Researchers say a new way of analysing genetic test data may one day help identify people at high risk of a youthful heart attack in time to help.
Today, gene testing mostly focuses on rare mutations in one or a few genes, like those that cause cystic fibrosis or sickle cell disease, or the BRCA gene responsible for a small fraction of breast cancer. It is less useful for some of the most common diseases, such as heart disease or diabetes, because they are influenced by vast numbers of genes-gone-wrong working together in complicated ways.
On Monday, researchers reported a new way to measure millions of small genetic variations that add up to cause harm, letting them calculate someone’s inherited risk for the most common form of heart disease and four other serious disorders. The potential cardiac impact: they estimated that up to 25 million Americans may have triple the average person’s risk for coronary artery disease even if they haven’t yet developed warning signs like high cholesterol.
“What I foresee is in five years, each person will know this risk number, this 'polygenic risk score', similar to the way each person knows his or her cholesterol,” said Dr Sekar Kathiresan who led the research team from the Broad Institute, Massachusetts General Hospital and Harvard Medical School.
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If the approach pans out and doctors adopt it, a bad score wouldn't mean you'd get a disease, just that your genetic makeup increases the chance — one more piece of information in deciding care. For example, when the researchers tested the system using a DNA database from Britain, less than 1 per cent of people with the lowest risk scores were diagnosed with coronary artery disease, compared to 11 per cent of people with the highest risk score.
“There are things you can do to lower the risk,” Dr Kathiresan said — the usual advice about diet, exercise, cholesterol medication and not smoking helps.
On the flip side, a low-risk score “doesn’t give you a free pass,” he added. An unhealthy lifestyle could overwhelm the protection of good genes.
The scoring system also can predict an increased risk of Type 2 diabetes, inflammatory bowel disease, breast cancer and an irregular heartbeat called atrial fibrillation, the team reported in the journal Nature Genetics — noting that next steps include learning what might likewise lower those risks.
It doesn’t require the most sophisticated type of genetic testing. Instead, Dr Kathiresan can calculate risk scores for those five diseases — eventually maybe more — simply by reanalysing the kind of raw data people receive after sending a cheek swab to companies like 23andMe.
A geneticist who specialises in cardiovascular disease, he hopes to open a website where people can send in such data to learn their heart risk, as part of continuing research. Dr Kathiresan and co-author Dr Amit Khera, a Massachusetts General cardiologist, are co-inventors on a patent application for the system.
Other scientists and companies have long sought ways to measure risk from multiple, additive gene effects — the “poly” in polygenic — and Myriad Genetics has begun selling a type of polygenic test for breast cancer risk.
But specialists in heart disease and genetics who weren’t involved with the research called the new findings exciting because of their scope.
“The results should be eye-opening for cardiologists,” said Dr Charles C. Hong, director of cardiovascular research at the University of Maryland School of Medicine. “The only disappointment is that this score applies only to those with European ancestry, so I wonder if similar scores are in the works for the large majority of the world population that is not white.”
The National's picks
4.35pm: Tilal Al Khalediah
5.10pm: Continous
5.45pm: Raging Torrent
6.20pm: West Acre
7pm: Flood Zone
7.40pm: Straight No Chaser
8.15pm: Romantic Warrior
8.50pm: Calandogan
9.30pm: Forever Young
Basquiat in Abu Dhabi
One of Basquiat’s paintings, the vibrant Cabra (1981–82), now hangs in Louvre Abu Dhabi temporarily, on loan from the Guggenheim Abu Dhabi.
The latter museum is not open physically, but has assembled a collection and puts together a series of events called Talking Art, such as this discussion, moderated by writer Chaedria LaBouvier.
It's something of a Basquiat season in Abu Dhabi at the moment. Last week, The Radiant Child, a documentary on Basquiat was shown at Manarat Al Saadiyat, and tonight (April 18) the Guggenheim Abu Dhabi is throwing the re-creation of a party tonight, of the legendary Canal Zone party thrown in 1979, which epitomised the collaborative scene of the time. It was at Canal Zone that Basquiat met prominent members of the art world and moved from unknown graffiti artist into someone in the spotlight.
“We’ve invited local resident arists, we’ll have spray cans at the ready,” says curator Maisa Al Qassemi of the Guggenheim Abu Dhabi.
