ArticleThe Lancet regional health. Western Pacific2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Article in The Lancet regional health. Western Pacific, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed.
- Review
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.EBioMedicine · 2026Article
- The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project.Communications medicine · 2026Article
- The transformative impact of ultra-rapid nanopore sequencing in precision medicine.Frontiers in immunology · 2026Review
- A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.BMC nephrology · 2025Article
- Applications of Genome Sequencing in Infectious Diseases: From Pathogen Identification to Precision Medicine.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project.Briefings in bioinformatics · 2025Article
- Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.HGG advances · 2025Article
- A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice.Communications medicine · 2025Review
- Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study.Human genomics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
39 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Genome sequencing (GS) has revolutionised the diagnostic odyssey of patients with rare genetic diseases (RDs) and accelerated large-scale genome projects globally. However, the impact of GS on patients with RDs is yet to be investigated among genome projects in Asia. The Hong Kong Genome Project (HKGP) was implemented to benefit patients and families with RDs in Hong Kong, and to increase the inclusiveness of Chinese genomic data. This study evaluated the impact of short read GS (srGS), complemented by long read GS (lrGS) in a subset, on individuals recruited in the pilot phase of the HKGP. Methods: GS was performed on a prospective cohort of patients with suspected genetic disease recruited by territory-wide referrals to the HKGP. All participants received srGS, while lrGS was applied to a subset to resolve technically challenging regions unclear from srGS and provide phasing information for potential compound heterozygous variants. A phenotypic-driven diagnostic workflow was implemented to filter and prioritise rare and likely disease-causing variants. The primary outcome was diagnostic yield. The impact on the diagnostic odyssey and clinical management was also assessed. Findings: A total of 1264 individuals from 520 families with a broad spectrum of RDs were recruited, with 94% of probands being Chinese. srGS was performed for all individuals and lrGS was performed in 21 individuals. The use of srGS achieved a molecular diagnosis in 24% (125/520) of probands, and an additional 4% (21/520) with the assistance from lrGS. Approximately one-third of the identified diagnostic variants being novel. Diagnostic yield was found to be significantly higher among adult probands compared to paediatric probands (32% vs 24%; p = 0.025). The diagnostic yield was significantly higher in probands without prior genetic testing (37%; n = 185) compared to those previously tested, including exome and genome sequencing (23%; n = 335) (p = 0.001). GS ended diagnostic odysseys with an average length of 15 years (0.5-59), and potentially impacted clinical management in 77% (113/146) of diagnosed probands. Interpretation: This population-based genome project shed light on the consideration of integrating srGS and lrGS in clinical workflows for RDs. The identification of unique and prevalent variants from Southeast Asia increased the inclusiveness of Chinese genomic data, contributing to greater representation and genomic diversity. Funding: The HKGP is a publicly funded genome sequencing initiative commissioned by the Health Bureau of the HKSAR Government.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.