A connected investigation that keeps learning.
The sequence adapts to the case. Each result should refine the clinical picture, challenge an explanation or guide a meaningful next decision.
Listen and reconstruct the story
Bring together the person’s goals, family observations and records across years and specialties. Preserve where each finding came from and when it happened.
Build a deep, evolving phenotype
Map symptoms, signs, examinations, laboratory and blood tests, radiology, pathology, functional testing and treatment responses. Keep important normal or absent findings, timing, episodes, contradictions and gaps.
Connect genetics with the clinical picture
Interpret whole genome information, when appropriate, against the phenotype, family history and clinical course. Combine it with current biomedical literature and disease datasets; uncertain or negative results remain part of the investigation.
Rank explanations that can be tested
Our MD/PhD research hub uses AI-assisted analysis to compare diagnoses and biological mechanisms, with physicians guiding clinical interpretation. Ask which explanation fits, what conflicts with it, and what evidence can change the conclusion.
Choose the next best step
Prioritize a test or assessment by the question it answers, its ability to distinguish hypotheses, and whether the result could change care. Consider the burden, limitations and value of the information.
Work backward from the biology
For a suspected pathway or mechanism, identify the findings it should produce and the measurements that could challenge it. Use those predictions to guide targeted investigation and clinically justified treatment questions.
Evaluate the individual response
Where appropriate, design a supervised N-of-1 treatment evaluation with a baseline, comparison periods when suitable, and predefined measures of benefit and harm. Specify how results guide continuation, change or stopping.
Reassess and refine the plan
Bring each result back into the case. Update the phenotype, reconsider hypotheses and tailor the next step to what has been learned and what matters in daily life.