Genomic Medicine is a relatively new area of expertise, providing new perspectives when it comes to tackling diseases.
Many human diseases, including cancer and heart disease, can be traced back to genetic abnormalities or mutations that can be inherited. Genomic Medicine is opening up a whole new frontier in the way clinicians can care for their patients. As explained by Dr Saumya Jamuar, Head and Senior Consultant of the SingHealth Duke-NUS Genomic Medicine Centre (SDGMC), it is an interdisciplinary medical specialty that integrates an individual's genomic information as part of the overall clinical care.
“The use of Genomic Medicine enables the tailoring of clinical care to the individual's unique genomic information, enabling care to be more precise and, to some degree, personalised, leading to improved healthcare outcomes,” explained Dr Jamuar.
“Currently, Genomic Medicine is making an impact in medical specialties such as rare diseases, oncology, and pharmacogenetics (the understanding of how genetic variability influences drug treatment outcomes), enabling improved diagnostics and more precise and effective therapeutics. Beyond these specialties, there is a global effort to use genomic information to predict and prevent common complex genetic diseases such as diabetes and cardiovascular diseases.”
In 2019, SDGMC was launched to break down disease boundaries and investigate clinical challenges through the use of Genomic Medicine and research across all SingHealth institutions. The Centre has enabled the setup of multi-disciplinary genomic medicine clinics across the SingHealth cluster, which provide seamless care for patients with genetic disorders through standardised management guidelines.
SDGMC currently has collaborations with A*STAR and tertiary institutions such as the National University of Singapore and Nanyang Technological University. The Centre also collaborates with international research institutes such as the National Institutes of Health, Undiagnosed Disease Network International and the World Health Organisation. These partnerships and collaborative efforts are important as Genomic Medicine research takes place over the whole spectrum, from basic science to clinical, bioethics, and translational research.
Complementing traditional clinical practices
Genomic Medicine augments the conventional treatment regime with a deeper understanding of the basis of disease and how it affects individuals based on their genomic makeup. Because everyone inherits their genomic information from their parents, identifying one individual with a specific, sometimes rare, condition can enable clinicians to screen other asymptomatic family members for the same disease and proactively start intervention at an earlier stage. This potentially reduces long-term complications.
“For example, a proportion of individuals with breast cancer have a genetic predisposition to developing breast and ovarian cancer due to mutation in BRCA1 or BRCA2 gene. Understanding this genetic risk allows not only for more targeted treatment of breast cancer, but it also pre-empts other cancers such as ovarian cancer through early screening. In addition, it helps identify other at-risk family members, so that we can screen them proactively before they develop cancer,” shared Dr Jamuar, who is also a Senior Consultant in KK Women’s and Children’s Hospital's (KKH) Genetics Service.
Reducing wait-time for identifying rare diseases
One of the important uses of Genomic Medicine is in the area of rare diseases. These are defined as conditions that affect less than one person in every 2,000 individuals. In the past, patients with rare diseases had to undergo a long and arduous diagnostic journey. This included an extensive battery of tests, some of which were invasive, and required appointments with multiple specialists.
“For such patients, it took an average of seven years for them to get a correct diagnosis. With the help of Genomic Medicine today, we are able to identify these diseases in a much shorter time. The BRIDGES (Bringing Research Innovations in Diagnosis of Genetic Diseases in Singapore) programme, which was launched by KKH in 2014, has helped significantly increase the percentage of patients receiving the correct diagnosis from under 10% to 37% and reduced the diagnostic odyssey for these patients. For one in three of patients with rare diseases, the diagnosis led to a direct change in clinical care.”
“The final confirmed diagnosis finally brought us hope and the future no longer looked uncertain. We believe there are still many families out there with kids whose genetics diagnoses are still unknown and that they will be equally be able to benefit from such a research programme,” shared by a parent whose child has benefitted from the BRIDGES programme.
Dr Jamuar and his team are currently working on quantifying the reduction in healthcare resources utilisation through this programme.
Meeting the needs of Genomic Medicine
Because Genomic Medicine is a relatively new field of medicine, Dr Jamuar sees two critical areas for advancement. The first need is the need to nurture a pipeline of expertise skilled in different aspects of Genomic Medicine.
“Given the complexity around genomic information, the Ministry of Health has promulgated guidelines on standards for the practice of Genomic Medicine. Currently, there is a shortage of trained professionals and we are running a quarterly workshop in SingHealth aimed at equipping healthcare professionals with the necessary skills and knowledge to support the breadth and scope of work that needs to be done. In addition, we offer in-house fellowships to enthusiastic junior doctors to provide practical training in Genomic Medicine,” Dr Jamuar explained.
“The second critical area is to build up the reference genomic data from our local population. As our genomic information is unique and is specific to our ancestral and ethnic background, using reference data from external populations poses the risk of misdiagnosis and consequently, inappropriate treatment. The global genomic databases are heavily biased for Northern European populations, which comprise 78% of the data. This is a gap that Precision Health Research, Singapore (PRECISE), aims to close with plans to sequence 100,000 Singaporeans, and we plan to leverage that resource when it becomes available.”
Bolstering Genomic Medicine through philanthropy
“Philanthropic funding from like-minded individuals and organisations have been integral in enabling some of the Centre’s initiatives and we are very grateful for their support,” says Dr Jamuar. “One of the funds, the SWIFT (Supporting Whole Exome Sequencing In Family Testing) Fund has enabled us to offer rapid genetic testing (RapidSeq) to critically ill children to optimise patient management. This life saving support is able to deliver genetic testing results in under two weeks, whereas conventional genetic testing takes 8-12 weeks.”
Philanthropic funds have allowed SDGMC to pursue research activities to further understand the mechanism of disease and to identify targets that can be used to treat those individuals. SDGMC has built collaborations with researchers across Singapore and recently set up the Singapore Rare Disease Models and Mechanisms Network. The ultimate goal of the network is to identify therapeutic interventions that will benefit patients with rare diseases.
Further, philanthropic support has enabled SDGMC to augment their education workshops by offering scholarships and building a digital platform to improve accessibility to the workshops.
“We still have to a long way to go in realising the potential of Genomic Medicine. My hope is that, through the work of SDGMC, our patients will be able to receive tailored treatments targeting specific genetic variants, and that families will be able to better understand recurrent risks of diseases. This would make all the difference in the world for our patients and their families as it will give them closure and clarity where there was none before."
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