Life Sciences & Biotech
Recall-by-Genotype (RbG)
Accelerating life sciences research with genetics based recall and follow-up
Recall-by-Genotype is an innovative approach that utilizes genetic insights to identify and recall targeted at-risk populations. Built on our deeply curated Helix GenoSphere™ clinicogenomic records, Helix’s RbG solution enables life sciences to gain a better understanding of genotypic driven phenotypic responses in a wide range of therapeutic areas.
Driving a genotype first approach to drive precision medicine development across the lifecycle
Identifying and linking specific genetic variants to phenotypic responses in a diverse population is crucial for precision medicine development. It allows researchers to get the deep and consistent phenotyping needed to understand the real mechanism behind a promising genetic signal and move research forward. Helix utilizes deep genomic data from over >400k linked clinicogenomic records associated with targeted genes, variants, or genetic profiles to help researchers identify genetic factors associated with diseases, develop personalized medicine approaches, and advance understanding of human biology and genetics.
Precision Genomic Targeting
Identify and recall participants based on specific genotypes, variants, or genetic profiles with unparalleled accuracy and speed.
Faster re-contact and recruitment
Reduce screen-fail and shorten timelines with focused outreach on participants most likely to qualify with full consent for recontact
Built for life sciences
Enable biomarker and target validation, clinical trial recruitment, and rare disease cohorts from the same multi-site network protocol
How recall-by-genotype works
Build and define genetic & phenotypic criteria
Specify target genes, variants, inheritance model, or polygenic thresholds aligned to your study objectives.
Assess feasibility
Helix estimates cohort size and stratification options (e.g., ancestry, age, phenotype signals) to inform protocol design.
Recall and consent
Helix works with partners to initiate participant engagement and consent flows appropriate for required follow-up activities within the study parameters.
Collect data and generate evidence
Enable additional phenotyping, surveys, or clinical assessments, to analyze outcomes and study progression.
Example Use Case: Rare LoF target validation with a targeted population with limited screening
A major biopharma needs to evaluate phenotype impact for a sub‑1% loss-of-function variant associated with cardiometabolic conditions. The follow-up study would have been used to validate the rare LoF variant in the target population and how its impact on downstream phenotypic response. Traditional phenotypic based recruitment would have required broad screening of large populations and long timelines with high cost.