Clinical Applications & Innovations
New Genomic and Clinical Interpretation Capabilities Leading to New Products
Rainbow Genomics constantly develops new genetic analysis technologies and clinical applications
By working with our clinical partners and their platforms, we developed the following new products and genetic analysis technologies
Pediatric Diagnostic Testing
Whole Genome Sequencing
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High Resolution Microarray
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RNA Sequencing
Pediatric diagnostic testing for a wide range of rare diseases, complex neurological disorders, and developmental conditions:
Whole Genome Sequencing and High-Resolution Microarray
Transcriptome and Sanger Sequencing
Determine single nucleotide variants, copy number variants, intronic and mosaic mutations, large structural variants and gene expressions associated with specific genes and splice variants
For the Pediatric Exome Health Screening Test, which is based on the BabySeq project implemented at the Boston Children’s Hospital and Harvard Medical School, we co-developed an additional gene panel of approximately 200 genes with Fabric Genomics and clinical specialists in Asia.
The panel includes the latest genes annotated for childhood-onset disorders. Our total interpretation menu now includes over 1600 genes associated with over 1000 childhood-onset genetic disorders.
Autism Spectrum Disorder
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Co-Occurring Conditions
Whole Genome Sequencing
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RNA Sequencing
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High-Resolution Microarray
We are one of the first commercial testing laboratories to offer a combination of whole genome, RNA, and Sanger sequencing, coupled with high-resolution microarray testing (at 1.6Kb resolution), to determine challenging mutations associated with autism spectrum disorder and co-occurring conditions, in less than two months.
Co-Occurring Conditions
Over the last 10 years, large-scale genetic research has shown that autism spectrum disorder is caused by multiple genes and environmental factors. Plus, the disorder is often accompanied with overlapping disease conditions.
It is often difficult to distinguish which genes are conferring deleterious impacts associated with the common autism symptoms. For example, mutations in the UBE3A gene are associated with autism, but also with Angelman syndrome, a condition that is distinct from autism. However, children affected by Angelman syndrome show similar autistic symptoms such as movement and speech abnormalities, and physicians could misdiagnose the patients as affected by autism.
Spontaneous Genetic Mutations
A recent large-scale study using whole genome sequencing data estimated that spontaneous genetic mutations, also known as de novo mutations, “contribute to 52%-67% of autism arising from low-risk families (with one child affected), and 30%-39% of cases of all autism” (Communications Biology. 2021, 4:1026).
These spontaneous, de novo mutations occurred with the child, and are not inherited from the parents
Rainbow whole genome sequencing test is designed to detect these complex de novo mutations, including intronic, splice site and mosaic mutations, which are challenging to determine.
Curated Gene List – Rainbow also curated over 1000 newly-reported autism genes with associated annotations to enable complex CNV and de novo mutation analysis in these novel autism genes.
Copy Number Variants (CNVs)
Copy Number Variants are submicroscopic structural changes in chromosomes that include duplications, deletions, translocations, and inversions. Based on recent worldwide autism research, including studies in Asia, CNVs are important contributing factors in autism susceptibility. Whole genome sequencing with confirmation by RNA and Sanger sequencing, and high-resolution microarray (1.6Kb resolution) testing, allows for the determination of these small- and multi-gene CNVs.
Detecting Challenging Mutations Associated With Autism
To confirm autism and co-occurring conditions, accurate determination of pathogenic mutations in a large number of genes harboring difficult-to-detect gene variations is critical. Rainbow’s multi-genomic testing approach is unique because it enables simultaneous detections of multiple types of genetic mutations from the whole genome, resulted in rapid clarification of the genetic cause associated with the underlying disorder.
Challenging mutations include
Copy number variants (CNVs), including intragenic and multi-gene CNVs
Intronic mutations, including deep intronic variants
Mosaic mutations, including mosaic CNVs
Splice site variants
Our technology platforms include whole genome, RNA, Sanger, long-read sequencing, high-resolution microarray and high-density DNA array genotyping, to determine challenging mutations.
