When thinking about genetic conditions, one that comes to mind may be cystic fibrosis (CF), especially as it is one of the most common genetic conditions in the general population. Approximately 1 in 45 people are carriers of CF and we know that if you and your partner are both carriers of CF, there will be a 25% (1 in 4) chance of having a child with CF.

CF affects many organs in the body: especially the lungs, pancreas and sweat glands. The reason being that the gene associated with CF is incredibly important in the production of mucus.

We have more than 20,000 genes in the human body, these genes are like recipes; they provide important instructions that guide how we grow and develop in our surrounding environments. We all have variations in our genes, most of which make us unique. However, there are some variations that can cause health conditions, especially if they are in genes that are important for development, such as the gene associated with CF, known as the CFTR gene. The CFTR gene is responsible for many functions in the body, including moving chloride (a component of salt) to the cell surface. Without chloride, the mucus in the body becomes thick and sticky and struggles to move through the airways, increasing the chance of infections, inflammation and respiratory infections. This can also cause issues with maintaining the levels of enzymes and salt from our diet that our bodies need.

We all have two copies of each gene, one from our mother and one from our father and so people who have a variation in both copies of their CFTR genes will typically be affected by CF and experience symptoms. Carriers of the condition only have a variation in one copy of their CFTR gene and are not expected to have symptoms of the condition.

While the management and treatment for CF has come a long way, it is still considered to be a life limiting condition. Many children spend lengthy periods of time in hospital to help manage infections and, for some people, the lung damage caused over a lifetime of recurrent infections will mean they may require transplants to help improve quality of life. Technologies, such as gene therapy, and medications are being developed with the aim to manage the symptoms people with CF experience and improve their quality of life.

Technology is amazing as it puts you in the driver's seat and, for some people, understanding the chance of having a child with a genetic condition prior to or during early pregnancy can help them feel empowered to make choices that are right for them.

As it is common to be a carrier of CF, carrier screening is an option for those who want to understand the chance of having a child with CF. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are a carrier of CF, as well as nearly 300 other genetic conditions. This information helps people make informed decisions about their family planning and pregnancy management.

For those who are found to have an increased chance of having a child with a genetic condition, they can use this information to help make choices about reducing the chance of having a child with the condition or to prepare themselves for the birth of their baby. Eugene genetic counsellors support individuals and couples before, during and after results, and are available to help you make the best decision, based on your values and needs.

Head to Eugene’s website to find out more about reproductive carrier screening test and how our genetic counsellors can support you. Use code: Bumpnbub50 for $50 off your genetic carrier screening.  

By Ellie Greenberg