Learning Objective #1: Describe the target populations for cystic fibrosis screening and the carrier frequencies for five major ethnic groups

Learning Objective #2: Discuss the limitations of CF screening in high risk and low risk populations

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Cystic Fibrosis is one of the most well described autosomal recessive disorders and is the most common life-shortening genetic disease among non-Hispanic Caucasians. The Cystic Fibrosis Foundation (CFF) estimates that over 10 million Americans are asymptomatic CF carriers and more than 1400 will be diagnosed with the disease in 2004. In the United States, the most common and serious mutations are found among Caucasians of Northern European and Ashkenazi Jewish descent where carrier rates can be as high as 1 in 29. Among other ethnic groups, mutations are less frequent or more unusual, making standard screening tests less sensitive and specific. After many years of discussion, in 2001, the American College of Obstetricians and Gynecologists (ACOG) recommended that all couples seeking preconceptual counseling or prenatal care be offered CF screening. Full implementation of the recommendations has been challenging for many practice settings because providers are often not prepared to offer pre-test counseling or lack the knowledge to fully explain CF results when laboratory reports return. Nurses are uniquely qualified and perfectly positioned to provide this type of education and counseling, and nurses emerging from entry level educational programs are prepared to provide basic genetic services. Unfortunately, many nurses who completed their education prior to 2000 report that their understanding of genetics is poor and admit to feeling ill-prepared to address genetic concepts with their patients. Nurses should leave this session more knowledgeable about genetics in general, Cystic Fibrosis in particular, and should feel able to assist patients in making informed genetic decisions.