1. Introduction

Thank you for your willingness to provide feedback on this CFF-funded screening improvement project. An expert panel reached consensus on 17 statements regarding genetic counseling for infants with a positive CF newborn screening result when one or more CFTR* genetic variants (mutations) are identified. We would like feedback on these consensus statements from key stakeholders in the CF community. 

For additional context, please see the full consensus development document (available here), and/or the brief executive summary (available here).  The full list of 17 statements is available in both documents.

This survey tool collects basic demographic information (NOT including any identifying information; you will remain anonymous), specific feedback on each statement, and more general feedback at the end.

Throughout this survey, you will see “a positive CF newborn screening result” abbreviated as CFNBS+. Infants with CFNBS+, who have been identified through a newborn screening algorithm as having an elevated IRT and either 0, 1, or 2 CFTR variants, are referred to CF centers for diagnostic resolution to either: 1) CF carrier; 2) affected with CF; or 3) CFTR-related Metabolic Syndrome/CF Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID).

*Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR)
 
12% of survey complete.

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