Rainbow Adult 8000™

Whole Genome Sequencing & 7000-Protein Proteomic Test

Diagnosis of Adult Unexplained Abnormalities. Reduce Misdiagnoses

7000 Protein Analysis Determines imminent Heart Attack, Stroke, Diabetic, Dementia and Lung Cancer Risk

Support Early Interventions to Prevent Adult Premature Mortality 

Improve Lifestyle Based on Your Own Genetics - Better Diets, More Effective Exercise, Faster Weight Loss. Prevent Nutritional Deficiencies. Enrich Foods that improve brain, heart, liver, kidney and lung health.

Introduction

Age-related chronic diseases account for the majority of adult premature mortality. Cancers and cardiovascular disorders represent over half of the causes of premature death for both males and females 50-75 years of age, with diabetes, respiratory, neurological and liver diseases accounting for the majority of the remaining deaths.

Most of the adult chronic diseases are asymptomatic at onset, and are often reported as unexplained abnormalities by routine health examination. Although environmental factors and lifestyles affect the onset of these diseases, many of these disorders are associated with genetic causes.

Adult unexplained abnormalities caused by genetic disorders are difficult to diagnose using standard-of-care procedures because their symptoms often overlap with other common disorders, and some individuals who carry the pathogenic mutations develop the disease while others do not.  

Monogenic and Polygenic Assessment for Patients Affected by Unexplained Symptoms

The genetic risk of developing these chronic or unexplained disorders can be monogenic (caused by a mutation in a single gene) or polygenic (conferred by variations from multiple genes). Whole genome sequencing coupled with comprehensive clinical assessment can provide relatively high diagnostic success in determining these monogenic and polygenic disease causes.

The approach may be useful in diagnosing unexplained but persistent symptoms such as pains, headaches, heart palpitations, repeated infections, paralysis, numbness, and tingling, etc. When test results for these symptoms are all normal, considerations of genetic testing may be warranted.

Determine 4-Year Heart Attack, 5-Year Lung Cancer & 20-Year Dementia Risk with Proteomic Testing

Quantitative analysis, coupled with proteomic modeling of circulating proteins associated with pathogenesis of cardiovascular disease, predicts the absolute likelihood of myocardial infarction, stroke, hospitalization for heart failure, and all-cause death within 4 years.

  • 14 of the proteins tested are positively correlated with risk, and 13 are negatively correlated. Average contribution of each protein ranged from 1 to 23%. The method was tested with a cohort of 11,609 individuals in the U.S. The findings were subsequently replicated in a Japanese cohort.

  • The test also determines second heart attack risk, and VO2Max, a cardiac mortality predictor.

Determine 5-year Lung Cancer and 20-year Dementia Risk with Proteomic Testing

The proteomic testing determines 5-Year lung cancer risk. Polygenic and monogenic analysis of the genomic data also determine lifetime dementia and other neurodegenerative disorder risk specific to Asians. Combining these genetic and proteomic risks together with other risk factors such as a family history, etc. a more accurate prediction of dementia risk may be achieved.

Determine 10-year Dementia Risk with Proteomic Testing

The proteomic testing also determines 20-Year dementia risk. Polygenic analysis of the genomic data also determine lifetime lung cancer risk specific to Asians. Combining these genetic and proteomic risks together with lifestyle risk factors such as smoking, a more accurate prediction of lung cancer risk may be achieved.

Clinical Deep Phenotyping

To diagnose and treat a wide-range of unexplained illnesses, the first step is “Deep Phenotyping”. The comprehensive clinical assessment of unexplained impairments, organ-specific abnormalities, and family histories along with laboratory testing are performed by physicians who specialize in genomic medicine prior to genetic testing. The systematic collection of these clinical symptoms (phenotypes) substantially affects the likelihood of a successful genomic analysis leading to a confirmation of genetic causes.

Rainbow Adult 8000™ Screening Whole Genome Sequencing Test

Using whole genome sequencing, the entire human genome is analyzed, covering over five million monogenic mutations and polygenic variants, associated with over 7000 monogenic disorders and multiple common diseases. Coupled with deep phenotyping, the test substantially improves the diagnosis of adult debilitating disorders.

The Rainbow Adult Screening Whole Genome Sequencing Test provides medically-actionable results in five clinical reports:

Personal Health Assessment

  • This test determines your risk of developing genetic disorders in the future. Over 7000 genetic disorders are currently known. We determine pathogenic variants associated with these monogenic disorders using 20,000 genes and mutations located in the intergenic areas from your genome. Conditions screened include hereditary breast, ovarian, uterine, stomach, pancreatic, prostate & colorectal cancers, cardiomyopathy, arrhythmia, and familial hypercholesterolemia.

