Harmonizing standards and resources for the medical genome. Nature 2026 Jul;655(8121):47-58
Date
07/02/2026Pubmed ID
42387168DOI
10.1038/s41586-026-10621-5Scopus ID
2-s2.0-105043678598 (requires institutional sign-in at Scopus site)Abstract
Realizing the promise of precision medicine will require the highest standards of accuracy in genome sequencing and analysis. Here we describe challenges and opportunities for the field through the lens of genome data quality. We present recommendations in the context of specific areas of application for genomic sequencing in which isolated standards have arisen: germline sequencing, tumour sequencing, cell-free DNA testing, and sequencing for quality control in genetic therapy. Despite these distinct clinical contexts, technical challenges are often similar; for example, accurately detecting low-frequency genetic variants in tumour sequencing or gene-edited cells. We call for increased synchronization among these communities to establish new medical genome standards that promote confidence in genomic diagnostics and genetic therapies in a time of rapid technology-driven change. We suggest practical approaches for implementing these genome standards across contexts, and identify key areas that require further development.
Author List
Ashley EA, Alizadeh AA, Armitage H, Bhatt AS, Blumenfeld Y, Carroll A, Chavez RM, Giannikopoulos P, Grove ME, Halley MC, Khush K, Lennon NJ, Maragh S, Marson A, Paten B, Phillippy AM, Porteus MH, Rehm HL, Ringeisen BR, Salzman J, Schneider VA, Sedlazeck FJ, Steinmetz LM, Urnov FD, Wyman SK, Zook JM, Minor LB, Doudna JAAuthor
Meghan C. Halley PhD, BA, MPH Assistant Professor in the Institute for Health and Humanity department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Genome, HumanGenomics
Humans
Neoplasms
Precision Medicine
Quality Control
Sequence Analysis, DNA
