Real World Data Services
Our clinical database from over 2.5 million consented genetic tests offers curated real world evidence to advance drug discovery and development.
Unrivaled Insights and Interpretation to Understand Disease
Pharmaceutical companies need carefully validated knowledge of real-world disease characteristics to optimize clinical trials and therapeutic development. Ambry filters out the noise inherent in raw datasets with in-house expert variant classification and verification by certified genetic counselors to deliver clinical insights needed to help partners with drug discovery, pipeline decisions, and trial design.
Data curated with over 25 years of experience in clinical genetic testing, variant classification, and disease-gene association comes through in the tailored services available to pharma partners, including:
- Data triggers/weekly alerts
- Patient journey mapping
- Data tokenization and linking\
Results and insights from over 2.5 million germline tests span therapeutic areas and test types, all provided with consent:
- >12,000 with clinical diagnostic exome sequencing
- >9,000 with chromosomal microarray
- >700,000 with pan-cancer germline panels
- >14,000 with pan-cardiology germline panels
Contextualize Results with Multi-Dimensional Data
Comprehensive test order, demographic, and clinical datasets are available to help you fully map real world patient populations:
Test Order and Demographic Data
- Panel type and genes tested
- Institution and provider level details
- Patient sex, age, ethnicity, geography
Clinical Data
- Detailed clinical history for probands
- Family history included
- ICD-10
- Extracted with consent from detailed medical records, by clinically trained genetic counselors
Deepen Discovery with Exome Sequencing and Microarray Results
Exome sequencing and chromosomal microarray (CMA) tests are available to offer genomic insights, to help you identify and validate therapeutic targets:
Exome Sequencing
- Primary findings data for proband
- Secondary findings (ACMG) for proband and family members
- Trio testing (uncharacterized gene analysis) and segregation data on majority of cases
Chromosomal Microarray
- Proband reportable findings including:
- Copy number variant classification
- Type
- Size
- Gene content
- Chromosomal location