MedCity Influencers

The Versatility of Genetic Testing: Cystic Fibrosis

Genetic testing can play a critical role in helping potential parents understand their options if they are carriers for a wide array of genetic disorders, such as cystic fibrosis.

Everyone planning on starting a family has one thing in common: they want a healthy baby. There are countless inheritable traits, including eye color, height and shoe size, but it’s other genetic factors parents often don’t consider that can have a life-long impact the health of a child. Genetic testing can play a critical role in helping potential parents understand their options if they are carriers for a wide array of genetic disorders. One such disorder that can be found through these tests is cystic fibrosis (CF).

Those living with CF have a defect in their CTFR gene, which affects the movement of salt and water flowing in and out of the body’s cells. This defective CTFR gene creates a protein that produces abnormally thick mucus resulting in chronic respiratory, digestive and growth problems, according to the National Heart, Lung and Blood Institute (NHLBI).

While CF is an inherited disorder, it will only affect a child under one condition: as depicted in the following diagram, each parent must be a carrier for CF and both parents have to pass that trait onto the child. When both parents are carriers for CF, it can lead to four different scenarios, among theGSG_CF_MedCity_Diagramm a 25 percent chance of a child developing CF, according to the NHLBI.

While many are skeptical of genetic testing, it is actually a very simple, yet critical part of a pre-pregnancy plan. Knowing the results can yield powerful and meaningful information that helps prospective parents understand how their genetics could impact their children.

The NHLBI has found that “there are more than a 1,000 known defects that can affect the CFTR gene. Dependent on the gene defect, the severity of CF can vary with each case.” Although each patient’s condition is unique, treatment typically consists of any combination of trips to a CF care center, airway clearance techniques, medications, nutritional therapies and a fitness plan, according to the Cystic Fibrosis Foundation.

While there isn’t a cure for CF, people with the disorder can live full and active lives. Those with CF can still participate in day-to-day activities, such as going to school and work. There are also clinical trials being conducted and evolving treatment options. You can learn more about the varying clinical trials underway from the Cystic Fibrosis Foundation.

The most important aspect when it comes to living with or caring for someone with CF is ensuring they have a proper medical team of doctors, nurses and respiratory therapists who specialize in this disorder. The role of genetic testing is to provide parents and prospective parents with the most knowledge as early as possible, so they can make fully informed decisions.

For more information on genetic carrier screening, please visit www.goodstartgenetics.com.

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