Guggenheim Abu Dhabi's Canal Zone Remix is at Manarat Al Saadiyat, Thursday April 18, from 8pm. Free entry to all. Basquiat's Cabra is on view at Louvre Abu Dhabi until October
Wednesday's results
Finland 3-0 Armenia
Faroes Islands 1-0 Malta
Sweden 1-1 Spain
Gibraltar 2-3 Georgia
Romania 1-1 Norway
Greece 2-1 Bosnia and Herzegovina
Liechtenstein 0-5 Italy
Switzerland 2-0 Rep of Ireland
Israel 3-1 Latvia
The specs
Engine: Four electric motors, one at each wheel
Power: 579hp
Torque: 859Nm
Transmission: Single-speed automatic
Price: From Dh825,900
On sale: Now
How to improve Arabic reading in early years
One 45-minute class per week in Standard Arabic is not sufficient
The goal should be for grade 1 and 2 students to become fluent readers
Subjects like technology, social studies, science can be taught in later grades
Grade 1 curricula should include oral instruction in Standard Arabic
First graders must regularly practice individual letters and combinations
Time should be slotted in class to read longer passages in early grades
Improve the appearance of textbooks
Revision of curriculum should be undertaken as per research findings
Conjugations of most common verb forms should be taught
Systematic learning of Standard Arabic grammar
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How to watch Ireland v Pakistan in UAE
When: The one-off Test starts on Friday, May 11
What time: Each day’s play is scheduled to start at 2pm UAE time.
TV: The match will be broadcast on OSN Sports Cricket HD. Subscribers to the channel can also stream the action live on OSN Play.
The%20specs
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Uefa Nations League: How it works
The Uefa Nations League, introduced last year, has reached its final stage, to be played over five days in northern Portugal. The format of its closing tournament is compact, spread over two semi-finals, with the first, Portugal versus Switzerland in Porto on Wednesday evening, and the second, England against the Netherlands, in Guimaraes, on Thursday.
The winners of each semi will then meet at Porto’s Dragao stadium on Sunday, with the losing semi-finalists contesting a third-place play-off in Guimaraes earlier that day.
Qualifying for the final stage was via League A of the inaugural Nations League, in which the top 12 European countries according to Uefa's co-efficient seeding system were divided into four groups, the teams playing each other twice between September and November. Portugal, who finished above Italy and Poland, successfully bid to host the finals.
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UAE currency: the story behind the money in your pockets
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A MINECRAFT MOVIE
Director: Jared Hess
Starring: Jack Black, Jennifer Coolidge, Jason Momoa
Rating: 3/5
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The specs
Engine: 3.0-litre six-cylinder turbo
Power: 398hp from 5,250rpm
Torque: 580Nm at 1,900-4,800rpm
Transmission: Eight-speed auto
Fuel economy, combined: 6.5L/100km
On sale: December
Price: From Dh330,000 (estimate)
How much sugar is in chocolate Easter eggs?
- The 169g Crunchie egg has 15.9g of sugar per 25g serving, working out at around 107g of sugar per egg
- The 190g Maltesers Teasers egg contains 58g of sugar per 100g for the egg and 19.6g of sugar in each of the two Teasers bars that come with it
- The 188g Smarties egg has 113g of sugar per egg and 22.8g in the tube of Smarties it contains
- The Milky Bar white chocolate Egg Hunt Pack contains eight eggs at 7.7g of sugar per egg
- The Cadbury Creme Egg contains 26g of sugar per 40g egg
At a glance
Global events: Much of the UK’s economic woes were blamed on “increased global uncertainty”, which can be interpreted as the economic impact of the Ukraine war and the uncertainty over Donald Trump’s tariffs.
Growth forecasts: Cut for 2025 from 2 per cent to 1 per cent. The OBR watchdog also estimated inflation will average 3.2 per cent this year
Welfare: Universal credit health element cut by 50 per cent and frozen for new claimants, building on cuts to the disability and incapacity bill set out earlier this month
Spending cuts: Overall day-to day-spending across government cut by £6.1bn in 2029-30
Tax evasion: Steps to crack down on tax evasion to raise “£6.5bn per year” for the public purse
Defence: New high-tech weaponry, upgrading HM Naval Base in Portsmouth
Housing: Housebuilding to reach its highest in 40 years, with planning reforms helping generate an extra £3.4bn for public finances
