🌟 Da Doktahs Trying New Gene Test fo’ Heart Attacks 🧪💔

Polygenic risk scores can help patients, even da young ones, know if dey need early treatment fo’ heart disease. 🌟

Katie Elkins get heart disease on both sides of her family, an’ she stay worried. Her faddah had one heart attack dis year on Easter morning when he was only 53 — da same age his muddah wen’ have one. 💔😢

Ms. Elkins’s primary care doktah wen’ order one blood test an’ find out her LDL cholesterol stay at 160. Dass high fo’ someone her age, only 34. Da doktah den refer her to Dr. Daniel Rader, at da University of Pennsylvania, one specialist in preventive cardiology. 👨‍⚕️🩺

Da question fo’ Dr. Rader stay dis: Should Ms. Elkins start taking one cholesterol-lowering statin? Da guidelines say she still too young — dey usually only give ’em to people 40 an’ up. But high cholesterol, stay damage da blood vessels slow ova da years. Da question stay if her risk stay high ’nuff fo’ start da treatment early. 🤔

Fo’ find out, Dr. Rader tell Ms. Elkins fo’ take one new gene test called polygenic risk score. It look at all da genes an’ see if dey get small contributions to da risk fo’ heart attacks. One gene by itself no mean much, but if da genes come togethah, dey might tell us who mo’ likely fo’ have heart attacks. 🧬🔬

Da cardiologists like dis test cuz dey hope it goin’ help ’em find people who get high risk fo’ heart attacks befo’ dey actually happen. Dey like fo’ test kids too, as part of da normal care fo’ children. 👶👦👧

Dr. Nicholas Marston, one cardiologist at Brigham an’ Women’s Hospital in Boston, say dis: “We need fo’ identify da high-risk people wen’ dey young, long befo’ dey even feel sick.” He wen’ study da polygenic risk scores an’ help with da trials fo’ da companies making cholesterol medicines. He say: “Da best way fo’ prevent heart disease stay fo’ get da bad cholesterol as low as possible, as long as possible.” 💪❤️

Da ones with high risk goin’ get aggressive treatment. But da test can also help da ones with low risk, like Ms. Elkins, so dey no gotta take unnecessary treatment. 🏥⚕️

Dr. Rader say Ms. Elkins’s LDL level goin’ put her at risk fo’ heart attack, but prob’ly not fo’ anodda couple decades. But heart attacks, even at any age, can change people life an’ get bad effects, even wit’ all da medicine advances. So da question stay: How we goin’ protect da young people who get high risk, but da risk no show up ’til later? 🙏💔😔

(Dr. Rader no get any financial interest in da polygenic risk tests, but he do serve on da scientific advisory boards fo’ Alnylam an’ Novartis, companies dat get commercial interests in inclisiran, one drug dat lower LDL.) 💼💉

Even tho’ dey get high hopes fo’ dis new tests, some people still get questions. ❓❔

Some people say we stay lookin’ too much at da young people, but dey no always stick wit’ takin’ da medicine fo’ da rest of their life. Da young people, dey no like worry ’bout dey health 20, 30 years from now. Some people even put off takin’ da polygenic risk test aftah Dr. Rader tell ’em fo’ take ’em. 🙅‍♂️🤷‍♀️

Da real need, dey say, stay wit’ da older folks who get high cholesterol but no get da medicine, o’ who stop takin’ da medicine. One study show dat ’bout 40 percent of da people 65 an’ up who wen’ have one heart attack an’ supposed to take da medicine fo’ da rest of dey life, dey wen’ stop takin’ da statins aftah only two years. 👴👵💊

Some people, like Dr. Rita F. Redberg, one cardiologist at da University of California, San Francisco, wen’ edit da JAMA Internal Medicine, an’ one critic of usin’ da statins too much, stay worried ’bout da polygenic risk scores too. 😟

She say: “Dere’s plenny downside if we label people wit’ da disease.” 🏷️❌

Da label, she say, “gon’ lead to more tests an’ lookin’ fo’ treatments.” She say da people, once dey get da “patient” label, dey no get da symptoms, so da tests an’ treatments no goin’ make ’em feel any bettah. 😔

