Abstract

BackgroundThe global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyzing the emergence of genetic testing (GT) with relevant ethical, legal, and social implications (ELSI).ResultsThe perception of university undergraduates with regards to PM and PGx was investigated, and 80% of undergraduates valued PM as a promising healthcare model with 66% indicating awareness of personal genome testing companies. When asked about the curriculum design towards PM and PGx, compared to undergraduates in non-medically related curriculum, those studying in medically related curriculum had an adjusted 7.2 odds of perceiving that their curriculum was well-designed for learning PGx (95% CI 3.6–14.6) and a 3.7 odds of perceiving that PGx was important in their study (95% CI 2.0–6.8). Despite this, only 16% of medically related curriculum undergraduates would consider embarking on future education on PM.When asked about their perceptions on GT, 60% rated their genetic knowledge as “School Biology” level or below while 76% would consider undergoing a genetic test. As for ELSI, 75% of undergraduates perceived that they were aware of ethical issues of GT in general, particularly on “Patient Privacy” (80%) and “Data Confidentiality” (68%).Undergraduates were also asked about their perceived reaction upon receiving an unfavorable result from GT, and over half of the participants perceived that they would feel “helpless or pessimistic” (56%), “inadequate or different” (59%), and “disadvantaged at job seeking” (59%), while older undergraduates had an adjusted 2.0 odds of holding the latter opinion (95% CI 1.1–3.5), compared to younger undergraduates.ConclusionHong Kong undergraduates showed a high awareness of PM but insufficient genetic knowledge and low interest in pursuing a career towards PM. They were generally aware of ethical issues of GT and especially concerned about patient privacy and data confidentiality. There was a predominance of pessimistic views towards unfavorable testing results. This study calls for the attention to evaluate education and talent development on genomics, and update existing legal frameworks on genetic testing in Hong Kong.

Highlights

  • The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyzing the emergence of genetic testing (GT) with relevant ethical, legal, and social implications (ELSI)

  • The questionnaire was accessed online at the commencement of the University’s Common Core Course “The World Changed by DNA” by HKU undergraduates by convenience sampling, of which students from any study curriculum in HKU could register for this course

  • Among the 202 participants, 81 were undergraduates studying in medically related curriculum (MRC) and 121 were undergraduates studying in non-medically related curriculum (NMRC)

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Summary

Introduction

The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyzing the emergence of genetic testing (GT) with relevant ethical, legal, and social implications (ELSI). The maturation and adoption of highthroughput genomic technologies such as the nextgeneration sequencing (NGS) technique for whole genome sequencing and whole exome sequencing allowed more rapid diagnosis of genetic conditions and discovery of novel genes for polygenic diseases [10,11,12,13,14,15]. As these state-of-the-art genetic and genomic technologies are integrating to our healthcare system in the form of genetic testing (GT), their applications are becoming more accessible, extending to direct-toconsumer genetic testing (DTCGT) in recent years [16, 17]. All of these issues have prompted controversies and discussions among the public amid the rapid and widespread provision of DTCGT [16, 21, 22]

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