Why Science is Hard

Women receiving inflated risks from genetic testing could undergo unnecessary breast surgery

Sep 2023, phys.org

https://medicalxpress.com/news/2023-09-women-inflated-genetic-unnecessary-breast.html

Women who discover outside of a clinical setting that they carry a disease-causing variant in one of the BRCA genes may be told their risk of breast cancer is 60–80%. In fact, the risk could be less than 20% if they do not have a close relative with the condition.

Until recently, women who received BRCA results did so because they attended clinic due to symptoms, or a family history of disease.

However, many people now pay for home DNA testing kits, or are given results as part of taking part in genetic research, without ever having any personal link with breast cancer. The new research was conducted to get a better idea of the true risk level of these BRCA variants in the general population.

The research team found a similar result when looking at genetic risk of Lynch syndrome, a genetic condition which increases the risk of colon cancer and some other cancers.

via University of Exeter: Influence of family history on penetrance of hereditary cancers in a population setting, eClinicalMedicine (2023). dx.doi.org/10.1016/j.eclinm.2023.102159

http://dx.doi.org/10.1016/j.eclinm.2023.102159

Image credit: AI Art - Egg - 2023

The Big Hard

Drinking alcohol brings no health benefits, study finds

Apr 2023, phys.org

https://medicalxpress.com/news/2023-04-alcohol-health-benefits.html

You've been told that one drink a day is actually good for your health -- but it's so hard to believe, right? It's good for your heart! It can't be true right?

No, it's not true. We screwed up, for decades, using one bad study after another to support a crazy idea. Can it be true that not one person stopped and said, wait, that sounds too good, let me double check that study. Not until now. 

It's been named "former-drinker bias", and it will be in every public health textbook for the rest of time starting now, as an example of what can go wrong with biostatistics and epidemiological research. 

We heard rumblings of this a while back...

• via Public Library of Science: John U, et al. (2021) Alcohol abstinence and mortality in a general population sample of adults in Germany: A cohort study. PLoS Med 18(11): e1003819. doi.org/10.1371/journal.pmed.1003819 https://doi.org/10.1371/journal.pmed.1003819
• Baselines, Biases and Big Data Problems - The Secrets of Statistics and the Magic of Metrology https://networkaddress.blogspot.com/2022/04/baselines-biases-and-big-data-problems.html

And now this article sums it up pretty well:

• Former drinkers aren't lifetime abstainers -- For example, many studies tend to place former drinkers in the same group as lifetime abstainers, referring to them all as "non-drinkers," Stockwell said.
• But former drinkers typically have given up or cut down on alcohol because of health problems, Stockwell said. The new analysis found that former drinkers actually have a 22% higher risk of death compared to abstainers.
• Their presence in the "non-drinker" group biases the results, creating the illusion that light daily drinking is healthy, Stockwell said.
• It's called "former-drinker bias"; and the reason it's been hiding in our public health research for decades? 
• "This is an overview of a lot of really bad studies," Stockwell said. "There's a lot of confounding and bias in these studies, and our analysis illustrates that."

via Canadian Institute for Substance Use Research at the University of Victoria in British Columbia:  Jinhui Zhao et al, Association Between Daily Alcohol Intake and Risk of All-Cause Mortality, JAMA Network Open (2023). DOI: 10.1001/jamanetworkopen.2023.6185

https://dx.doi.org/10.1001/jamanetworkopen.2023.6185

Image credit: AI Art - My Feet On Yours by Disney Concept Artist - 2022

Post Script:

Continuum of Risk

• 2 standard drinks or less a week -- You are likely to avoid alcohol-related consequences for yourself or others at this level.
• 3 to 6 standard drinks a week -- Your risk of developing several types of cancer, including breast and colon cancer, increases at this level.
• 7 standard drinks or more a week -- Your risk of heart disease or stroke increases significantly at this level.

Bonus:

Partially unrelated, but still a good example of why science is hard:

HUGO (Human Genome Organisation) Gene Nomenclature Committee (HGNC), the body that names genes, has changed 27 genes to avoid being confused by Excel's default naming protocols.

For example, SEPT2 is the short name of a gene called Septin 2....

-Scientists rename human genes to stop Microsoft Excel from misreading them as dates

Aug 2020, The Verge

https://www.theverge.com/2020/8/6/21355674/human-genes-rename-microsoft-excel-misreading-dates

Future Forecasting

The AI forecaster: Machine learning takes on weather prediction

Jan 2022, phys.org

https://phys.org/news/2022-01-ai-machine-weather.html

Standard models are still good for the 2-3 week range, but this new deep learning model is on par with them for the 4-6 week range. If anyone read that scene in Neal Stephenson's Terminal Shock where they were predicting an extreme weather event 3 weeks out with a secret Chinese supercomputer -- this is what he's imagining. 

via American Geophysical Union: Jonathan A. Weyn et al, Sub‐Seasonal Forecasting With a Large Ensemble of Deep‐Learning Weather Prediction Models, Journal of Advances in Modeling Earth Systems (2021). DOI: 10.1029/2021MS002502

http://dx.doi.org/10.1029/2021MS002502

Study finds US flood damage risk is underestimated

Feb 2022, phys.org

https://phys.org/news/2022-02-underestimated.html

Interesting example of how probability, statistics, and predictive analytics works -- 

The actual flood damage reports they used to "train" the models were publicly available reports from NOAA made between December 2006 and May of 2020. Compared with recent FEMA maps downloaded in 2020, 84.5% of the damage reports they evaluated were not within the agency's high-risk flood areas. The majority, at 68.3%, were located outside of the high-risk floodplain, while 16.2% were in locations unmapped by FEMA.

When they ran their computer models to determine flood damage risk, they found a high probability of flood damage for more than 1.01 million square miles across the United States, while the mapped area in FEMA's 100-year flood plain is about 221,000 square miles. Researchers said there are factors that could help explain why the differences were so large, including that their machine-learning-based model assessed damage from floods of any frequency, while FEMA only includes flooding that would occur from storms that have a 1% chance of happening in any given year [100 year storms].

-- Now remember, here in New Jersey for example, one of the fastest changing climate regions in the world, we had two 500-year storms in two years, one of them a flooding event, the other wind. I'm pretty sure the floods of September 2021 were a 100- if not 500-year storm. All in 10 years. 

Totally unrelated image credit: Fractal Forums, Christmas Ornament, 2019

Post Script, on Predictive Analytics:

Algorithm can predict possible Alzheimer's with nearly 100 percent accuracy

Sep 2021, phys.org

https://medicalxpress.com/news/2021-09-algorithm-alzheimer-percent-accuracy.html

via Kaunas University of Technology: Modupe Odusami et al, Analysis of Features of Alzheimer's Disease: Detection of Early Stage from Functional Brain Changes in Magnetic Resonance Images Using a Finetuned ResNet18 Network, Diagnostics (2021). DOI: 10.3390/diagnostics11061071

http://dx.doi.org/10.3390/diagnostics11061071