  • Includes

    • Cancers

    • Cardiovascular Disorders

    • Endocrine System Abnormality including Diabetes and Fatty Liver

    • Sleep Disorders

    • Hearing and Eye Disorders

    • Skeletal and Bone Disorders

    • Immune System Disorders

    • Skin Abnormality

    • Auto-inflammatory Disorders

    • Behavioral Abnormality

    • Neurological Disorders including Dementia and Alzheimer Disease

    • ACMG Secondary Findings

Reproductive Health Assessment

  • Male Infertility

  • Female Infertility

  • Maternal Spontaneous Abortion

Whole Genome Carrier Status

  • This test determines your risk of passing on genetic disorders to your children. This is an genome-wide carrier status screening of over 1300 recessive disorders

  • Includes

    • Carrier Screening Analysis of Disorders Recommended by the American College of Obstetricians and Gynecologists and the American College of Medical Genetics

    • Whole Genome Carrier Analysis - Mutations in 2500 genes associated with recessive disorders that can be passed on to the patient's children

Common Disease Risk Assessment

  • This test reports risk of developing multiple common complex diseases, including - lung cancer, liver cancer, bladder cancer, thyroid cancer, esophageal cancer, testicular cancer, heart attack, stroke, hypertension, diabetes, rheumatoid arthritis, asthma, osteoporosis, glaucoma, macular degeneration, Parkinson's and Alzheimer's disease

    • Common complex diseases such as diabetes, heart attack, and stroke are primarily caused by changes in multiple gene variants (polygenic risks). However, these variants are highly ethnic-specific. Polygenic risk assessment for ethnic-specific groups such as Asians is difficult because very few publications using Asian patients and healthy controls with statistical significance are available.

    • Rainbow Genomics’ expert-curated polygenic variants are highly ethnic-specific, and are supported by large-scale genome wide association and replication studies using tens of thousands of patients and controls collectively from Asia, U.S. and European countries. 

Pharmacogenomic Assessment of 185 Medications to Improve Clinical Outcome

  • We provide pharmacogenomic test reports with lack of efficacy, adverse drug reactions, risk of toxicity and drug-drug interactions for 185 drugs

    • For chronic disorders, achieving risk-reduction targets through improving medication adherence is critical.  

    • Pharmacogenomic assessment enables high therapeutic efficacy through minimization of drug side effects, resulting in better treatment outcome.

By delivering clinically- actionable results, we enable your physicians to provide prevention strategies and personalized care for you.

Proteomic Testing

Quantitatively Analyzes 7000 Proteins

A.) 3-Year Heart Attack Risk Determination

  • Quantitative analysis, coupled with proteomic modeling of at least 27 circulating proteins associated with pathogenesis of cardiovascular diseases, predicts the absolute likelihood of myocardial infarction, stroke, hospitalization for heart failure, and all-cause death within 3 years.

  • 14 of the proteins tested are positively correlated with risk, and 13 are negatively correlated. Average contribution of each protein ranged from 1 to 23%.

  • The method was tested with a cohort of 11,609 individuals in the U.S. The findings were subsequently replicated in a Japanese cohort. This test stratifies patients into 4 risk categories.

  • Only about half of the patients in the high risk group are associated with event-free survival after 4 years.

    The test also determines second heart attack risk, and VO2Max, a cardiac mortality predictor.

B.) 5-Year Lung Cancer Risk Determination

  • This test determines 5-year lung cancer risk.

  • After combining with lifestyle risk factors such as smoking, and polygenic risks of lung cancer specific to Asians, the predictive power of a comprehensive lung cancer risk determination may be improved.

C) 20-Year Dementia Risk Determination

  • This test determines 20-year dementia risk.

  • After combining with polygenic risks of dementia and multiple neuro-degenerative disorders, and monogenic risk factors such as those conferred by APOE mutations, the predictive power of a comprehensive dementia risk determination may be improved.

D) Determines Fatty Liver And Impaired Glucose Tolerance.

  • This test also determine two risk factors that can increase the risk of cardiometabolic disorders.

Test Descriptions

Your Health

 

This test screens over 20,000 genes from the entire genome, plus intergenic mutations from the whole genome, to determine your risk of developing a genetic disorder, which includes cancers, heart diseases, certain neurological disorders and numerous Mendelian and monogenic diseases.

Over 7,000 genetic disorders are known. Most of them are rare disorders. However, certain heart diseases and cancers have well-understood genetic associations. For example, about 5% of breast and colon cancers are known to be caused by genetics. Also, 1 out of 500 individuals carry mutations associated with cardiomyopathy.

