Clinical Sequencing's Ups and Downs Around the World

National Human Genome Research Institute. The big picture. www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genome-project

Nurk S. , Koren S. , Rhie A. , et al. The complete sequence of a human genome. Science, 376(6588):44–53 (2022).

Stark Z. , Dolman L. , Manolio T. , et al. Integrating genomics into healthcare: a global responsibility. Am J Hum Genet, 104(1):13–20 (2019).

Phillips K.A. , Douglas M.P. , Wordsworth S. , et al. Availability and funding of clinical genomic sequencing globally. BMJ Glob Health, 6(2):e004415 (2021).

Phillips K.A. , Douglas M.P. , Wordsworth S. , et al. Expanding use of clinical genome sequencing and the need for more data on implementation. JAMA, 324(20):2029–2030 (2020).

NICUSeq Study Group. Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial. JAMA Pediatr, 175(12):1218–1226 (2021).

The 100,000 Genomes Project Pilot Investigators. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. N Engl J Med, 385:1868–1880 (2021).

Genomics England. Newborn genomes programme. files.genomicsengland.co.uk/documents/Newborns-Vision-Final_SEP_2021-11-02-122418_jjne.pdf

Callaway E. Norway to bring cancer-gene tests to the clinic. Nature (2012). https://doi.org/10.1038/nature.2012.9949

OECD/European Observatory on Health Systems and Policies (2021), Estonia: Country Health Profile 2021, State of Health in the EU, OECD Publishing, Paris/Europe an Observatory on Health Systems and Policies, Brussels.

Vrijenhoek T. , Tonisson N. , Kääriäinen H . et al. Clinical genetics in transition—a com parison of genetic services in Estonia, Finland, and the Netherlands. J Community Genet, 12(2):277–290 (2021).

France Genomic Medicine Plan 2025. www.filieresmaladiesrares.fr/plan-france-medecine-genomique-2025/

Sheinson D.M. , Wong W.B. , Meyer C.S. , et al. Trends in use of next-generation sequencing in patients with solid tumors by race and ethnicity after implementation of the Medicare National Coverage Determination. JAMA Netw Open, 4(12): e2138219 (2021).

Austin-Tse C.A. , Jobanoputra V. , Perry D.L. , et al. Best practices for the interpreta tion and reporting of clinical whole genome sequencing. NPJ Genom Med, 7, article 27 (2022).

Wickland D.P. , Sherman M.E. , Radisky D.C. , et al. Lower exome sequencing cover age of ancestrally African patients in The Cancer Genome Atlas. J Natl Cancer Inst, 114(8):1192–1199 (2022).