Genetic testing -- it sounds like something straight out of a sci-fi movie. Like a modern-day Pandora's Box, opening your results could feel as if you're inviting a curse into the room.
Unless, of course, that knowledge is worth the risk.
Whether out of medical precaution or general curiosity, genetic testing is rising in popularity around the world. Parents and health-conscious consumers contributed to a 2021 North American genetic testing market value of $19.23 billion dollars.
Though direct-to-consumer options were slow to catch on to Canadians until over a decade later, many provinces are experiencing frustrating waitlists to serve a population yearning to advocate for their own health.
With numbers like these, it's obvious that genetic testing in Canada will continue to provide a unique window into their health. What could the future hold?
The Origins of Genetic Testing
DNA is the molecule responsible for carrying your genetic blueprint. In all organisms, this blueprint determines the:
- Developmental tendencies
- Day-to-day functions
The concept of DNA was first studied by Swiss physician Friedrich Miescher in 1869. It would take approximately 100 years before it had a name.
Remember -- genetic code and genetically inherited diseases are both relatively recent discoveries. In the 1950s, scientists discovered that an extra copy of chromosome 21 causes Down’s syndrome. Over the next two decades, scientists would learn even more about the structure of DNA and inherited diseases. These inherited diseases would present themselves at birth or over time.
The Human Genome Project was the scientific effort to sequence all human-specific genes. Beginning on October 1, 1990, and completed in April 2003, the "HGP" provided a general mapping of human genetics.
Once the team completed this project, the personalized medicine industry was born. For the first time, patients could learn more about their lineage, or potential genetic conditions.
Different Types of Genetic Tests
For those seeking clinical care, a doctor or genetic counsellor selects the type of focused test they would like performed on a patient. The most common genetic tests include:
- Molecular tests - test for changes in one or more genes
- Chromosomal tests - large-scale changes in whole chromosomes or long lengths of DNA
- Gene expression tests - common cancer indicators
- Biochemical tests - study the amount or activity level of proteins or enzymes produced from genes
The type of test found in a direct-to-consumer test like 23andMe or Ancestry DNA is usually a targeted single variant molecular test. These tests will look at a number of specific variants in a particular gene instead of analyzing all variants.
Basic Steps of Genetic Testing in Canada
Regardless of the reason for testing, the basic steps of genetic testing will follow a similar blueprint. If you are receiving testing in a doctor's office, the general steps include:
- Initial consultation and review of insurance coverage
- The patient gives a sampling of blood, saliva, skin, fluid, or tumour biopsy
- The physician sends the sample to a lab and prepares it for examination
- Lab technicians extract the DNA
- Sequencing tests read your DNA and look for abnormal changes in the sequence
- A team of experts analyzes your results
- Your physician compares these results against symptoms and family history
- The lab returns written results to your doctor or genetic counsellor
- You receive your results and a treatment/prevention plan
For those enjoying a direct-to-consumer option, a saliva collection kit is provided with your order. This process requires:
- Spitting in the tube
- Sending the tube in a pre-labelled package lab
- Professional lab analysis
- Online results
For those receiving these results, it's important to remember that they are not yet a diagnosis. A doctor or genetic counsellor will be able to provide a final recommendation once they interpret the results.
What Are Some Reasons That People Take DNA Test?
Once a patient feels comfortable with the science behind genetic testing, they may compare the pros and cons of the procedure. Benefits may include:
- Understanding your risk for cancer or other diseases
- Relief or decreased anxiety
- Personalized assistance in preventative medicine and habits
- Spreading awareness to other family members
- Early detection
- Receiving early treatment for potential conditions
As with any testing or procedure, it's important to consider the potential drawbacks. Common concerns include:
- Testing positive or negative for a genetic change does not guarantee future diagnoses
- Genetic tests are limited in scope
- There may not be effective ways to prevent certain cancers or diseases caused by a certain gene mutation
- Anxiety may increase over awaiting results, and over how one may react to the result
- Genetic test results may result in additional appointments, tests, and procedures
- Results may cause financial strain and relationship pressures
Once you have reviewed the risks or cost of gene screening in Canada, you may question your own reason for testing. There is no singular reason that genetic screening has become so popular, though these are the four most common:
To Understand Their Lineage
For many consumers, DNA tests have become something of a hobby. Companies now allow some tests to be administered at home:
- Ancestry DNA
- Family Tree DNA
- Living DNA
When testing for genealogical DNA, these direct-to-consumer companies can identify specific locations of a person's genome to verify ancestral genealogical relationships.
