Improving Genetic Competencies: Using Cystic Fibrosis as a Prototype for Autosomal Recessive Conditions

2.50
Hdl Handle:
http://hdl.handle.net/10755/149861
Type:
Presentation
Title:
Improving Genetic Competencies: Using Cystic Fibrosis as a Prototype for Autosomal Recessive Conditions
Abstract:
Improving Genetic Competencies: Using Cystic Fibrosis as a Prototype for Autosomal Recessive Conditions
Conference Sponsor:Sigma Theta Tau International
Conference Year:2005
Author:Seibert, Diane, PhD, CRNP
P.I. Institution Name:Uniformed Services University of the Health Sciences
Title:Chair, Department of Health Systems, Risk & Contingency Management
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.
Repository Posting Date:
26-Oct-2011
Date of Publication:
17-Oct-2011
Sponsors:
Sigma Theta Tau International

Full metadata record

DC FieldValue Language
dc.typePresentationen_GB
dc.titleImproving Genetic Competencies: Using Cystic Fibrosis as a Prototype for Autosomal Recessive Conditionsen_GB
dc.identifier.urihttp://hdl.handle.net/10755/149861-
dc.description.abstract<table><tr><td colspan="2" class="item-title">Improving Genetic Competencies: Using Cystic Fibrosis as a Prototype for Autosomal Recessive Conditions</td></tr><tr class="item-sponsor"><td class="label">Conference Sponsor:</td><td class="value">Sigma Theta Tau International</td></tr><tr class="item-year"><td class="label">Conference Year:</td><td class="value">2005</td></tr><tr class="item-author"><td class="label">Author:</td><td class="value">Seibert, Diane, PhD, CRNP</td></tr><tr class="item-institute"><td class="label">P.I. Institution Name:</td><td class="value">Uniformed Services University of the Health Sciences</td></tr><tr class="item-author-title"><td class="label">Title:</td><td class="value">Chair, Department of Health Systems, Risk &amp; Contingency Management</td></tr><tr class="item-email"><td class="label">Email:</td><td class="value">dianeseibert@comcast.net</td></tr><tr><td colspan="2" class="item-abstract">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.</td></tr></table>en_GB
dc.date.available2011-10-26T10:11:07Z-
dc.date.issued2011-10-17en_GB
dc.date.accessioned2011-10-26T10:11:07Z-
dc.description.sponsorshipSigma Theta Tau Internationalen_GB
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