Page 35 - DIGITAL e-Book RCPH 2026

Organised by:
1 REGIONAL CONFERENCE onon O r g a n i s e d b y :
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PRECISION HEALTH

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Abstracts for 1st Regional Conference on Precision Health (RCPH)
15-16th April 2026, Royale Chulan Kuala Lumpur
From Genomes to Outcomes: Closing the Last Mile to Clinics and Populations
Laureate Professor Dr. Rodney John Scott
University of Newcastle, Australia
ABSTRACT
Since the completion of the human genome project there has been an explosion of knowledge and an
exponential decrease in the costs of whole genome analysis. These changes in our ability to
understand the human genome and use such information for clinical care have propelled medicine
forward in terms of understanding disease and now in our ability to better provide targeted care to
improve patient outcomes in all fields of medicine. For this to have occurred transformational
technologies were developed and are now commonplace thereby contributing to an ever-increasing
amount of data that can be used to understand both health and disease. The presentation provides an
oversight of what we have gained in the intervening period between the completion of the human
genome project and today. We now know much more about the human genome in its entirety; human
genetic diversity and its implications; difficult to sequence regions of the genome have now been
revealed using telomere to telomere sequencing that includes the Y chromosome; and centromeric
regions of the genome which until long-read sequencing became available were almost impossible to
define. The identification of rare variants has now become commonplace revealing many new genetic
conditions which had hitherto been difficult to define. In conjunction with this has been better insight
into the function of genes and how perturbations within them alter their function and give rise to
disease. Whole genome sequencing has revealed that each and every one of us carries
approximately 3,000,000 common polymorphisms, most of which are benign. Rare variants represent
variants that arise in germ cells and can be transmitted from generation to generation if the resultant
phenotype allows reproduction. These germline variants are now routinely categorised into 5 groups,
pathogenic, likely pathogenic, a variant of uncertain significance, likely benign and benign. This
classification scheme is used for both somatic mutations and germline pathogenic variants and has
significantly improved the utility of genomic findings. The epigenome is now amenable to investigation
and this represents perhaps the most exciting aspect of genomics. The epigenome is erased shortly
after fertilization and is re-established during the blastocyst stage which continues well after
implantation. For many years epigenetic change was studied using bisulfite sequencing, which allowed
for segments of the genome to be investigated at any one time. More recently, long-read nanopore
sequencing technology provides a much more comprehensive view of the epigenome and as such we
are beginning to understand its importance in human development and disease. In conclusion, we
have come far over the past 25 years in regards to what we now know about the human genome. Two
issues remain significant today, one is the risk of complacency – thinking that we know all about the
human genome, simply put, we do not. The other issue is the problem of genetic determinism. We
must remember that just because a genetic change has been identified does not necessarily imply that
a phenotype (disease) will be manifest. The environment plays an enormous role in disease
presentation and we should ignore this when discussing the role of genetics in health and disease.