Coronary Artery Disease and Your Genes: What a 23andMe Risk Score Really Means

Coronary Artery Disease and Your Genes: What a 23andMe Risk Score Really Means

This article is for educational purposes only. It is not a substitute for advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. For any decisions about testing, treatment, or care, consult a qualified clinician. In emergencies, call 911.

Bottom line: A high genetic score for heart disease shifts the odds, and nothing more. Three teams found the same stretch of chromosome 9 in 2007, and by 2022 the count had passed 250 regions. In one large US study, about 11 of every 100 people at high genetic risk had a heart event within 10 years. With better daily habits it was about 5 in 100. The US government genome institute says these scores are not yet used in routine care. Take the report to a doctor rather than acting on it alone.

What you’ll learn

• What “many small gene changes” means, and how it differs from one faulty gene
• How the reported multipliers turn into plain “about N out of 100 people” numbers
• What a mail-in heart report can and cannot do, and what the FDA has actually reviewed
• Which heart drugs are approved, in which country, and since when

One Gene or Many? Why Common Heart Disease Is a Stack of Small Nudges

Some heart problems do come from one gene. The best known is familial hypercholesterolemia. That is an inherited condition that drives cholesterol very high from birth.

The US Centers for Disease Control and Prevention puts it at about 1 in 500 people, or roughly 600,000 Americans. Most of them do not know they have it. That is a one-gene condition, and a doctor tests for it on purpose.

Common heart disease works the other way. It is polygenic. Polygenic means many small DNA spelling differences, each nudging risk a little, all added together.

	One faulty gene	Many small gene changes
Example	The inherited high-cholesterol condition	Common heart disease
How common	About 1 in 500 people	Everyone carries some mix
What a result says	A change was found, or it was not	Where you sit in a line of 100 people
Who orders it	A doctor, on purpose	Often a mail-in kit
Does it change care	Yes, a set follow-up path exists	Not on its own; no society advises it yet

The 2007 discovery, in three steps

The field turned on one stretch of chromosome 9. Three teams landed on it in the same year.

• Iceland, 2007. About 21 in 100 people carry two copies of the risk spelling. Their risk of a heart attack was about 1.64 times that of people with no copy.
• Ottawa, Canada, 2007. The same stretch showed up in six samples and more than 23,000 people. Two copies meant about 30 to 40 percent higher risk.
• UK and Germany, 2007. A scan of the whole genome put the same region at the top in both groups.

Note that the first two numbers do not match. One team got 1.64 times; the other got 30 to 40 percent higher. Both are honest readings of different samples. Nobody should quote a single tidy figure here.

There is a second honest wrinkle. That stretch of chromosome 9 holds no gene that makes a protein. Why it raises risk is still argued over. It does not act through cholesterol, blood pressure or diabetes, so it is a separate signal from the usual lab numbers.

By 2022 the picture had grown. A study of more than a million people found 241 links, and more than 250 risk regions in all. The same team used gene editing to test a control switch inside a gene called MYO9B. That switch appears to act on how artery-wall cells move.

Think of a light switch versus a row of dimmer dials. One faulty gene is a switch. Common heart disease is hundreds of dials, each nudged a little up or down.

If early heart disease runs in your family, ask your doctor whether the one-gene kind should be ruled out first. That is a different test with a different answer.

Section recap: One faulty gene can drive very high cholesterol from birth, and about 1 in 500 people have that. Common heart disease instead comes from more than 250 small gene effects added together.

How Much Does a Score Really Move Your Odds?

Start with the base rate, because every multiplier is a multiplier of something. The Framingham Heart Study followed people from age 40. About 49 out of 100 men and about 32 out of 100 women went on to develop heart disease at some point in life. The authors put it as one in two for men and one in three for women.

That study recruited in one mostly white Massachusetts town in the early 1970s. It is a reference point, not your forecast.

Now the key rule. A multiplier cannot be laid on top of a lifetime figure. Taking 49 in 100 and doubling it gives a number above 100, which means nothing. So the honest way to read a multiplier is against a 10-year rate, and to say which rate you used.

Two plain definitions first. An odds ratio is how many times more likely one group was than another. A hazard ratio is how many times faster events piled up in one group than another.

