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Polygenic risk scores could help patients, including younger ones, understand whether they really need early treatment for heart disease.
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By Gina Kolata
Gina Kolata has been reporting on heart disease prevention for decades and visited patients and doctors at the University of Pennsylvania lipid clinic to report this article.
Katie Elkins has a family history of heart disease on both sides of the family, and she was worried. Her father had a heart attack this year on Easter morning at the age of 53 — the same age his mother was when she had one.
Ms. Elkins’s primary care doctor ordered a blood test, which revealed that her LDL cholesterol level was 160. That is high for someone at her age of 34. The doctor referred her to Dr. Daniel Rader, at the University of Pennsylvania, who specializes in preventive cardiology.
The question for Dr. Rader was: Should Ms. Elkins start taking a cholesterol-lowering statin? The guidelines say she is too young — the treatment is typically reserved for people at least age 40. But high cholesterol levels damage blood vessels slowly, over a period of decades. Was her risk high enough to intervene early?
To find out, Dr. Rader suggested Ms. Elkins take a new genetic test, known as a polygenic risk score. It looks at a collection of thousands of genetic variants. Each variant contributes little on its own to heart disease risk, but the variants together might point to those who are likely to have heart attacks.
Cardiologists hope to use such tests, which cost about $150 and are not typically covered by health insurance, to identify people most likely to have heart attacks long before they have them. Some doctors envision testing children as part of routine pediatric care.
“There’s a real unmet need to identify high-risk people very early in life,” said Dr. Nicholas Marston, a cardiologist at Brigham and Women’s Hospital in Boston. He has studied polygenic risk scores and has also been involved in trials for pharmaceutical companies that make cholesterol medicines. “We know the solution to preventing heart disease is getting your bad cholesterol as low as possible for as long as possible.”
Those at high risk would be treated aggressively. But the test may also spare some patients, including possibly Ms. Elkins, from unnecessary treatment if their risk turns out to be low.
Dr. Rader said Ms. Elkins’s LDL level could put her at risk for a heart attack — but probably not for at least a couple of decades. But a heart attack at any age is life-altering and can have severe effects, even with advances in medicine. So the question of how to protect young people whose risk may manifest years later is pressing.
(Dr. Rader, who has no financial interests in polygenic risk tests, is on the scientific advisory boards of Alnylam and Novartis, which have commercial interests in inclisiran, an LDL-lowering drug.)
Despite the high hopes for the new tests, there are many questions.
Some critics say that a focus on treating younger people is misplaced because they may not comply with taking a statin or another drug for the rest of their lives. It can be difficult for young people to focus on possible threats to their health decades in the future, and some of Dr. Rader’s patients have put off even getting polygenic risk tests after he recommends them.
The real need, these critics say, is with the huge group of older people who need cholesterol-lowering treatment but are not getting it, or who are abandoning their prescriptions. In one study, about 40 percent of people 65 and older who had a heart attack and need lipid-lowering medications for the rest of their lives stop taking statins within two years.
Others, like Dr. Rita F. Redberg, a cardiologist at the University of California, San Francisco, the editor at JAMA Internal Medicine and a critic of the overuse of statins, is concerned that polygenic risk scores could introduce new problems.
“There is a lot of downside to labeling people with a disease,” she said.
The label, she added, “inexorably leads to tests and a search for treatments.” And, she said, “because the person, who now has become a ‘patient,’ is asymptomatic, more tests and possible treatments in most cases will not make the person feel any better.”
People can go from thinking of themselves as healthy to thinking of themselves as someone with a disease. “Now, whenever they experience the common aches, pains and twinges of life, they wonder if it is because they have this ‘disease,’” Dr. Redberg said. “And they may then go to the doctor or even emergency room for things they would not have previously. And that also will lead to more tests and procedures, with their attendant risk of harms.”
Others, while enthusiastic about the prospects for polygenic risk scores, say that doctors need to know more about how effective early intervention might be.
Dr. Iftikhar Kullo of the Mayo Clinic in Rochester, Minn., asked, “Do you actually improve long-term outcomes” by using the tests and acting on them?
Suppose your young patient has a score indicating a heart attack is likely, perhaps a few decades or more later. If that patient starts taking a statin right away, as opposed to in midlife, will a heart attack be prevented?
