GENETIC TESTING PROGRAMS

Identification of patients through genetic testing programs. We create and manage genetic testing programs including securing a test provider, development of test format and criteria, requisition forms, consent forms, data accessibility and interpretation.

genetic interpretation

We interpret data and test results from all types of genetic tests: panel, exome, whole genome studies, CGH and RNASeq.

VETTING Variants of uncertain significance

Delivering definitive answers for genetic variants of uncertainty: bioinformatically and functionally.

biochemical testing programs

Identification of patients through biochemical testing programs. We create and manage testing programs including development of test format and criteria, requisition forms, consent forms, data processing, accessibility and interpretation.

Biomarker ASSAY assessment & development

Metabolomic and biochemical assays. Assessment of currently available biomarkers for your disease of interest, their specificity and availability. Development of biomarker assays.

drug market size assessment

Using population genetics, bioinformatics and disease natural history we estimate disease incidence and prevalence to determine the size of the market for your drug. Our clients use this to inform decision-making on drug manufacturing, staffing and FDA labeling.

diagnostic MARKET capability and optimization

Assessment of the number of individuals expected to have your disease of interest and the mechanisms by which those patients come to diagnosis. We have an array of strategies for optimization of the diagnostic reservoir.

patient registries & portals for patient reported outcomes

We create and manage registries for patients and providers. This can include website creation for patients/providers to independently access registries and integration of patient reported outcomes.

PUBLICATION strategies

Identification of mission-critical clinical, diagnostic and research findings and the competitive landscape for development of communication paths to the relevant communities.