The advent of genome sequencing is driving major advancements in healthcare, including a significant paradigm shift toward personalised medicine, which is being embraced by many Asia Pacific countries. The fusion of genome sequencing and personalised medicine can continue to revolutionise healthcare across various domains, including cancers, rare diseases, neurodegenerative diseases, and genetic conditions. As our competencies in this field develop, the enhanced understanding of the role of genetics in human disease, coupled with rapid advancement in gene sequencing technology, can hasten diagnosis for patients and provide greater opportunities for personalised care. In this article we delve into these technologies and explores the strategies Asia Pacific markets have taken for their development and implementation.
Genome sequencing is the process of decoding the order of DNA bases, the building blocks of the DNA double helix, in an entire genome. However, to make sense of genomic data, computational technologies and databases must evolve in parallel with sequencing technologies. Recent advancements, such as next-generation or high-speed sequencing, have significantly reduced the cost and time needed for large-scale DNA sequencing. They allow for the rapid examination of multiple genes using a single test, marking a transformative shift in genomics.
Personalised medicine (also known as precision medicine or genomic medicine) uses an individual’s genetic information to help guide healthcare providers in understanding genetic contributions to a patient’s health, susceptibility to disease, and responses to therapeutic interventions. It acknowledges that each patient is unique, and a one-size-fits-all approach to healthcare is no longer sufficient. Instead, personalised medicine leverages the information encoded in a person’s genes to tailor preventive measures, diagnoses, and treatment.
The convergence of personalised medicine, genomics, and other emerging technologies such as artificial intelligence (AI) heralds a transformative era in healthcare. Genomics and personalised medicine allow for a nuanced understanding of an individual’s genetic makeup, paving the way for tailored interventions and therapies. This granular level of insight, when seamlessly integrated with emerging tools such as AI algorithms, can empower healthcare professionals to decipher complex genetic patterns and predict disease susceptibilities with unprecedented accuracy.
Genomic sequencing technologies have noteworthy applications in paediatric care for diagnostic and screening purposes. Currently, in most developed and many developing countries, nearly every newborn undergoes screening for various severe early-onset diseases, including inherited metabolic disorders, severe combined immunodeficiency, and cystic fibrosis.
Universal newborn screening (NBS) stands as an incredibly successful public health program that has now integrated genetic testing to identify inherited disorders in neonates. By analysing an infant’s DNA shortly after birth, healthcare providers can detect conditions like phenylketonuria and sickle cell disease. NBS has not only saved numerous lives but has also significantly enhanced the quality of children’s lives through early intervention and treatment.
However, ethical and policy concerns have been raised regarding various aspects of newborn screening practices, including parental understanding, such as consent for testing, and the criteria for selecting conditions eligible for newborn screening. Therefore, it is essential to ensure that parents have access to sufficient information, that the entire population can benefit from genetic counselling services, and that there is effective governance and efficient administration of genomic newborn screening programs.
With large and often genetically diverse populations, as well as ambitious and well-funded policy support, many Asia Pacific countries are leaders in this field. Highlights include:
The implications of these technologies for the future of healthcare are profound. Their integration can not only streamline diagnosis and treatment but also catalyse a shift toward preventative strategies. In the future, AI-driven analyses of genomic data can enable the identification of potential health risks before symptoms manifest, thereby ushering in an era of proactive and personalised healthcare. MNCs are well advised to follow the latest trends in these areas closely, monitoring opportunities and keeping an eye on the shifting policy landscape across Asia Pacific.