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Dr. Sadiya Sana Khan of Northwestern University emphasized the need for more research. She has a new study showing that, in middle-aged to older adults, CT scans of the heart, which can show the buildup of plaque, are better than genetics in predicting risk. But that leaves a question about how to manage risk in young people, who almost never have visible plaque on a CT scan, even if they are at greater danger for a heart attack later in life.
“We need more studies that focus on younger people with follow-up over several decades,” she said. If risk scores in young adults predict a greater likelihood of a heart attack, she asked, will that prediction be borne out when the people are older, at ages when heart attacks are more likely? Or will those with high risk scores instead be needlessly worried about their hearts?
One hint comes from a recent study by Dr. Marston and his colleagues. They used data from hundreds of thousands of people in Britain and Japan whose genetic material and clinical outcomes are available to researchers.
By doing the genetic tests and looking at 10 years of data on the subjects’ health, he and his colleagues asked if those with high risk scores were in fact more likely to have a heart attack. They were — but only if the people were younger than 50. In older people, the cumulative effect of traditional risk factors — like smoking, LDL levels and diabetes — were so powerful that they dominated the risk picture.
Dr. Rader and his colleagues in preventive cardiology at Penn are proceeding with the assumption that the risk scores can help them make treatment decisions for patients when it is not clear whether or how aggressively to lower their LDL levels. These people typically are between the ages of 20 and 50 in whom traditional risk assessments are not helpful.
They also include patients who are reluctant to take statins any sooner than absolutely necessary.
Such was the situation for Sally Thompson, another patient of Dr. Rader.
Ms. Thompson, in her late 40s, has an LDL cholesterol level of 160 milligrams per deciliter, not high enough to make a statin imperative. But her doctor said it was advisable. She has no family history of heart disease. She said she would prefer to postpone starting a statin because she already is taking seven drugs for other chronic conditions.
She agreed to have the genetic test and take a statin, if it showed her risk is high. It was — in the 70th percentile — and she was persuaded.
Other preventive cardiology experts are not yet ready to use the tests to make most treatment decisions.
Dr. Marston, for example, so far is only ordering the test for young people who had a heart attack at an early age and are trying to understand why.
Even then, polygenic risk scores do not always provide answers.
Kori Green, 39, had severe chest pain last year and discovered that one of her coronary arteries was almost completely blocked. The news came as a complete surprise. “I am an avid skier and have a healthy diet,” she said. Neither of her parents have heart disease.
The genetic test Dr. Marston suggested did not solve the mystery of why her artery was blocked.
“What’s really unfortunate is we still don’t know how this happened,” Ms. Green said.
But polygenic risk scores are not going away. At Geisinger, a medical care system in Pennsylvania, researchers are mapping out strategies for introducing them, including clinical trial planning.
“I predict it will be part of routine care,” Dr. Christa Martin, Geisinger’s chief scientific officer, said. “We will treat it no differently than cholesterol screening or screening for diabetes.”
Gina Kolata writes about science and medicine. She has twice been a Pulitzer Prize finalist and is the author of six books, including “Mercies in Disguise: A Story of Hope, a Family's Genetic Destiny, and The Science That Saved Them.” @ginakolata • Facebook
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FAQs
To Prevent Heart Attacks, Doctors Try a New Genetic Test? ›
A new genetic test called polygenic risk score could help some patients reduce their risk of heart attack at a young age, The New York Times reported May 30. Polygenic risk score looks at thousands of genetic variations that could point to who is likely to have a heart attack.
Is there a new test for heart disease risk? ›To find out, Dr. Rader suggested Ms. Elkins take a new genetic test, known as a polygenic risk score. It looks at a collection of thousands of genetic variants. Each variant contributes little on its own to heart disease risk, but the variants together might point to those who are likely to have heart attacks.
What is the best test to prevent a heart attack? ›Cholesterol test. A cholesterol test, also called a lipid panel or lipid profile, measures the fats in the blood. The measurements can help determine the risk of having a heart attack or other heart disease.
What is a genetic test for heart conditions? ›Genetic testing can be used to find out whether you have a specific altered gene or a genetic fault which can lead to an inherited heart condition (IHC). A genetic test often involves a blood test, but it can also be carried out on a sample of hair, skin or tissue.
