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How Genetic Testing Has Revolutionised the Way Cystic Fibrosis is Treated

We often think of genetic testing in the context of testing for our risk for diseases like Alzheimer’s, but there's an extensive range of functions for these tests that can involve anything from family planning to treatment management. We speak to Sara Warren to find out how genetic testing has affected her life with cystic fibrosis.

Cystic fibrosis is a genetic disorder that can affect the respiratory, digestive, and reproductive systems. It is caused by mutations in the CFTR gene, which is responsible for producing a protein that helps regulate the movement of salt and water in and out of cells. To put it simply, when there’s a mutation in this gene, some develop cystic fibrosis and end up with a build-up of thick mucus in the lungs.

Sara, 43, was diagnosed with cystic fibrosis at the age of 7. This was the first time – and not the last – she would undergo testing to establish her steps forward with treatment. Genetic testing has revolutionised the way that the condition is managed, as previously it was diagnosed based on symptoms and clinical features alone. Now genetic testing can identify gene mutations that are linked to cystic fibrosis, allowing for a more accurate understanding of an individual’s condition.

“There have been two instances in my life where I have undergone genetic testing. The first when I was diagnosed with Cystic Fibrosis at 7 years old, and the testing was needed to confirm the CF diagnosis and to determine the genetic makeup of my CF,” Sara says. “The second instance was when my husband and I were talking about having children, and wanting to know the chances of having a child with CF.”

Sara’s not alone here – many people with conditions like cystic fibrosis use genetic testing to identify the risk to their future children and make an informed decision. Testing can be used to identify whether someone is a carriers of these mutations, and this is significant as cystic fibrosis is what’s known as an autosomal recessive disorder – to put it into plain English, it means a person would need to inherit two copies, one from each parent, of the mutated gene. Carriers of these mutations don’t necessarily have the condition themselves, but they can pass the mutations on to their children – and this is the reason parents may seek genetic testing, even if only one has the condition. Sara says despite her nerves, her genetic testing experience was well-managed and nothing but professional, allowing her to comfortably make a decision about her future family planning.

“In the case of the second instance, I was scared and nervous,” she says. “Scared that I might pass on CF to any child I may have, and nervous waiting on the results to see what the odds were of having a child with CF.”

Sara and her partner “discovered that the odds of having a child with full CF would be something like 1 in 200,000”, and that it would be likely that any children they had would be carriers of the CF gene.

But let’s wind back to Sara’s early years with cystic fibrosis – it was during this time that she received a dire warning about her life expectancy.

“The testing when I was younger did confirm that my dad’s gut feeling was right, Dad grew up with asthmatics and knew what it sounded like, and knew I was sounding different in my breathing,” she says of the lead up to her diagnosis. “I know my parents were a little shocked with the results, as I am the first person in my family (both sides) to be known to have CF. 

“At the time of diagnosis, I was told I wouldn’t live past 16 years old, because that’s what was the normal back then.”

But Sara says the development of genetic testing technology allowed her to have a deeper understanding of her condition and how to treat it.

“With the improvement of the genetic testing over the years I have been able to find out exactly what the genetic makeup of my CF is made of, and from what parent I got it from,” she says. “From my dad’s side I have the df508 CF gene (the common variant) and from my mother’s side the R334W variant (not so common).”

Sara learned that she had a milder case, but she’s still incorporated a number of healthy lifestyle practices into her life to prevent the worsening of symptoms.

“As a part of life with CF, diet and exercise play a large role in our treatments,” she says. “While I don’t have to eat a high fat diet like the majority of patients due to my mild symptoms (most CFers have to eat a high fat diet as their bodies cannot process the nutrients as effectively as most people, so cannot gain weight easily), I watch what I eat to have control over my weight, like most people do. 

“Regarding exercise, this is a recommended part of CF treatment plans, as it helps with removing the excess mucus from our lungs enabling us to breathe easier.”

Sara notes the importance of understanding your condition and having access to medical treatments – she says it drastically changed the outcome of her life.

“While I have massively surpassed the original life expectancy that I was given due to having a mild form of CF, I still have most of the issues of living with CF in my lungs,” she says. “Back in September last year my lung function was 41%, but due to a drug trial I am currently undertaking, my lung function has increased to 62%.  

“If I hadn’t gone on the trial, my lungs would have steadily lost their function and I would have been on a lung transplant list. The more that is known about an illness/disease, the more treatments are being created, studied and made available for others worldwide with the same condition.”

Though Sara says we’ve got a long way to go to make genetic testing more accessible, the testing she was able to receive went a long way to aid her treatment and family planning. Contrary to popular belief, genetic testing isn’t just about finding out your risk for a disease, it’s also about learning more about any current conditions you or your family have and how to proceed with treatment and lifestyle decisions.

“Genetic testing can definitely help people, especially if there are known illnesses/diseases in the family,” Sara says. “This can help guide people to areas of treatment to consider before they get the illness/disease to help manage the onset, or guide people to what treatments they can do to live a longer and healthier lifestyle with their illness/disease.”

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