A variety of opportunities are available to the clinical researcher, including access to individual patient’s genomic data for ordering clinicians with a research interest, and de-identified aggregated genomic data for clinicians with research interest in specific disease states. Read on to learn more.
Underlying exome data transitioned to research use
Our partnership with WuXi-NextCODE allows us to transfer patient-derived genomic information to ordering providers, via a HIPAA-compliant production instance; we can also deliver clinical exomes in BAM and VCF formats for clinical researchers who prefer those formats. Case studies have shown the value of delivering data to clinical researchers.
Case Study: Changing patient care by opening up the underlying whole exome
A patient at Boston Children’s Hospital, a young adult, had suffered from seizures for more than 16 years. The patient’s neurologist ordered Claritas’ Pediatric Neurology Exome, a test that investigated 614 genes for variants in genes related to pediatric neurology conditions. Once clinical analysis of the 614 genes was completed, Claritas transferred the underlying whole exome data, which was analyzed by researchers in the neurology department at Boston Children’s Hospital. The team investigation revealed a variant in a gene with recently-recognized clinical significance that met the criteria for clinical classification as ‘likely pathogenic’. Claritas confirmed the existence of this variant in parental samples. The BCH care team changed the treatment for the patient, removing contraindicated medications as a result. Without the partnership between the ordering providers, Claritas Genomics, and WuXi-NextCODE, this important discovery might not have been made.
Research Opportunities for the Patient and Family
Claritas Genomics and Genetic Alliance have partnered to help patients and families find and participate in relevant research opportunities that will advance understanding of individual genetic disorders and development of new disease management tools. In this partnership, Claritas, in collaboration with patient advocacy organizations, uses the Platform for Engaging Everyone Responsibly (PEER), created by the Genetic Alliance and Private Access, to connect the patient’s genetic test and exome results to their clinical information and enable families to share information between the clinical and research environments, all the while keeping the families’ interests at the forefront. This allows direct participant connections including recruitment, enrollment for specific investigations and self-reported data collection.
Using the PEER system, patients receiving Claritas clinical testing services can choose what information to share with relevant research initiatives, and receive individualized relevant findings.