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Semin Thromb Hemost 2024; 50(07): 1039-1046
DOI: 10.1055/s-0044-1786756
Historical Commentary

The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice

Kishore R. Kumar
1   Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School, University of Sydney, Concord, NSW, Australia
2   Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
3   School of Clinical Medicine, UNSW Sydney, Randwick, NSW, Australia
,
Mark J. Cowley
3   School of Clinical Medicine, UNSW Sydney, Randwick, NSW, Australia
4   Children's Cancer Institute, UNSW Sydney, Randwick, NSW, Australia
,
Ryan L. Davis
2   Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
5   Neurogenetics Research Group, Kolling Institute, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, St Leonards, NSW, Australia
› Author Affiliations Funding K.R.K was a NHMRC Early Career Fellow and currently receives funding from the Paul Ainsworth Family Foundation and Medical Research Future Fund (MRFF Grants 2023126, 2023357, 2024888, and 2018639).
M.J.C was supported by a NSW Health Early-Mid Career Fellowship, the Medical Research Future Fund (MRFF) Emerging Priorities, and Consumer-Driven Research initiative, as well as the grant 1165556 from the Priority-driven Collaborative Cancer Research Scheme, co-funded by Cancer Australia and My Room. M.J.C also acknowledges the Luminesce Alliance—Innovation for Children's Health, a not for-profit cooperative joint venture between the Sydney Children's Hospitals Network, the Children's Medical Research Institute, and the Children's Cancer Institute, established with the support of the NSW Government and affiliated with the University of Sydney and the University of New South Wales.
R.L.D was a NSW Health Early-Mid Career Fellow and is currently supported by grants from Aligning Science Across Parkinson's/Michael J. Fox Foundation, NSW Health, and the Medical Research Future Fund (Grants 2007959 and 2024888).
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Five years on from our award-winning review on Next-generation sequencing and emerging technologies,[1] a rapid pace of fundamental advances has markedly altered the landscape of sequencing capability. Technological, methodological, and analytical innovations are driving practice advances in both the research and clinical spaces, often at breakneck speeds. Some of the current challenges are to keep pace with technology, implement and update standardized and validated practices in a timely manner, perform representative and diverse population-scale studies, and rapidly translate the advanced understanding of pathological drivers to provide optimal policy, practice, provision, care, and outcomes.



Publication History

Article published online:
11 May 2024

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