Da people wen’ tink dey healthy, now dey tink dey get one disease. “Now, anytime dey get one small pain o’ twinge, dey go won’ know if da ‘disease’ causin’ ’em.” Dr. Redberg say. “Dey go start go da doktah o’ emergency room fo’ any small thing dey nevah go befo’. An’ dat mean more tests an’ procedures, dat get da risk fo’ cause harm.” ❌⚠️

Da oddah people, even tho’ dey like da idea of da polygenic risk scores, dey say da doktahs need fo’ know if early treatment really goin’ help. ❓✅

Dr. Iftikhar Kullo from Mayo Clinic in Rochester, Minn., ask dis: “If we use da test an’ start da statin fo’ da young patient, can we make da heart attack less likely, even if it happen 30 o’ 40 years later?” 🤔❤️

Dr. Sadiya Sana Khan from Northwestern University say we need fo’ do mo’ research. She wen’ do one study showin’ dat fo’ middle-aged an’ older adults, da CT scans fo’ da heart, dat show da buildup of plaque, do bettah job at predictin’ da risk den genetics. But dat still leave one question: How we goin’ manage da risk fo’ da young people? Dey no get da visible plaque on da CT scan, even if dey get higher risk fo’ heart attack when dey older. 🧐📚

“We need mo’ studies fo’ focus on da young people an’ den follow ’em up fo’ several decades,” she say. If da risk scores wen’ show high risk fo’ da young adults, da question stay if da heart attack really goin’ happen when dey older, when da risk stay highah. O’ if da people wit’ high risk scores no need fo’ worry ’bout dey hearts. 📈❤️

One study by Dr. Marston an’ his colleagues can give one hint. Dey wen’ use da data from hundreds of thousands of people in Britain an’ Japan, get da genetic info an’ look at da health outcomes. 👥🔍

Dey wen’ look at da genetic tests an’ check if da people wit’ high risk scores wen’ have da heart attack. An’ dey did — but on’y if da people stay younger than 50. Da people who stay older, da traditional risk factors like smokin’, high LDL, an’ diabetes stay mo’ powerful an’ take ovah da risk picture. 📊📉

Dr. Rader an’ da preventive cardiology team at da University of Pennsylvania stay thinkin’ dat da risk scores can help ’em make bettah decisions fo’ treatment when da traditional risk assessments no useful. Dey usually use ’em fo’ people between 20 an’ 50 who need da treatment but no like take da statins too soon. 👨‍⚕️💉

Dey also use ’em fo’ da people who no like take statins if dey no need ’em yet. 💊🚫

Like Sally Thompson, anodda patient of Dr. Rader. 👩

Ms. Thompson, she in her late 40s, her LDL cholesterol level stay at 160 milligrams per deciliter, not high ’nuff fo’ make statins necessary. But her doktah say it bettah fo’ her. She no get family history of heart disease. She say she like fo’ wait fo’ take da statin ’cause she already take seven oddah medicines fo’ otha conditions.

But she say okay fo’ take da genetic test. An’ if da test show her risk high, she goin’ take da statin. An’ da test show her risk stay in da 70th percentile. So she wen’ agree. ✅💪💉

Da oddah preventive cardiology experts, dey no ready yet fo’ use da tests fo’ make most decisions on treatment.

Dr. Marston, fo’ example, right now he on’y order da test fo’ da young people who wen’ get one heart attack at one young age an’ tryin’ figure out why. 👨‍⚕️🔬

An’ sometimes, da polygenic risk scores no give any answers.

Kori Green, she 39 years old, wen’ get one strong chest pain last year an’ find out dat one of her arteries wen’ get one big blockage. She stay all surprised. “I stay one big skier an’ I eat healthy,” she say. Her parents no get heart disease too.

Dr. Marston wen’ tell her fo’ take da genetic test, but dat no give any answer fo’ why her artery stay blocked.

“What really make me sad is we still no know why dis happen,” Ms. Green say. 😢❓

But da polygenic risk scores no goin’ go away. At Geisinger, da medical care system in Pennsylvania, da researchers stay plannin’ how fo’ introduce ’em, like how dey introduce cholesterol screening o’ screenin’ fo’ diabetes.

