Related Experiment Video
Updated: May 14, 2026
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why
Belinda J McClaren1, Maryanne Aitken, John Massie
1Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Insights
Cascade testing for cystic fibrosis (CF) after a child’s diagnosis is low. Relatives’ testing decisions depend on their relationship to the child, knowledge, and perceived relevance, highlighting the need for parental support in genetic information sharing.
Area of Science:
- Genetics
- Public Health
- Pediatrics
Background:
- Newborn screening for cystic fibrosis (CF) is expanding.
- Cascade testing of relatives after a child's CF diagnosis is understudied.
- Previous research indicated low rates of cascade testing over time.
Purpose of the Study:
- Investigate motivators and barriers to cascade genetic testing for cystic fibrosis.
- Understand how parents communicate genetic information to relatives.
- Identify factors influencing relatives' decisions to undergo carrier testing.
Main Methods:
- Conducted interviews with 30 parents of children diagnosed with CF.
- Collected questionnaires from 225 relatives (79% response rate).
- Assessed relatives' relationship to the child, knowledge of CF, and testing history.
Main Results:
- Relatives' relationship to the child and prior knowledge were associated with testing.
- Motivations for testing included curiosity, reproductive planning, and informing other relatives.
- Barriers to testing were perceived irrelevance, lack of awareness, and deferral.
- Parental communication strategies influenced relatives' access to carrier testing.
Conclusions:
- Newborn screening programs should support parents in communicating genetic information.
- The perceived relevance of testing is often tied to life stage.
- Ongoing support and communication can facilitate relatives' informed decisions about testing at a time convenient for them.
Purpose:
Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing.
Methods:
Parents were interviewed about communicating the genetic information and also asked to recruit their relatives to receive a specifically developed questionnaire.
Results:
Thirty parents were interviewed and addresses of 284 relatives were provided; completed questionnaires were received from 225 (79%). A relative's relationship to the child, as well as knowledge, is associated with having had carrier testing. Relatives' reasons for testing included curiosity and wanting information for other relatives and for reproductive planning. Reasons for not testing were perceived irrelevance, lacking awareness, and viewing it as something to do in the future. Parents communicated the genetic information to relatives in various ways, which contributed to whether relatives accessed carrier testing.
Conclusion:
Newborn screening programs should provide support to parents to aid communication of genetic information to relatives. (Ir)relevance of testing is often linked to life stage; ongoing support and communication may allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.
More Related Videos
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
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, but...
01:24Cystic Fibrosis: Management
Sinus disease and chronic sinusitis...
01:49Probability Laws
01:35Pedigree Analysis
01:28Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes