Familial Hypertrophic Cardiomyopathy Genetic Testing: What Research Says About MYBPC3 and MYH7 Results

Familial Hypertrophic Cardiomyopathy Genetic Testing: What Research Says About MYBPC3 and MYH7 Results

This article is for educational purposes only. It does not replace diagnosis, treatment or genetic counseling. 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: Research shows that a gene change in MYBPC3 or MYH7 raises the chance of heart muscle thickening, but it is not a diagnosis. In one UK study, about 46 of 100 carriers developed the disease within 15 years. Family members still need regular heart scans, even when gene tests are negative or unclear. New drugs help some adults with the obstructive form, and they need close heart monitoring.

What you’ll learn

• How familial HCM passes through families, and why a gene change is not the same as the disease
• What cohort studies say about risk, in plain “out of 100 people” terms
• How clinical gene panels differ from consumer kits such as 23andMe
• What the 2024 guideline says about heart scans, sports and new drugs in the US and Canada

How familial HCM is inherited: sarcomere genes and family patterns

Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes too thick. It affects about 1 in 500 people worldwide. A thick wall can make the heart stiff. In some people, it also blocks blood leaving the heart. Doctors call that form “obstructive” HCM.

Many cases run in families. The most common genetic causes are changes in two genes, MYH7 and MYBPC3. Both genes help build the sarcomere. The sarcomere is the tiny unit inside heart cells that squeezes with each beat. Think of it as the engine part of each muscle cell.

A 2025 expert review by ClinGen sorted the evidence for each HCM gene. It found 29 genes with moderate to definitive evidence. Nine sarcomere genes now have definitive evidence. These are listed below.

Group	Genes with definitive evidence (ClinGen)
Most common	MYBPC3, MYH7
Other sarcomere genes	TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3
Added in 2025	TNNC1

The same review downgraded nine genes to “disputed”. Labs are discouraged from reporting variants in those genes. That matters, because older test reports may list genes that no longer count.

HCM usually follows autosomal dominant inheritance. Autosomal dominant means one changed copy of the gene, from either parent, is enough to raise risk. So each child of a carrier has a 50% chance of inheriting the variant. That is like a coin toss for each child, not a fixed pattern across the family.

Some people are the first in their family with the variant. This is called a de novo variant. A few cases follow other patterns, and rare people carry variants in two or more genes.

Gene tests do not find a cause in everyone. About 70% of people with nonsyndromic HCM have no disease-causing variant in a known HCM gene. A large lab study found a clear disease-causing variant in about 32 of 100 people already diagnosed. Another 15 of 100 had unclear results. So a “no variant found” result does not mean HCM is not genetic.

If HCM runs in the family, a cardiologist or genetic counselor can explain which pattern fits. Genetic counseling is a visit with a trained specialist who explains gene tests, results and family risk.

Section recap: HCM is usually autosomal dominant, so each child of a carrier has a 50% chance of the variant. A gene test finds a clear cause in only about one in three diagnosed people.

If you carry the variant, how likely is disease? Penetrance from cohort data

Carrying a variant is not the same as having HCM. The key idea here is penetrance. Penetrance means the share of people with a variant who actually develop the disease. HCM has incomplete penetrance, so some carriers never develop the condition.

A UK study followed 285 relatives who carried a sarcomere variant but had normal first heart scans. Their median age at first check was about 14 years. They were followed for a median of 8 years.

Here is what happened:

• 86 of the 285 relatives (30.2%) developed HCM during follow-up
• At 15 years, the estimated penetrance was 46%
• In plain terms, about 46 of 100 carriers developed HCM within 15 years
• About half did not develop HCM in that time window

The study reported a 95% confidence interval of 38% to 54% for that 15-year figure. A confidence interval is the range where the true value most likely sits. A wider range means less certainty.

Some factors raised risk. The study used hazard ratios, which compare how fast an event happens in one group versus another. A hazard ratio of 2 means the event happens about twice as fast.

Factor in carriers	Hazard ratio for developing HCM
Male sex	2.91 (95% CI 1.82 to 4.65)
Abnormal ECG at first check	4.02 (95% CI 2.51 to 6.44)
TNNI3 carrier, compared with MYBPC3	0.19 (lower risk)

The SHaRe registry looked at a different group. It studied 4,591 people already diagnosed with HCM at eight specialty centers. Its numbers apply to diagnosed patients, not to carriers with normal scans.