“I predict dis goin’ be part of da normal care,” Dr. Christa Martin, Geisinger’s chief scientific officer, say. “We goin’ treat ’em like we treat da cholesterol screening o’ screenin’ fo’ diabetes.” 🏥🌟

Overall, da use of polygenic risk scores in assessin’ da risk fo’ heart attacks is still bein’ researched, an’ doktahs are tryin’ to determine da best ways to incorporate dis information into treatment decisions. While da scores can provide valuable insights, it’s important to consider otha risk factors an’ conduct furthah research to understand da long-term impact. 👩‍⚕️📚

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NOW IN ENGLISH

🌟 The Doctors Trying New Gene Test for Heart Attacks 🧪💔

Polygenic risk scores can help patients, even the young ones, know if they need early treatment for heart disease. 🌟

Katie Elkins has heart disease on both sides of her family, and she’s worried. Her father had a heart attack this year on Easter morning when he was only 53 — the same age his mother had one. 💔😢

Ms. Elkins’s primary care doctor ordered a blood test and found out her LDL cholesterol is at 160. That’s high for someone her age, only 34. The doctor then referred her to Dr. Daniel Rader, at the University of Pennsylvania, a specialist in preventive cardiology. 👨‍⚕️🩺

The question for Dr. Rader is this: Should Ms. Elkins start taking a cholesterol-lowering statin? The guidelines say she’s still too young — they usually only give them to people 40 and up. But high cholesterol damages the blood vessels slowly over the years. The question is if her risk is high enough to start the treatment early. 🤔

To find out, Dr. Rader told Ms. Elkins to take a new gene test called polygenic risk score. It looks at all the genes and sees if they have small contributions to the risk for heart attacks. One gene by itself doesn’t mean much, but if the genes come together, they might tell us who is more likely to have heart attacks. 🧬🔬

The cardiologists like this test because they hope it will help them find people who have a high risk for heart attacks before they actually happen. They also like to test kids as part of the normal care for children. 👶👦👧

Dr. Nicholas Marston, a cardiologist at Brigham and Women’s Hospital in Boston, says this: “We need to identify the high-risk people when they’re young, long before they even feel sick.” He studied the polygenic risk scores and helped with the trials for the companies making cholesterol medicines. He says, “The best way to prevent heart disease is to get the bad cholesterol as low as possible, as long as possible.” 💪❤️

Those with high risk will get aggressive treatment. But the test can also help those with low risk, like Ms. Elkins, so they don’t have to take unnecessary treatment. 🏥⚕️

Dr. Rader says Ms. Elkins’s LDL level puts her at risk for a heart attack, but probably not for another couple decades. But heart attacks, even at any age, can change people’s lives and have bad effects, even with all the medical advances. So the question is: How are we going to protect the young people who have a high risk, but the risk doesn’t show up until later? 🙏💔😔

(Dr. Rader doesn’t have any financial interest in the polygenic risk tests, but he does serve on the scientific advisory boards for Alnylam and Novartis, companies that have commercial interests in inclisiran, a drug that lowers LDL.) 💼💉

Even though they have high hopes for these new tests, some people still have questions. ❓❔

Some people say we’re focusing too much on the young people, but they don’t always stick with taking the medicine for the rest of their lives. The young people don’t like to worry about their health 20, 30 years from now. Some people even put off taking the polygenic risk test after Dr. Rader tells them to take them. 🙅‍♂️🤷‍♀️

The real need, they say, is with the older folks who have high cholesterol but don’t take the medicine, or who stop taking the medicine. One study shows that about 40 percent of the people 65 and up who had a heart attack and were supposed to take the medicine for the rest of their life, they stopped taking the statins after only two years. 👴👵💊

Some people, like Dr. Rita F. Redberg, a cardiologist at the University of California, San Francisco, who edited the JAMA Internal Medicine, and a critic of using the statins too much, are worried about the polygenic risk scores too. 😟

She says: “There’s plenty of downside if we label people with the disease.” 🏷️❌

The label, she says, “is going to lead to more tests and looking for treatments.” She says the people, once they get the “patient” label, don’t have the symptoms, so the tests and treatments won’t make them feel any better. 😔

