Training in clinical genetics and genetic counseling in Asia

Paz, Eva Maria Cutiongco‐de la; Chung, Brian Hon‐Yin; Faradz, Sultana Mh; Thong, Meow‐Keong; David-Padilla, Carmencita; Lai, Poh San; Lin, Shuan‐Pei; Chen, Yin‐Hsiu; Sura, Thanyachai; Laurino, Mercy

doi:10.1002/ajmg.c.31703

Cited by 13 publications

(8 citation statements)

References 14 publications

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“…Genetic counseling services are rapidly evolving globally (1), and mainland China and Hong Kong are also committed to expanding local capacity for such services (38,149). In studies conducted in mainland China and Hong Kong, women had limited knowledge of NIPT and in some cases made incorrect assumptions.…”

Section: Hong Kongmentioning

confidence: 99%

The Emergence and Global Spread of Noninvasive Prenatal Testing

Ravitsky

Roy

Haidar

et al. 2021

Annu. Rev. Genom. Hum. Genet.

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Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancy termination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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Section: Hong Kongmentioning

confidence: 99%

The Emergence and Global Spread of Noninvasive Prenatal Testing

Ravitsky

Roy

Haidar

et al. 2021

Annu. Rev. Genom. Hum. Genet.

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“…The letter mentions why they needed cardiovascular surveillance and genetic testing. Most developing countries face similar difficulties because the national genetic counseling system is in the toddler stage [ 8 ]. This work is currently consultant-led and varies based on the individual’s practice.…”

Section: Discussionmentioning

confidence: 99%

“…The most common ICCs in public health include cardiomyopathy, aortopathy, pulmonary hypertension, and arrhythmias [1][2][3][4]. In many developing countries, such as Thailand and other Southeast Asian nations, clinical genetic services are limited owing to a limited number of clinical geneticists, laboratory geneticists, and genetic counselors working in this field [5][6][7][8]. Few medical centers have established joint specialist clinics between cardiologists and geneticists to provide ICC genetic services for patients and families to receive genetic consultation, counseling, and targeted genetic testing where indicated.…”

Section: Introductionmentioning

confidence: 99%

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

et al. 2022

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Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common referrals in the Inherited Cardiovascular Condition (ICC) Genetics Service. Several issues must be discussed with patients and their families during the genetic consultation session, including the options for genetic testing and cardiovascular surveillance in family members. We developed an ICC registry and performed next-generation-based DNA sequencing for all patients affected by non-syndromic HCM and idiopathic DCM in our joint specialist genetics service. The target gene sequencing panel relied on the Human Phenotype Ontology with 237 genes for HCM (HP:0001639) and 142 genes for DCM (HP:0001644). All subjects were asked to contact their asymptomatic first-degree relatives for genetic counseling regarding their risks and to initiate cardiovascular surveillance and cascade genetic testing. The study was performed from January 1, 2014, to December 31, 2020, and a total of 62 subjects (31-HCM and 31-DCM) were enrolled. The molecular detection frequency was 48.39% (32.26% pathogenic/likely pathogenic, 16.13% variant of uncertain significance or VUS for HCM, and 25.81% (16.13% pathogenic/likely pathogenic, 9.68% VUS) for DCM. The most prevalent gene associated with HCM was MYBPC3. The others identified in this study included ACTN2, MYL2, MYH7, TNNI3, TPM1, and VCL. Among the DCM subjects, variants were detected in two cases with the TTN nonsense variants, while the others were missense and identified in MYH7, DRSP3, MYBPC3, and SCN5A. Following the echocardiogram surveillance and cascade genetic testing in the asymptomatic first-degree relatives, the detection rate of new cases was 8.82% and 6.25% in relatives of HCM and DCM subjects, respectively. Additionally, a new pre-symptomatic relative belonging to an HCM family was identified, although the genomic finding in the affected case was absent. Thus, ICC service is promising for the national healthcare system, aiming to prevent morbidity and mortality in asymptomatic family members.

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“…Many Asian countries have yet to reach the stage of a formal establishment of training programs and describing how the professional development of clinical genetics and genetic counseling is at different stages in different countries, Cutiongco‐de la Paz et al has written an overview on the status of genetics training in seven countries in Asia sharing on both the progress of training in clinical genetics and the training of the genetic counselors which are necessary to fully integrate genetics into a clinical environment (Cutiongco‐de la Paz et al, ). Based on the Royal College of Physicians UK recommendation of 6–12 genetic counselors per 1 million, at least 27,000 genetic counselors are needed to serve the population of Asia.…”

Section: The Development Of Clinical Genetics and Genetic Counseling mentioning

confidence: 99%

“…However, it is estimated that there are only 350 genetic counselors currently working in the region. Cutiongco‐de la Paz et al discusses how Hong Kong, Indonesia, Malaysia, Philippines, Singapore, Taiwan, and Thailand are working to correct this severe shortage (Cutiongco‐de la Paz et al, ).…”

Section: The Development Of Clinical Genetics and Genetic Counseling mentioning

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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Training in clinical genetics and genetic counseling in Asia

Cited by 13 publications

References 14 publications

The Emergence and Global Spread of Noninvasive Prenatal Testing

The Emergence and Global Spread of Noninvasive Prenatal Testing

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

Development of clinical genetics in Asia

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