Should every newborn be tested genetically?

[Francesco Cardona]

You might have come across this editorial in the Journal "Nature Medicine".

Most countries have implemented newborn screening and with affordable genetic testing available, there have been studies looking into screening with genetic tests. But what should be tested for? How do we handle markers for diseases that occur later in life? How do we deal with the emotional aspects for parents, children and care givers? And how do we deal with requests from third parties?

https://www.nature.com/articles/s41591-024-03227-9

 

[Stefan Johansson]

Great editorial and I agree the final words that

Quote

...various stakeholders need to start thinking now about how to accommodate the needs of people who receive genetic diagnoses in the long term, in terms of continued care, data protection and psychological ramifications.

Generally speaking, I am less in favor of testing for disease that lacks preventive or therapeutic treatments. I am not too much into this domain of rare diseases myself, but my clinical experience is that infants/children with really rare disorders, families are often glad to get a "name" for the disease but can also be disappointed to learn there is not much to offer except more general support (and management of symtoms)

I see a risk this kind of screening would mostly be used to satisfy a well-resourced middle class (that would also cover the testing costs themselves), and become another "reassurance thing" those families do, to further dig into the good health of their newborn, along the lines what is "nice to know" rather than what is a "need to know"

[Abdul kasim jaleel ahmed]

It is individual practice and case by case scenario, but i will recommond screening for PID in the neonatal period if facilities are there. 

[psasidha]

This may be offered to parents, but the parents and the physician should make the decision together.

[Dr talal]

Newborn screening and genetic testing are complex issues. We need to think about what to test for, how to handle results that show diseases that'll appear later in life, and how to deal with the emotional impact on families. Some docs think we shouldn't test for diseases with no cure, and that this tech might only benefit rich families who want reassurance. Parents and docs should decide together whether to do these tests.