Why would cardiologist order genetic testing? ›The cardiologist may recommend specific heart tests or an appointment with a genetic counselor to discuss your family's heart health. If they think your heart test results and family history are suspicious of an inherited heart condition, they may recommend genetic testing.
What are 3 tests that help recognize heart disease? ›- Blood tests. ...
- Electrocardiogram (ECG) ...
- Exercise stress test. ...
- Echocardiogram (ultrasound) ...
- Nuclear cardiac stress test. ...
- Coronary angiogram. ...
- Magnetic resonance imaging (MRI) ...
- Coronary computed tomography angiogram (CCTA)
B-type natriuretic peptide (BNP)
A BNP test is a valuable tool for diagnosing heart failure. It measures the amount of BNP in the blood, indicating how well the heart functions. If a test reveals a rise in BNP, this can be an early warning sign of heart failure, and doctors will want to investigate further.
Like the more familiar tests used to assess your risk of future heart problems—cholesterol, blood pressure and blood sugar tests, for example—coronary artery calcium (CAC) testing helps reveal your risk of heart disease, often before other warning signs appear.
What are the two tests to prevent heart attack? ›A chest X-ray shows the condition and size of the heart and lungs. Echocardiogram. Sound waves (ultrasound) create images of the moving heart. This test can show how blood moves through the heart and heart valves.
What test shows a silent heart attack? ›Imaging tests, such as an electrocardiogram or echocardiogram, are the only way to identify a silent heart attack. If you think that you've had a silent heart attack, talk to your health care provider. A review of your symptoms and health history and a physical exam can help your provider decide if you need more tests.
How much does a cardiac genetic test cost? ›
You could be responsible for the entire cost of the test. The average is $9,000 to $11,000.
What is the most common genetic heart defect? ›Hypertrophic Cardiomyopathy: The Most Common Genetic Heart Disease.
How long does cardiac genetic testing take? ›It can take a few weeks to a few months to get results depending on the genetic test ordered. There are three potential test results for the initial person being tested: positive, negative, and inconclusive.
Is heart disease inherited from mother or father? ›Heart disease isn't directly inherited from either parent. It's caused by a combination of changes that occur to many genes, as well as lifestyle factors. This means you can inherit only an increased risk of heart disease, not heart disease itself.
Are most heart problems genetic? ›In addition, having close blood relatives with heart disease can make you more likely to get heart disease. Finding and treating familial hypercholesterolemia (FH) early reduces coronary heart disease risk by about 80%.
Why would a doctor suggest genetic testing? ›If you have symptoms of a disease that may be caused by genetic changes, sometimes called mutated genes, genetic testing can reveal if you have the suspected disorder. For example, genetic testing may be used to confirm a diagnosis of cystic fibrosis or Huntington's disease.
What is the most accurate test for heart problems? ›A coronary angiogram is a type of X-ray used to examine the coronary arteries supplying blood to your heart muscle. It's considered to be the best method of diagnosing coronary artery disease - conditions that affect the arteries surrounding the heart.
What are the signs of an unhealthy heart? ›- Chest pain. Poor blood flow to the heart can cause pain or discomfort in the chest, a condition called angina. ...
- Fatigue. ...
- Heart palpitations. ...
- Pain, numbness, weakness or coldness in the arms or legs. ...
- Shortness of breath. ...
- Swelling in your legs, ankles or feet.
- Chest pain (angina). You may feel pressure or tightness in your chest. ...
- Shortness of breath. You may feel like you can't catch your breath.
- Fatigue. If the heart can't pump enough blood to meet your body's needs, you may feel unusually tired.
- Heart attack.
Tests you may have to diagnose heart failure include: blood tests – to check whether there's anything in your blood that might indicate heart failure or another illness. an electrocardiogram (ECG) – this records the electrical activity of your heart to check for problems.
Can bloodwork show congestive heart failure? ›
The B-type natriuretic peptide blood test, also known as the brain natriuretic peptide (BNP) test, is used for detecting congestive heart failure. This test is used to assess how hard the heart is working to keep the blood pumping through the body and to determine if the heart is pumping the blood well enough.
What is the blood marker for heart failure? ›Your doctor may recommend a blood test to check for B-type natriuretic peptide, a protein that the heart secretes to keep blood pressure stable. These levels increase with heart failure. A blood test may also be performed to look for substances that are associated with heart and lung damage.