What a study reported	The plain version	What it does not mean
Two copies on chromosome 9: about 1.64 times the risk	Risk rose by about half again	Not double, and about 1 in 5 people carry two copies
Two copies: 30 to 40 percent higher risk	If 10 in 100 were affected, about 13 or 14 would be	The two 2007 teams did not agree on the size
Top score band: more than 3 times average odds, in about 8 in 100 people	A group-to-group gap, not a personal date	It is not the same as a one-gene cause
Top fifth versus bottom fifth: about 4 times the event rate	The score sorts the two ends of the population well	Raw accuracy was 0.62, better than a coin flip, far from a crystal ball
High genetic risk, 10-year rates: about 11 in 100 versus about 5 in 100	The clearest out-of-100 pair in this field	Habits were measured, not assigned, so this is not proof of cause

A few more findings fill in the picture.

• Among people already on cholesterol or blood pressure drugs, the top-to-bottom gap shrank to under 3 times. Treatment narrows the spread.
• A 2023 score built from five ancestry groups did better than older scores in every group tested. About 3 in 100 healthy people scored as high as people who already had heart disease.
• The risk calculator US doctors actually use runs on age, blood pressure, cholesterol, smoking, diabetes and kidney function. It was built and checked on more than 6 million adults, and it holds no DNA at all.

So the score is real, and it is coarse. The American Heart Association calls its own guidance on these scores provisional. Ask your doctor to read the report next to your blood pressure, your blood fats and your family story, not by itself.

Section recap: The clean numbers to hold onto are about 11 in 100 versus about 5 in 100 over 10 years in the highest genetic-risk group. A score sorts groups; it does not forecast one person.

What a Mail-In Heart Report Is, and What It Is Not

There are three different things a US or Canadian reader can run into. They answer three different questions.

	Mail-in risk score	Gene panel a doctor orders	Tests that guide care today
Who orders it	You do	A doctor does	A doctor does
What it answers	Where you sit in a line of 100 people	Is one faulty gene there, such as the inherited high-cholesterol one	What your blood fats are, and whether plaque is there now
Reviewed by the FDA as a medical test	No. The heart report sits outside the FDA’s 2017 review	Yes, it is ordered and read inside clinical care	Yes, these are routine clinical tests
Does it change treatment	Not by itself; no society recommends it	Yes, a set follow-up path exists	Yes, guidelines are built around them

The FDA point is worth stating exactly. In 2017 the agency cleared ten named health-risk reports for this company, such as the one for late-onset Alzheimer’s disease. Coronary artery disease is not one of the ten. That does not make the report fake. It means no regulator has reviewed it as a medical test.

The company’s own paper says the heart report launched in 2020. Your place in line is set by dropping you into one of 92 buckets, with the top and bottom 5 percent each collapsed into a single bucket. That is product documentation, not a peer-reviewed study.

What this kind of report cannot tell you

• Whether you will have a heart attack, or when
• How severe an event would be
• How well the score fits you, if your ancestry is not mostly European. The US genome institute says the accuracy may only hold for people of European ancestry
• A fixed number. Your place in line depends on the group and the chip it was scored against

The familiar calcium-score cut-offs many doctors still quote come from the 2018 US cholesterol guideline, which was retired and replaced in 2026. Meanwhile, three ordinary tests do steer care right now. The 2026 US cholesterol guideline asks for a lipoprotein(a) blood test at least once in a lifetime for every adult. It scores risk with the PREVENT-ASCVD calculator, and it uses a coronary calcium scan to help settle close calls. Canada’s guideline also asks for a one-time lipoprotein(a) test as part of a first cholesterol screen.

Lipoprotein(a) is the one blood fat that really is set mostly by your genes. Roughly 70 to more than 90 percent of the difference between people is inherited, and it raises risk on its own. It is a blood draw, not a DNA kit.

Genetic counselors are advisers trained to explain what a DNA test can and cannot show. Their US professional body asks buyers to weigh privacy and family impact before ordering a kit. It also suggests a talk with a counselor if you are unsure what a test can do. You can find one through the NSGC Find a Genetic Counselor directory. Bring the report to your own doctor as well.

Section recap: A mail-in heart score is not an FDA-reviewed medical test, and coronary artery disease was not among the ten reports the agency cleared in 2017. The tests that guide care today are a lipid panel, a one-time lipoprotein(a) test, and a calcium scan.

How to Read Your Result Without Panic and Without a Shrug

A score is a percentile. A percentile is just where you sit in a line of 100 people. Here is a simple way to read the page.

