Precision Transcript


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Canadian Health and Family


MS of Dr. Khan Dr. Khan: At the end of the day, we aren’t just average human beings, each of one, each of us is and individual and trying to tailor the treatment to that individual, understanding their particular genetic makeup, their different risk factors, what their lifestyle is, is really how we aim to change the course of the disease.



VO: For every person who benefits from taking medication, far more people, depending on who they are, see no benefit whatsoever. Fortunately, there is a revolutionary solution at hand: precision medicine.
MS on Dr. Khan



Dr. Aneal Khan at The Alberta Children’s Hospital is leading a Canadian team, making world leading breakthroughs treating humans with rare disease.


Precision medicine is “an emerging approach for disease treatment and prevention that takes into account, individual variability in genes, environment and lifestyle for each person.”

Dr. Khan: Precision medicine is really at the cornerstone of trying to diagnose and treat rare diseases.







More and more frequently, and I just came back from a meeting in Seattle, where we saw lots of examples where gene sequencing was able to help make a diagnosis of a rare disease. And we’re seeing an increasing number of situations where that information from the DNA helps make a decision of what type of medication to use for a rare disease patient.

B-roll VO: Two days after Owen was born, he began having repeated seizures and was brought into Alberta Children’s’ Hospital.
MS on Owen’s Mother Owen’s Mother: Yeah, very worried about Owen cause he had seizure. He was having seizure like for the week and they did the test like twice but all the results was negative.
MS on Dr. Khan



Precision medicine allows patients experiencing symptoms of unknown origin to be diagnosed rapidly.


Dr. Khan: The technology has changed, the information processing with the computer software and the processing speed has changed, and the way in which we get DNA has changed to really speed up how we get to an answer. We don’t even need to do a blood test anymore. So, we take a cheek swab from an infant or a saliva sample.
MS on Owen’s Mother Owen’s Mother: First, I got a phone call from Dr. Khan and he asked me to see if they could do a test, get a sample from the oral to see what’s happening. That was quick, like only two days, they got the results. It was SN2A gene mutation. Then we know what’s happening on Owen.
MS on Dr. Khan



An infant experiencing repeated seizures is a medical emergency.

Dr. Khan: On average, somebody with a rare disease, it would take 6 to 8 years to make a diagnosis.  And with Owen’s example, we showed how, from Tuesday morning to Thursday, we were able to arrive at a change in one DNA sequence code to arrive at a diagnosis. And that’s a big game changer.
B-roll VO: Precision medicine allowed baby Owen to be diagnosed and, as important, effectively treated.
MS on Owen’s Mother Owen’s Mother: When the doctor gave him the medication, like very specific on this gene mutation, and then Owen stopped seizuring anymore. Stopped. Totally stopped.
B-roll VO: About 1 in 12 Canadians, 2/3 of them children, are affected by a rare disease. But, because each disease affects only a small number of individuals, understanding and expertise has been limited and fragmented across the country. Precision medicine is already transforming how rare disease patients are being treated.
MS on Dr. Khan



Fabry Disease is rare inherited genetic disease that can affect many parts of the body including the kidneys, heart and skin.

Dr. Khan: One particular disease that I have quite a few patients with, is called Fabry Disease. And there are, probably close to 500 Canadians who have Fabry Disease.
MS on Brandy



Brandy’s father was diagnosed 15 years ago. Fabry Disease is inherited in an X-linked manner.

MS on Brandy: So I was diagnosed, uh, essentially, on my  28th birthday. We were out for dinner, actually, with my parents, and, uh, they shared with us that my father had been diagnosed with Fabry Disease. It essentially meant that both my sister and I had Fabry Disease.
MS on Dr. Khan Dr. Khan: And traditionally, what would happen is if we had a patient who had a diagnosis of Fabry Disease, then we would say, well, we’re going to use a particular drug in your treatment. And then, we would, kind of, hope the drug works.
MS on Brandy




Brandy’s previous treatment required regular infusions every two weeks, requiring entire weekend to receive and recover.

Brandy: For me, at the time, we didn’t know it was precision medicine. The change then, when I went on the new medication, just recently in the fall, was quite dramatic, cause that’s just a pill form. It allows your natural enzymes to work, so it’s actually more natural mechanism for, for treatment. It’s leveled out and I don’t have the pain and it’s actually reduced significantly.
MS on Dr. Khan



Dr. Khan: With precision medicine, what we do is we look at the gene sequence, and we know now, there are drugs available that we use where the result from the gene sequence tells us how effective that drug is going to be. And we can then use a particular medication, then, to treat the disease that is actually designed to work with the type of change in the DNA that that patient has, rather than just using an average approach. And what we’re hoping is that can keep improving over time.
MS on Brandy



People with rare diseases often have limited treatment options.

Brandy: What I would say to Dr. Khan is, I would say “Thank you very much”. I would say thank you for, uh, the commitment to the research. To find new treatments for our disease and help us to have a better quality of life.
MS on Dr. Khan Dr. Khan: The most important message is to understand is that we all have DNA, and our health is affected by our DNA. And with time, we hope to get a better understanding of preventive measures we can use from our understanding of DNA in ways that we can lead healthier lives.
B-roll of Dr. Khan and Owen VO:  Baby Owen & family are also grateful to have a bright future ahead.

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VO: For more information on precision medicine in relation to rare disease, please speak with your healthcare provider.


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