It’s 2030, you feel unwell, your body hasn’t felt like itself for a few weeks now. You’re worried it could be something concerning. You head to the nearest hospital and they wish to run a few tests. A decade ago, perhaps, you would be worried about whether your insurance covers the series of tests and machines you’re about to be put through. Instead, all that the doctors require are some basic samples and the next thing you know, the display in front of you has text and graphics running across the screen, showing all possible areas of concern.

Healthcare screening today is riddled with problems far beyond just high cost and inconvenience. Most diseases – serious illnesses and chronic ailments alike, lack preventative screening options and require specialists for diagnosis. Some require tests which are invasive and prohibitively expensive. Many of these diseases can be controlled if they’re detected early, improving the patient’s quality of life.

Using novel testing methods involving blood, breath, saliva, eye and dental images, it might be possible to envision a future with non-invasive, affordable tests that can detect these diseases early, all while being patient-friendly. There are some new modalities that have the potential to become mainstream in the near future.

Traditional biopsies and other testing methods are invasive, charged with potential complications, sometimes unrepeatable and cannot be performed when clinical conditions have worsened or when a tumor is inaccessible. Combining liquid biopsy with DNA-sequencing has shown promising results for the early detection of cancer.

During the past decade, liquid biopsy — the analysis of tumours using biomarkers circulating in fluids such as the blood — has received tremendous attention. The ability to detect and characterize tumours in such a minimally invasive and repeatable way could have considerable clinical implications, and huge progress has been made in the development of methods that can do just that.

Recently, circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA) in blood plasma have emerged as promising cancer biomarkers. They have been demonstrated to have utility for non-invasive detection of cancer, personalized treatment of late stage cancer, and residual monitoring of cancer during and after treatment.

Identifying and enriching these biomarkers and combining them with a genetic profile of the patient have resulted in encouraging developments towards a multitude of early disease detection tests via blood.

There are certain Breath-based tests being introduced as well. New research suggests that the measurement of the volatile organic compounds (VOCs) produced by the body’s metabolic activity is a powerful approach for health monitoring and disease detection. Volatile organic compounds (VOCs) are gaseous molecules that can be sampled quickly and non-invasively from breath. They can originate either from within the body (endogenous VOCs) or from external sources such as diet, prescription drugs and environmental exposure (exogenous VOCs). Research is ongoing to establish clearer connections between specific VOCs and the biological processes involved in their production. This can be used in cancer detection and inflammatory diseases such as IBD, Crohn’s disease and fatty liver can be controlled with early diagnosis.

Additionally, there are saliva based tests. Saliva is being looked at more closely than ever for its diagnostic possibilities. In recent times, because of the improved efficiency of genomic and proteomic technologies, the use of salivary diagnostics in a clinical setting is becoming a reality, a trend somewhat driven by discoveries in testing for COVID-19. The wide spectrum of biomarkers present in saliva provides valuable information for clinical diagnostic applications and can be used to detect a wide range of conditions, ranging from oral cancer to autoimmune diseases.

Dental imaging is also being taken under consideration. This involves taking a number of photographs of the teeth and jaw region. Apart from identifying dental abnormalities such as cavities and malalignment of teeth, new research suggests dental images can also be used to detect a few other health conditions early. Based on the density of the lower jaw bone, it might be possible to detect bone loss, indicative of early signs of osteoporosis.

Fundus imaging is another such modality. It refers to the process of taking many photographs of the interior of the eye through the pupil. This can be used to detect conditions such as glaucoma, diabetic retinopathy and retinoblastoma (tumour in the eye) among others, allowing early and accurate diagnosis, especially changes in the eye of patients with diabetes and blood pressure. As a window to the brain, the retina provides a unique opportunity to study many ophthalmic and neurodegenerative diseases

Future of healthcare screening
Early detection of neurodegenerative diseases, cancer, metabolic disorders and other conditions can be life-altering for patients. In most cases, detecting a condition early enables a demonstrable treatment plan, leading to higher survival rates and quality of life. Improving patient outcomes can also help in reducing the burden on stressed healthcare systems across the world that are teetering on the brink of collapse. This vision is bolstered by research work that is underway on breath and saliva based tests and recent FDA approvals of multi-cancer liquid biopsies. Correlations are also being established between dental and fundus imaging and various other diseases that are hard to detect today. A future of non-invasive, quick tests to diagnose ailments early may prove to be a reality, paving the way towards a more proactive approach to healthcare.

Manish Singhal, Founding Partner, pi Ventures

(DISCLAIMER: The views expressed are solely of the author and does not necessarily subscribe to it. shall not be responsible for any damage caused to any person/organisation directly or indirectly).

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