1. Find the band. Note the percentile and the wording the report uses for it.
2. Check the comparison group. A percentile depends on which population and which chip were used.
3. Note the version and date. Scores get recalculated as reference panels improve, so your band can move even though your DNA did not.
4. Write down three questions for your next visit, and bring the report with you.

What a high band means

• Your mix of common gene changes sits toward the high end of a reference group
• Your doctor now has one more piece of context, next to blood pressure, blood fats and family history

What a high band does not mean

• It does not mean disease is present. It is not a diagnosis
• It does not set a date, and it does not say how severe anything would be
• A low band does not cancel smoking, high LDL cholesterol or diabetes

Two words often get pulled into this and do not belong. A VUS is a variant of uncertain significance, a DNA change nobody yet knows how to classify. It comes from one-gene testing, and a risk score has no such category. Penetrance means how often a DNA change actually leads to the condition. It is also a one-gene idea, and no verified figure attaches it to a risk score.

What to bring to the visit

• The report itself, printed or on screen
• Your family story, with ages at the first event
• Your recent cholesterol and blood pressure numbers
• Your questions, including whether a calcium scan or a lipoprotein(a) test is reasonable for you

That last one is a question for a clinician, not a decision to make at home. The 2019 US prevention guideline never mentions risk scores at all, which is a useful fact about where the field stands. Your doctor decides what to do with the report; the report does not decide for either of you.

Section recap: A percentile is a place in line, and it can move when the reference panel changes. Bring the report, your numbers and your family story to a clinician, and let them weigh it together.

Genes Are Not Destiny: What Habits and Statins Actually Did

This is the part with the best numbers in the whole field. A 2016 study followed about 55,685 people across three community studies plus an imaging study.

It scored four simple habits: not smoking now, not being obese, regular activity, and a reasonable diet. Three out of four counted as favorable.

Study group, highest genetic risk	Unfavorable habits	Favorable habits
US community study	About 11 in 100 over 10 years	About 5 in 100
Women’s health study	About 5 in 100	About 2 in 100
Swedish study	About 8 in 100	About 5 in 100

Read the first row slowly. Same high genetic risk, roughly half the events. In relative terms it was about 46 percent lower risk.

A 2015 analysis looked at statins instead. It pooled one community study and four randomized trials, about 48,421 people in all. The people at highest genetic risk gained the most.

• In one prevention trial, doctors had to treat 66 low-risk people for 10 years to prevent one event, but only 25 of the high-genetic-risk people.
• In a second trial the same figures were 57 and 20.
• Relative benefit, meaning the share of events that did not happen, rose across the three genetic bands: about 13 percent, then 29 percent, then 48 percent.

Levers that show up in this research

• Not smoking
• Keeping weight in a healthy range
• Regular physical activity
• A reasonable diet
• Treating blood fats and blood pressure with a doctor’s help

Now the honest limits. In the habits study, habits were measured, not assigned by chance. The statin analysis was a look back at finished trials, and nobody was ever assigned treatment by genetic score. Both are strong clues, not proof of cause.

None of this is a reason to start or stop a drug on your own. Take these two studies to your doctor and ask what they mean for you.

Section recap: In the highest genetic-risk group, about 11 in 100 had an event in 10 years with unfavorable habits, versus about 5 in 100 with favorable ones. The number of people needed to treat with a statin fell from 66 to 25 in the highest genetic-risk band.

Heart Drugs in 2026: Approved Where, and Since When

Headlines rarely say which country approved what, or when. Here is the map.

Drug, in plain words	What it does	Regulator and date	Status
Low-dose colchicine, US brand Lodoco	Calms swelling in the artery wall	FDA, 16 June 2023	Approved for adults with artery disease or several risk factors
Low-dose colchicine, Canadian brand Myinfla	The same drug, in a slow-release tablet	Health Canada, 20 August 2021	Approved, on top of usual cholesterol and clot-preventing care
Statins	Lower LDL cholesterol, the harmful blood fat	Recommended in the 2026 US guideline and in Canada’s guideline	Standard care
Non-statin add-on drugs	Lower LDL further when a statin is not enough	Covered by current US and Canadian guidelines	In use
Pelacarsen	Lowers lipoprotein(a)	No FDA approval; not in Drugs@FDA	Its large trial finished; topline results announced 4 September 2026 missed the goal
Olpasiran	Lowers lipoprotein(a)	No FDA approval; not in Drugs@FDA	Still in trials, with results due around 2028

Canada got there first on colchicine, by nearly two years. The Canadian brand name is Myinfla, and the US brand is not sold there.

The trial numbers are modest, and they are worth seeing plainly.

• In a trial of 5,522 people with long-standing heart disease, about 7 in 100 on colchicine had a major event. That was over roughly two and a half years, against about 10 in 100 on placebo.
• In a Montreal-led trial of 4,745 people just after a heart attack, it was about 6 in 100 versus about 7 in 100.
• The first trial also saw slightly more deaths from non-heart causes on the drug, and that question is not settled.

The idea behind these pills was proved earlier. In a 2017 trial of 10,061 people, an anti-inflammatory antibody cut heart events even though cholesterol did not move at all. The gain was small, and fatal infections rose, so that drug never became a heart medicine.

One limit applies to every row above. Everyone in these trials already had heart disease. None of it was tested in healthy people with a high genetic score.

On lipoprotein(a), the news is recent and blunt. The first large trial of pelacarsen, in 8,323 people, reported on 4 September 2026. The drug lowered lipoprotein(a) as designed, but it did not reduce heart events. A second drug is still being tested, with results due around 2028. So there is nothing to ask a doctor to prescribe for a high lipoprotein(a) result today.

Any change to your own drugs belongs in a conversation with your physician. Bring this table, not a decision.

Section recap: Health Canada authorized low-dose colchicine on 20 August 2021, and the FDA followed on 16 June 2023. Neither lipoprotein(a) drug is FDA-approved, and the first big trial missed its goal.

What It Means for Your Children, Siblings and Parents

There is no 50 percent rule here. That rule belongs to one-gene conditions. Each child gets a random half of each parent’s risk spellings, so two siblings can land far apart in the line of 100.

Family history is still the stronger tool, and it is free. US guidelines already count it as a formal risk factor. The definition is a first-degree male relative affected before 55, or a female relative before 65. The American Heart Association puts a number on it. Having a parent with early heart disease is linked to about 50 percent higher odds, on top of the usual risk factors.

A six-question family history checklist

1. Which blood relatives have had a heart attack, a stent, or bypass surgery?
2. How old was each of them at the first event?
3. Did anyone die suddenly before age 60?
4. Has anyone been told they have very high cholesterol from a young age?
5. Who has diabetes, high blood pressure, or a long smoking history?
6. Which side of the family does each answer come from?

Cascade testing means testing blood relatives one by one after a finding in the family. For the inherited high-cholesterol condition, the CDC recommends exactly that, using DNA testing plus cholesterol levels. It covers first-degree and second-degree relatives, and third-degree where possible. That pathway does not exist for risk scores.

When a referral is reasonable to raise with your doctor

• Several relatives with early heart disease on the same side
• Very high cholesterol in a relative from a young age
• A sudden cardiac death in the family before 60
• Your own questions about what a mail-in report can and cannot do

Ask a primary care physician or a genetic counselor which of these applies to your family, and start by writing the history down. Even the largest study to date drew mostly on people of European ancestry, so a score travels less well than a family tree does.

Section recap: There is no simple inheritance percentage for a many-gene trait, and siblings can land far apart. A written family history, with ages at the first event, carries more decision weight than a consumer score.

Insurance, Jobs, and Telling Your Family

Fear of insurers stops many people from testing. The law is clearer than most people think, and it differs by country.

	United States	Canada
Health insurance	Protected by GINA	Protected
Life, disability, long-term care	Not protected by GINA	Protected, because the ban covers any contract or service
Employment	Protected at firms with 15 or more staff	Protected under the same broad ban
Known gaps	The military may use genetic information; small firms are exempt	Insurers may not require a test or a result
Backing	Federal law, with extra protection in some states	Criminal law, upheld by the Supreme Court on 10 July 2020

A few details are worth spelling out. The US law is the Genetic Information Nondiscrimination Act of 2008. It bars health insurers from using genetic information, and it bars covered employers from requesting genetic tests as a condition of work. It does not reach life, disability or long-term care insurance, and the American Heart Association says the same thing plainly.

Canada’s Genetic Non-Discrimination Act came into force in 2017. No one may require you to take a genetic test, or to hand over a result, to get goods, services or a contract. Nobody may collect or share your result without written consent. Penalties reach fines of up to $1 million and up to five years in prison.

