Resources to use in your community
Real stories about why representation in research matters.
It took Rhonda, a young Lebanese-Australian woman, years to get diagnosed with a rare heart condition. It shouldn’t have.
Rhonda’s story
More and more illnesses are identified using DNA, which carries information about your health and ancestry. Doctors compare a patient’s DNA test, also known as a genetic test, to a reference database to find out the condition they have. Having the right diagnosis can help get patients to the right doctors and access to the right treatments.
If people from the Lebanese community aren’t included in the databases that doctors rely on, it takes longer for patients with Lebanese ancestry to receive a diagnosis.
Rhonda, a young Lebanese-Australian woman, had a heart attack at 19. It took longer for Rhonda to find out she had a rare genetic condition because there wasn’t enough information about the Lebanese community in the genetic databases doctors use.
The DNA test revealed Rhonda’s cousin and uncle have the same heart condition. Both have had heart transplants.
OurDNA is working with the Lebanese community to ensure they are represented in the resources doctors and researchers use to diagnose illness and understand complex conditions. Better representation will help ensure people like Rhonda don’t have to wait for life-changing, or even life-saving, diagnoses and care.
Doctors thought they found the gene change responsible for Alex’s heart condition. Turns out, the change is common for people with Pasifika ancestry.
Alex's story
DNA testing is becoming a part of routine clinical care for people with genetic heart conditions, but it’s not equally accessible for everyone.
When doctors are searching for the cause of a person’s illness, they can use genetic testing to determine if there are any changes in their DNA that could link with or cause the condition.
Doctors identify these changes by comparing the patient’s DNA to a reference database. However, 85% of the people represented in global databases are of European ancestry.
This means when someone like Alex, a Pasifika man with a heart condition, receives a genetic test, the results aren’t as accurate. Alex’s doctors thought the TNNT2 gene was responsible for his condition. But when they contacted other researchers to confirm this, they found out that this gene change is common for people with Pasifika ancestry and does not cause heart disease.
This means Alex doesn’t have an answer yet for his illness. However, it also stops Alex from being given the wrong information, tests and treatments. Knowing more about which DNA changes do not cause a condition can help the search for an answer to continue.
Cecile, a Lebanese-Australian woman, struggled with a debilitating mystery condition for years. When she finally received a diagnosis, it changed her life.
Cecile's story
In 1991, Cecile stopped work to spend more time with her children. Although this was true, she also spent hours at medical appointments trying to uncover the cause of her chronic pain and dangerously high fevers.
Over the next decade, Cecile experienced major health crises, and spent time in and out of hospitals and emergency departments.
After years of fortnightly fevers, infections, and pain, her GP referred her to an immunology doctor. He took down her family history, including a detailed account of her Lebanese ancestry and the family members who experienced similar symptoms to her.
In 2002, over a decade after her symptoms began impacting her daily life, Cecile finally received a diagnosis: she has Familial Mediterranean Fever, a health condition that is most common in Mediterranean populations, including Lebanon. Changes in her genes caused her to experience the chronic condition but it is under diagnosed.
Thanks to the diagnosis, Cecile can take the correct medication to prevent major health crises and has medical support. Most of all, it confirmed that her fears were wrong:
“My tears flowed as fears of being crazy and imagining I was ill disappeared.”
“It is vital to know what underlying conditions I carry for the safe management of my sickness, even if there is no cure, and for my descendants who may battle unknowns in their own medical profiles. A conception of our origins, including our family medical history, is part of our inner constellation for good health and wellbeing.”
