Many people remember the moment that actor and humanitarian Angelina Jolie announced to the world in a New York Times article that she had inherited the BRCA gene from her mother.
In fact, Jolie lost her mother, aunt, and grandmother to breast and ovarian cancer. Knowing the full history of her mother’s condition and talking to physicians helped Jolie make an informed decision to consult a genetic counsellor for further advice. After careful consideration, she decided to proactively have her breasts, ovaries and fallopian tubes removed.
For a woman whose body seemed to be an essential part of her professional offering, this act of communicating such a devastating personal situation turned out to be important for many other women.
Due to her brave revelation, the number of women referred for genetic counselling at Sunnybrook Hospital in Toronto increased by 90 per cent after 6 months with the number of BRCA1/2 carriers identified increasing by 110 per cent after 6 months.
Testing for Genetic Illnesses
While Jolie’s revelation underscored the difficult decisions that may result from genetic testing, it also made clear the importance of counselling from a certified genetic counsellor.
Genetic testing looks for changes in your DNA carried along family lines. It is useful in many areas of medicine and can change the medical care you or your family member receives.
Along with the BRCA gene, there are a number of inherited genetic illnesses that can be tested for. You may already be aware that you could have an ancestry-based genetic illness. In this case, you may want to find out if you are a carrier of a disease or will eventually develop an illness that has prevailed in your family.
While by no means an exhaustive list, the top known inherited genetic illnesses that can be tested for include:
- Muscular Dystrophy
- Huntingtons Disease
- Sickle Cell Disease
- Cystic Fibrosis
- Klinefelter syndrome
- Arrhythmogenic right ventricular dysplasia
- Charcot-Marie-Tooth disease
- Tay-Sachs disease
- Turner Syndrome
- Some cancers such as colon, breast, ovarian, pancreatic, stomach and prostate
- Familial hypercholesterolaemia (high cholesterol)
- Fragile X syndrome
- Familial Alzheimer’s disease
Genetic Illness Testing Through Your Medical Team
Going down the road of finding out if you have an inherited genetic illness can be mentally difficult, and for many, proper emotional and medical support is important.
In Canada, if you are working with your doctor and they recommend genetic testing, the cost for the test will be covered by provincial medicare. You should start your journey with your primary care physician, who will likely refer you to a genetic counsellor for guidance.
The Canadian College of Medical Geneticists website outlines the role of genetic counselling in helping individuals understand the implications of their genetic makeup, make informed decisions, and navigate potential preventive measures.
Direct to Consumer Genetic Testing
As an alternative to testing through your doctor, you can use private companies and pay for the test privately.
A number of well-known genealogy companies market at-home genetic testing services direct-to -consumer. If you choose this route, a kit will be sent to you in the mail, and you will be asked to either swab the inside of your cheek or go to a lab to have your blood taken.
When ready, the results are given by mail or over the telephone. In some cases, a genetic counsellor or healthcare professional may provide support prior to testing and may help post-test by providing the results and answering any questions you may have.
If you decide to test privately, look for a company that:
- provides test results from a certified lab;
- offers before and after genetic counselling;
- protects your privacy and is confidential;
- offers easy-to-understand information.
However, be aware that direct to consumer genetic testing is still the wild west so there are not a lot of laws protecting consumers. You may receive different reports from different companies, or the accuracy of tests may be dubious.
It is also logical to be concerned about how your genetic information is safeguarded and whether appropriate consent processes are in place. For example, the genetic testing company 23andMe have surrendered data to law enforcement officials.
Additionally, as for-profit companies are businesses beholden to shareholders and/or investors, the company may experience corporate instability.
Be aware of risks when dealing with private DNA companies. Your very personal data could end up in the hands of a company you had no intention of doing business with.
Understanding Your Genetic Illness Test Results
The first step upon receiving genetic testing results is to understand them thoroughly. A genetic counsellor can help by interpreting the results and providing insights into health implications.
“It’s crucial to recognize that having genes associated with a particular illness doesn’t necessarily mean you will develop the condition. Genetic information provides insights into potential risks, and the focus will be on understanding what this means for you personally,”Dr. Jehannine Austin, an associate professor of psychiatry and medical genetics at the University of British Columbia.
Genetic counsellors then work with the person to develop a personalized plan that may include lifestyle modifications, regular health check-ups, and any necessary screenings or interventions.
“Scheduling a consultation where we can discuss your specific genetic results in detail is the first step to advocating for your health. This will involve exploring the nature of the genetic variant, its associated health implications, and any available preventative or management strategies”, said Dr. Austin.
Genetic information can have implications for family members. A genetic counsellor can discuss the best way to share this information with your relatives and explore whether genetic testing or counselling might be appropriate for them.
See below for a video with Oncology Genetic Counselor Margarita Raygada, Ph.D.. She explains the role of a genetic counsellor in cancer care. She also shares the benefits and implications of genetic testing for patients and their families.
Community Support and Advocacy:
Finding solidarity in communities of individuals with similar genetic challenges can provide invaluable emotional support.
Advocacy groups like the Canadian Organization for Rare Disorders and the Genetics Education Canada: Knowledge Organization (GECKO) play a pivotal role in raising awareness, fostering community connections, and advocating for policies that support individuals facing genetic health challenges.
Discovering illness-causing genes is just the beginning of a journey towards informed decisions and personalized health management. By leaning on the support of healthcare professionals, utilizing available resources, and finding strength in community connections, Canadians can advocate for their own health.