ISTS Asks: Precision Medicine

9 min read

On 15 April 2023, Science Centre Singapore and Precision Health Research, Singapore (PRECISE) hosted a forum to introduce Precision Medicine, that may revolutionise the course of health and medicine. ISawtheScience got in touch with Dr. Seow Shih Wee, Director, Corporate Services at PRECISE, for more information:

1) To set the stage, could you explain briefly what is precision medicine and how does it work?

On average, genetics accounts for 30% of human health and disease; environmental and lifestyle factors account for the remaining 70%. Precision medicine is an approach to healthcare that considers the variations in a person’s genes, environment and lifestyle to pinpoint the factors affecting health and disease. 

This means that instead of the current “one size fits all” approach of medicine where all patients are treated with the same medications or therapies, precision medicine uses genetic and other types of testing to identify groups of individuals who are at higher risk of disease or its progression, to allow for early screening and preventive action, improving overall health outcomes.

At the individual level, precision medicine could enable a person to receive more targeted treatments and thus, more effective healthcare. At the societal level, precision medicine coupled with preventative health approaches could potentially improve overall health of the population, reducing incidence of late-stage disease. 

2) Precision medicine seems like something that requires quite a lot of healthcare infrastructure to support. What would be the challenges to set up the required infrastructure?

When Singapore embarked on its National Precision Medicine (NPM) journey in 2017 to establish a reference genetic database of 10,000 Singaporeans, it has set in place fundamental operational infrastructure, governance and ethical frameworks, as well as thought leadership to drive this effort. This initial infrastructure has enabled the NPM programme to scale and be ready for its next phase.  

In 2020, Precision Health Research, Singapore (PRECISE) was set up to lead the second phase of NPM programme, which aims to expand the research programme to 100,000 Singaporeans so as to identify specific disease biomarkers and develop targeted treatments for the Singapore population.

To accomplish this, a whole-of-ecosystem effort from Government agencies, healthcare providers, and pharmaceutical / biomedical companies, is needed to accelerate the development and adoption of precision medicine. 

PRECISE continues to work with the whole ecosystem to expand these infrastructure and frameworks, including:

Working with doctors and researchers to pilot how genetic testing can be incorporated into our clinics and hospitals for five disease areas: familial hypercholesterolemia, breast cancer screening, hereditary and familial cancers, kidney disease, and pre-emptive testing on responses to certain drugs in routine clinical practices.

Developing training programmes for healthcare providers to understand how to interpret genetic results appropriately and providing genetic counselling to patients where necessary.

PRECISE has partnered with Duke-NUS Genomic Medicine Centre and NUS Yong Loo Lin School of Medicine to roll out an Executive Certificate as well as a Masters in Science programme to build capabilities in the understanding of clinical genomics and genetic counselling in the local workforce.

3) While precision medicine has great promises, patients may fear that the cost of such treatment be prohibitively expensive. What are your thoughts, and would you say anything to allay such fears?

Precision medicine potentially allows doctors to make better, more informed decisions about the treatment, management, and prevention of diseases. Instead of a “one size fits all” approach, physicians would be able to use patient- or population-specific data for more accurate diagnosis and targeted treatment plans. 

For patients, this can potentially minimise misdiagnoses or over-treatments, reducing the costs of unnecessary testing, procedures and medication. 

Many countries, including Singapore, have expressed interest in precision medicine and have invested in research and development in this area. Last December, Singapore launched our largest population cohort study in Singapore, aptly named – SG100K. Mr Ong Ye Kung, Minister for Health, officiated the event and joined the study. 

The SG100K genetic study will monitor the health and well-being of 100,000 participants in Singapore over many years, in order to deepen the understanding of the links between the genetic make-up, social and environmental factors, and onset of severe disease. The study could enable the development of precision medicine, allowing clinicians to move beyond “one size fits all” approach to medication and treatment. To do this, we need to conduct extensive consultation, research and engagement with a wide range of stakeholders including the public and regulatory bodies to fully benefit from precision medicine in Singapore. 

4) Would patients with more common diseases be favoured, and those with rarer diseases be at a disadvantage?

Precision medicine has the potential to benefit any disease that has an underlying genetic cause, not just rare diseases. 

