Howell Katherine B, White Susan M, McTague Amy, D'Gama Alissa M, Costain Gregory, Poduri Annapurna, Scheffer Ingrid E, Chau Vann, Smith Lindsay D, Stephenson Sarah E M, Wojcik Monica, Davidson Andrew, Sebire Neil, Sliz Piotr, Beggs Alan H, Chitty Lyn S, Cohn Ronald D, Marshall Christian R, Andrews Nancy C, North Kathryn N, Cross J Helen, Christodoulou John, Scherer Stephen W
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Royal Children's Hospital, Melbourne, VIC, Australia.
NPJ Genom Med. 2025 Feb 27;10(1):13. doi: 10.1038/s41525-025-00474-8.
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine translates to improved outcomes. Here, we discuss the challenges in advancing precision child health and highlight how international collaborations such as the International Precision Child Health Partnership, which embed research into clinical care, can maximize benefits for children globally.
基因组技术的进步彻底改变了罕见遗传病的诊断方式，催生了精准疗法。然而，要确保精准医学的前景转化为更好的治疗效果，仍有大量工作要做。在此，我们讨论推进精准儿童健康所面临的挑战，并强调诸如国际精准儿童健康伙伴关系这样将研究融入临床护理的国际合作如何能够为全球儿童带来最大利益。