What dissolves plaque in arteries? ›You can “unclog” your arteries with natural methods, including diet, exercise, and stress management. Quitting smoking, if you smoke, can also help reverse plaque.
How do you clear blocked arteries without surgery? ›Through angioplasty, our cardiologists are able to treat patients with blocked or clogged coronary arteries quickly without surgery. During the procedure, a cardiologist threads a balloon-tipped catheter to the site of the narrowed or blocked artery and then inflates the balloon to open the vessel.
Can heart failure reversed? ›Although heart failure is a serious condition that progressively gets worse over time, certain cases can be reversed with treatment. Even when the heart muscle is impaired, there are a number of treatments that can relieve symptoms and stop or slow the gradual worsening of the condition.
Can Apple Watch detect heart attack? ›Apple Watch cannot detect heart attacks. If you ever experience chest pain, pressure, tightness, or what you think is a heart attack, call emergency services immediately. The irregular rhythm notification feature on Apple Watch is not constantly looking for AFib.
Can you reverse calcium buildup in arteries? ›A. If you have the gumption to make major changes to your lifestyle, you can, indeed, reverse coronary artery disease. This disease is the accumulation of cholesterol-laden plaque inside the arteries nourishing your heart, a process known as atherosclerosis.
What is usually the first symptom of a heart attack? ›Chest pain or discomfort.
Most heart attacks involve discomfort in the center or left side of the chest that lasts for more than a few minutes or that goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain.
A heart attack is a medical emergency in which the blood supply to the heart is suddenly blocked. Warning signs that occur a month beforehand could be chest discomfort, fatigue, and shortness of breath.
What are 3 warning signs of a heart attack in females? ›- Uncomfortable pressure, squeezing, fullness or pain in the center of your chest. ...
- Pain or discomfort in one or both arms, the back, neck, jaw or stomach.
- Shortness of breath with or without chest discomfort.
- Other signs such as breaking out in a cold sweat, nausea or lightheadedness.
Is it worth getting genetic testing? ›
Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer. There are many different kinds of genetic tests.
What are the cons of genetic testing? ›- Testing may increase your stress and anxiety.
- Results in some cases may return inconclusive or uncertain.
- Negative impact on family and personal relationships.
- You might not be eligible if you do not fit certain criteria required for testing.
Cardiovascular genetic testing (CVD) is a lab procedure that may be performed in the course of cardiology and vascular care to determine your personal risk of cardiovascular disease. Your risk factor is based on the genes that you have inherited or carry.
Do heart attacks run in families? ›If you have a family health history of heart disease, you are more likely to develop heart disease yourself. Different types of heart disease and related conditions, like high blood pressure and high blood cholesterol, can run in families.
What is the most fatal heart defect? ›Hypoplastic left heart syndrome is the most involved and complex of all congenital heart diseases. "It is among the most severe but treatable congenital heart defects," says Dr. Lashus.
What is the most serious heart defect? ›Critical congenital heart defects (also called critical CHDs or critical congenital heart disease) are the most serious congenital heart defects. Babies with critical CHDs need surgery or other treatment within the first year of life. Without treatment, critical CHDs can cause serious health problems and death.
What is the success rate of genetic testing? ›The results showed a significantly lower rate of pregnancies in the women who underwent genetic screening, however. Only 25% achieved ongoing pregnancies, compared with 37% of women who were not screened (rate ratio 0.69, 95% confidence interval 0.51 to 0.93).
Is genetic testing painful? ›Genetic testing is done by getting blood sample from your child. The needle prick needed to obtain the blood sample is fairly painful and should be explained to your child before hand so that he will cooperate during the actual extraction.
Are clogged arteries hereditary? ›As plaque builds up, it increases the risk of blood clots, heart attack, and stroke. Research has shown that the risk of developing atherosclerosis can be influenced by heredity.
At what age do most heart attacks occur? ›Age. The majority of heart attack deaths occur in patients ages 65 and older, but a man's risk begins to increase at 45 (for women, it starts at 55).
What age do heart attacks occur? ›
Age. Men age 45 and older and women age 55 and older are more likely to have a heart attack than are younger men and women.
What foods improve heart health? ›- Fish high in omega-3 fatty acids (salmon, tuna, and trout)
- Lean meats such as 95% lean ground beef or pork tenderloin or skinless chicken or turkey.
- Eggs.
