AI-Driven Family/Pedigree Risk Prediction & Cascade Screening
Turning Family History into Future Prevention: How NonStop Automated Risk Prediction and Cascade Screening
NonStop helped a leading genetic counseling network use AI to predict familial risk, prioritize cascade testing, and automate outreach, making family-based screening more accurate, efficient, and equitable.
The Challenge
Identifying at-risk relatives after a positive genetic finding remains one of the biggest bottlenecks in preventive genomics.Traditionally, genetic counselors rely on manual spreadsheets, family histories, and email trails to determine who in a family should be contacted for cascade testing.
This manual process is slow, error-prone, and often incomplete, resulting in missed relatives, delayed outreach, and inconsistent tracking.
The organization needed a way to:
- Quantify relative-level genetic risk based on the proband's findings and family pedigree.
- Prioritize and automate family outreach with personalized, patient-friendly communication.
- Track cascade uptake and sync results back to LIS/EHR systems.
The Approach
From Family Trees to Data-Driven Precision
NonStop partnered with the client's genetic counseling and bioinformatics teams to build an AI-driven Family & Pedigree Risk Prediction Platform, a system that transforms static family trees into dynamic, intelligent, and actionable health networks.The goal: to make cascade screening scalable, explainable, and patient-centric by automating what was once manual and fragmented.NonStop partnered with the client's bioinformatics and clinical genomics teams to design and deploy an AI-assisted interpretation and report generation platform, built to unify evidence, automate logic, and simplify review without compromising quality or compliance.
Our goal: to make every variant review faster, traceable, and explainable so that technology accelerates human expertise, not replaces it.
Pedigree Capture & Graph Store
We built a pedigree graph database that represents each family member as a node and relationships as edges. The system captures structured pedigree data (GEDCOM/JSON or directly via NonStop's Pedigree Builder), enriched with phenotypes, test statuses, and clinical annotations. This living graph forms the foundation for all downstream solutions.
Risk Inference Engine
Developed a Bayesian and Mendelian risk computation engine that models inheritance patterns, zygosity, and penetrance assumptions to predict relative-level risk tiers.
This engine continuously learns from clinical outcomes, improving prediction precision over time.
Phenotype-Genotype Matcher
Built an HPO-based phenotype-genotype alignment model that compares reported family phenotypes against known variant effects, flagging inconsistencies and refining individual risk scores.
LLM Communication Generator
Using generative AI, we created a communication module that drafts patient-friendly invitation letters and counselor summaries.
Each message adjusts tone, literacy level, and language complexity automatically ensuring clarity and empathy in every outreach.
Outreach & Tracking Module
Integrated with CRM, SMS, and email APIs, this module automates cascade invitations, consent requests, and follow-ups.
Each action is tracked from message delivery to test scheduling, providing complete transparency into cascade uptake.
Counselor Dashboard
We designed a visual family heat-map that highlights risk tiers across the family tree.
Counselors can see who's been contacted, who's responded, and what the next-best-action is for each family member.
It’s the command center that turns family data into coordinated, proactive care.
Security, Compliance & Reliability by Design
Because family-level data involves extended PHI and consent boundaries, NonStop embedded privacy safeguards into every layer:
PHI-aware graph database deployed in private subnets
Pseudonymization for all outreach exports
Consent and opt-in management for family communications
Tamper-evident audit trails for every message and action
The Impact
What Changed in Practice
Cascade testing participation increased as outreach became structured and easier to coordinate
Counselor administrative workload dropped significantly, reducing repetitive follow-ups and manual tracking
Communication became consistent across families, regardless of language or health literacy
Outreach and follow-ups became automated, traceable, and audit-ready
Genetic counselors now spend more time on meaningful conversations and less on spreadsheets.
Patients and relatives receive personalized, understandable communication, improving trust, engagement, and testing rates.
Why It Matters
Cascade screening saves lives but only if families are identified, informed, and engaged.
This solution proved that AI can make family risk management both scientifically rigorous and deeply human.
By combining:
Bayesian risk modeling
HPO-driven phenotype alignment,
Generative AI for patient communication
Secure outreach automation
NonStop created a bridge between precision medicine and preventive action, ensuring that no at-risk relative is overlooked.
