Journal article
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim Show all
JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2022
Abstract
Background Clinical exome sequencing typically achieves diagnostic yields of 30%–57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals. Aim We share the lessons learnt from the first 3 years of the Undiagnosed Diseases Program-Victoria, an Australian programme embedded within a clinical genetics service in the state of Victoria with a focus on paediatric rare diseases. Methods We enrolled families who remained without a diagnosis after clinical genomic (panel, exome or genome) sequencing between 2016 and 2018. We used family-based exome sequencing (family ES), family-based genome sequencing..
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Awarded by National Human Genome Research Institute
Awarded by National Heart, Lung, and Blood Institute Center for Mendelian Genomics
Funding Acknowledgements
Funding for sequencing and analysis was provided by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute Center for Mendelian Genomics (grant UM1 HG008900) and by the National Human Genome Research Institute (grant R01 HG009141). We acknowledge financial support from the Murdoch Children's Research Institute and the Harbig Foundation. Research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.