State of the Ecosystem

“The path toward an individualized therapy often begins with a diagnosis and a fundamental question: what, if anything, can be done? Today, stakeholders navigating this question must assess a complex and fragmented landscape—integrating variant eligibility assessment, gene–disease validity, natural history data, therapeutic window of opportunity, individual disease presentation and with that, potential benefit–risk—often relying on approaches that differ across institutions.

Our Focus

The N1C Patient Identification Workgroup is building consensus-driven frameworks to support systematic, transparent, and reproducible assessment of therapeutic tractability in individualized medicine. Through cross-sector collaboration, our group develops and refines shared criteria, tools, and reference resources to help the field align on when—and how—an individualized therapeutic approach may be appropriate. Our current efforts include:

• Developing patient identification frameworks and resources to guide researchers, clinicians, and genetic counselors in identifying patients eligible for individualized therapy development at either the variant or disease level, across different therapeutic modalities.
• Creating patient communication tools for patient-facing professionals to clearly and confidently address questions related to genetic medicines.
• Establishing genetic medicine road maps to help researchers and patient advocacy groups understand the requirements at each stage of the therapy development pipeline.
• Curating publicly accessible databases that support transparent identification of both eligible and non-eligible variants and therapies in development.

This approach enables systematic identification of patients who are appropriate candidates for intervention, while also ensuring that individuals for whom such strategies are not scientifically justified are not inappropriately directed toward unvalidated research pathways.