Integrating genomic insights within healthcare workflows

Joel Diamond, Co-Founder and Chief Medical Officer, 2bPrecise

Precision medicine has gained momentum ever since the human genome was mapped in 2003. However, patient genomic data can be difficult to access at the point of care with its complex vocabularies. This is where cloud-based technology can step in, to strengthen and empower the delivery of healthcare that can better place genomic insights at its core

Our healthcare environment today is made up of complex health needs and healthcare systems which are often put to the test. Generally, there are underlying expectations placed on the medical industry about what would dominate the next era of healthcare. Even before the pandemic brought into the spotlight the sustainability of healthcare delivery, there has been a gradual paradigm shift towards patient-centred and personalised care, where individuals themselves are more involved than ever in the treatment and services that they receive.

One such practice the evolution of healthcare has brought about, which puts patient-centricity at its core, is precision medicine. It is an emerging approach to medical care that integrates unique genetic make-up, lifestyle and environmental factors to determine the best medical strategy(ies) to use for a health condition. While the term precision medicine is relatively new, one component – the concept of understanding a person’s genetics to determine the best approach to prevent, diagnose and treat disease – is not. Blood type, for example, is coded in one’s DNA, and for decades has been key to ensuring that an individual who needs a blood transfusion can receive blood safely from a matching donor. Identifying select gene mutations in one’s DNA, can also show if an individual has a likely genetic predisposition to skin conditions such as eczema or other diseases including cancer, haemochromatosis and sickle cell anemia. The aim with precision medicine is to provide personalised treatment that is more likely to improve effectiveness and patient outcomes for each patient, compared with reactive cookie-cutter or sluggish trial-and-error approaches.

The place of precision medicine in healthcare

Since the human genome was successfully mapped in 2003, the movement to accelerate the transition of precision medicine from science and research to practical application at the point of care has gained momentum, albeit decades in the making. This has followed years of technological advancements and breakthrough discoveries in the field of genomics, and physicians across most specialties are now equipped to order a genetic test and gather genomic profiles of their patients. They can then use the results to pinpoint highly accurate diagnoses and optimal treatments for cancer, cardiovascular diseases, reproductive health, psychiatry, neurology, orthopaedic pain and countless other conditions.

Building onto precision medicine is also the field of pharmacogenomics (PGx) – where genetic variations can reveal how a person’s genes affect his / her response to medications – which has garnered huge interest in the past few years. Simply put, PGx enables clinicians to treat patients with medications that are tailored to their genes. The application of PGx can help physicians make more informed decisions about treatment involving medications, potentially increasing effectiveness and lowering the number of incidents of adverse reactions to it. Moreover, testing of a gene panel for a range of medications need not be repeated, as the results apply through patients’ lifetimes, which also eliminates duplicative testing and reduces cost.

In Singapore, precision medicine has been identified as a potential solution that can help contribute towards its long-term goals for the sustainability of its healthcare sector and transform healthcare for locals. Its National Precision Medicine (NPM) Strategy – a ten-year plan to put in place the healthcare framework and infrastructure needed to bring precision medicine to fruition – is currently in its second phase, where it will study the genetic makeup of 100,000 healthy Singaporeans and up to 50,000 people with specific diseases. It will also work with the healthcare ecosystem to run a precision medicine pilot, translating research findings into standard clinical practice.

Singapore’s way forward in precision medicine follows its research efforts into Asian genomes, which are considered largely underrepresented in genetic databases next to Caucasian counterparts. While developing a solid and extensive genomic foundation is crucial, it is also important to address the other gaps that remain and may hinder successful application of precision medicine at scale. Patient genomic data can be difficult to access at the point of care, especially where healthcare workflows are not optimised to analyse genomic results. For example, test results are typically returned in genetic science vocabularies, and not the vernacular that clinicians are more familiar with. Genomic data are also not currently stored holistically with data in electronic health records (EHRs), where there is a lack of robust functionality required to process and contextualise it next to existing clinical information about the patient. Think of it in a way where physicians are having to decipher code before being able to add to current health records and making an informed assessment for their patient care after. Even though genomic results can have a significant impact on health outcomes, the reality is still miles away, where data has yet to be used meaningfully at the point of care.