In SHaRe, patients with a disease-causing sarcomere variant had twice the risk of serious problems. This is a relative risk. Relative risk compares how common an outcome is in one group versus another. Patients with only a VUS had an in-between risk. A VUS, or variant of uncertain significance, is a gene change whose effect is not yet known.

Age at diagnosis mattered a lot in SHaRe:

• Diagnosed before age 40: about 77 of 100 had a major event by age 60
• Diagnosed after age 60: about 32 of 100 had a major event by age 70
• Major events were mostly heart failure and atrial fibrillation, an irregular heartbeat

Serious heart rhythm problems affected 32% of those diagnosed before 40. They affected 1% of those diagnosed after 60. People diagnosed in their 20s had four times the death rate of US peers of the same age.

These numbers can feel heavy. Even so, MedlinePlus notes that most people with HCM have a normal life expectancy. Some do develop dangerous rhythms or heart failure. Sudden death risk is higher even without symptoms.

Seek care promptly for unexplained fainting in a young person. The same applies if a relative died suddenly at a young age. These are reasons to see a doctor soon, not to wait for a routine check. For chest pain, collapse or severe trouble breathing, call 911.

Section recap: In one study, about 46 of 100 carriers with normal first scans developed HCM within 15 years. Ask a cardiologist how these averages apply to one family.

Testing options: clinical gene panels vs 23andMe Total Health

There are two broad routes to a gene test. One is a clinical test ordered by a clinician. The other is a consumer kit bought online. They answer very different questions.

Clinical gene panels

A clinical panel reads a set of HCM genes in a certified lab. A cardiologist or genetic counselor usually orders it for the person who already has HCM. The 2024 guideline recommends evaluation by a genetic counselor. It also says testing should include genes for conditions that mimic HCM. These look-alike conditions are called phenocopies.

Bigger panels are not always better. A study of 2,912 diagnosed people found that going beyond about 11 core genes added very few findings. Panels of more than 50 genes found only a small number of extra disease-causing variants.

Consumer kits: the 23andMe case

23andMe offers HCM results only in one product. That product is called “Premium Ancestry + Total Health” and uses exome sequencing. Exome sequencing reads the protein-coding parts of most genes.

Feature	Standard 23andMe Health kit	Premium Ancestry + Total Health
Method	Genotyping array (checks set spots)	Exome sequencing
HCM result included?	No cardiomyopathy condition listed	Yes, “familial hypertrophic cardiomyopathy”
Genes covered for HCM	None	ACTC1, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNI3, TNNT2, TPM1
VUS reported?	Not applicable	No

This product information comes from the company’s own clinician page. It describes coverage only. It is not evidence that a negative result rules out HCM.

Why a negative consumer result is not enough

A negative consumer result never replaces heart screening when a relative has HCM. Most diagnosed people have no variant found at all. A kit also cannot see heart muscle thickness. Only an ECG, an echocardiogram (heart ultrasound) or a cardiac MRI can show that.

Secondary findings

Some people learn about an HCM variant by chance from a broader exome or genome test. The ACMG secondary findings list v3.3 is the current list for those reports. It includes eight HCM genes: MYH7, MYBPC3, TNNI3, TPM1, MYL3, ACTC1, PRKAG2 and MYL2. TNNT2 is listed under dilated cardiomyopathy, with a note that it is also linked to HCM. VUS should not be reported as secondary findings.

Before ordering any test, ask the cardiologist or a genetic counselor which test fits the family history.

Section recap: Clinical panels are the main route after a diagnosis in the family. The standard 23andMe kit gives no HCM result, and no consumer result can replace heart scans.

Reading the result: pathogenic, likely pathogenic, VUS and negative

Gene test reports sort each variant into groups. The wording can sound similar, but the meaning differs a lot. The table gives a plain summary.

