The healthcare industry is experiencing unprecedented levels of disruption via several emerging technologies such as Artificial Intelligence (AI), big data analytics, wearable medical devices, the Internet of Things (IoT), Virtual Reality (VR), etc. These technologies are rewiring the conception of the healthcare landscape. Furthermore, the convergence of digital technologies and diagnostic tests sets the stage for advancing and improving patient experience and outcomes.

Emerging technologies – for precision medicine

Diagnostics play a cardinal role across the entire healthcare spectrum-from screening, detection, and prognosis to patient stratification and condition monitoring. Although the diagnostics industry accounts for just two to three per cent of all healthcare spending, it influences over 70 per cent of medical decision-making.

Digital diagnostics can significantly influence clinical decision-making by providing a range of tools for the collection, presentation, and interpretation of patient data, including deidentifying patient pools or curating tumor mutation datasets, matching patients to clinical trials, and enabling multidisciplinary collaboration. When patient data from multiple modalities—such as clinical chemistry, biomarkers, genomics, and imaging are collated and presented in context, the physician is provided with an information-rich overview of the patient. Thus, digital diagnostic enables both depth and breadth of information for a particular patient facilitating precision medicine and fine-tuning patient care to molecular and genomic levels.

AI and Diagnostics

AI holds the promise of revolutionising predictive healthcare and providing a more timely and accurate diagnosis. Its adoption has helped in improving diagnostic services for noncommunicable diseases such as heart attack, cancer, diabetes, and stroke. AI-assisted digital scanning technology has proved to be a game-changer amid the growing concern about rising cancer cases in India. By enabling digital conversion at the site, AI has made it possible for pathologists to review samples remotely, without having to ship them to the reference laboratory. This has largely aided cancer detection and disease management. Such innovative technology allows for rapid testing near the patient, including in their homes, which can help facilitate better disease diagnosis, monitoring, and management. It can also reduce the time to results, as travel time for samples and results is reduced or eliminated.

The major obstacle for patients with rare diseases is late diagnosis and misdiagnosis. AI enables early and proper diagnosis of rare diseases by working on searching datasets based on “clinical hints,” which are commonly missed when patients present early in their disease with initial disease manifestations. Thus, Artificial Intelligence based clinical diagnostic support systems promise transformational improvements in doctors’ efficiency and accuracy. It has equipped physicians and health systems with the tools to predict the risk of cardiac disease in their patients and initiate early intervention and prevention of deterioration to make a real difference. It also reduces costs in the long run for patients.

Genetic testing

Genetic testing is slowly gaining popularity for diagnosis and treatment in India. Tests such as carrier screening tests are used to determine the risk of having children affected by genetic diseases. More than 1,000 genetic tests are currently in use, and many more are being developed. Next-generation sequencing based methods can detect drug resistance in TB patients directly from clinical samples. With an increasing number of tests being done in India, many of them now cost half as much as they did five years ago and this cost is expected to decline further as awareness about genetic testing increases. Genetics can have a great impact on how therapies and drugs affect patients. Paediatrics, foetal medicine, oncology, and haematology may use genetic testing more actively than other departments.

Genomics is the vanguard of digital healthcare, and we are witnessing a convergence of the two mainly accelerated by COVID-19 pandemic. The advent of next-generation sequencing technology has made whole genome screening possible and presents an opportunity to explore the cumulative effect of these genetic variations disease manifestations. AI involvement in the sphere of genomics is very exciting for the future. However, AI’s typical limitations prevent it from being a dominant force in the field of genomic diagnostics, at least for now. MedGenome conducted the first-ever study on an Indian population that validated a novel concept called the Polygenic Risk Score (PRS). It is generated using an algorithm that integrates six million sites from the human genome and can precisely predict the risk of developing coronary artery disease/Myocardial Infarction (MI) using a person’s genetic makeup. Thus, predictive genetic tests could have substantial benefits and even be lifesaving.

Present Lacuna in the Diagnostic Sector

Strong diagnostic capacity is important to keep communities healthy and prevent the spread of localised disorders. But despite this, diagnosis is the weakest link in the cascade of care. More than 90 per cent of the current diagnostic tests require a laboratory, yet the World Health Organisation (WHO) projects that only one per cent of primary care clinics have basic diagnostic capacity. Although digital diagnostics have been hailed as the future of healthcare provision in resource rich countries, they offer the greatest potential benefits in low- and medium-income countries. The digital diagnostic can dramatically improve both case management, especially for those most marginalised from conventional diagnostics, and disease surveillance, which would allow for better targeting of resources.

Key drivers and enablers of digital diagnostics include technological advances such as cloud computing, which reduces the burden on an institution’s infrastructure, and new business models such as software as a service (SaaS), which make access to cost-effective and scalable tools a reality. The phenomenal rise in the use of technology is an integral part of the health sector’s efforts to improve customer experience and support clinical decisions and has become a backbone for continued growth. Increased acceptance and boost to digital diagnostics will require an industry-wide effort from stakeholders to translate innovation into impact and will demand validation of these tools and also a fresh approach from the regulatory bodies.

Views expressed by Dr Gunisha Pasricha, Principal Scientist, Infectious Disease Expert, MedGenome Labs

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