Should Adults in ICU have gene testing? Recent study (possibly) suggests YES

[SorellaLaBefana]

Genetic testing of critically ill adults can yield surprises—and reveal disparities in treatment of Black patients

...Nearly one-quarter of the adult patients had genetic diagnoses pertinent to their symptoms in the ICU, the researchers found—and half of those people had not previously been aware of these genetic disorders. The team also found Black patients were far less likely than white patients to receive these personalized diagnoses before or during their ICU stay...

The study found similar rates of genetic diagnoses among younger and older patients, which challenges the prevailing dogma among disease geneticists...

moz-extension://a6e7ca96-1bf5-45d7-9d20-b41077fe566f/data/reader/index.html?id=20&url=https%3A%2F%2Fwww.science.org%2f Content%2f Article%2Fgenetic-testing-critically-ill-adults-can-yield-surprises-and-reveal-disparities

Trying the above link from DU get error. The Science newspiece has doi: 10.1126/science.zlo6ntr

This is a small (365) single-center study of ICU patients between the ages of 18-40. The above report in Science Newsletter does not given any specific examples of what these potentially relevant genetic conditions might be. Intriguing findings.

The study itself is *supposedly* Open Access (Free), however, unless one is a geneticist, it is pretty obscure as to 'what' were the conditions identified expressed in even clinically understandable terms, much less for the lay person. Won't bother to quote the jargon. Nice graphic at the start



The clearest statement I could find was that "Cardiac, vascular, and malignancy-associated genes predominate..." The Discussion segment says

The results of this study investigating genomic sequencing in the critically ill adult population serve as a pivotal advancement in our understanding of the impact of monogenic disease on adults. Nearly 25% of all UPHS ICU-admitted patients aged 18–40 years have a Mendelian genetic diagnosis related to their ICU admission. For over 75% of these patients, their genetic diagnosis confers specific care-altering management recommendations. The implication here is profound: the clinical benefits of broad genomic testing in critically ill adults are greatly underrecognized, and the implementation of exclusion-based genomic testing in this population could dramatically transform patient care and outcomes.

Our findings challenge the dogma that the likelihood of uncovering actionable genetic diagnoses decreases with increasing age.35 Our diagnostic rate of 24.4% is consistent with similar studies in the critically ill neonatal and pediatric populations (diagnostic yields: 21%–38%),2,3,4,9,10 suggesting that critical illness is a strong predictor of Mendelian disease across the lifespan...

In conclusion, the evidence for the utility of broad, exclusion-based exome or genome sequencing in critically ill adults is compelling, with new diagnoses and potential management changes identified in more than 10% of all adult patients aged 18–40 years admitted to any ICU. As precision medicine continues to revolutionize healthcare delivery, it is incumbent upon us to not only recognize the importance of Mendelian genetic disease in adult morbidity and mortality but also to actively incorporate this knowledge into routine clinical practice to alleviate healthcare disparities and improve healthcare outcomes across the board.

https://www.cell.com/ajhg/fulltext/S0002-9297(25)00238-1

Humm. For some reason when trying the above link from DU get "an error has occurred". The Citation export from the article is

Exclusion-based exome sequencing in critically ill adults 18–40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing
Gold, Jessica I.Mansfield, Adam J.PoindeTxter, Afiya et al.
The American Journal of Human Genetics, Volume 0, Issue 0

"Volume 0, Issue 0" makes one a bit suspicious. There is no DOI. The American Journal of Human Genetics is a long standing and (at least formerly) valid journal established in the middle of the last century. No idea of what the problem may be.

Thought this would be an interesting, QUICK post!?

Frankly, although the "Conclusion" (vide supra) reads, to me, more like a financial prospectus than a scientific conclusion there may be clinical value in such testing.

However, the challenges facing our healthcare industry (it cannot be called a system) are of less speculative and of more immediate import: Access; Public Heath Measures and Science Based practices

[purple_haze]

1. absolutely not

i trust zero pharma companies. i am giving no one access to my dna.

[Ocelot II]

2. Not unless they specifically consent to it.

[Raven123]

3. Absolutely not.

[Rebl2]

4. Only if

they get patients permission.