Proteomics + Genomics
Proteomic Testing
Whole Genome Sequencing
20 000 genes
3 billion Base-Pair
7000 Proteins
Comprehensive Heart Attack Risk Modeling
Based on 7000-Protein Testing and Whole Genome Sequencing Test
Lifetime Risk
10-year Risk
4-Year Risk
Predict First and Second Heart Attack
Cardiac Mortality Predictor
Mortality Prediction After Acute Heart Attack
Early-Onset Heart Attack Prediction
5 Year Lung Cancer Risk Prediction
Hereditary Cancer Testing
Large Genomic Rearrangement sequencing
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Whole Genome Sequencing
We provide a “Dual Sequencing Approach”, with 30-hereditary-cancer-gene “Large Genomic Rearrangement” sequencing, coupled with whole exome sequencing:
Determine single nucleotide variants and indels by both sequencing methods
Determine large genomic rearrangements, also known as copy number variants by high-density-probe-based, intron-exon CNV sequencing
Determine novel gene mutations not previously reported in any international databases, using whole genome sequencing
Targeting over 100 cancer genes for extensive analysis
Working with Baylor Genetics’ clinical team, Rainbow co-developed a gene list with over 100 genes for screening of most known hereditary cancer gene variants. Combined with whole exome sequencing, this is the most comprehensive hereditary cancer screening test available to individuals with or without symptoms or family history.
Determine Ethnic-Specific-Polygenic Scores to better estimate lifetime cancer risks
Rainbow also adopts the use of SNP (Single Nucleotide Polymorphism) markers for risk assessment of seven common cancers.
We are among the first to provide both hereditary cancer risk (5 to over 20 times higher risk compared to non-carriers) and common cancer risk (1.3 to 3 times higher risk compared to non-carriers) to motivate individuals to improve their life style/follow screening guidelines.
Rainbow Psycho-Pharmacogenomic Testing
“Point-of-Prescription” Real-Time Physician Support System
Enabling physicians to improve outcomes of treatment-resistant or treatment-intolerant patients. By combining experience-based evidence with genomic-based drug response and adverse drug reaction profiles, psychiatrists can make informed decisions on choosing alternative medications.
Our test enables physicians to combine drug efficacy data and patient tolerance profiles to rapidly select alternative psychiatric medications - achieved by simultaneous reduction in drug trial and error, and minimization of medication side effects.
The Rainbow Pharmacogenomic test covers 100 alleles, including copy number variants (CNVs), in 27 genes specific to Asians, Caucasians, and mixed-race populations. Over 180 drugs are covered by the test.
Our “Point-of-Prescription” Physician Support System enables doctors with no prior pharmacogenomic experience to quickly determine alternative medications in real time. The system also provides evidence of drug-drug interactions to improve prescriptions for patients who are taking multiple drugs simultaneously.
Cardio & Heart Health Testing
Whole Genome Sequencing
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Copy Number Variant Sequencing
We provide a “Dual Sequencing Approach”, with 30-cardio-gene copy number variant sequencing, coupled with whole genome sequencing:
Determine single nucleotide variants and indels by both sequencing methods
Determine copy number variants by intron-exon CNV sequencing
Determine novel gene mutations not previously reported in any international databases, using whole exome sequencing
Targeting over 100 cardio genes for extensive analysis
By working with the team at UCLA’s Clinical Genomic Center, Rainbow co-developed a cardio gene list with over 100 genes that targets monogenic cardiovascular diseases and muscular dystrophy disorders. These genes are included in our exome sequencing test clinical interpretation process.
Improve clinical outcome prediction and cancer prognosis
RNA Sequencing & Deep Exome Sequencing of Matched Normal-Tumor Pairs Determines Variants that Drive Tumor Progression
Whole exome analysis comprehensively characterizes tumor driver and germline mutations, using tumor and matching normal samples, respectively
RNA sequencing identifies gene expression signatures and mutational profiles at the transcriptome level
Pinpoints variants that regulate cancer gene expressions
Profiles gene fusions arising from chromosomal translocations
This approach is complementary to routine tumor genomic profile testing by providing additional therapy candidates and clinical outcome predictions