An audience of senior citizens was urged to get engaged and get educated about a new way of doing medicine that is changing quickly to deliver sharply personalized care for individuals.
Dr. Rebecca McClure, a molecular pathologist at Health Sciences North, told about 150 people attending the annual general meeting of the Sudbury chapter of CARP that it behooves us on to "get on the learning curve and get moving" with next-generation DNA sequencing.
Next-generation DNA sequencing uses new technology to diagnose diseases quicker and more accurately than other forms of genetic testing.
Test results that weren't earlier available or took weeks to complete can now be done in days, allowing doctors to treat patients faster and more effectively.
McClure told the audience how medicine stems from research, how everything we know about normal body function and disease comes from research, and pushes us to make better diagnoses, prognoses and develop better treatments.
Until recently, research findings were applied to people whose diseases were similarly grouped, but that wasn't an ideal method because some were helped and some were hurt by those therapies.
But new tools and knowledge have "catapulted" the medical community into a new direction, particularly a tool called high throughput analysis for genetics.
The basis for all disease is genetic, McClure said — a combination of the gene structure we inherit and the changes our genes undergo throughout our lives.
High throughput analysis allows us to do detailed studies of the genetics that gives us the information needed to treat them on an individual basis.
The more we can define a disease for each person, the better we can treat it, said McClure, who was recruited to Sudbury from the world-class Mayo Clinic in Rochester, N.Y.
Personalized medicine is evaluating the genetic information of an individual patient to optimize their diagnosis, prognosis, therapy and therapy monitoring, said McClure, who often had the audience chuckling despite complicated subject matter including a "really tiny genetics lesson."
With about 21,000 genes in a single cell, something as little as one mutation can cause a problem.
"Anything that messes up the fine tuning is a problem," said McClure.
Until recently, technology only allowed researchers and clinicians to look at a tiny piece of a molecule at a time, and each piece of a mutation required a different test.
That was tedious, time-consuming and costly, and made it virtually impossible to find out what was wrong with a patient, said McClure, who's from London, Ont.
Next-generation or high throughput sequencing and computers can read the DNA and can look at millions of molecules at once, take all of the DNA in a cell, chop it up, put every piece in its own test tube and test the reaction millions at a time.
A computer can overlap and create entire sequences, which researchers and clinicians can read, looking for mutations on a strand.
The machines that do these sequences are being constantly upgraded. Sudbury has a DNA sequencing machine that looks at 15 to 20 genes at once, purchased by Angels in Pink.
The hospital would like to upgrade to the next machine, which could sequence a person's entire DNA in a couple of hours, said McClure, who also teaches at the Northern Ontario School of Medicine and is a researcher at HSN's Advanced Medical Research Institute of Canada.
The goal of personalized medicine, said McClure, is to get to point where abnormalities in the disorders we have can be fully evaluated to provide a more comprehensive picture of how the regulatory pathways in cells have been affected in disease and target them for therapy.
Personalized medicine can be used to determine a person's risk of disease, said McClure, citing the recent case of actor Angelina Jolie. Jolie opted to have a double mastectomy after gene sequencing showed she had a greater than 80% of developing breast cancer.
Gene sequencing can also detect the risk of chronic diseases such as heart attack and stroke, autoimmune diseases and infections. It can also help manage diseases.
DNA sequencing can help optimize drug therapy, both in terms of the types of medications used and the most effective doses.
McClure encouraged the audience to be aware of their genes and what they do, and said there are apps people can buy for their cellphones and other mobile devices if they do have sequencing done that will store that information.