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Genomics Day 2005: Genomics Day 2005: Public Health Genomics at CDC

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Group 4: Public Health Research and Practice

Newborn screening for cystic fibrosis: benefits, risks and recommendations
Grosse SD, Boyle CA , Green DR.

Poster: Newborn screening for cystic fibrosis: benefits, risks and recommendationsCystic Fibrosis (CF) is an autosomal recessive genetic disorder that affects approximately 1/3,700 births in the United States. CF prevents the normal functioning of multiple organ systems and can affect the lungs and upper respiratory tract, gastrointestinal tract, pancreas, liver, sweat glands, and genitourinary tract. The median predicted average age of survival in 2001 was age 33 years.

In the fall of 2003, the National Center on Birth Defects and Developmental Disabilities along with the Cystic Fibrosis Foundation held a meeting to address newborn screening for cystic fibrosis. The meeting had three objectives: 1) to review and evaluate the scientific evidence on benefits and risks of newborn screening for CF; 2) to review screening, diagnostics and follow-up concerns in CF newborn screening decision making; and 3) to disseminate information about models and best practices for states that choose to adopt newborn screening for CF.

A review of the evidence using the Strength of Recommendation Taxonomy (SORT) revealed that while CF does not fit the traditional model for newborn screening it does receive a B recommendation (recommendation based on inconsistent or limited-quality patient-oriented evidence). This recommendation was based on moderate improvements in growth, cognition, a reduction in CF-related mortality, hospitalizations and possible cost for children diagnosed through newborn screening. While CF newborn screening has not shown improvements in pulmonary outcomes and posses some risk from of harm without adequate infection control the benefits of screening outweigh the potential risks.

On October 15th of 2004 the CDC published a MMWR Reports and Recommendations reviewing the benefits, harms and recommendations for CF newborn screening. The CDC report concluded “The magnitude of the health benefits from screening for CF is sufficient that states should consider including routine newborn screening for CF in conjunction with systems to ensure access to high-quality care.”



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