Precision medicine in Thailand

Shotelersuk, Vorasuk; Tongsima, Sissades; Pithukpakorn, Manop; Eu-ahsunthornwattana, Jakris; Mahasirimongkol, Surakameth

doi:10.1002/ajmg.c.31694

Cited by 14 publications

(13 citation statements)

References 66 publications

(68 reference statements)

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“…We collected ES data of 1119 unrelated Thai individuals recruited from six centers with majority located in the central region (Supplementary Table S1). In Thailand, we have limited number of clinical geneticists and majority of them are working in Bangkok 13,14 . Thus, most rare‐disease patients would attend hospitals in Bangkok either by walk‐in or via a referral system from their local healthcare providers.…”

Section: Resultsmentioning

confidence: 99%

The Thai reference exome (T‐REx) variant database

et al. 2021

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To maximize the potential of genomics in medicine, it is essential to establish databases of genomic variants for ethno‐geographic groups that can be used for filtering and prioritizing candidate pathogenic variants. Populations with non‐European ancestry are poorly represented among current genomic variant databases. Here, we report the first high‐density survey of genomic variants for the Thai population, the Thai Reference Exome (T‐REx) variant database. T‐REx comprises exome sequencing data of 1092 unrelated Thai individuals. The targeted exome regions common among four capture platforms cover 30.04 Mbp on autosomes and chromosome X. 345 681 short variants (18.27% of which are novel) and 34 907 copy number variations were found. Principal component analysis on 38 469 single nucleotide variants present worldwide showed that the Thai population is most genetically similar to East and Southeast Asian populations. Moreover, unsupervised clustering revealed six Thai subpopulations consistent with the evidence of gene flow from neighboring populations. The prevalence of common pathogenic variants in T‐REx was investigated in detail, which revealed subpopulation‐specific patterns, in particular variants associated with erythrocyte disorders such as the HbE variant in HBB and the Viangchan variant in G6PD. T‐REx serves as a pivotal addition to the current databases for genomic medicine.

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Section: Resultsmentioning

confidence: 99%

The Thai reference exome (T‐REx) variant database

et al. 2021

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“…Further, Japan has used the project to develop a new database to archive pathogenic variants among Japanese patients showing the clinical benefit of large scale precision medicine projects. Thailand, on the other hand, shows how a self‐described “middle income” country can make significant progress in the world of precision medicine (Shotelersuk, Tongsima, Pithukpakorn, Eu‐ahsunthornwattana, & Mahasirimongkol, ). Their establishment of Thailand's Rare and Undiagnosed Disease Network (T‐RUN) which has performed more than 2000 WES and 150 WGS analyses, and the Thai Cancer Precision Medicine project exemplifies how with decreasing costs of NGS, the increasing ability to interpret the genomic data and the growing number of actionable and available treatments for genetic diseases, the implementation of precision medicine at the public health level in Asian countries is not a matter of if but when.…”

Section: Precision Medicine In Asiamentioning

confidence: 99%

Development of clinical genetics in Asia

Chung

Willis

Poh-San

2019

American J of Med Genetics Pt C

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This Special Issue on Clinical Genetics in Asia highlights a collection of articles showing the growth, development, and current status of clinical genetics in Asia. In this Introduction, the Guest Editors share on the themes of this issue to provide useful insights into the rapid growth of genomics and clinical genetics in this region. The contents of this Issue cover a range of topics from the history and development of clinical genetics in Asia to studies on disorders with clinical significance or phenotype differences in the Asian populations to the status of precision medicine. The goal is to provide a glimpse of how significantly the field of genetics in Asia has developed in recent years with the aspiration that this can serve as a catalyst to increase international collaboration and cooperation in combating genetic diseases. We hope that this issue shows Asia's readiness and willingness to be a part of more international conversations about genetics in future.

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“…However, the landscape of genetic testing in Thailand is on the brink of transformation. The Genomics Thailand Initiative (Shotelersuk et al, 2019), which is the Thai national initiatives in precision medicine and translational genomics sponsored by the Thai Government, will likely have a large impact on public perception of genetic services soon. The Genomics Thailand Initiative, in conjunction with the Thai Ministry of Public Health, is expanding clinical programs in genomics and precision medicine targeting cancer, rare hereditary diseases, and noncommunicable diseases in healthcare facilities throughout Thailand (Springer Nature, 2020).…”

Section: Introductionmentioning

confidence: 99%

“…These consequences can be mitigated by healthcare professionals, particularly clinical geneticists, and genetic counselors, who can provide consultation and guide the public on how to navigate these complex issues. However, genetic services and personnel in Thailand remain very limited, with recent surveys showing that there were only 24 practicing clinical geneticists and no genetic counselor available for a country with a population of 70 million people (Limwongse, 2017;Shotelersuk et al, 2019). For this reason, the burden of increased needs for genetic counseling and services would likely fall on primary care physicians and internal medicine specialists.…”

Section: Introductionmentioning

confidence: 99%

Physician awareness, preparedness, and opinions toward consumer‐initiated genetic testing in Thailand: Views from a changing landscape

Kittikoon

Pithukpakorn

Pramyothin

2021

Journal of Genetic Counseling

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Consumer-initiated genetic tests have captured public interest in recent years, including in low-to-middle-income countries (LMICs) such as Thailand. Due to limited resources and personnel, physicians will most likely bear the burden of increasing service needs from the public as consumer-initiated genetic tests become popularized.The primary objective of this study was to describe (a) awareness, (b) preparedness to provide counseling about the consumer-initiated genetic test, and (c) opinions on the usefulness of consumer-initiated genetic tests among physicians at an academic hospital in Bangkok, Thailand. The secondary objective was to describe factors that were associated with the awareness, preparedness, and opinion of the participants. Paper questionnaires were sent out to participants which included internal medicine residents, fellows, and faculty staff members. The questionnaires assessed awareness, preparedness to discuss consumer-initiated genetic test results, and opinion on the usefulness of consumer-initiated genetic tests and included both closed-and openended questions. Responses were anonymous. Among 308 participants, there were 223 (72.4%) residents, 14 (4.5%) fellows, and 71 (23.1%) staff members. Only 15% of participants were aware of consumer-initiated genetic tests, mostly from the internet, and only 7% were prepared to provide counseling regarding consumer-initiated genetic tests. However, 60% agreed that consumer-initiated genetic tests may be clinically useful. Many participants, including trainees, expressed concerns about the interpretation of consumer-initiated genetic test results, application into clinical practice, appropriate counseling, and patient referral to geneticists. Multivariate logistic regression revealed that years of work experience was independently associated with awareness of consumer-initiated genetic tests, while male gender and less work experience were independently associated with favorable opinion toward the usefulness of consumer-initiated genetic tests. Our results pointed to an urgent need for genetic counselors in Thailand. Also, physicians, particularly trainees, need appropriate training to prepare them for a rapidly evolving environment where consumerinitiated genetic tests become commonplace.

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Precision medicine in Thailand

Cited by 14 publications

References 66 publications

The Thai reference exome (T‐REx) variant database

The Thai reference exome (T‐REx) variant database

Development of clinical genetics in Asia

Physician awareness, preparedness, and opinions toward consumer‐initiated genetic testing in Thailand: Views from a changing landscape

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