You Decide

Cystic Fibrosis Newborn Screening

You Decide

Two different ways to introduce extended genetic testing for cystic fibrosis are being considered. They are described here as ‘Specific’ and ‘Sensitive’.

To help you decide which approach you would prefer, the following filmed experiences illustrate parents’ real-life reflections on receiving different outcomes from newborn screening.

Whether the extended genetic tests are undertaken in a ‘Specific’ or ‘Sensitive’ way will affect the number of parents receiving the different outcomes.

After reading the Safeguarding message, please play through the experiences and complete the polls asking for your initial thoughts.

Your view may change as you go through the experiences. At the bottom of the page, when you have watched all 4 experiences you are asked to share your final decision via the ‘My Decision’ survey. 

To help you decide whether you would prefer a ‘Sensitive’ or a ‘Specific’ testing approach, the following activities, illustrate parents’ experiences of receiving different screening results. Whether the test is ‘Sensitive’ or ‘Specific’ will affect the number of parents receiving these different results. 

1: A normal newborn screening result. (Cystic Fibrosis is not suspected).

 

Watch this film to understand the experience of receiving a normal newborn screening result (cystic fibrosis not suspected).

2: Receiving a ‘Cystic Fibrosis screen positive, inconclusive diagnosis’ (CFSPID) designation.

 

Watch this film to understand the experience of receiving a designation of ‘cystic fibrosis, screen positive, inconclusive diagnosis’ (CFSPID) through newborn screening. Please then select your testing preference from the options below.

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  • Using the 'Specific' approach would reduce the number of babies who are designated  CFSPID from 25 to less than 5 per year.

 

 

  • Using the 'Sensitive' approach is likely to increase the number of babies who would receive a CFSPID designation from 25 to about 80 babies per year.

3: A 'missed' (or false negative) newborn screening result.

 

Watch this film to understand the experience of cystic fibrosis being missed through newborn screening, but later diagnosed. Please then select your testing preference from the options below.

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  • Using the 'Specific' approach would mean that the parents of around 15 - 16 babies each year would be told that their baby does not have cystic fibrosis, when in fact they do. This is compared to 5 or 6 babies currently.

 

 

  • Using the 'Sensitive' approach it is predicted that no additional, and potentially fewer babies would be missed compared to the current method (5 - 6 per year).

4: A Cystic Fibrosis suspected, true positive screening result.

 

Watch this film to understand the experience of receiving a true positive cystic fibrosis suspected newborn screening result. Please then select your testing preference from the options below.

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  • Using the 'Specific' approach will mean most babies with cystic fibrosis would be identified by screening, allowing them to have an early diagnosis, monitoring and treatment (235 - 240 babies per year).

 

 

  • Using the 'Sensitive' approach will mean that more babies with cystic fibrosis would be identified by screening allowing them to have early diagnosis, monitoring and treatment (250 + babies per year).


You Decide: 'Specific' or 'Sensitive'?

Thank you for watching the experiences and sharing your views as you went through. Here is a summary of how the ‘Specific’ and ‘Sensitive’ approaches are expected to affect newborn screening results. Please now click on the ‘My Decision’ survey below to share your final view.

Current Newborn Screening
About 250 babies per year are identified as having cystic fibrosis as a result of screening. This allows them to have an early diagnosis, monitoring and treatment.
About 5-6 babies per year are missed by newborn screening and diagnosed later in life after developing symptoms.
About 25 babies per year with the current screening program are designated Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.
A more 'Specific' extended genetic test
235-240 babies per year: Most babies with cystic fibrosis would be identified by screening allowing them to have an early diagnosis, monitoring and treatment.
About 15-16 babies per year with cystic fibrosis might be missed. They would be diagnosed later in life after developing symptoms.
Fewer than 5 babies per year would be designated Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.
A more 'Sensitive' extended genetic test
250+ babies per year: More babies with cystic fibrosis would be identified by screening allowing them to have early diagnosis, monitoring and treatment. ​
Fewer than 5-6 babies per year with cystic fibrosis would be missed and diagnosed later when symptoms developed.
About 80 more babies per year would be designated Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.
My Decision

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