This test determines the pathogenic and likely-pathogenic variants associated with genetic disorders. These are variants that have been reported in the scientific literature and are expected to increase the risk of developing a disorder.

Carrying a pathogenic mutation does not necessarily indicate that you will develop the disorder. The positive result can enable your physician to develop appropriate prevention strategy to mange your risk.  

Your Reproductive Health

This test, similar to carrier testing, screens over 20,000 genes to determined pathogenic mutations associated with recessive disorders that can be passed on to your children.

Carrier screening determines if you may carry a genetic mutation that could cause a serious inherited disorder in your baby. Over 1,300 carrier status conditions are known. Many of these conditions are rare. And many of these conditions will not be detected by routine prenatal tests.

Because these disorders are recessive, a baby must inherit a genetic variant from each parent to have the disease. If both parents are carriers, their child will have a 1 in 4 chance to be born with the disease.

Unlike many gene-panel test (includes 1-200 genes) developed by U.S. and European companies based on research using Caucasian patients, which may not include sufficient Asian genes, the Adult Screening Whole Genome Sequencing test examines over 20,000 genes from the genome. We substantially reduces the risk of not testing genes that are specifically associated with Asian patients.

Note that this test may not determine the carrier status of Fragile X, Spinal Muscular Atrophy (SMN) and Alpha- Thalassemia (HBA). A separate test will be added if gene variants associated with these two disorders are to be determined (additional but nominal fee).

Your Drug Response to over 185 Medications

Imprecise medication can cause delay of effective treatment, re-hospitalization, adverse events, and increased mortality. Recent U.S. studies have shown that response rates for many drugs are only between 50-75%. Also, adverse drug reactions are the 4th leading cause of death annually in the U.S. The test aims to reduce adverse drug reactions, increase drug effectiveness and prevent unintended interactions between drugs.

  • Comprehensive. Includes 22+ genes, 350+ common medications, and 28 medical conditions

  • Credible. Uses clinical evidence curated with Mayo Clinic from FDA label information, Clinical Pharmacogenetics Implementation Consortium, and other professional guidelines and scientific studies

Genetic Testing for Your Symptoms

If you currently have a family history, or symptoms of a condition that may have a genetic origin, your physician may order this test.

Bilingual genetic counseling provided by U.S. certified genetic counselors is included. In addition, we also provide physician consultation. This is provided by U.S. board-certified physician specialists through live-video-conferencing sessions.

Your Genetic Counseling Session

Genetic Counseling for Patients.  Rainbow Genomics provides a variety of bilingual-genetic counseling services to our patients, in Mandarin, Cantonese, Japanese and English.

Physician Consultation:  Peer-to-Peer Discussions.  Rainbow Genomics also delivers two levels of support for ordering physicians to enhance their ability to provide the best care to their patients.

How It Works

 
 

The process starts with a physician office visit at a Rainbow-authorized clinic. “Deep Phenotyping” including comprehensive clinical assessment and laboratory testing will be performed. Based on the assessment results, the physician may order the whole genome sequencing test for the patient.

Your DNA sample will be processed at a U.S. CAP-accredited or CLIA-certified laboratory.

  • Rainbow's Triple Clinical Interpretation Analysis will be performed

  • Duplication, insertion, deletion and single-nucleotide variants will be analyzed

  • Using whole genome sequencing data, copy number and structural variant, mosaic and intronic mutation analysis will be included.

Additional Options:

  • 1.6Kb High-Resolution Clinical Microarray and Repeat Expansion Testing

  • RNA & Long Read Sequencing

  • Microbiome Analysis

  • Rapid turnaround time

Is This Test Right For You?

Even if you have genetic mutations, or such mutation exists in your family, it does not necessarily mean that you will develop genetic disorders. Counseling by a certified genetic counselor is critical for you to understand the implications of carrying certain genetic variants.

The Rainbow Adult Screening Whole Genome Sequencing test may be right for you if -

  • You have unexplained illnesses and multiple testing did not provide a definitive diagnosis

  • You are healthy and would like to understand your future risk of developing certain debilitating disorders including hereditary cancers and heart diseases

  • You are planning to have children and would like to understand your risk of passing on a genetic mutation to your children that may cause severe childhood-onset disorders

  • You would like to understand your drug responses to over 185 medications

This test is not for pediatric patients -

  • If your child is suffering from symptoms suspected to be associated with a genetic disorder, and your physician would like to determine a genetic cause, you should consider the Rainbow Pedi 1000™ Whole Genome Test to determine causative mutations.

We provide free referrals to physicians with substantial clinical genetic experience for pre- and post-test consultation.