The Singapore National Precision Medicine Strategy

Wong, Eleanor; Bertin, Nicolas; Hebrard, Maxime; Tirado-Magallanes, Roberto; Bellis, Claire; Lim, Weng Khong; Chua, Chee Yong; Tong, Philomena Mei Lin; Chua, Raymond; Mak, K.; Lim, Tit Meng; Cheong, Wei Yang; Thien, Kwee Eng; Goh, Khean Teik; Chai, Jin-Fang; Lee, Jimmy; Sung, Joseph J.Y.; Wong, Tien Yin; Chin, Calvin Woon Loong; Gluckman, Peter D.; Goh, Liuh Ling; Ban, Kenneth; Tan, Tin Wee; Dam, Rob M van; Teo, Yik Ying; Loh, Marie; Eillot, Paul; Lee, Eng Sing; Ngeow, Joanne; Riboli, Elio; Dalan, Rinkoo; Kassam, Irfahan; Lakshmanan, Lakshmi Narayanan; Lim, Tock Han; Ng, Hong Kiat; Mina, Theresia; Tay, Darwin; Sabanayagam, Charumathi; Tham, Yih Chung; Rim, Tyler Hyungtaek; Aung, Tin; Chee, Miao Ling; Li, Hengtong; Chee, Miao Li; Yeo, Khung Keong; Cook, Stuart A.; Pua, Chee Jian; Yang, Chengxi; Chong, Yap Seng; Eriksson, Johan G.; Tan, Kok Hian; Yap, Fabian; Lim, Chia Wei; Tsai, Pi Kuang; Chew, Wen Jie; Sim, Wey Ching; Toh, Li-xian Grace; Lin, Clarabelle Bitong; Sia, Yee Yen; Koh, Tat Hung; Meah, Wee Yang; Tan, Joanna H.J.; Jeyakani, Justin; Ow, Jack; Ang, Shimin; Malik, Ashar J; Kenanov, Dimitar; Sim, Xueling; Cheng, Ching‐Yu; Dávila, Sonia; Karnani, Neerja; Leong, Khai Pang; Liu, Jing; Prabhakar, Shyam; Maurer‐Stroh, Sebastian; Verma, Chandra; Krishnaswamy, Pavitra; Goh, Rick Siow Mong; Chia, Irenaeus; Ho, Clarissa; Low, Doreen; Virabhak, Suchin; Yong, Jacklyn Wei Yan; Zheng, Wei; Seow, Shih Wee; Seck, Yee Kwang; Koh, Mingshi; Chambers, John C.; Tai, E. Shyong; Tan, Patrick

doi:10.1038/s41588-022-01274-x

Cited by 19 publications

(8 citation statements)

References 52 publications

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“…Therefore, use of an SV imputation panel constitutes a practical and cost-effective solution for the robust analysis of common SVs. The multi-ancestry imputation panel applied in the present study to Europeans from UKB can also be used to impute SVs in diverse ancestries, e.g., from BioBank Japan 25 , Qatar Biobank 26 , China Kadoorie Biobank 27 , or the Singapore Precision Medicine Programme 28 .…”

Section: Discussionmentioning

confidence: 99%

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

Noyvert,

Erzurumluoglu,

Drichel

et al. 2023

Preprint

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Advancements in long-read sequencing technology have accelerated the study of large structural variants (SVs). We created a curated, publicly available, multi-ancestry SV imputation panel by long-read sequencing 888 samples from the 1000 Genomes Project. This high-quality panel was used to impute SVs in approximately 500,000 UK Biobank participants. We demonstrated the feasibility of conducting genome-wide SV association studies at biobank scale using 32 disease-relevant phenotypes related to respiratory, cardiometabolic and liver diseases, in addition to 1,463 protein levels. This analysis identified thousands of genome-wide significant SV associations, including hundreds of conditionally independent signals, thereby enabling novel biological insights. Focusing on genetic association studies of lung function as an example, we demonstrate the added value of SVs for prioritising causal genes at gene-rich loci compared to traditional GWAS using only short variants. We envision that future post-GWAS gene-prioritisation workflows will incorporate SV analyses using this SV imputation panel and framework.

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Section: Discussionmentioning

confidence: 99%

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

Noyvert,

Erzurumluoglu,

Drichel

et al. 2023

Preprint

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“…77 Similarly, Singapore has embarked on a mission to generate precision medicine data in the form of large-scale genomicphenotypic databases as part of its 10-year National Precision Medicine programme. 78,79 This will be Asia's leading reference genome database thanks to Singapore's ethnic diversity made up of around 80 percent of Asia's diversity. During Phase I, whole genome sequencing of 10,000 healthy Singaporeans was performed; this was known as the SG10K_Health study by PRECISE.…”

Section: Genomic Efforts and Challenges In Singaporementioning

confidence: 99%

It’s All in Your Genes: What Primary Care Should Know About Hereditary Cancer Syndromes

2024

SFP

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Primary care physicians are usually the first point of contact for patients with hereditary cancer syndromes. Though hereditary cancer syndromes are rare, accounting for roughly 5-10 percent of all cancers, a timely diagnosis is important, as not only do patients require long-term care from a young age, but their relatives also require management. In the past decades, enormous strides have been made to unravel the genetic basis of cancer, and this knowledge has been used to develop targeted treatments for hereditary forms of cancer. Germline genetic testing for patients and their families with suspected hereditary cancer syndromes is therefore a vital component of the practice of preventative oncology and must become routine clinical care. Here, we discuss the most common hereditary cancer syndromes and provide necessary information for primary care physicians regarding management of patients with Hereditary Breast and Ovarian Cancer syndrome and Lynch syndrome. We also highlight the importance of genetic testing, as well as barriers to testing globally and nationally. Addressing these barriers will bring us one step closer to implementing precision medicine in Singapore.

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“…With the genomic information that is already available, Singapore is currently working on a national strategy for developing personalized medicine, which is called Singapore's National Precision Medicine (NPM). The goal is to improve and protect the health of every Singaporean by strengthening public health, enhancing disease prevention, and discovering the most appropriate therapies for the most appropriate individuals and groups [ 65 ]. Until now, Singapore has been the leading country in developing the field of personalized medicine when compared with other countries in the Asian region.…”

Section: Global Initiatives On Variant Annotationmentioning

confidence: 99%

“…The NPM was launched in 2017 and is a 10-year project, which has already entered the second phase in April 2021. The goal is to enhance and accelerate Singapore's biomedical research, health outcomes, and economic growth [ 65 ].…”

Section: Global Initiatives On Variant Annotationmentioning

confidence: 99%

Central resources of variant discovery and annotation and its role in precision medicine

Halim-Fikri,

Syed-Hassan,

Wan-Juhari

et al. 2022

Asian Biomedicine

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Rapid technological advancement in high-throughput genomics, microarray, and deep sequencing technologies has accelerated the possibility of more complex precision medicine research using large amounts of heterogeneous health-related data from patients, including genomic variants. Genomic variants can be identified and annotated based on the reference human genome either within the sequence as a whole or in a putative functional genomic element. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) mutually created standards and guidelines for the appraisal of proof to expand consistency and straightforwardness in clinical variation interpretations. Various efforts toward precision medicine have been facilitated by many national and international public databases that classify and annotate genomic variation. In the present study, several resources are highlighted with recognition and data spreading of clinically important genetic variations.

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The Singapore National Precision Medicine Strategy

Cited by 19 publications

References 52 publications

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

It’s All in Your Genes: What Primary Care Should Know About Hereditary Cancer Syndromes

Central resources of variant discovery and annotation and its role in precision medicine

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