Before you test, consider

• Who in the family might be affected by what you learn
• Whether the lab uses validated methods and follows regulation
• Whether a short talk with a genetic counselor would help first
• What you would do with a high band, and with a low one

Telling relatives is a personal choice, not a duty. A plain opening works well. Say that a DNA report put you in a higher heart-risk band, that it is not a diagnosis, and that the family history still matters. Then point them to their own doctor rather than to your report.

Section recap: US law protects health insurance and most jobs, but not life, disability or long-term care cover. Canada’s 2017 law is broader and covers any contract or service, including insurance.

Frequently Asked Questions

Will I get the disease?

Nobody can tell you that from a score. A high band means your mix of common gene changes sits at the high end of a reference group. In the study with the clearest numbers, about 11 in 100 people at high genetic risk had an event within 10 years. With better habits it was about 5 in 100. Most people in both groups did not.

Will my children inherit it?

Not as a number. Each child gets a random half of your risk spellings, so siblings can land far apart in the line of 100. What does transfer clearly is family history. US guidelines count it as a risk factor when a first-degree male relative was affected before 55, or a female relative before 65.

Will this affect my health or life insurance?

In the US, health insurance is protected and life insurance is not. In Canada, the 2017 law covers any contract or service, so an insurer may not require a test or a result. Rules differ by state and by product, so ask before you apply.

Can my employer find out?

US law bars employers with 15 or more staff from requesting or using your genetic information for hiring, firing, pay or promotion. Smaller firms are exempt, and the military may use genetic information. Canada’s ban is broader and carries criminal penalties.

Should I get a second opinion?

Bringing a mail-in report to a clinician is not a second opinion; it is the first one. Genetic counselors advise talking to a professional if you are unsure what a test can do for you, and their directory is free. Three things are worth raising at that visit.

• The report itself, with its date and its wording
• Your family history, with ages at the first event
• Whether a lipid panel, a one-time lipoprotein(a) test, or a calcium scan fits your case

Summary

Common heart disease is polygenic. More than 250 gene regions each add a small nudge, and the most replicated one sits on chromosome 9, found by three teams in 2007. That is a different thing from the one-gene condition that drives cholesterol very high from birth, which affects about 1 in 500 people.

A score sorts groups, not futures. The top fifth of one score had about 4 times the event rate of the bottom fifth, yet the score’s raw accuracy was 0.62. No professional society recommends screening by score, and the US risk calculator holds no DNA at all.

The most useful numbers are the plain ones. About 11 in 100 people at high genetic risk had a heart event in 10 years, versus about 5 in 100 with favorable habits. In the highest genetic-risk band, treating 25 people with a statin prevented one event, against 66 in the lowest band.

On drugs, Canada authorized low-dose colchicine on 20 August 2021, and the FDA followed on 16 June 2023. Neither lipoprotein(a) drug is FDA-approved, and the first large trial missed its goal on 4 September 2026. On law, the US protects health cover and most jobs but not life insurance, while Canada’s 2017 act is broader.

The next step is simple.

• Print the report, and note its version and date
• Write down the family history, with ages at the first event
• Take both to a clinician, and ask which tests fit your case

This article is for educational purposes only. It is not a substitute for advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. For any decisions about testing, treatment, or care, consult a qualified clinician. In emergencies, call 911.

