Work

Diagnostic Lag in Precision Medicine

Year: 2026

Type: article

Abstract: Pooling functionally distinct variant classes within a single gene can mislead treatment inference.Using PTPN11 and growth hormone therapy in Noonan spectrum disorders, this Perspective shows that functionally divergent variants, including gain-offunction, loss-of-function, and dominant-negative classes, may coexist within gene-defined cohorts, influencing treatment initiation, monitoring, discontinuation, and long-term outcome summaries independent of pharmacodynamic response.Minimum stratified reporting of functional class, subgroup size, baseline risk, exposure, discontinuation, and endpoints could improve interpretability, safety assessment, and therapeutic decision-making.

Source: Clinical Pharmacology & Therapeutics

DOI: 10.1002/cpt.70443

Author: Petr Heneberg

Institution: Charles University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,410