About

About PhenoTips > Welcome to PhenoTips! PhenoTips is the trusted digital backbone for clinical genetics programs, providing the software infrastructure to scale precision medicine from rare disease diagnosis to population-scale genomic initiatives. Deployed at leading academic health centers, hospitals, and research institutions around the world, PhenoTips empowers genetics professionals with intuitive tools for family history capture, clinical phenotyping, and genomics data management—all in one secure, interoperable platform. > PhenoTips enables clinical genetics teams to digitize and scale their workflow through: + Pedigree Drawing & Family History Intake: Capture structured, multi-generational pedigrees with dynamic tools that align with ACMG and HPO standards. + Clinical Phenotyping: Document patient phenotypes using structured HPO terminology, enabling downstream integration with genomic analysis tools and databases. + Pre-Visit Patient Questionnaires (PPQs): Collect family and personal health information prior to clinic visits, reducing in-clinic data entry time and improving diagnostic efficiency. + Cancer Risk Assessments: Complete CANRISK assessments within the platform with a few clicks saving time and reducing administrative burnout. + Integration-Ready Architecture: Built with HL7v2 and FHIR APIs, PhenoTips integrates seamlessly with major EHRs, including Epic and Cerner. > Driving Outcomes in Rare Disease, Oncology, and Preventive Genomics PhenoTips supports a range of clinical applications from diagnosing rare Mendelian disorders to mainstreaming hereditary cancer risk assessment. By equipping genetic counselors, medical geneticists, oncologists, and research coordinators with shared, centralized tools, PhenoTips increases care team collaboration and reduces time to diagnosis. Institutions using PhenoTips report significant operational gains, including reductions in manual data entry, improved patient experience through digital intake, and increased volume of cases. The platform supports initiatives focused on equitable access to genomic services and research participation through rich phenotype and family history capture. > Accelerating the Future of Genomic Medicine At PhenoTips, we believe that genetic and genomic data should be usable, actionable, and accessible to all providers, not just specialists. Our mission is to empower clinical teams to deliver genomic medicine at scale, from rare disease diagnosis to population health screening. Whether you’re building a new genetics program or modernizing an existing clinic, PhenoTips provides the technology foundation to streamline your workflow and unlock the full potential of genomic data.