🌐 日本語版: 冠動脈疾患の遺伝的リスクとは｜9p21.3からポリジェニックスコア、生活習慣で約半減の研究まで

References

1. Helgadottir A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007 Jun 8;316(5830):1491-3. PMID 17478679. DOI 10.1126/science.1142842. https://pubmed.ncbi.nlm.nih.gov/17478679/
2. McPherson R, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007 Jun 8;316(5830):1488-91. PMID 17478681. DOI 10.1126/science.1142447. https://pubmed.ncbi.nlm.nih.gov/17478681/
3. Samani NJ, et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007 Aug 2;357(5):443-53. PMID 17634449. DOI 10.1056/NEJMoa072366. https://pubmed.ncbi.nlm.nih.gov/17634449/
4. Aragam KG, Jiang T, Goel A, et al. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet. 2022 Dec;54(12):1803-1815. PMID 36474045. DOI 10.1038/s41588-022-01233-6. https://pubmed.ncbi.nlm.nih.gov/36474045/
5. Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018 Sep;50(9):1219-1224. PMID 30104762. DOI 10.1038/s41588-018-0183-z. https://pubmed.ncbi.nlm.nih.gov/30104762/
6. Inouye M, Abraham G, Nelson CP, et al. Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention. J Am Coll Cardiol. 2018 Oct 16;72(16):1883-1893. PMID 30309464. DOI 10.1016/j.jacc.2018.07.079. https://pubmed.ncbi.nlm.nih.gov/30309464/
7. Patel AP, Wang M, Ruan Y, et al. A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease. Nat Med. 2023 Jul;29(7):1793-1803. PMID 37414900. DOI 10.1038/s41591-023-02429-x. https://pubmed.ncbi.nlm.nih.gov/37414900/
8. Khera AV, Emdin CA, Drake I, et al. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med. 2016 Dec 15;375(24):2349-2358. PMID 27959714. DOI 10.1056/NEJMoa1605086. https://pubmed.ncbi.nlm.nih.gov/27959714/
9. Mega JL, Stitziel NO, Smith JG, et al. Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet. 2015 Jun 6;385(9984):2264-2271. PMID 25748612. DOI 10.1016/S0140-6736(14)61730-X. https://pubmed.ncbi.nlm.nih.gov/25748612/
10. Lloyd-Jones DM, Larson MG, Beiser A, Levy D. Lifetime risk of developing coronary heart disease. Lancet. 1999 Jan 9;353(9147):89-92. PMID 10023892. DOI 10.1016/S0140-6736(98)10279-9. https://pubmed.ncbi.nlm.nih.gov/10023892/
11. Nidorf SM, Fiolet ATL, Mosterd A, et al. Colchicine in Patients with Chronic Coronary Disease. N Engl J Med. 2020 Nov 5;383(19):1838-1847. PMID 32865380. DOI 10.1056/NEJMoa2021372. https://pubmed.ncbi.nlm.nih.gov/32865380/
12. Tardif JC, Kouz S, Waters DD, et al. Efficacy and Safety of Low-Dose Colchicine after Myocardial Infarction. N Engl J Med. 2019 Dec 26;381(26):2497-2505. PMID 31733140. DOI 10.1056/NEJMoa1912388. https://pubmed.ncbi.nlm.nih.gov/31733140/
13. Ridker PM, Everett BM, Thuren T, et al. Antiinflammatory Therapy with Canakinumab for Atherosclerotic Disease. N Engl J Med. 2017 Sep 21;377(12):1119-1131. PMID 28845751. DOI 10.1056/NEJMoa1707914. https://pubmed.ncbi.nlm.nih.gov/28845751/
14. US Food and Drug Administration, Drugs@FDA. LODOCO (colchicine 0.5 mg tablets), NDA 215727, Agepha Pharma FZ; original approval 16 June 2023. https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&ApplNo=215727
15. Health Canada Drug Product Database. MYINFLA (colchicine extended-release tablets, 0.5 mg), DIN 02519380, Pendopharm, Division of Pharmascience Inc.; date of initial authorization 20 August 2021. https://health-products.canada.ca/dpd-bdpp/info?lang=eng&code=100865
16. US Food and Drug Administration. Evaluation of Automatic Class III Designation for the 23andMe Personal Genome Service (PGS) Genetic Health Risk Test. De Novo Decision Summary DEN160026; decision 6 April 2017, correction 2 November 2017. https://www.accessdata.fda.gov/cdrh_docs/reviews/den160026.pdf
17. Khan SS, Matsushita K, Sang Y, et al. Development and Validation of the American Heart Association’s PREVENT Equations. Circulation. 2024 Feb 6;149(6):430-449 (erratum Circulation. 2024 Mar 12;149(11):e956). PMID 37947085. DOI 10.1161/CIRCULATIONAHA.123.067626. https://pubmed.ncbi.nlm.nih.gov/37947085/
18. Blumenthal RS, Morris PB, Gaudino M, et al. 2026 ACC/AHA/Multisociety Guideline on the Management of Dyslipidemia. Circulation. 2026 Apr 28;153(17):e1154-e1276. PMID 41824552. DOI 10.1161/CIR.0000000000001423. https://pubmed.ncbi.nlm.nih.gov/41824552/
19. Arnett DK, et al. 2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: Executive Summary. J Am Coll Cardiol. 2019 Sep 10;74(10):1376-1414. PMID 30894319. DOI 10.1016/j.jacc.2019.03.009. https://pubmed.ncbi.nlm.nih.gov/30894319/
