cascaden said.
The ministry also says there are a number of individuals who have made similar recommendations to Saini’s.
“As we move forward, we will consider all the recommendations that we have received to determine what testing may be publicly funded,” said Cascaden.
Why is Canada lagging?
Kunzli says while genetic testing for adverse drug reactions is being actively looked at in a number of countries in Europe, Asia and the United States, there seems to be a gap when it comes to Canada.
While many Canadians turn to private providers like 23AndMe to learn more about their DNA, Kunzli says the government has to worry about privacy concerns.
“But there is a disconnect between what the government is worried about and what the people want. I don’t think it’s been explained properly,” Kunzli said.
“If a pharmacist knows that you have a variant that may potentially make you react to drug A, and drug B is an equal therapeutic alternative, why wouldn’t they use that information? Patients are coming up to doctors and pharmacists every day saying their 23andMe results suggest they should not be using a certain drug, and their health practitioners end up using something else instead. So why don’t we do that in a formalized way that actually helps our health care system?”
Kunzli says ultimately it’s about demystifying an easy scientific concept.
“Looking at it as this exotic technique and this new thing, I mean, it’s really cool, but it’s no different than the things we already do,” he said. “It’s just got all these other social connotations, so people get nervous, and especially government, because that’s the last thing they want to be seen meddling with. That’s where I think the holdup is. It’s being looked at as this unique beast, but really we are just refining our view of who you are.”
In November, Saini’s policy-drafting efforts were recognized at the Canadian Science Policy Conference in Ottawa, an event that bridges the gap between scientists and policy makers.
She became the recipient of the 2016 Canadian Science Policy Award of Excellence, which recognizes an individual who developed an innovative and compelling evidence-based policy that will make a positive difference to Canadians.
By utilizing genetic testing to identify people who could potentially have life-threatening adverse drug reactions, Saini says thousands of lives could be saved and the Canadian health care system could save billions of dollars.
But first, an important gap in communication needs to be bridged.
Saini says while she was working on her policy, she consulted with a number of pharmacology experts, like Kunzli at UBC, finding out in the process that the majority of researchers working in the area are not familiar with drafting public policy
“I was really astonished that one of the professors I talked to said they were aware of how other countries are using genetic testing, but nobody has really advocated for it here, because they don’t know how to do that,” she said. “It is a huge problem in the scientific community. There is all this research that’s done, but it never gets translated into policy.”
In the next several months, Saini is hoping to put together a group of stakeholders to address that gap.
“I really think we need to bring together researchers with patients and their families, like me, and individuals who actually know how to write policy,” she said. “These people never interact with each other. Scientists never really talk to policy makers and policy makers never really approach scientists and ask them if they have any new research that can actually save lives.”
Kunzli agrees it is a matter of having the right discussion.
“It’s going to make people healthier, it’s going to make drugs safer and it’s going to save money in the end,” he said.
“A lot of people see DNA as something that will tell you all the ways you will die. But we look at DNA as something that can tell you all the ways in which you can be healthier. If we change that perception, then I think we are going to be miles ahead.”