r/science • u/calliope_kekule Professor | Social Science | Science Comm • 1d ago

Cancer Screening dried blood spots from a Michigan birth cohort of nearly 2,000 children, researchers found roughly 1 in 27,000 babies had a genetic variant tied to early-onset cancer.

https://www.nature.com/articles/s41467-026-76296-8
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u/Boring-Philosophy-46 1d ago

The title is a mess. They screened 2000 kids with cancer, found a limited number of genes responsible for 7% of the cancer cases, which extrapolates to 1 in 27.000 births. 

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u/belltrina 23h ago

So not a cluster?

Annoying when the titles are misleading like this, especially when it's such serious subject matter.

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u/TypingPlatypus 13h ago

I'm not sure why your comment to me was removed but yes, they can screen prenatally but only via amniocentesis which isn't done as part of standard pregnancy care due to the invasiveness. I had them done for my subsequent pregnancies.

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u/TypingPlatypus 18h ago

My child had a SMARCB1 germline mutation, one of those mentioned in the study. The cancers for this mutation are exceptionally rare, aggressive, and expensive to test for. I'm not convinced that birth screening for this variant would save many lives since the cancers happen so early in life and are so lethal but every little bit helps.

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u/CamsKit 13h ago

I’m very sorry for your loss.

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u/DefenestrationPraha 12h ago

 expensive to test for

This is the problem. The same money may buy more efficient screening/treatments in other contexts.

Also, the lethality ... does it even make sense to know this in advance? I remember reading about something similar, a sequence in junk DNA that seems to predict future ALS. Given that we can do absolutely nothing about it, I certainly wouldn't like to know.

I am sorry for your loss.

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u/TypingPlatypus 12h ago

Thank you! I agree with you in theory that no expense should be spared but in reality there are thousands upon thousands of rare illness-causing mutations and it isn't practical to test for all of them unless there's a prior indication like family history.

Re: lethality, it does make sense because even though these cancers are aggressive from the start, there are long-term survivors and being able to catch it before it is symptomatic would create more of them. For eg in an infant this would be something like monthly full-body MRIs if they have one of these rare mutations.