Additionally, there is also a lack of trained personnel to support the deployment and integration of precision medicine into traditional healthcare set-ups. A comprehensive education programme will also be needed to help physicians and healthcare providers embrace an integrated information system that places genomic insights at the heart of decision-making on patient care.

Helping the healthcare sector keep pace with the technological advances in precision medicine, enabling safer and more effective patient care

For precision medicine to be effectively integrated into clinical use at scale, new technologies and informatics must be introduced. This begins with the foundation of deep capabilities that can process and store genetic data of populations safely and securely. As genomic data are not yet presented in a format suitable for real-time use, it is necessary for healthcare institutions to enhance their IT infrastructure to accommodate the complexity of delivering precision medicine insights, where clinical workflows would need to incorporate specialised sequencing technologies and enhanced health IT solutions for the interpretation and generation of data. For example, using a cloud-based platform that combines clinical information from a separate EHR system with data from any testing lab for a clinical-genomic ontology, which is also easily and directly accessible within the workflow.

By setting in place the fundamental infrastructure needed to keep up with the continuously evolving precision medicine approach, physicians across the healthcare sector, be it in any specialty or department, can take the actionable steps towards doling out personalised care for their patients. After all, genomics- informed decisions, which in turn result in improved patient outcomes and satisfaction, can be made only through the implementation of an advanced data-driven healthcare approach.

A case in point would be the Murfreesboro Medical Clinic and SurgiCenter (MMC) in Tennessee, which focused on leveraging PGx to provide better and safer therapy for its patients. Earlier this year, MMC conducted a comprehensive chart review of patients for whom providers had ordered PGx tests. Clinicians were prompted to make medication changes in 74 per cent of these patients, as the test results had indicated the medications that had been prescribed put the patient at risk for toxicity, adverse reactions or were unable to be processed by the patient to deliver the intended therapeutic results. Following the medication changes, 98 per cent of the affected patients reported improvement thereafter.

This was done simply by integrating PGx test results, within their clinical workflow and EHR, which empowered physicians to prescribe medication that would most likely yield the best response in patients, based on the lab’s evaluation of medication benefits against genetic profiles.

The next era of healthcare; moving precision medicine beyond being an afterthought

Much has been said about the array of benefits that comes from the applications of precision medicine, especially in optimising diagnostic methods which can create a ripple effect and enhance screening, detection and treatment methods. Providing a level of access for physicians and healthcare providers to their patients’ genomic data and insights would be a critical link to achieving precision medicine’s promise of better care and greater efficiency. The changing dynamics of healthcare delivery marks the pivotal note for the sector to embrace precision medicine, from the inside (of its ecosystem) out, to truly enable positive health outcomes at scale.

The technology and know-how are already here today, and the future of healthcare is really about putting the power of precision medicine to work. Combining the strides in technology, and the shift towards patient-centred care, the impact of these changes will be felt by the healthcare sector in accelerated fashion in the years ahead.

--Issue 53--

Author Bio

Joel Diamond

Joel Diamond is a Co-founder and Chief Medical Officer of 2bPrecise, a wholly-owned subsidiary of Allscripts, is a Diplomat of the American Board of Family Medicine and a Fellow in the American Academy of Family Physicians. He cares for patients at Handelsman Family Practice in Pittsburgh.

Harvard Medical School - Leadership in Medicine Southeast Asia47th IHF World Hospital CongressHealthcare CNO Summit - USAHealthcare CMO Summit - USAHealthcare CFO, Financial Strategy & Revenue Cycle SummitHealthcare CEO & Executive Strategy Summit