Rainbow Adult Screening Exome Test


Introduction

Over 5000 genetic disorders are known, and many more, including over 6000 conditions are reported within various clinical and bioinformatics databases.  With clinical whole exome sequencing covering over 22,000 genes, we comprehensively screen for pathogenic mutations associated with these disorders.  

Unlike many "recreational" or "direct-to-consumer" genetic tests that report hundreds of findings with questionable or no clinical utilities, our whole exome sequencing approach reports pathogenic (and likely-pathogenic) mutations that are supported by clear medical evidence and are clinically-actionable.  That is, your physician can develop screening and prevention strategy to manage the disease risk.  Plus, our genetic counselors will provide consultation to help you understand the health and psychological implications.


Rainbow Adult Screening Exome Sequencing Test

The Rainbow Adult Screening Exome Sequencing Test provides clinically- actionable results:

  • Your Health - Your risk of developing genetic disorders in the future.

  • Your Reproductive Health - Your risk of passing on genetic disorders to your children.

  • Your Drug Response to over 350 medications

  • Heart Attack and Ischemic Stroke Risk

  • Your personal, one-hour, bilingual genetic counseling session included!

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


Test Descriptions

Your Health

 
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This test screens over 22,000 genes from the entire exome, to determine your risk of developing a genetic disorder, which includes cancers, heart diseases, certain neurological disorders and numerous Mendelian and monogenic diseases.

Over 5,000 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 22,000 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 Exome Sequencing test examines over 22,000 genes from the exome. We substantially reduces the risk of not testing genes that are specifically associated with Asian patients.

Note that this test cannot determine the carrier status of Fragile X, Spinal Muscular Atrophy (SMN) and Thalassaemias (HBA). 


Your Drug Response to over 340 Medications

Rainbow Genomics works closely with OneOme (Minneapolis, MN, U.S,) to provide comprehensive, clinically- actionable pharmacogenomic test to patients and physicians - The OneOme RightMed pharmacogenomic test.

Co-developed and exclusively licensed with Mayo Clinic (Rochester, MN, U.S.), OneOme provides a comprehensive solution that determines how patients' genes may affect their response to over 340 medications.  OneOme analyzes a patient’s genetic information and provides a validated clinical report to the physician and patient.

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.

Data analysis and clinical interpretation will be provided by Baylor Genetics to determine a genetic cause of your symptoms. This analysis covers mutations associated with pathogenic and likely-pathogenic variants, as well as variants of uncertain clinical significance.

The result is included as part of the physician report issued by a U.S. board-certified medical director from Baylor Genetics. 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 Heart Attack & Ischemic Stroke Risk

Myocardial Infarction (Heart Attack).  A heart attack occurs when the flow of blood to the heart is blocked, most often by a build-up of fat, cholesterol and other substances, which forms a plaque in the coronary arteries. The interrupted blood flow can damage the heart muscle. A heart attack, also called a myocardial infarction (MI), can be fatal.

Both environmental and genetic factors contribute to the risk of having a heart attack. The MI Risk Assessment Test determines the genotypes of two risk markers located at chromosome 9p21. These two single nucleotide polymorphisms, or SNPs, associate with increased risks for development of MI and coronary heart disease. The risk associations have been replicated in over 20 populations with over 20,000 myocardial infarction patients and 40,000 controls, including over 5000 Chinese, Japanese, Koreans and other East Asian patients.

Atrial Fibrillation (Ischemic Stroke) is an irregular and often rapid heart rate that can increase your risk of stroke, heart failure and other heart-related complications. Episodes of atrial fibrillation can lead to blood clots forming in the heart that may circulate to other organs and lead to blocked blood flow (ischemia).

A study of 471,446 Chinese individuals over 11 years, showed that the prevalence of atrial fibrillation (AF) increased 20 folds. The lifetime risk was approximately one in five among Chinese. The AF Risk Assessment Test determines the genotypes of two risk markers located at chromosome 4q25 near transcription factor PITX2.

In numerous studies with over 10,000 patients and 30,000 controls, the 4q25 risk association has been confirmed in Caucasian, Japanese, Chinese and Korean populations.

Clinical interpretation is provided by the Rainbow's clinical team in Japan.


Your Genetic Counseling Session

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Genetic Counseling for Patients.  Rainbow Genomics provides a variety of bilingual-genetic counseling services to our patients, in Mandarin, Cantonese, Japanese and English. Included with our tests, Baylor College of Medicine's Consultagene program delivers email-, phone- or video-conferencing-based genetic counseling to each patient. U.S.-certified genetic counselors from Baylor College of Medicine will provide the services to ensure high quality and effective patient support. 

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. Baylor Genetics' board-certified genetic counselors will provide email-based consultation to physicians. For clinicians who desire in-depth discussions of a patient's case, Baylor College of Medicine Consultagene program provides a peer-to-peer consultation, an one-hour, video-conferencing delivered directly by Baylor's physicians. The ordering clinician, their collaborators and associated health care providers are all welcome to participate.


How It Works

 
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The process starts with a physician office visit at a Rainbow-authorized clinic. The clinician will order the test for the patient.

Your DNA sample will be sequenced at a CAP-accredited or CLIA-certified laboratory. 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.

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?

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 Exome Sequencing test may be right for you if -

  • You are healthy and would like to understand your future risk of developing genetic 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 disorder to your children

  • You would like to understand your drug response to over 340 medications

This test may not be right for you if -

  • You already have severe symptoms and you would like to determine the genetic cause.

    • For example, you have already been diagnosed with cancer. You and your physician would like to determine the genetic etiology of the cancer, that is, if the cancer is familial in nature ( a hereditary form of cancer). In this case, you should consider ordering the Rainbow High-Risk Cancer test.

  • You and your physician are looking for an exhaustive diagnostic genetic test.

    • For example, if your child is suffering from muscular dystrophy symptoms and your physician would like to determine a genetic cause. You should consider ordering the Rainbow Pediatric Care test which will analyze the entire 22,000 genes of your child's exome to determine causative mutations.


Physician Order Required