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Monogenic Testing for Heart Disease 

• What It Looks For:
  • Rare mutations in a single genethat cause inherited heart conditions.
• Examples of Monogenic Heart Conditions:
• Familial Hypercholesterolemia (FH):
• Caused by mutations in genes like LDLR, APOB, or PCSK9. This leads to very high cholesterollevels from a young age, increasing the risk of early heart disease.
• How It’s Used:
  • If someone has a family history of early heart diseaseor sudden cardiac death, monogenic testing can identify specific mutations. A positive test can guide early treatment (like cholesterol-lowering meds in FH) or lifestyle adjustments.

Polygenic Testing for Heart Disease 

• What It Looks For:
• Many genetic variants(often hundreds or thousands) that each have a small effect on heart disease risk.
• Example of Polygenic Influence:
• Common conditions like Coronary Artery Disease (CAD)are influenced by a mix of genes affecting cholesterol levels, blood pressure, inflammation, etc.
• A Polygenic Risk Score (PRS)sums up the impact of these genes to estimate your overall risk for heart disease.
• How It’s Used:
• Even if you don’t have a family historyor monogenic mutations, polygenic testing can help predict your risk. It’s useful for guiding lifestyle choices (diet, exercise) and might influence how aggressively doctors manage your cholesterol or blood pressure.

• Monogenic Testing can help identify rare but severe conditions early, potentially saving lives with early interventions (like statins or defibrillators). 

• Polygenic Testing helps predict risk for common heart disease, even when no clear family history exists. It can guide decisions on lifestyle, medication, or how often to monitor heart health.

Results classify a person’s risk as low, intermediate, or high according to quintiles. Low risk = results falling in quintile 1. Intermediate risk results falling in quintiles 2-4. High risk = results falling into quintile 5.

Yes. The CARDIO inCode-Score Polygenic Risk Score for CAD has been validated in more than 80,000 individuals of different population origins (Spanish, European Americans, Latin Americans, African Americans, and Asians). It has been shown to be independent of classical, clinical risk factors for CAD and contributes approximately 50% of the risk for a cardiovascular event.

No. The CARDIO inCode-Score Polygenic Risk Score for CAD does not include any SNPs known to drive risk for HLD. GENinCode provides a separate Polygenic Risk Score for High LDL (included on the LIPID inCode test) to assess risk for HLD. The SNPs included on this test are known to specifically contribute to risk for CAD, independent of HLD. As such, it is considered as applicable to assessing an individual’s genetic risk for CAD whether or not they have a personal history of HLD. The resulting risk has also been shown to be independent of other classical cardiovascular risk factors.

No. Monogenic variants in the APOE gene which are pathogenic, likely pathogenic, or variants of unknown clinical significance for FH or other dyslipidemias will be reported in the LIPID inCode report. SNPs in the APOE gene are also evaluated as part of the polygenic risk score for high LDL. The results of the polygenic risk score for high LDL are reported as both a numeric value and a decile, and the specific genotypes of the 12 SNPs analyzed are not listed in the patient’s result report. A person’s APOEallele status (E2, E3, or E4) is what is typically associated with dementia/Alzheimer’s risk. APOE allele status is not reported in LIPID inCode test results, as the objective of the test is related strictly to lipidemias and CAD risk.

Results classify a person’s risk as low, intermediate, or high according to deciles. Low risk = results falling in decile 1 or 2. Intermediate risk = results falling in deciles 3-8. High risk = results falling in deciles 9 or 10.

Yes. The Polygenic Risk Score for High LDL included on the LIPID inCode test has been validated and widely published on.

Results classify a person’s risk as low, intermediate, or high according to quintiles. Low risk = results falling in quintile 1. Intermediate risk results falling in quintiles 2-4. High risk = results falling into quintile 5.

Yes. The Polygenic Risk Score for CAD has been validated in more than 80,000 individuals of different population origins (Spanish, European Americans, Latin Americans, African Americans, and Asians). It has been shown to be independent of classical, clinical risk factors for CAD and contributes approximately 50% of the risk for a cardiovascular event.

No. There is no overlap between the two groups of SNPs used in the algorithm to calculate the two different Polygenic Risk Scores. The Polygenic Risk Score for CAD (also available as a stand-alone test, CARDIO inCode-Score) is assessed completely independently of hyperlipidemia. The resulting risk has also been shown to be independent of classical cardiovascular risk factors.