CF carrier testing: Experience of relatives.
N P Callanan1, D Bloom, J R Sorenson
1Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Journal of Genetic Counseling
|November 16, 2013
Summary
Genetic counseling and cystic fibrosis (CF) carrier testing are effective for individuals with a family history of CF. Further strategies are needed to address post-counseling concerns about children
Area of Science:
- Medical Genetics
- Genetic Counseling
Background:
- Genetic counseling and cystic fibrosis (CF) carrier testing are recommended for individuals with a positive family history of CF.
- Understanding the patient experience with these services is crucial for optimizing care.
Purpose of the Study:
- To explore the experiences of individuals and couples undergoing genetic counseling and CF carrier testing due to a family history of CF.
- To identify potential challenges and areas for improvement in genetic counseling services for this population.
Main Methods:
- Structured telephone interviews and focus group discussions were conducted.
- Participants included individuals and couples with a known family history of CF who had received genetic counseling and carrier testing.
Main Results:
- Traditional genetic counseling was generally effective and well-received by the study population.
- Participants demonstrated high knowledge of CF, carrier risk, and motivation for testing.
- Few difficulties were reported immediately following the disclosure of carrier status.
Conclusions:
- Genetic counseling and CF carrier testing are effective for individuals with a family history of CF.
- Post-counseling concerns regarding testing of children and insurance implications may arise.
- Development of strategies for ongoing support and education is necessary.
Related Concept Videos
01:22Carrier Generation and Recombination
1.5K
Carrier generation is the process by which electron-hole pairs (EHPs) are created within the semiconductor. In direct-bandgap semiconductors, such as gallium arsenide (GaAs), this occurs efficiently when energy absorption prompts valence electrons to leap into the conduction band, leaving behind holes.
This process is given by the generation rate G and is efficient due to the conservation of momentum between the valence band maximum and conduction band minimum.
Indirect generation involves an...
This process is given by the generation rate G and is efficient due to the conservation of momentum between the valence band maximum and conduction band minimum.
Indirect generation involves an...
1.5K
01:23Cystic Fibrosis: Pathogenesis
1.1K
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
1.1K