Rapid gene sequencing

Grader A: hit

In Flatiron data, NGS testing in advanced NSCLC rose from 5% (2012-13) to 35% (2018-19); rapid genome sequencing also used in NICUs. Above 5% by 2020.

Test: D37 health: share of relevant patients, providers or procedures using it by 2022 (hit >=5%; partial <5% real use by 2022 or 5% in 2023-2025; miss no real use by 2025); relevant: patients with indicated cancers or genetic disease

• Changes over time in real-world NGS test use in patients with advanced NSCLC (2020): NGS testing 5% to 35% of advanced NSCLC patients, 2012-2019

Grader B: hit

In a US cohort of 63,294 patients, NGS after metastatic diagnosis in 2021 reached 34.5% (breast) to 62.9% (colorectal) and 61.4% in advanced NSCLC; NGS-based prenatal cfDNA screening and rapid NICU genome sequencing are also routine. Far above 5% by 2022.

Test: D37 health: >=5% of relevant patients (e.g. advanced cancer, rare disease, prenatal screening) receive sequencing-based diagnosis by 2022 = hit.

• Next-Generation Sequencing Trends among Adult Patients with Select Advanced Tumor Types: A Real-World Evidence Evaluation (J Mol Diagn) (2024): 2021: NGS received by 34.5-62.9% of US patients with select metastatic tumours.