- Nuts, seeds, and soy products (tofu)
- Legumes such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans.
Many cardiac disorders can be inherited, including arrhythmias, congenital heart disease, cardiomyopathy, and high blood cholesterol. Coronary artery disease leading to heart attack, stroke, and heart failure can run in families, indicating inherited genetic risk factors.
Who suffers most from heart disease? ›Heart disease is the leading cause of death for people of most racial and ethnic groups in the United States, including African American, American Indian, Alaska Native, Hispanic, and white men.
Who is most likely to develop heart disease? ›age – CVD is most common in people over 50 and your risk of developing it increases as you get older. gender – men are more likely to develop CVD at an earlier age than women. diet – an unhealthy diet can lead to high cholesterol and high blood pressure.
What are 3 types of genetic tests? ›Three major types of genetic testing are available in laboratories: cytogenetic (to examine whole chromosomes), biochemical (to measure protein produced by genes), and molecular (to look for small DNA mutations). (See Chapter 2 and Appendix I for more information.)
What if my genetic test results are positive? ›A positive result means that testing has identified a gene change or genetic mutation in one or more of the genes analyzed. This type of result may be called a pathogenic or disease-causing variant. A positive result typically means that you're at higher risk of developing a hereditary condition.
What is the most accurate test for heart disease? ›A coronary angiogram is a type of X-ray used to examine the coronary arteries supplying blood to your heart muscle. It's considered to be the best method of diagnosing coronary artery disease - conditions that affect the arteries surrounding the heart.
What are the 3 cardiac markers? ›- Cardiac troponin. This protein is by far the most commonly used biomarker. ...
- Creatinine kinase (CK). This enzyme can also be measured several times over a 24-hour period. ...
- CK-MB. This is a subtype of CK. ...
- Myoglobin. This is a small protein that stores oxygen.
A CT coronary angiogram can reveal plaque buildup and identify blockages in the arteries, which can lead to a heart attack. Prior to the test, a contrast dye is injected into the arm to make the arteries more visible. The test typically takes 30 minutes to complete.
Is the Puls cardiac test accurate? ›
The PULS Cardiac Test is highly accurate in recognizing at-risk patients who are typically overlooked by other testing methods, such as plaque and cholesterol testing. This test can be used for both predictive and diagnostic purposes to widen the scope of patients identified with respect to acute coronary syndrome.
What is the most useful test to rule out heart failure? ›Your doctor will check for these and other signs of heart failure. A test called an echocardiogram is often the best test to diagnose your heart failure. Your doctor can also use this test to find out why you have heart failure, and then monitor your condition going forward every three to six months.
Can anxiety raise heart enzymes? ›Stress-induced cardiomyopathy is usually associated with an increased level of cardiac enzymes, leading to difficulties in differentiating this condition from acute coronary syndrome.
What are the 2 most sensitive cardiac biomarker tests? ›cTnI and cTnT are the two isoforms expressed in the cardiac muscle only (cTnC is also expressed in the skeletal muscle), and they have been verified to be specific and sensitive biomarkers of myocardial damage [16–18], which is particularly important in asymptomatic patients, when combined with other biomarkers and ...
What is the gold standard for the cardiac markers? ›Troponins are today the gold standard for detecting myocardial cell necrosis and therefore must be measured.
What drink can clean your arteries? ›Ginger, garlic and lemon detox drink – Boil ginger and garlic and strain. Squeeze the juice of one full lemon into it. This is strong detox drink to get rid of bad cholesterol and also flush out all toxins from the arteries.
What vitamin removes plaque from arteries? ›Optimal Vitamin K2 intake is crucial to avoid the calcium plaque buildup of atherosclerosis, thus keeping the risk and rate of calcification as low as possible.
Does oatmeal remove plaque arteries? ›Oats. Oats are an excellent choice for those who have atherosclerosis or are trying to prevent clogged arteries. Eating oats can help significantly reduce atherosclerosis risk factors, including high levels of total and LDL (bad) cholesterol ( 39 ).
What is Puls score? ›The PULS Cardiac Test is a blood test that identifies people who are seemingly healthy, but who have a high risk of Heart Disease. The test detects the early stages of Heart Disease by detecting the initial arterial or endothelial damage leading to unstable cardiac lesion rupture – the #1 cause of Heart Attacks.