Introduction

According to American Heart Association 2015 statistics, about one-third of adults will develop a heart condition. Specifically, cardiovascular disease is the leading cause of death among Asians (including ethnic Chinese & Japanese) in Hong Kong and Japan.

Clinically-validated genetic testing leading to a confirmed diagnosis is a powerful tool to manage hereditary cardiovascular disease risks. Health management plans including treatment, remote-monitoring and prevention strategies may be implemented following a diagnosis.

In addition, genetic risks are independent of other clinical factors such as LDL, BMI, blood pressure, etc., and are complementary to traditional clinical factors, allowing physicians to improve the accuracy of life-time risk calculations.

Rainbow Cardio™ Test

Comprehensive testing of most hereditary cardiovascular disease conditions in one test. The Rainbow Cardio™ test is a whole exome sequencing test covering 22,000 genes.  We specifically analyzes over 200 genes, representing 23 hereditary cardiovascular diseases and RASopathy conditions. Our results cover most diseases typically tested by physicians to determine cardiovascular genetic risks, including:

  • Familial Hypercholesterolemia (FH)
  • Hypertrophic cardiomyopathy (HCM)
  • Dilated cardiomyopathy (DCM)
  • Sudden Cardiac Arrest (SCA)
  • Long QT syndrome (LQTS) & Short QT syndrome (SQTS)
  • Pulmonary Arterial Hypertension
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Common genetic risks of myocardial infarction (MI) and atrial fibrillation (AF)

Test Descriptions

Rainbow Cardio™ clinical exome sequencing services provide comprehensive testing of 23 cardiovascular disease, muscular dystrophy and RASopathy conditions.  

The process starts with a physician office visit at a Rainbow-authorized clinic. The clinician will order the test for the patient. Clinical whole exome sequencing at mean 100X-150X coverage is performed at CAP-accredited or CLIA-certified laboratories. Clinical interpretation is performed by the University of California, Los Angeles (UCLA) Clinical Genomics Center under ACMG guidelines. Some of the test results with unusual Asian genetic variations may also be analyzed by genome medicine specialists at the Saitama Medical or Juntendo University in Japan.

Sanger Sequencing.  An additional Sanger sequencing test will be preformed to determine population-based, common-genetic risks for myocardial infarction and atrial fibrillation, based on 4 SNPs. Interpretation is provided by the genome medicine team at Rainbow Genomics. Population-based genetic risks are independent of family history and clinical factors such as BMI, age, LDL level, etc., providing additional evidence to guide physicians developing prevention strategies.

Optional report on ACMG incidental findings. Patients can choose to receive ACMG incidental findings, which include breast cancer, Lynch syndrome (colon cancer), and other conditions.

OneOme RightMed Test Included

"Understand your drug response to over 340 medications"

"Including over 30 cardiovascular drugs"

During the office visit, your physician will also collect your DNA sample through a simple cheek swab for the OneOme RightMed® pharmacogenomic test. The sample will be sent to OneOme's CAP-accredited and CLIA-certified clinical testing laboratory. The OneOme clinical team will perform the testing, analysis and issue a clinical test report.

Is This Test Right For You?

If you or your family member already have symptoms of hereditary cardiovascular diseases, medical experts recommend genetic testing for you. A positive diagnosis could inform your doctor to consider changing your medical care, including monitoring or more aggressive care management by a cardiologist.

With a positive diagnosis, there is a significant chance that your children, brothers and sisters may also have the same genetic variations. Your family members may consider to be tested to confirm their own genetic risks. Any family members who also carry these genetic variants are considered to have elevated risks, and should be examined by a physician or cardiologist.

References

Guidelines

Clinical Utilities

AF & MI Risk Assessment

Physician Order Required