The present invention relates to an
artificial intelligence–driven platform designed for comprehensive
genetic counseling, hereditary
cancer risk assessment, and automated pedigree analysis. The invention integrates
genomic data, clinical features, and multigenerational family history through advanced
data modeling and
machine learning algorithms to enable precise, scalable, and evidence-based genetic consultation. Traditional
genetic counseling processes are labor-intensive, requiring manual pedigree construction and subjective evaluation of variant
pathogenicity and familial inheritance. These limitations result in delayed
risk stratification and inconsistent preventive recommendations. The disclosed platform overcomes these shortcomings by introducing an intelligent, interoperable
system that automates the acquisition, normalization, and interpretation of heterogeneous genetic and clinical data to deliver real-time, individualized counseling outcomes. The
system comprises five primary modules: (1) a
data acquisition module, (2) a
data processing and
inference engine, (3) a pedigree generation and
visualization unit, (4) a counseling and recommendation module, and (5) a secure cloud-based
user interface. The
data acquisition module receives and harmonizes multi-source inputs including
genomic sequencing results, variant
annotation files (such as VCF or BAM formats),
patient demographics, electronic health records (EHRs), and family
medical history collected via structured questionnaires or
natural language processing (NLP) of unstructured clinical notes. The
processing engine employs supervised and unsupervised
machine-
learning models trained on large-scale, anonymized datasets of hereditary
cancer syndromes, enabling the prediction of
gene-level
pathogenicity, inheritance mode, and personalized
disease susceptibility. The AI model calculates individualized hereditary risk scores, integrating polygenic risk factors and family aggregation
metrics. The pedigree generation module automatically constructs interactive multigenerational family trees, highlighting affected members, carriers, and probable inheritance patterns using graph-based
inference algorithms. This
visualization facilitates intuitive understanding of familial transmission, carrier probability, and
consanguinity. The counseling module translates computed risk profiles into actionable, evidence-based recommendations, aligned with international clinical guidelines such as NCCN, ACMG, and ESMO. These outputs include suggestions for confirmatory genetic tests, early
screening programs, lifestyle modifications, and targeted preventive interventions. Reports are automatically generated for both clinicians and patients, promoting consistent and reproducible
genetic counseling. The
user interface operates as a secure, GDPR- and HIPAA- compliant digital platform accessible via web or API integration with hospital information systems. In certain embodiments, the platform supports
federated learning across multiple institutions or countries, ensuring model improvement without direct
data sharing, thereby preserving patient privacy and data sovereignty. In one embodiment, the
system is validated across data cohorts from at least eight countries to ensure cross-
population generalizability of its predictive models. The platform's
modular design allows integration with additional AI-based
oncology tools,
digital pathology systems, and
precision medicine workflows. Overall, the invention provides a robust and scalable technological infrastructure that transforms genetic counseling from a manual, expert-dependent process into a data-driven, automated, and globally interoperable service. By combining AI-based analytics, dynamic pedigree
visualization, and standardized preventive guidance, the invention significantly enhances the accuracy,
accessibility, and cost-effectiveness of hereditary
cancer risk management.