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The future of medical genetics

Nearly three decades ago, I created a course for first year medical students called “Molecular Biology and Genetics.” Together with a clinical faculty, I co-directed the course for 22 years.   There’s a piece over at Medpage about “niche careers” in medicine. Here’s one: “ 7. Medical Genetics and Genomics Medical geneticists diagnose and manage hereditary conditions, using genomic data to guide treatment and counsel patients on inherited disease risk. As whole-genome sequencing becomes cheaper and more accessible, the specialty is moving from rare disease management to mainstream medicine. Within a generation, a medical geneticist's input may be standard in the workup of cancer, cardiovascular disease, and beyond.” Before I retired, I had a couple of discussions with physicians about whether medical genetics as a distinct field will cease to exist because genomics will make pedigrees and statistical genetics obsolete. I thought it would and I feel vindicated by current events. “Gen...
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Happy July 4th!

“I don’t know a soul who’s not been battered I don’t have a friend who feels at ease I don’t know a dream that’s not been shattered Or driven to its knees Oh, but it’s all right, it’s all right For lived so well so long Still, when I think of the road We’re traveling on I wonder what went wrong I can’t help it, I wonder what’s gone wrong” https://www.youtube.com/watch?v=1wu2teJTHMk
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Quote of the day

We've watched this pattern repeat itself for decades. Gay organizations distanced themselves from drag queens because they were considered too embarrassing for the movement. White-led organizations sidelined Black queer activists whose struggles complicated a cleaner public narrative. Transgender people were told, explicitly and implicitly, that their visibility threatened everyone else's acceptance and that their liberation could wait until a more politically convenient moment. The names and targets change, but the promise never does. If we simply push those deemed the least respectable to the edge of the movement, perhaps the rest of us will finally be allowed to belong. History has never been especially kind to that strategy, because respectability politics offers a promise it cannot keep. It imagines acceptance as something earned through conformity, when conformity only invites an ever narrower definition of what is considered acceptable.   ~Josh Ackley
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More activity, less cancer

“ Prolonged, uninterrupted sedentary behavior was associated with a significantly increased likelihood of dying of cancer, a study of more than 90,000 people showed.   “Every additional hour of prolonged sedentary behavior per day was linked with a 10% higher hazard of cancer mortality. Replacing an hour of sedentary behavior daily with light physical activity or with 30 minutes of moderate physical activity was associated with reduced cancer mortality risk -- which was 22% lower with an additional 5 minutes of vigorous physical activity.” How did they measure physical activity? "The main strength is the use of a reliable instrument [ accelerometer ] to measure people's sedentary and active behavior," Richardson said in a statement on the Science Media Centre. "Studies such as these often use self-reported activity, which is an unreliable way of measuring behavior.” Move your body, peeps. https://www.medpagetoday.com/primarycare/exercisefitness/122041?xid=nl_mpt_DHE_...
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Great news for coffee drinkers

I started drinking coffee in high school. Over time, the amount increased, so that by about 15 years ago, I was drinking three pots of coffee a day. It was then that I started experiencing acid reflux. Upon learning that acid reflux is a risk factor for esophageal cancer, I quit cold turkey. Within a week, I found myself sleeping more soundly and waking up completely refreshed. Since then, I’ve never used an alarm clock. After a few months, I started drinking a mug of coffee with breakfast and another mug of coffee with lunch. No coffee after lunch. That’s how its been ever since. I’m glad I was able to resume the coffee habit after reading about a recent study from U.K. Biobank: “ Coffee drinking was associated with lower risks of serious liver disease and related mortality, with the more one consumes the better, data from the U.K. Biobank suggested.   “Over a median 13-year follow-up, drinking five or more cups of coffee per day was tied to reduced risks of cirrhosis (HR 0.68, 95...
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Latest TACO?

Trump refused to sign a housing bill passed by bipartisan veto-proof majorities. But if he refuses to sign it and refuses to veto it, it becomes law. “Speaker Mike Johnson says the   landmark housing affordability package Congress passed earlier this month will become law — and that Republicans won’t have to take an uncomfortable vote to override a presidential veto to make that happen.     “In an interview Monday night, Johnson said President Donald Trump is still “deciding” whether he’ll sign the bipartisan housing bill or just let it go into effect within 10 days of receiving the legislation while Congress is in session. ““There won’t be a veto,” he said. “He’s just trying to decide whether he’s signing it or not. “Shortly thereafter, Johnson reiterated he believed the bill will become law “Trump is withholding his signature to extort Congress over. Trump’s voter-suppression legislation. OK, but if he does nothing at all, it [will] become law.” Not exactly a cliff-hang...
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At Ford, AI wasn’t ready for prime time

  Ford increasingly relied on AI-driven inspection systems to streamline production and address quality control issues. How’d that work out? “ Ford   has admitted to rehiring hundreds of human workers after its aggressive   AI   adoption strategy backfired.   “The US automaker hired over 350 veteran engineers, referred to internally as “gray beards”, over the past three years in order to address mistakes made by automated systems.   “The staff will lead quality reviews after the automation issues cost the company billions of dollars,   Bloomberg   reported, while some workers will also help improve and train the AI systems.” And how is *that* working out? “After rehiring experienced engineers, Ford experienced a marked improvement in its quality standards. “According to the latest J.D. Power Initial Quality Survey, an annual automotive benchmark that measures the quality of new vehicles, Ford ranked top among mainstream brands – the first time it ...
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