Our Purpose
Our goal is to radically change the field of pediatric genomic medicine by enabling the integration of genomics into clinical practice to inform, guide and improve medical treatment for kids around the world. As a result, we are more than a genetic testing laboratory. By combining the clinical expertise of the world’s best pediatric specialists with innovative patient-centric solutions to bioinformatics, reporting, and collaborative data sharing, we believe we will not only improve patient care, but also enable new discoveries to advance the field. We call this 21st Century approach to genomic medicine The Claritas Experience.
Answers in Weeks, Not Years
Most patients believe that a diagnostic test will quickly yield a clear answer to explain what’s wrong and how to treat their condition. However, for the 30 million Americans and their families with rare and complex genetic diseases, this is typically not the case. According to surveyed families, this is a painful diagnostic odyssey; it may take 7 to 12 years for a patient to receive the proper diagnosis. This lengthy care journey from first symptoms to diagnosis is characterized by high levels of emotional stress, numerous misdiagnoses, and conflicting medical opinions. The average patient visits four primary care doctors and four specialists and receives two to three misdiagnoses. Because a majority of rare diseases are genetic in origin, they significantly affect the pediatric population.
The Claritas approach to testing was developed to serve children affected with complex genetic disorders by providing timely and accurate diagnoses, resolving families’ long search for answers. We have shown that The Claritas Experience can reduce the diagnostic odyssey for some patients to weeks, not years.
The Orthogonal ApproachTM
The Claritas Experience encompasses a unique approach to clinical-grade next generation sequencing for pediatric disorders based on our philosophy that a comprehensive platform is the best way to address the fast pace of scientific development in the field of genetics. With this in mind, we developed a novel series of clinical assays that combine the flexibility of whole exome sequencing with the rigor of deep and focused analysis of variants associated with specific clinical presentations.
No other commercial offering provides this level of comprehensiveness or flexibility for patients needing rapid and personalized diagnoses for guiding medical decision making.
Our Orthogonal Approach is a unique process for performing exome sequencing: Claritas uses two separate and independent methods to sequence the patient’s DNA and capture a whole exome. This maximizes coverage of potentially pathogenic variants and provides immediate confirmation of variants for a rapid turnaround. No other commercial offering provides this level of comprehensiveness or flexibility for patients needing rapid and personalized diagnoses for guiding medical decision making.
The Unified Approach
Through its partnerships and collaborations, Claritas has built an end-to-end system that incorporates best-in-class features from our partners. Our tests are conceived and developed in collaboration with the foremost clinical experts in pediatric medicine at Boston Children’s Hospital and Cincinnati Children’s Hospital. Through the integration of market-leading sequencing platforms from Illumina and Life Technologies with Cerner’s laboratory operations, analysis and reporting solutions, we perform diagnostic testing designed to provide pediatric patients and their families with answers in weeks. With our partner WuXi-NextCODE, we have built the infrastructure, tools, and connectivity needed to bring patient information to the investigators who can use the information individually to care for a specific patient and in aggregate to discover correlations that lead to enhanced clinical trial design and new treatment development.
Claritas partners with Genetic Alliance to help families and caregivers find and participate in relevant research opportunities that will advance the understanding of genetic disorders, help organize clinical interventions, and the development of new therapies. We are also implementing the Platform for Engaging Everyone Responsibly (PEER) with the Genetic Alliance and Private Access to facilitate the sharing of individual genetic data for research and discovery purposes while keeping data privacy and the families’ interests at the forefront.
The world’s leading organization devoted to promoting optimal health care for individuals and families suffering from genetic disorders.
WuXi-NextCODE as the engine for Claritas tests
The WuXi-NextCODE solution offers access to a full range of sophisticated data analysis, interpretation, and extensive data mining services. Developed in Iceland on the world’s largest collection of whole-genome data and now used by the leading precision medicine institutions in the US, Europe and Asia, WuXi-NextCODE’s system mines, manages and interprets more genomes than any other.
That robustness is the foundation upon which one system is built that both generates actionable genetic data and employs genetic information directly in large-scale research – a critical nexus for patients with rare conditions that often are not well understood.
Claritas uses the WuXi-NextCODE solution for its unrivalled range of data analysis, interpretation, and data mining capabilities. These integrate powerful de novo mutation detection algorithms, allele frequency filters and mode-of-inheritance models, backed by WuXi-NextCODE’s clinical knowledgebase – built on 350,000 whole genomes.
An important benefit of the WuXi-NextCODE system is that its unique database model enables – for the first time – cross-institutional and international collaboration using large sequence data sets in real time and at raw resolution. This places Claritas at the heart of a global network of rare disease clinicians and experts, optimizing diagnostic yield and the sharing of best practices to our patients and partners worldwide.