20. O’Sullivan JW, Raghavan S, Marquez-Luna C, et al. Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circulation. 2022 Aug 23;146(8):e93-e118. PMID 35862132. DOI 10.1161/CIR.0000000000001077. https://pubmed.ncbi.nlm.nih.gov/35862132/
21. Pearson GJ, Thanassoulis G, Anderson TJ, et al. 2021 Canadian Cardiovascular Society Guidelines for the Management of Dyslipidemia for the Prevention of Cardiovascular Disease in Adults. Can J Cardiol. 2021 Aug;37(8):1129-1150. PMID 33781847. DOI 10.1016/j.cjca.2021.03.016. https://pubmed.ncbi.nlm.nih.gov/33781847/
22. Reyes-Soffer G, Ginsberg HN, Berglund L, et al. Lipoprotein(a): A Genetically Determined, Causal, and Prevalent Risk Factor for Atherosclerotic Cardiovascular Disease: A Scientific Statement From the American Heart Association. Arterioscler Thromb Vasc Biol. 2022 Jan;42(1):e48-e60. PMID 34647487. DOI 10.1161/ATV.0000000000000147. https://pubmed.ncbi.nlm.nih.gov/34647487/
23. Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/Multisociety Guideline on the Management of Blood Cholesterol. Circulation. 2019 Jun 18;139(25):e1082-e1143. PMID 30586774. DOI 10.1161/CIR.0000000000000625. https://pubmed.ncbi.nlm.nih.gov/30586774/ (retired and replaced by reference 18)
24. National Human Genome Research Institute, National Institutes of Health. Polygenic Risk Scores fact sheet; Genetic Discrimination and the Genetic Information Nondiscrimination Act of 2008 (Pub. L. 110-233) policy pages. https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores and https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination
25. US Centers for Disease Control and Prevention. Heart Disease Facts; Tier 1 Genomic Applications – Familial Hypercholesterolemia (CDC Office of Public Health Genomics). https://www.cdc.gov/heart-disease/data-research/facts-stats/index.html and https://archive.cdc.gov/www_cdc_gov/genomics/implementation/toolkit/fh_1.htm
26. Genetic Non-Discrimination Act, S.C. 2017, c. 3 (Government of Canada, Justice Laws Website); Reference re Genetic Non-Discrimination Act, 2020 SCC 17 (Supreme Court of Canada, judgment 10 July 2020). https://laws-lois.justice.gc.ca/eng/acts/G-2.5/page-1.html and https://www.scc-csc.ca/judgments-jugements/cb/2020/38478/
27. ClinicalTrials.gov, US National Library of Medicine. NCT04023552 (Lp(a)HORIZON, pelacarsen, Phase 3, n=8,323); NCT05581303 (OCEAN(a)-Outcomes, olpasiran, Phase 3, n=7,297). https://clinicaltrials.gov/study/NCT04023552 and https://clinicaltrials.gov/study/NCT05581303
28. Novartis. Novartis announces Lp(a)HORIZON Phase III topline results for pelacarsen in patients with elevated Lp(a) and established cardiovascular disease. Media release, 4 September 2026. https://www.novartis.com/news/media-releases/novartis-announces-lpahorizon-phase-iii-topline-results-pelacarsen-patients-elevated-lpa-and-established-cardiovascular-disease-cvd
29. National Society of Genetic Counselors. Consumer-Initiated Genetic Testing Position Statement. Approved June 2019, revised November 2025. https://www.nsgc.org/Advocacy/Position-Statements/Position-Statements/Post/consumer-initiated-genetic-testing-position-statement
30. Ashenhurst JR, Zhan J, Multhaup ML, et al. A Generalized Method for the Creation and Evaluation of Polygenic Scores. 23andMe White Paper 23-21 (company document, not peer reviewed). https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf

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Last updated: 2026-09-11

Author: Yu Mizuno (Editor-in-Chief, non-physician), GeneLumen editorial team. This article aggregates 30 sources from peer-reviewed medical literature and public health agencies (tier 1=21 / tier 2=7 / tier 3=1 / tier 4=1). Sources include the NIH National Human Genome Research Institute, the CDC, the FDA, Health Canada, the Government of Canada, ClinicalTrials.gov, and PubMed-indexed publications. Editorial lead: Yu Mizuno, non-physician research editor.

This article is for educational purposes only and is not a substitute for medical advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. In emergencies, call 911 (US/Canada) or 119 (Japan).

Related: Metabolic and Hematologic Genetic Diseases category