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New Guidelines Aim to Enhance Cystic Fibrosis Newborn Screening
The Cystic Fibrosis Foundation in the United States has introduced its first comprehensive guidelines for newborn screening of cystic fibrosis (CF), aiming to ensure that infants from all racial and ethnic backgrounds are diagnosed promptly. This guideline is based on extensive systematic literature reviews and perspectives gathered from a diverse group of stakeholders, including parents, CF specialists, public health officials, primary care physicians, and genetic counselors. The findings are published in the International Journal of Neonatal Screening.
Cystic fibrosis is a hereditary condition that leads to significant respiratory and digestive issues. While all states currently implement newborn screening for CF, there is considerable variation in the practices and genetic tests employed. This inconsistency can lead to missed or delayed diagnoses, adversely affecting health outcomes for affected individuals.
Dr. Susanna McColley, a leading pediatric pulmonologist at Ann & Robert H. Lurie Children’s Hospital of Chicago and a professor at Northwestern University’s Feinberg School of Medicine, emphasizes the disparity in detection rates among different racial and ethnic groups. “Delays in diagnosis are more prevalent in infants who are Black, Hispanic, or Asian largely because the gene variants that cause CF are less frequently included in the panels used for screening these populations. As a result, many of these infants receive negative screening results and do not get diagnosed until later when they show clinical symptoms, which can lead to a more severe progression of the illness,” she explains.
Dr. McColley further notes that the most prevalent gene variant associated with CF is primarily found in individuals of European descent, reinforcing the need for a more inclusive screening approach. “It’s crucial to understand that cystic fibrosis can affect infants of any racial or ethnic background, so our newborn screening panels must reflect the genetic diversity of the entire population,” she adds.
The newly established guidelines encourage states to include testing for all known CF-causing gene variants, which, as of September 2024, numbered 1,085. This represents a shift from the current state practices, where testing regimens may encompass only the most common variant or a broader selection of gene anomalies.
Recognizing that implementing these comprehensive changes will require time and phased strategies, Dr. McColley suggests that interim measures could enhance screening efficacy. “In instances where a state is unable to test for every CF gene variant, performing genetic sequencing alongside the existing panel could be a viable solution,” she states.
Another pivotal recommendation in the guideline includes the measurement of immunoreactive trypsinogen (IRT) levels, a pancreatic chemical that tends to be elevated in individuals with CF. This IRT test is universally conducted in all states prior to genetic testing. According to the guideline, if IRT levels are significantly elevated, CF should be suspected even in cases where genetic results do not indicate the presence of the condition—unless the genetic test comprehensively includes all known CF-causing variants.
To facilitate quicker diagnostic evaluations, the guidelines advocate for improved communication, suggesting that both primary care providers and CF specialists be alerted when screening results are abnormal or positive. This represents a significant change from current practices, which often do not incorporate a CF specialist in the follow-up notification process.
“Timely communication is critical. There needs to be a more coordinated effort between public health departments and healthcare providers to ensure prompt follow-up on positive screening results,” stresses Dr. McColley. “It is equally essential for parents to actively inquire about their child’s newborn screening results and to advocate for prompt follow-up if any results are abnormal.”
For further insights into cystic fibrosis and the evolving practices around newborn screening, readers can refer to a recent report co-authored by Dr. McColley in collaboration with the Cystic Fibrosis Foundation. Additionally, Dr. McColley discusses the importance of newborn screening and her initiatives to promote equitable early diagnosis and care for CF on the In Pursuit podcast presented by the Stanley Manne Children’s Research Institute at Lurie Children’s.
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