During Cystic Fibrosis Awareness Month, We’re Celebrating the Benefits of Early Detection and Intervention
Multiplexed genomic testing can identify cystic fibrosis early and pave the way for lifelong benefits from early administration of therapies and other interventions
[thumbnail]
Benefits of Early Detection and Intervention for Cystic Fibrosis
For many people, a cystic fibrosis (CF) diagnosis can be devastating—the rare genetic disorder affects breathing and digestion, potentially leading to lung damage, infections, and malnourishment. Because cystic fibrosis is progressive, symptoms tend to worsen over time. The life expectancy of people with cystic fibrosis is significantly shorter than average: babies born with the disorder in recent years are expected to live to around age 56.
Be that as it may, there has recently been tremendous progress in CF treatment. Not long ago, the typical life expectancy for patients with cystic fibrosis was in the 30s. Today, some patients are able to live decades longer than initially expected.
The Role of Multiplexed Genomic Testing in Cystic Fibrosis Detection
Much of that progress is due to new therapeutic options that have done wonders for patients’ prognosis. One such approach is gene therapy, which has been used in research studies as well as clinical trials to repair the aberrant CFTR gene responsible for the phenotype of patients with cystic fibrosis.
The month of May has been designated Cystic Fibrosis Awareness Month to help call attention to the challenges many people with this disorder face and to celebrate advancements in their care. Here at Luminex, we’re pleased to support and educate people about cystic fibrosis.
Cystic Fibrosis Carrier and Newborn Screening Guidelines
While therapies and other types of intervention are key to offering CF patients better health outcomes, getting patients on those therapies is only possible with a proper diagnosis. That’s why we are proud to offer three panel-based tests that utilize multiplexing to support accurate and early detection of cystic fibrosis by detecting the genetic variants associated with CF across a broad range of ethnicities.
Here’s a quick overview of our cystic fibrosis product offerings:
- xTAG® CF39v2 Kit: Detects 39 mutations/variants that includes ACMG 23 and 16 additional mutations commonly found in the US population
- xTAG® CF60v2 Kit: Detects 60 mutations/variants that includes ACMG 23 mutations and 37 North American most common (16 + 21) mutations
- xTAG® CF71v2 Kit: Detects 71 mutations that includes ACMG 23 mutations and 48 European/North American most common (16 + 32) mutations
Recommendations for carrier screening and newborn screening for cystic fibrosis mutations have expanded over time. Most recently, the American College of Obstetricians and Gynecologists updated its guidelines to encourage carrier screening for cystic fibrosis for all women who are pregnant or considering becoming pregnant, regardless of ancestry or ethnicity. This was a much-needed expansion that overcame the limitations of previous ancestry-specific recommendations. In addition, the Cystic Fibrosis Foundation cites the importance of newborn screening to enable early detection and intervention.
We are proud to support clinical laboratory teams that provide cystic fibrosis screening or diagnosis to help give patients a better chance at a healthy life. Please help this community by spreading the word about Cystic Fibrosis Awareness Month!
Dialog 