Increases Diagnostic Yield

The ability to analyze over 22,000 genes eliminates the limitations of the interpreting only a few or even hundreds of genes using many conventional genetic tests.  

Many patients, especially those in pediatric care, have gone through multiple genetic and biochemical testing without a positive diagnosis. It has been widely demonstrated that exome sequencing, by analyzing over 22,000 genes simultaneously, can produce relatively-high diagnostic yield that ends diagnostic odyssey. A positive diagnosis can immediately help physicians to implement treatment and monitoring programs.

Reference

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016, 91(3):297-307.

Fully-Integrated Testing

Our genetic tests are based on clinical exome sequencing technology. This next-generation sequencing process is performed at CAP-accredited or CLIA-certified laboratories. To assure highly accurate test results, clinical interpretation is performed by the University of California, Los Angeles (UCLA) Clinical Genomics Center, and Baylor Genetics, both are among the largest and oldest genetic testing laboratories in the US.

In addition, some of the test results will also be analyzed by genome medicine specialists at the Juntendo University in Japan, to assure accurate diagnosis based on the most-up-to-date understanding of Asian genetics.

Pharmacogenomics tests are performed by OneOme, a company established by Invenshure and Mayo Clinic.

ACMG Incidental Findings

Included with our exome sequencing test is the reporting of ACMG incidental findings, which include breast cancer, Lynch syndrome (colon cancer), cardiomyopathy, arrhythmia and other conditions. These are findings supported by pathogenic or likely pathogenic variants (based on ACMG interpretation guideline) from 59 genes, that may or may not be related to the patient’s primary conditions. Adult patients can choose to receive these findings, or “opt out” of learning about these findings.

References

• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine. (2013) 15, 565–574
• ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genetics in Medicine (2014) 17, 68–69.
• The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience. Genet Med. 2014 October ; 16(10): 741–750.

Rainbow Pediatric Care™ Whole Exome Sequencing Test

Test Descriptions

• Clinical whole exome or whole genome sequencing is performed at a U.S. CAP-accredited and CLIA-certified Laboratory

• First-round clinical interpretation is performed by U.S. board-certified clinical geneticists at Fabric Genomics (California, USA)

• Additional, "double" clinical interpretation is performed by the medical team at the Center for Intractable Disease Research at Japan's Juntendo University Medical School (Tokyo)

• Clinical report (English) is issued by a medical director at Juntendo University

• Rainbow Genomics also provides a supplementary clinical report in Chinese with written genetic counselor summary

• Clinical report includes variants of uncertain clinical significance (VUS) and pathogenic variants

• Optional: If whole genome sequencing is used, a copy number variation (CNV) report can also be ordered by the physician. The report content is similar to that obtained from Clinical Microarray (CMA) testing

• Optional trio sequencing available - de novo mutations will be reported using trio analysis 

Double Clinical Interpretation for Asians.  To provide highest quality interpretation for Asian patients, some of the test results with unusual Asian genetic variations may also be analyzed by genome medicine specialists at Juntendo University in Japan.  

The medical team at the Juntendo University have many years of experience providing genetic testing to Asian patients. More importantly, our Japanese bioinformaticians and clinicians are trained to provide clinical interpretation specifically for Asian patients including Chinese and Japanese individuals.

Is This Test Right For You?

If you or your family members already have symptoms of Mendelian or monogenic disorders, medical experts recommend genetic testing for you.

These tests may be suitable for patients who have had evaluations consisting of microarray-based, single-gene or panel-based genetic tests without identifying an etiology or obtaining a diagnosis.

Physicians may prefer to order clinical exome sequencing early in the patient's evaluation to expedite a possible diagnosis, without going through time-consuming biochemical, microarray-based, single-gene or panel-based genetic testing.

Physician Order Required

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Introduction

Cancer genetic predisposition is a genetic variation typically inherited from a patient's parent, and increases the likelihood of developing a cancer. Certain mutations can greatly increase the risk of developing cancers while others may have much smaller effects. For example, mutations in cancer predisposition genes are associated with 3% to 5% of breast and colorectal cancers, and as much as 15% of ovarian cancer.

Exome sequencing test can determine if a patient has increased risk of multiple types of cancers. This increased risk can often be managed by monitoring, preventive medication or even prophylactic surgery. Family members of an individual who carries a pathogenic cancer mutation may also consider testing to clarify their own risk.  

Determination of a familial cancer (germline) mutation in a cancer predisposition gene may guide treatment of the cancer patient.   For examples, oncologists may consider colectomy for colorectal cancer and Lynch syndrome patients, or PARP inhibitor as treatment for an ovarian cancer patient with a BRCA1/2 mutation, or elimination of  radiation in a breast cancer patient with a TP53 mutation. (see ASCO web resource below for more information)  

Baylor Genetics. This test was developed in collaboration with Baylor Genetics, the genetic laboratory associated with Baylor College of Medicine. Baylor is one of the oldest and largest genetic testing and medical institutions in the U.S., and is a leader in cancer screening and diagnosis.

Rainbow High-Risk Cancer™ Test

Three-in-One Test

This test can be used for both clinical diagnostic and multi-cancer screening purposes.

Diagnostic test.  Based on patient's family histories or symptoms, the Baylor team will perform comprehensive analysis of over 22,000 genes from patient's exome, to determine causative genetic variations associated with patient's symptoms. Clinical interpretation focuses on pathogenic- & likely-pathogenic variants, and variants of uncertain clinical significance

Screening test.  In addition, the test simultaneously screens for genetic variations in 118 genes, covering 20 types of cancers, including breast, ovarian, lung, colorectal, prostate, gastric and pancreatic cancers. 

Pharmacogenomics Test.  The OneOme RightMed test provides your drug response profile on over 340 medications, including over 40 onocology medications.

Test Descriptions

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.  Data will be analyzed and clinically interpreted under ACMG guidelines by Baylor Genetics, and a physician report will be issued by a Baylor Genetics board-certified medical director.

Optional report on ACMG incidental findings. Patients can choose to receive ACMG incidental findings, which include cardiomyopathy, arrythymia, and other conditions.  

Whole exome sequencing may identify genetic variants that are unrelated to the clinical condition tested (incidental findings). These “secondary” findings may be beneficial in managing additional health conditions not anticipated by the patients or their physicians. ACMG issued guidelines on reporting genetic variations on 59 genes. These genes were determined to be “medically actionable” on disease conditions that may be manageable or even preventable. 

Is This Test Right For You?

Even if you have a cancer-predisposing mutation, or such mutation exists in your family, it does not necessarily mean that you will develop cancer. According to the U.S. National Cancer Institute, if one of the following conditions applies to you, the Rainbow High-Risk Cancer test may be right for you -

• You already have cancer symptoms
• You have a personal or family history that suggests an inherited cancer risk condition
• You have several close relatives with the same type of cancer
• The presence of birth defects, such as certain benign skin growths or skeletal abnormalities, that are known to be associated with inherited cancer syndromes
• Cancer that has developed in paired organs, such as both kidneys or both breasts
• Several different types of cancer that have occurred independently in the same person
• Cancer that was diagnosed at an unusually young age
• Specific cancer type such as male breast cancer

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.