Result	What it means	What it usually leads to
Pathogenic	The variant is known to cause HCM	Relatives can be offered testing for the same variant
Likely pathogenic	Strong but not complete evidence that it causes HCM	Grouped with pathogenic in SHaRe and in ACMG reports
VUS	The effect of the variant is not yet known	Not used to label or clear relatives
Negative	No disease-causing variant found	Relatives still need heart screening if HCM is in the family

A VUS can be confusing. It is neither good news nor bad news. In SHaRe, diagnosed patients with a sarcomere VUS had an in-between risk. That still does not make a VUS useful for testing relatives. The guideline extends gene testing to relatives only when a disease-causing variant is found in the affected person.

Results can change over time. As more data come in, labs may move a VUS into another group. ClinGen’s 2025 review moved nine genes into the “disputed” group. An earlier ClinGen check found that 31% of 4,191 listed HCM variants sat in genes with limited or no evidence. So an old report may be worth a fresh review.

A useful analogy is a weather report. “Pathogenic” is like a confirmed storm warning. A VUS is like “data still coming in.” Nobody cancels or plans a trip based on the second one alone.

A genetic counselor can explain a report line by line. In the US, genetic counselors are certified by the American Board of Genetic Counseling (ABGC). In Canada, the Canadian Board of Genetic Counselling (CBGC) certifies them.

Section recap: Only pathogenic or likely pathogenic results guide testing in relatives. A VUS or a negative result does not clear anyone from heart screening.

Screening and prevention: heart scans, sudden-death risk checks and exercise

Relatives of someone with HCM need clinical screening. Clinical screening means heart tests, not just a gene test. The 2024 AHA/ACC guideline describes the plan.

Echocardiogram schedule for family members

According to the ACC summary of the 2024 guideline:

• An echocardiogram is done at the first screening of family members
• It is repeated if symptoms or clinical status change
• Otherwise, it is repeated every 1 to 2 years in children
• Otherwise, it is repeated every 3 to 5 years in adults

A cardiologist can set the right schedule for each relative, based on age and family findings.

Cardiac MRI can add detail. In the UK carrier study, 16 of 50 people who met HCM criteria on MRI did not meet them on echo. The authors suggested regular MRI in long-term screening.

Releasing relatives from repeat checks

Gene testing can save relatives from years of scans. In one lab study, family testing ended the need for long-term heart checks in 691 relatives. These were relatives without the known family variant. This only works when a clear disease-causing variant has been found in the family. Decisions to stop screening belong with the care team.

Sudden cardiac death risk checks

For adolescents and adults with HCM, the guideline advises a sudden death risk review every 1 to 2 years. A 12-lead ECG is advised at the first and yearly visits. The review looks at factors such as these:

• Past cardiac arrest or dangerous fast heartbeat
• Fainting thought to be from a heart rhythm problem
• Family history of early sudden cardiac death
• Maximum thickness of the heart wall
• An apical aneurysm, a bulge at the tip of the heart
• Short runs of fast heartbeat on a wearable ECG monitor

Decisions about an implantable defibrillator (ICD) are made by HCM specialists. An ICD is a small device that can shock the heart back into rhythm.

Exercise and sports

Sports advice has shifted. The guideline says universal restriction from competitive sports in HCM is not indicated. Shared decision-making is used instead. Gene carriers with normal heart scans may play competitive sports. An ICD is not recommended for them just to allow sport.

The LIVE-HCM study supports that view. It followed 1,660 people aged 8 to 60 with HCM or a carrier status. About 42% exercised vigorously.

Group in LIVE-HCM	Rate of serious events
Vigorous exercise	4.7% (15.9 per 1,000 person-years)
Non-vigorous exercise	4.6% (15.3 per 1,000 person-years)

Serious events included death, cardiac arrest, fainting from a rhythm problem and ICD shocks. The adjusted hazard ratio was 1.01. The authors limit this result to people treated at experienced HCM centers. Any sports plan for a teen should be agreed with the cardiologist.

Section recap: Relatives need echo checks, about every 1 to 2 years in children and 3 to 5 years in adults. Sports choices are now shared decisions with an HCM cardiologist.

Treatment landscape: standard care and cardiac myosin inhibitors

Treatment aims to ease symptoms and lower risks. These drugs act on the heart muscle, not on the gene itself. All treatment choices belong to the patient and the cardiologist.

