Healthcare organizations and researchers have long been imagining a day when the promise of precision medicine is realized—where we are able to detect the onset of disease at its earliest stages, screen for rare genetic markers, and maximize drug efficacy, while at the same time increasing the efficiency of the healthcare system and still improve quality, accessibility, and affordability.
Whole-genome sequencing and other omic technologies generate massive amounts of data. The sheer size of “omics” data makes finding genetic and molecular variants related to a disease a daunting task. When combined with clinical information, the problem of isolating an appropriate drug treatment plan becomes even more complex. The PHEMI Central Precision Medicine Edition can simplify and scale the problem of genetically-based medicine to better disease prevention and treatment.
With a solution based on the PHEMI Central Precision Medicine Edition healthcare organizations can realize visions in:
- Pharmacogenomics, integrating a rules base to help flag drug-gene interactions for drug safety, dose, and efficacy in cancer and other diseases.
- Precision medicine (personalized medicine), using whole genome or exome sequencing information to recommend a drug therapy for treatment and prevention of cancer, rare genetic diseases, and infectious diseases.
- Biomarker discovery, integrating and collaborating using de-identified genotype and phenotype information, including lab results and pathology reports, to find biomarkers pointing to novel clinically relevant disease subtypes with different prognoses and responses to therapy.
- Detecting, classifying, and understanding microbes, collecting microbiome data and comparing it against a library of known samples to study infectious diseases, methods of transmission, and drug resistance. High-throughput sequencing can help model the source of an outbreak, the strain involved, and the treatment plan.
- Disease screening and diagnosis, storing and analyzing diagnostic whole genome and exome sequencing data and lab information system logs for quality, research, and analytics purposes.
PHEMI Central Precision Medicine Edition eliminates the common bottlenecks associated with ingestion, annotation, and indexing of VCF and gVCF files, manages updates to reference databases and offers a sub-second query performance across the genotype and phenotype regardless of volume of data under management. It also controls rightful access to data and automatically enforces data sharing agreements. Consent directives can be explicitly linked to individual patient data and automatically enforced with fine-grained access control rules.
PHEMI Central aligns with appropriate privacy and security requirements, including Health Insurance Portability and Accountability Act (HIPAA) and Health Information Technology for Economic and Clinical Health (HITECH) Act as well as Canadian federal and provincial legislations.