Although the Human Genome Project (HGP) was completed in 2003 at a cost of roughly $3 billion, most of us are still unclear about what exactly was discovered. This is the equivalent of building three new metro stations in downtown Toronto, but having a ridership of only 1,000 people per week.
My uncle once told me: “The word “genetics” has about as much relevance to my life as a lightsabre.” I replied: “Let me try and explain it to you.”
- Each DNA strand is like a LEGO brick
- Each gene is a castle made of LEGO bricks
- Genetics is building castles out of LEGO
- Genomics is all the LEGO castles available at the store
The term “DNA” is not just a fancy new way for people to claim exclusively French-Canadian (or any other kind of) lineage. These days, when people say, “It’s in my DNA,” what they really mean is simply, “It’s in my blood.”
The genetic code is the blueprint for the human body. Imagine the blueprint of a house, issues such as a poorly-installed floor or a leaky faucet can be a problem, especially if they remain unresolved for 30 years.
Génome Québec has come up with four goals – ways that genetics could improve people’s daily lives – and I added a fifth. All five goals are summarized below. Over the next few weeks, I will be posting an article on each one.
Goal #1: Improve diagnosis
Back in 1990, the first HIV/AIDS screening method consisted of testing the patient’s blood for proteins produced by the virus, which was time-consuming, inaccurate and, above all, expensive. However, the researchers’ main goal was to unlock HIV's genetic code.
Today, the situation is dramatically different.
GenePOC, a Quebec City-based company, sells a device that can diagnose diseases such as AIDS by analyzing the virus’ DNA rather than its proteins. The diagnosis is virtually instantaneous, inexpensive and, above all, much more reliable, as humans do not share any similar DNA with the HIV virus, so it’s easier to detect what belong to who.
Goal #2: Reduce the risk of developing certain diseases
Genetics is helping us develop a medical approach based on the patient rather than on statistics. As Hippocrates, an ancient Greek physician born in 370 BCE and widely regarded as the father of medicine, said: “It is more important to know what kind of person has a disease than to know what kind of disease a person has.”
Hippocrates would have rejoiced at the high-profile case of Angelina Jolie, who opted to have a double mastectomy because she had a high risk of developing breast cancer due to a faulty BRCA1 gene. In fact, mutations in BRCA1 and BRCA2 genes increase the risk of breast cancer in women by 65%.
While many people might choose to ignore the risk, Angelina chose a more pro-active approach that she explained with these words: “Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”
Goal #3: Personalize treatment
An article published in 1999 in the Journal of Clinical Investigation showed that the symptoms of three specific types of epilepsy could be mitigated based on DNA testing. For instance, for people with Dravet syndrome, a severe form of epilepsy that begins in infancy, sodium channel blocking drugs should be avoided at all costs, as these drugs will only worsen the symptoms of the disease.
With the right genetic test, the right drug, and proper follow-up, people with these types of epilepsy have virtually no more seizures. What was not thought possible in 1999 has now become reality!
Advances in genetics are not only used to fight genetic diseases. They also pave the way for genetic testing to diagnose, and genetic procedures to treat, communicable diseases such as HIV/AIDS, malaria and tuberculosis.
Goal #4: Know how lifestyle affects health
We must remember that one of the main advantages of genetics is to make an immense amount of information available to people, to improve their quality of life, avoid disease and reduce their genetic risk factors.
The better society’s grasp of genetics, the more focused healthcare practitioners’ recommendations will become regarding personalized treatments, and the lifestyle changes people should make to reduce the risks associated with having certain genes.
Genome Canada emphasizes the effect genomics could have on research, possibly leading to the discovery of the origin of all diseases.
Goal #5: Involve the patient
I completely agree with all the aforementioned four goals. However, I would like to add a fifth one, namely: get patients involved in their treatment.
- According to the Public Health Agency of Canada, 50% of North Americans have one or more chronic health conditions.
- Over half of these patients comply very little, if at all, with their doctor’s recommendations.
- To the delight of healthcare practitioners everywhere, over 80% of Internet users look up health-related information online.
If you have a chronic health condition, do you know your treatment target? In other words, if you have high blood pressure, how much should it be lowered?
What is the point of promoting exercise if the patient doesn’t know what goal he or she is trying to achieve? Clearly, patient engagement is a crucial factor.
Life presents us with many challenges. We shouldn’t worry about the ones we can either control or overcome.
CEO of BiogeniQ