Congenica
Streamlining Diagnosis of Rare Diseases

The ever-increasing number of patients affected by rare diseases is drawing a critical challenge for the healthcare ecosystem to provide an early and accurate diagnosis of such diseases. Owing to the limited awareness, these chronically debilitating rare diseases–which often hide behind common illness symptoms at an early stage–are difficult for patients and clinics to detect. Congenica caters to an improved understanding of rare diseases, which is the key for accurate and timely diagnosis. A provider of the diagnostic decision support platform, the company, enables clinicians to interrogate the human genomes for identifying disease-causing variants.

With over 25 years of experience in diagnostics and healthcare businesses, Dr. David Atkins, the CEO of Congenica efficiently guides the company in diagnosing inherited diseases by analyzing patient-derived genomic data. The expert team at Congenica infuses with their knowledge into the interpretation technology platform to provide genome sequencing and variant interpretation that facilitate faster diagnoses and better clinical management and support. While offering substantive sequencing, annotation, analysis, and clinical report that are scalable from single patient testing to supporting national testing programs, the company is also pioneering genome based medicines.

Congenica has been proactively addressing to genome sequencing that is a costly and complex process in the healthcare industry while tackling hurdles in the routine to conduct the genomic investigation.

In one instance, Congenica has helped Genomics England, a company set up and owned by the UK Department of Health to run the 100,000 Genomes Project—a flagship project that sequenced 100,000 whole genomes from NHS patients with rare disease and their families and common cancers. With their routine conduct of the genomic investigation, Congenica detects complex mutations, expertly filters clinically relevant variants and deep clinical phenotyping, combined with the outcomes-focused organization of data, secure storage, and intuitive functionality to integrate, interrogate and share the data.

Congenica enables the patients and clinical professionals to make an informed decision about a disease, which is prerequisite for a correct diagnosis. Moreover, it has the potential for healthcare savings as it avoids unnecessary appointments, tests, and interventions. Congenica is dedicated to improving healthcare by delivering the gold-standard clinical genomics analysis platform, Sapientia. The platform provides an accurate and timely diagnosis to improve care for people and their families with rare diseases. An intuitive platform, Sapientia enables clinicians to progress through cases more quickly, by aiding the routine diagnostic workflow. This workflow helps the clinicians to optimize the throughput of patients as well as outrun patients with a possible diagnosis. Approximately 10,000 genomes during 100,000 Genomes Project have extensively validated the platform. The company has used its platform for clinical analysis and genomic interrogation, to generate comprehensive, actionable clinical reports.

Sapientia allows doctors around the world to diagnose the un-diagnosable. The platform uses genetics-based risk factors in patient cohorts that are used in diagnostics and pharmaceutical drug discovery, as well as in clinical trials design. This single secured platform has all the resources necessary to enable clinicians and scientists to make informed medical decisions. “The challenge that we face is to convince clinical centers that are looking to adopt genomic medicine to use an “off the shelf ” product to help them analyze and interpret a patient’s genomic sequence,” quotes Atkins.

With radically transforming genomics, Congenica is committed to raising awareness on rare disease symptoms and diagnosis through their expertise and world-class solution. The company aspires to revolutionize personalized patient care through accurate diagnoses, curation of evolving knowledge bases, and support in clinical trials and drug development, demonstrating their innovations, expertise, and leadership.