Standard steps for obstructive HCM

The 2024 guideline sets out a stepwise plan for symptoms:

• First: beta-blockers that do not widen blood vessels
• Next: certain calcium channel blockers that slow the heart
• If symptoms persist: a cardiac myosin inhibitor for adults, other medicines, or septal reduction
• Septal reduction thins the thick wall, using surgery or a catheter procedure at experienced centers

Metoprolol is a common beta-blocker. Neither its US label nor its Canadian monograph lists HCM. Its use in HCM comes from the guideline, not from a labeled indication. That status applies to the US (FDA) and Canada (Health Canada) alike.

What are cardiac myosin inhibitors?

These drugs relax the overactive sarcomere “engine.” Two are approved for obstructive HCM. Each carries a boxed warning for heart failure from reduced LVEF. LVEF, or left ventricular ejection fraction, is the share of blood the heart pumps out with each beat. Regular echocardiograms are required during treatment.

Some trial terms appear below. NYHA class grades symptoms from I (none) to IV (severe). Peak VO2 measures how much oxygen the body uses at maximum effort. KCCQ is a symptom and quality-of-life score.

Mavacamten (CAMZYOS)

In the EXPLORER-HCM trial, 251 adults with obstructive HCM took mavacamten or placebo for 30 weeks. The main goal combined exercise capacity and symptom class. It was met by 37% on mavacamten versus 17% on placebo. The difference was 19.4 percentage points, with a 95% CI of 8.7 to 30.1. Peak VO2 rose by 1.4 mL/kg/min more than placebo. Safety was similar to placebo, and most adverse events were mild.

A trial in adolescents, SCOUT-HCM, enrolled 44 patients aged 12 to under 18. The blockage gradient fell by 48.0 mm Hg more than placebo. Adverse events were similar, and no patient had LVEF below 50%.

Aficamten (MYQORZO)

The SEQUOIA-HCM trial enrolled 282 adults with symptomatic obstructive HCM. After 24 weeks, peak VO2 improved by 1.7 mL/kg/min more than placebo. The 95% CI was 1.0 to 2.4. All ten secondary goals improved, including symptom scores. Adverse events appeared similar between groups.

The MAPLE-HCM trial compared aficamten with metoprolol in 175 adults. Peak VO2 rose by 1.1 with aficamten and fell by 1.2 with metoprolol. The difference was 2.3 mL/kg/min (95% CI 1.5 to 3.1). Adverse events appeared similar between groups.

Regulatory status in the US and Canada

REMS stands for Risk Evaluation and Mitigation Strategy. It is an FDA safety program. Under REMS, prescribers, patients and pharmacies must enroll before the drug is given.

Drug	FDA (US)	Health Canada
Mavacamten (CAMZYOS)	Approved 2022-04-28 for adults with NYHA II-III obstructive HCM	Notice of Compliance 2022-11-08. Marketed 2023-01-09
Mavacamten, younger patients	Extended 2026-09-30 to pediatric patients weighing at least 30 kg	Adults only. Pediatric use not authorized
Mavacamten safety program	REMS required	No REMS. Uses a Risk Management Plan with clinician education, a patient wallet card and patient education
Aficamten (MYQORZO)	Approved 2025-12-19 for adults with symptomatic obstructive HCM. REMS required	Authorized 2026-10-14 for adults with NYHA II-III obstructive HCM. Not yet marketed as of 2026-10-29
Aficamten, younger patients	Adult indication only	Pediatric use not authorized
Metoprolol for HCM	No HCM indication on label	No HCM indication in monograph
Any drug for nonobstructive HCM	None approved	None approved

Both Canadian monographs carry a Serious Warnings box for heart failure. Mavacamten’s US label also lists drug interactions that rule out some medicines. Aficamten is not recommended in the US if LVEF is below 55%. The guideline states that mavacamten can harm an unborn baby and should not be used in pregnancy.

Nonobstructive HCM: still investigational

No drug is approved for nonobstructive HCM in either country. The ACACIA-HCM trial tested aficamten in 517 adults with this form. Results for nonobstructive HCM remain investigational.

ACACIA-HCM result	Aficamten vs placebo
KCCQ score difference	3.0 points (95% CI 0.5 to 5.5)
Peak VO2 difference	0.67 mL/kg/min (95% CI 0.22 to 1.11)
LVEF fell below 50% (reversible)	10.5% vs 0.8%
Serious adverse events	20.2% vs 14.7%

The benefits were modest. The LVEF drops and serious adverse events were more common on the drug. Ask the cardiologist whether any trial or treatment fits a family member’s form of HCM.

