Research Projects
Ethical Framework for Newborns Genome Sequencing

The advent of whole genomic sequencing (WGS) has revolutionized the diagnostic odyssey of patients with hereditary diseases and undiagnosed disorders, driving significant advancements in public health, including a major shift towards precision medicine. With the huge potential of WGS, Genome Projects of various scales have been carried out globally, such as Singapore, the United Kingdom (UK), the United States, and other European countries. The proven diagnostic and clinical capabilities of WGS, alongside its increased affordability, have raised the possibility of its routine implementation in newborn care. Early detection plays a pivotal role in improving patient outcomes and reducing healthcare expenditures. Newborn screening at the population level is one of the most successful public health initiatives, preventing morbidity and mortality through early detection or prediction of potentially treatable congenital and genetic conditions during the neonatal period, often during the pre-symptomatic phase. With the rapid advancement in genomic sequencing technologies, the application of WGS in newborns has become possible in recent years. It offers the opportunity to expand newborn screening for a broader range, potentially hundreds, of rare conditions beyond those suited to standard biochemical methods. Newborn genome sequencing may have its greatest lifelong impact on newborns by identifying predispositions for future diseases, enabling access to early personalized treatment at the population level. While studies have started to provide early insights for applying WGS in newborn care, there remain many ethical considerations to explore before the technology is embraced as part of a routine screening tool in a healthcare setting. Incoming student(s) are anticipated to explore clinical, ethical and social dimensions of WGS for newborn screening programmes.

Dr OMY Ngan, Medical Ethics and Humanities Unit

Dr. Olivia Ngan has multidisciplinary training in neuroscience, bioethics, and public health. Her research passion lies in reproductive health, public health genomics, rare diseases, and empirical bioethics. She is deeply interested in unraveling ethical dilemmas linked to the practical implementation of technologies in genomic medicine and healthcare services, focusing on reproductive technologies, prenatal screening and diagnosis, and newborn screening.

Biography
HKU Scholars Hub
ORCID
olivian1@hku.hk

For more information or to express interest for this project, please email the supervisor or the specified contact point in the project description.  Interested candidates are advised to enclose with your email:

1. your CV,
2. a brief description of your research interest and experience, and
3. two reference letters (not required for HKUMed UG students seeking MRes[Med]/URIS projects).

Information on the research programme, funding support and admission documentations could be referenced online at the Research Postgraduate Admissions website. General admission enquiries should be directed to rpgmed@hku.hk.

HKUMed MBBS students interested in the Master of Research in Medicine (MRes[Med]) programme may visit the programme website for more information.  

HKUMed UG students interested in the Undergraduate Research Internship Scheme (URIS) may visit the scheme’s website for more information.