Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis

Area of Science:

• Medical Genetics
• Pulmonology
• Clinical Practice

Background:

• Cystic Fibrosis (CF) affects 4-5% of patients diagnosed in adulthood, often presenting with milder symptoms.
• Siblings of CF patients are at genetic risk for the disease, potentially with a subtler phenotype.
• Current diagnostic testing recommendations for siblings are inconsistent, especially for later-life CF diagnoses.

Purpose of the Study:

• To investigate current practices and recommendations for diagnostic testing of siblings of cystic fibrosis patients.
• To identify differences in sibling testing approaches between pediatric and adult CF care settings.
• To explore barriers and facilitators influencing sibling testing decisions in CF care.

Main Methods:

• A survey was distributed to cystic fibrosis clinicians to gather data on their sibling testing recommendations.
• The survey collected information on testing practices based on patient age at diagnosis (pediatric vs. adult).
• Respondents reported on preferred diagnostic methods and perceived barriers to sibling testing.

Main Results:

• 82.5% of pediatric and 36.4% of adult care providers always recommended sibling testing for newly diagnosed CF patients.
• Adult care providers were more likely to recommend testing only if the sibling presented with symptoms (33.3%).
• Newborn screening status influenced pediatric recommendations, while pediatricians favored sweat chloride tests, and adult providers preferred familial mutation analysis.

Conclusions:

• Significant disparities exist in cystic fibrosis sibling testing recommendations between pediatric and adult care.
• Barriers such as cost, insurance, and logistical issues impede consistent sibling testing.
• Enhanced roles for genetic counselors and standardized practice guidelines are needed to improve familial CF care and testing.