Section recap: Mavacamten and aficamten are approved for obstructive HCM, with close echo monitoring. No drug is approved for nonobstructive HCM in the US or Canada.

What it means for your family: cascade testing, children and siblings

Cascade testing means testing relatives, step by step, for a variant already found in the family. It starts with first-degree relatives: parents, siblings and children. The guideline extends gene testing to relatives only after a disease-causing variant is found in the affected person.

Here is how the two paths usually differ:

• Variant found in the affected relative: other relatives can take a simple test for that one variant
• Relative tests negative for the family variant: long-term heart checks may no longer be needed, as in 691 relatives in one study
• Relative carries the variant: regular heart scans continue, even if the first scan is normal
• No variant found in the family: all first-degree relatives still need heart screening with echo

Children and teens

HCM symptoms often appear in adolescence or young adulthood. They can begin at any age, though. That is why children in affected families have echo checks every 1 to 2 years. In the UK carrier study, the median age at the first check was about 14. Male carriers developed HCM faster than female carriers.

Testing a child is a family decision. A pediatric cardiologist and a genetic counselor can help weigh timing and feelings.

Talking to siblings and cousins

Sharing results can be hard. Some families use a short letter that explains the variant and the next steps. A genetic counselor can help write one. Each relative can then choose whether to test.

A simple analogy helps here. A family variant is like a shared address on a map. Once the address is known, each relative can check it quickly.

Section recap: Once a clear variant is found, relatives can take a targeted test. Without a known variant, every first-degree relative still needs regular heart scans.

Insurance, discrimination and emotional impact

Worry about insurance is common after a gene test. Laws in the US and Canada offer real, but limited, protection.

United States

Law	What it covers	Key limit
GINA (2008), Title I	Bars genetic discrimination by health insurers	Life, disability or long-term-care insurance
GINA, Title II	Bars employers from using genetic information	Employers with fewer than 15 employees
ACA	Marketplace plans cannot reject or overcharge for pre-existing conditions	Described for Marketplace plans

GINA is the Genetic Information Nondiscrimination Act. Some states add their own protections. A genetic counselor can explain how testing may affect life insurance plans.

Canada

The Genetic Non-Discrimination Act became law in 2017. No one can require a gene test, or its results, as a condition of a contract or service. This includes insurance. Using or sharing results without written consent is also banned. The Supreme Court of Canada upheld the Act in 2020. Penalties can reach $1 million and/or five years in prison.

Emotional impact

Learning about a variant with normal heart scans can feel unsettling. A person may feel “in between” health and illness. Keep in mind that about half of carriers in one study had not developed HCM after 15 years.

Support options include:

• A genetic counselor, certified by ABGC in the US or CBGC in Canada
• The National Society of Genetic Counselors (NSGC) “Find a Genetic Counselor” directory, which lists members in the US and Canada
• The family doctor, who can refer to mental health support

NSGC is a professional association, not a certifying body. Its directory is not a referral service.

Section recap: GINA protects health coverage and most jobs in the US, but not life insurance. Canada’s law bans required gene tests for any contract, including insurance.

Frequently asked questions

Does a parent’s HCM mean a child will get it?

Not always. If the parent has a known variant, each child has a 50% chance of inheriting it. Even then, penetrance is incomplete. In one study, about 46 of 100 carriers developed HCM within 15 years. A cardiologist can plan screening.

Can a negative 23andMe result rule out HCM?

No. The standard 23andMe Health kit does not report HCM at all. The exome product reports some genes but not VUS. Most diagnosed people have no variant found. Heart scans remain the key check for relatives.

Can a positive HCM gene result affect health or life insurance?

In the US, GINA bars health insurers from using genetic information. It does not cover life, disability or long-term-care insurance. In Canada, no one can require test results for an insurance contract.

Can an employer find out about a gene result?

In the US, GINA Title II bars employers from using genetic information. It does not apply to employers with fewer than 15 employees. In Canada, sharing results without written consent is banned.

When is a second opinion worth considering?

