Carrier Screening and Cystic Fibrosis

CF Awareness - By The Numbers

Making the Connection: Carrier Screening and Cystic Fibrosis

For many of us who work in the genetics world, or those active in the cystic fibrosis (CF) community, we have a deep understanding of the disease and the statistics around it. However, given the severity of the disease and the frequency of diagnosis (more than 3,500 new cases a year), it’s surprising that there is still a lack of general awareness and knowledge for cystic fibrosis.

Statistics tell us that in the United States, if you’re in a room of 31 people there is likely at least one person around you who carries a genetic mutation for CF. As a carrier of a CF mutation you often show no signs or symptoms. All of us are likely passing by people every day that are silent carriers for CF, and the majority of them don’t know it.

Here’s where carrier screening comes in: Carrier screening can help determine a couple’s reproductive risk of having a child born with cystic fibrosis. If a woman and her reproductive partner both carry a mutation for CF, there is a 25% chance that their baby will be born with CF. For couples planning a family, the best first step is for the woman to have a carrier screening test to determine her carrier risk. Obviously it’s very common to be a carrier, but the biggest risk is introduced if both partners are carriers. If it turns out that both partners are carriers, the good news is, these results are actionable and having a healthy family is still a possibility.

Good Start Genetics offers a couple of different options for carrier screening. You can go through your doctor, perhaps at an IVF clinic or an OB/GYN, and have the test done with our clinical product, GeneVu. Or if you prefer an at-home option, you can order VeriYou, our at-home, clinical grade spit kit. VeriYou offers two different test panels, both of which include screening for CF. The first screens for just CF and spinal muscular atrophy (SMA), and the second panel screens for 19 disorders total, mainly Ashkenazi Jewish genetic disorders.

Starting the CF conversation.

We know that these statistics can be scary, but we think it’s important share our knowledge and expertise about cystic fibrosis and carrier screening. If you’ve learned something today by reading our post, you should share this information with your friends and family to help spread awareness. What else can you do to help? Here are some great ideas to get you started:

Get informed.

Give back.

  • Donate directly to the CF Foundation here.
  • Find and get involved with a local CF Foundation chapter here.
  • Follow Good Start Genetics on Twitter and Facebook and for every retweet/share that we get of this tweet or this Facebook post, we’ll donate $1 to the CF Foundation during the month of May (up to $5k total)

Spread the word.

Social media can be a powerful channel for CF awareness, so consider sharing this blog post (or any of the other resources we provided) on your social channels.