P608: Perspectives from an Asian population regarding reproductive carrier screening implementation

Introduction: Reproductive carrier screening, which initially targeted ethic-specific genetic conditions, is now recommended for all populations.Despite technological capacity for expansive screening, in Singapore only thalassemia is routinely offered.Genetic condition severity and prevalence are main considerations in gene panel development, yet carrier screening uptake can be influenced by other factors such as lived experience and available support services.As most exploratory studies have been conducted in healthcare settings with European-derived populations, further research is required regarding participation and barriers amongst diverse populations to understand acceptability and impact.We explored the attitudes and preferences towards the implementation of carrier screening in Singapore, a population comprising of Chinese, Indian and Malay, by engaging with community members, healthcare professionals and religious leaders.Methods: As an initial scoping exercise, individuals of reproductive age attending outpatient appointments at a tertiary hospital in Singapore were invited to complete a questionnaire regarding their preferences towards carrier screening participation and genetic conditions to be screened.In parallel, the views and attitudes from healthcare professionals working in genetics or obstetric departments regarding carrier screening implementation were also collated by questionnaire.To increase awareness, religious leaders representing Islam, Buddhism, Christianity, Hinduism, and Judaism were also engaged.Results: To date, 296 community members have responded, with the majority of participants aged 25 to 44 years (range 18-54 years) and 57% identifying as female.Although most had not previously undergone reproductive carrier screening, 94% expressed interest in learning their carrier status.Concerns over potential insurance implications and increased medical appointments were the most common reasons for declining carrier testing.A large proportion of respondents (85%) indicated they would consider further testing if found to be at increased risk of having a child with a genetic condition, while 48% reported they may consider not having children.In addition to severe conditions, most respondents supported testing for late onset or mild genetic conditions.Among the 94 healthcare professional respondents, most acknowledged carrier screening will be routinely incorporated into clinical practice yet only half felt comfortable offering testing to patients.All religious leaders were supportive of carrier screening being offered to prospective parents.Conclusion: Overall, this preliminary data suggests that there is support for the expansion of carrier screening in Singapore from the perspectives of the community, healthcare providers and religious leaders.The responses also highlight key areas for educational initiatives and as well as insights into which genetic conditions to be considered for screening.These findings will help inform the design and implementation of a carrier screening program which is tailored, accessible and equitable for the Singaporean population.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102456
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
0.00
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article

P608: Perspectives from an Asian population regarding reproductive carrier screening implementation

Yasmin M. Bylstra, Saumya Shekhar Jamuar, Jan Hodgson, Jasmine Chew Yin Goh et al.
Genetics in Medicine Open
Cystic Fibrosis Research Advances
article

P608: Perspectives from an Asian population regarding reproductive carrier screening implementation

Yasmin M. Bylstra, Saumya Shekhar Jamuar, Jan Hodgson, Jasmine Chew Yin Goh, David J. Amor, Young Mi Choi, Melody A. Menezes, Ssc Chan, Jeannette Goh
article en

Abstract

Introduction: Reproductive carrier screening, which initially targeted ethic-specific genetic conditions, is now recommended for all populations.Despite technological capacity for expansive screening, in Singapore only thalassemia is routinely offered.Genetic condition severity and prevalence are main considerations in gene panel development, yet carrier screening uptake can be influenced by other factors such as lived experience and available support services.As most exploratory studies have been conducted in healthcare settings with European-derived populations, further research is required regarding participation and barriers amongst diverse populations to understand acceptability and impact.We explored the attitudes and preferences towards the implementation of carrier screening in Singapore, a population comprising of Chinese, Indian and Malay, by engaging with community members, healthcare professionals and religious leaders.Methods: As an initial scoping exercise, individuals of reproductive age attending outpatient appointments at a tertiary hospital in Singapore were invited to complete a questionnaire regarding their preferences towards carrier screening participation and genetic conditions to be screened.In parallel, the views and attitudes from healthcare professionals working in genetics or obstetric departments regarding carrier screening implementation were also collated by questionnaire.To increase awareness, religious leaders representing Islam, Buddhism, Christianity, Hinduism, and Judaism were also engaged.Results: To date, 296 community members have responded, with the majority of participants aged 25 to 44 years (range 18-54 years) and 57% identifying as female.Although most had not previously undergone reproductive carrier screening, 94% expressed interest in learning their carrier status.Concerns over potential insurance implications and increased medical appointments were the most common reasons for declining carrier testing.A large proportion of respondents (85%) indicated they would consider further testing if found to be at increased risk of having a child with a genetic condition, while 48% reported they may consider not having children.In addition to severe conditions, most respondents supported testing for late onset or mild genetic conditions.Among the 94 healthcare professional respondents, most acknowledged carrier screening will be routinely incorporated into clinical practice yet only half felt comfortable offering testing to patients.All religious leaders were supportive of carrier screening being offered to prospective parents.Conclusion: Overall, this preliminary data suggests that there is support for the expansion of carrier screening in Singapore from the perspectives of the community, healthcare providers and religious leaders.The responses also highlight key areas for educational initiatives and as well as insights into which genetic conditions to be considered for screening.These findings will help inform the design and implementation of a carrier screening program which is tailored, accessible and equitable for the Singaporean population.

Genetics in Medicine OpenVol. 3
SingHealth (SG), The University of Melbourne (AU), SingHealth Duke-NUS Academic Medical Centre (SG), KK Women's and Children's Hospital (SG), Murdoch Children's Research Institute (AU)
Gender equality
Openalex Percentile: Top 93%
Cystic Fibrosis Research Advances
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