A second opinion can help with a VUS, an old test report or a major treatment choice. ClinGen has reclassified several HCM genes since 2019. An HCM specialty center or a genetic counselor can review the report again.

Summary

• HCM affects about 1 in 500 people, and MYBPC3 and MYH7 are its most common genetic causes
• Each child of a carrier has a 50% chance of the variant, but not all carriers get HCM
• About 46 of 100 carriers with normal first scans developed HCM within 15 years in one study
• Standard consumer kits do not rule out HCM. Family heart scans stay essential
• Mavacamten and aficamten are approved for obstructive HCM, with echo checks and safety programs
• No drug is approved for nonobstructive HCM in the US or Canada
• GINA does not cover life insurance. Canada’s law covers insurance contracts

Unexplained fainting in a young person, or a family history of sudden death, needs prompt medical care.

This article is for educational purposes only. It does not replace diagnosis, treatment or genetic counseling. 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.

References

1. MedlinePlus Genetics, NIH/NLM. Nonsyndromic hypertrophic cardiomyopathy. https://medlineplus.gov/genetics/condition/nonsyndromic-hypertrophic-cardiomyopathy/
2. Hespe S, et al.; ClinGen. Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal. J Am Coll Cardiol. 2025. https://pubmed.ncbi.nlm.nih.gov/39971408/
3. Alfares AA, et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy. Genet Med. 2015. https://pubmed.ncbi.nlm.nih.gov/25611685/
4. Ho CY, et al. Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy (SHaRe). Circulation. 2018. https://pubmed.ncbi.nlm.nih.gov/30297972/
5. Lorenzini M, et al. Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers. J Am Coll Cardiol. 2020. https://pubmed.ncbi.nlm.nih.gov/32731933/
6. Ommen SR, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy. Circulation. 2024. https://pubmed.ncbi.nlm.nih.gov/38718139/
7. Lampert R, et al. Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy (LIVE-HCM). JAMA Cardiol. 2023. https://pubmed.ncbi.nlm.nih.gov/37195701/
8. Lee K, et al. ACMG SF v3.3 list for reporting of secondary findings. Genet Med. 2025. https://pubmed.ncbi.nlm.nih.gov/40568962/
9. 23andMe. Understand results: hereditary disease (clinician page). https://www.23andme.org/en-int/clinicians/understand-results/hereditary-disease/
10. Olivotto I, et al. Mavacamten for symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM). Lancet. 2020. https://pubmed.ncbi.nlm.nih.gov/32871100/
11. Maron MS, et al. Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy (SEQUOIA-HCM). N Engl J Med. 2024. https://pubmed.ncbi.nlm.nih.gov/38739079/
12. Garcia-Pavia P, et al. Aficamten or Metoprolol Monotherapy for Obstructive Hypertrophic Cardiomyopathy (MAPLE-HCM). N Engl J Med. 2025. https://pubmed.ncbi.nlm.nih.gov/40888697/
13. Masri A, et al. Aficamten for Symptomatic Nonobstructive Hypertrophic Cardiomyopathy (ACACIA-HCM). N Engl J Med. 2026. https://pubmed.ncbi.nlm.nih.gov/42663312/
14. U.S. FDA (Drugs@FDA) and Health Canada (Drug Product Database). Regulatory status of mavacamten and aficamten. https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&ApplNo=214998 and https://health-products.canada.ca/dpd-bdpp/info?lang=eng&code=102157
15. NHGRI. Genetic Discrimination; Justice Laws Website. Genetic Non-Discrimination Act (S.C. 2017, c. 3). https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination and https://laws-lois.justice.gc.ca/eng/acts/G-2.5/FullText.html

Last updated: 2026-10-29

Author: Yu Mizuno (Editor-in-Chief, non-physician), GeneLumen editorial team. This article aggregates 15 sources (tier 1=12 / tier 2=2 / tier 4=1). Sources include NIH MedlinePlus, ClinGen, the 2024 AHA/ACC guideline, ACMG, the FDA, Health Canada and NHGRI.

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.

Related: Genetic Diseases category

🇯🇵 For readers in Japan — a separate Japanese edition written for Japan’s healthcare system (not a translation): https://genelumen.com/ja/ja-genetic-diseases/hypertrophic-cardiomyopathy-genetics-ja