One of PRECISE’s clinical pilots focuses on early screening for Familial Hypercholesterolemia (FH), a genetic condition in which high cholesterol levels are passed down in families, increasing the risk of premature heart disease by up to 20 times. Approximately 1 in 140 people in Singapore are predisposed to FH but more than 90% of people are unaware of this condition and remain undiagnosed. Moreover, individuals possessing this mutation have a 50% chance of passing it on to their children. Early screening for FH using genetic and cholesterol tests would be a cost-effective way to identify people who are at risk with FH, so that they can receive treatment early and lower their risks of coronary heart diseases.

In addition to disease predisposition, genetic variations can also predict adverse drug reactions. More than 1 in 4 Singaporeans carries genetic variations that increases their risk of experiencing side effects to at least one medication. Another of PRECISE’s clinical pilots involves testing a panel of genes that affect drug safety and efficacy. With the patients’ genetic test results, doctors can identify which drug and dosage work best and which types of drugs to avoid, minimising potential side effects to the prescribed medication. 

As the NPM progresses, we may find more diseases which have underlying genetic causes. In addition to the two examples cited above, PRECISE has also partnered with doctors and researchers to pilot three other clinical applications of genetic testing in healthcare settings to diagnose, manage and/or treat patient/population cohorts for specific conditions. These include breast cancer screening, hereditary and familial cancers, and kidney disease. The data generated could also be used by policymakers for the planning and implementation of precision medicine in a safe and sustainable manner.

Read more about the clinical pilots here.

5) As precision medicine involves the use of a patient’s identifiable data, what are the procedures in place that assure patients that their data is kept private?

Security and privacy are of utmost importance and PRECISE complies with strict standards of data access and governance set out by the Government. This includes:

6) With the growth of precision medicine research, a common topic that is brought up is “informed consent”. In research, what would constitute as a patient being “sufficiently informed”?

All research study participants, including those taking part in the NPM project and the clinical pilots, will go through the process of informed consent before taking part. The process of obtaining informed consent should be conducted in a conducive environment without any coercion, duress or undue influence.

The process for informed consent typically involves explaining the treatment or procedure in detail, including the risks and benefits, as well as alternative options, and obtaining the patient or legal guardian’s signature on a consent form. Participants will not be enrolled into research studies if their informed consent were not obtained.

7) What is the state of precision medicine (the use or application of it) in Asia as opposed to the rest of the world, and how long do you think would it take for precision medicine to become mainstream?

Precision medicine initiatives are emerging in Asia. In recent years, there have been efforts in countries and jurisdictions such as Japan, South Korea, China, Taiwan, Hong Kong and Thailand to establish precision medicine research and development programmes. 

Precision medicine’s potential to revolutionise healthcare in Asia comes in several ways:

Address Asian genomic gap and treat Asian disease phenotypes: Precision medicine has the potential to address the Asian genomic gap and treat Asian disease phenotypes by utilising genetic and genomic data specific to Asian populations. Historically, much of the genetic research has been focused on participants of European descent, leaving gaps in knowledge about genetic variation and disease susceptibility in other ethnic groups, including Asians. The rise in interest in precision medicine approaches in Asia can address this gap experienced in public reference genome databases.

Early detection: Precision medicine can help identify diseases at very early stages, potentially preventing serious conditions from developing. Genetic testing and screening could also be more widespread, allowing for earlier detection and corresponding treatment.

Disease prevention: Precision medicine can be used to identify genetic predispositions to diseases that may help prevent the onset of these conditions through lifestyle changes and preventive treatments.

Research opportunities: Precision medicine can support on-going research efforts in Asia, as genetic data and disease information are organised and analysed to develop new treatments and therapies. Countries with similar demographic profiles can also come together to learn from each other, share new insights and best practices.

8) To conclude, what do you think are the barriers to the public accepting precision medicine as part of the future of medical care?

As precision medicine is a relatively new field, it may take some time for members of the public to understand what it entails. Precision medicine also involves complex scientific concepts and advanced technologies such as genetics, bioinformatics and artificial intelligence which can make it challenging to communicate the benefits of precision medicine in an accessible way.

PRECISE will continue to work in concert with partners such as Science Centre Singapore on outreach programmes to provide public talks, workshops and campaigns to raise public awareness about the benefits of precision medicine.

Interviewed by Raphael Ng
Contributed by Dr. Seow Shih Wee


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