The people used to think they were healthy, but now they think they have a disease. “Now, anytime they have a small pain or twinge, they won’t know if the ‘disease’ is causing them.” Dr. Redberg says. “They’ll start going to the doctor or emergency room for any small thing they never did before. And that means more tests and procedures, that have the risk to cause harm.” ❌⚠️

The other people, even though they like the idea of the polygenic risk scores, say the doctors need to know if early treatment really going to help. ❓✅

Dr. Iftikhar Kullo from Mayo Clinic in Rochester, Minn., asks this: “If we use the test and start the statin for the young patient, can we make the heart attack less likely, even if it happens 30 or 40 years later?” 🤔❤️

Dr. Sadiya Sana Khan from Northwestern University says we need to do more research. She did a study showing that for middle-aged and older adults, the CT scans for the heart, that show the buildup of plaque, do a better job at predicting the risk than genetics. But that still leaves a question: How are we going to manage the risk for the young people? They don’t have the visible plaque on the CT scan, even if they have a higher risk for a heart attack when they’re older. 🧐📚

“We need more studies to focus on the young people and then follow them up for several decades,” she says. If the risk scores show high risk for the young adults, the question is if the heart attack is really going to happen when they’re older, when the risk is higher. Or if the people with high risk scores don’t need to worry about their hearts. 📈❤️

One study by Dr. Marston and his colleagues can give a hint. They used the data from hundreds of thousands of people in Britain and Japan, got the genetic info, and looked at the health outcomes. 👥🔍

They looked at the genetic tests and checked if the people with high risk scores had the heart attack. And they did — but only if the people were younger than 50. The people who were older, the traditional risk factors like smoking, high LDL, and diabetes were more powerful and took over the risk picture. 📊📉

Dr. Rader and the preventive cardiology team at the University of Pennsylvania are thinking that the risk scores can help them make better decisions for treatment when the traditional risk assessments aren’t useful. They usually use them for people between 20 and 50 who need the treatment but don’t like to take the statins too soon. 👨‍⚕️💉

They also use them for the people who don’t like to take statins if they don’t need them yet. 💊🚫

Like Sally Thompson, another patient of Dr. Rader. 👩

Ms. Thompson, she’s in her late 40s, her LDL cholesterol level is at 160 milligrams per deciliter, not high enough to make statins necessary. But her doctor says it’s better for her. She doesn’t have a family history of heart disease. She says she likes to wait to take the statin because she already takes seven other medicines for other conditions.

But she says okay to take the genetic test. And if the test shows her risk is high, she’s going to take the statin. And the test shows her risk is in the 70th percentile. So she went agree. ✅💪💉

The other preventive cardiology experts aren’t ready yet to use the tests to make most decisions on treatment.

Dr. Marston, for example, right now he only orders the test for the young people who had a heart attack at a young age and trying to figure out why. 👨‍⚕️🔬

And sometimes, the polygenic risk scores don’t give any answers.

Kori Green, she’s 39 years old, had a strong chest pain last year and found out that one of her arteries had a big blockage. She’s all surprised. “I’m a big skier and I eat healthy,” she says. Her parents don’t have heart disease either.

Dr. Marston told her to take the genetic test, but that didn’t give any answer for why her artery stayed blocked.

“What really makes me sad is we still don’t know why this happened,” Ms. Green says. 😢❓

But the polygenic risk scores aren’t going to go away. At Geisinger, the medical care system in Pennsylvania, the researchers are planning how to introduce them, like how they introduced cholesterol screening or screening for diabetes.

“I predict this is going to be part of the normal care,” Dr. Christa Martin, Geisinger’s chief scientific officer, says. “We’re going to treat them like we treat the cholesterol screening or screening for diabetes.” 🏥🌟

Overall, the use of polygenic risk scores in assessing the risk for heart attacks is still being researched, and doctors are trying to determine the best ways to incorporate this information into treatment decisions. While the scores can provide valuable insights, it’s important to consider other risk factors and conduct further research to understand the long-term impact. 👩‍⚕️📚