To Prove Biological Parenthood
A DNA paternity test is almost 100% accurate at determining whether a man is someone's biological father. This testing may be done for child support, social security, or child custody reasons. Regardless, consent must be provided in order for these results to be admissible in court.
To Detect and Prevent Disease
Genetic testing may be used to detect diseases like cystic fibrosis or Huntington's disease. Those with a family history of certain cancers may order DNA tests to understand their risk of a future cancer diagnosis.
Pregnancy and Prenatal Screening
Prenatal genetic testing will test a woman's blood for potential defects. The most common reasons for prenatal screening include:
- Understanding the risk of either parent passing on a condition
- Geriatric pregnancy (mother over 25)
Blood tests are usually completed between 15 weeks and 22 weeks of pregnancy. Detectable conditions include:
- Sickle cell disease
- Cystic fibrosis
- Tay-Sachs disease
- Chromosome abnormalities
Once parents receive these results, they can make an informed decision regarding the pregnancy. A specialist may step in to provide guidance.
DNA for Court Purposes
Certain court cases may require a DNA test for child support, social security, custody matters, rape and murder situations.
In these instances, only "legal" DNA tests (tests from an approved collection site) are admissible in court, as they require a chain of custody of the sample. Though "at-home" DNA tests provide the same information as a test you would complete at a testing site, they are not intended for use in court.
Genetic Testing and Insurance Companies
Because not everyone qualifies for genetic testing insurance coverage, it's important to connect with your doctor in order to receive a referral. If you are at high risk for an inherited genetic disease, you may qualify for diagnostic testing. Your doctor will consider both your personal and family history before ordering hereditary or preventative testing.
Private health insurance should cover most genetic and genomic testing for expectant mothers. Parents can expect the lab that they work with to test for over 100 genetic conditions. These tests can include those like cystic fibrosis, Wilson's disease, and Tay-Sach's disease.
According to the 2017 Canadian Genetic Non-Discrimination Act, the bill prohibits insurance companies and employers from requiring genetic testing or the results of genetic tests. This law has also barred companies from denying services based on the results of these tests.
Who Should Have Access to My Genetic Information?
Ultimately, the way in which a patient orders genetic testing will determine who can legally access their data. Those concerned about their privacy are recommended to seek testing through their physician, where medical records are private data.
Why Is Genetic Testing So Controversial?
As with any new technology, there is always the controversy that accompanies the world of genetic testing. Privacy risks, discrimination, equity, and the debate over social engineering may discourage patients from seeking potentially helpful information.
Genetic testing companies pose a risk to personal privacy. Databases are hackable. Consumers may not want their data sold for consumer research.
Though laws protect consumers against discrimination for someone with a genetic disorder, discrimination against gene makeup is entirely possible. Patients may order anonymous genetic testing, or have testing performed under false names in order to avoid potential discrimination.
Though it is illegal for insurance companies to demand the results of tests, coverage may be impacted by testing. Life insurance policies require candidates to disclose all applicable facts.
Because genetic testing can be expensive, those who may need genetic testing are not always able to receive it. If genetic tests for certain inherited diseases were more affordable, they could become a tool for all Canadians.
The study of "desirable traits" and the elimination of certain genes flags the concern of "social engineering." Some see prenatal testing as a means to "create the perfect child." Eliminating these less-than-desirable traits or conditions could transform the way humans evolve.
Learn More About Your Options
When performed for the right reasons, genetic testing in Canada can prevent the surprises that usually accompany a health scare. When performed with the right insurance, health coverage will prevent medically-priced sticker shock.
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