Biomarkers in Modern Diagnostics Facilitating Preventive Healthcare

Dr. Sanjay Arora engaged in a conversation with Thiruamuthan, Correspondent, India Pharma Outlook magazine to share insights on how biomarkers in modern diagnostics can be of immense help in facilitating preventive healthcare. He is the founder of Suburban Diagnostics and an industry leader with over 30 years of experience in healthcare and diagnostics, making him a healthcare evangelist. He has received several industry awards, is a TEDx speaker, a guest speaker at several national and international conferences, medical forums, management institutes, and business forums. He is currently the founding partner of Shubhan Ventures, a family office committed to fostering growth in the healthcare and retail industries, with an interest in philanthropy.

Diagnostics has the potential to impact the entire healthcare continuum of an individual: from healthy, to asymptomatic, to symptomatic, to chronic disease. This includes prevention, screening, diagnosis, stratification, management and monitoring. In fact, diagnostics impact 70% of decision making in health outcomes, at less than 10% of the total cost to the patient.

Unlike diagnostics, pharmaceuticals largely impact management and treatment. Given the size of the pharmaceutical industry, it only augers how large the diagnostics industry can truly become.

Over time, and especially after Covid, the mindset of individuals is gradually shifting from being reactive to proactive for their healthcare needs. People have understood the importance of preventive healthcare and how it is not only a better option to prevent an illness than treating one, it is cheaper too. Some examples are - preventing chronic kidney disease vs regular dialysis and preventive cardiac screening vs angiography and stenting.

The evolution of biomarkers in preventive healthcare has facilitated its adoption. We are now able to pick up conditions at a stage where it is possible to not only prevent progress but also to reverse or cure the condition itself. We can also make the predictions more individualized rather than generic due to the prevalence of genomic testing.

Take PAP smears with HPV testing as an example. A positive result allows for more vigilant screening; this enables picking up precancerous conditions at a stage where treatment ensures cure. This significantly reduces the overall incidence of cervical cancer in women.

One of the commonest tests done in labs is the Lipid profile. Identification of abnormal LDL and HDL cholesterol levels allows for interventions that greatly reduce the risk of cardiovascular diseases.

Measurement of Vitamin D and a DEXA scan for bones helps identify the incidence of osteoporosis, and with it, the potential for fractures. Once again, interventions can result in healthier bones and the ability to prevent fractures especially in the elderly and post-menopausal women.

Diabetes is one of the commonest non-communicable diseases today. Monitoring blood glucose and HbA1c levels allows for a tighter control of blood sugar levels. This reduces the incidence of complications associated with diabetes. However, measuring microalbumin in urine is the earliest indicator for kidney damage due to diabetes and hypertension. Intervention at this stage prevents the development of chronic kidney disease.

Measuring HbA1c in the healthy population identifies pre diabetics, with values between 5.8 and 6.4. Aggressive diet control, regular exercise, weight management and lifestyle changes can prevent the progression to diabetes, thereby reducing the burden of this condition on the healthcare ecosystem.

Tumor markers are used not only for screening but also a follow up test for assessing response to treatment and recurrence of disease. Markers like PSA for prostate cancer, CA 125 for ovarian cancer, AFP for liver cancer and BRCA genetic mutations for breast cancer identify individuals with a higher risk for developing these cancers. Increased surveillance and proactive treatment options are available to prevent the development of cancer in such high risk individuals.

The advent of genomic sequencing is revolutionizing the screening of genetic conditions by identifying those who are predisposed to certain diseases. Today we have the ability to identify genetic risk markers for cardiovascular disease, cancer and diabetes besides others. This also gives the opportunity to suggest personalized medicines and lifestyle alterations by tailoring the interventions based on each individual genetic makeup. Predictive risk profiling in families can facilitate closer monitoring for those found at higher risk, like in cancer and heart disease.

Data driven decision making is impacting the way medicine is moving forward. Clinical genetic testing allows the doctor to overlay their clinical acumen with genetic data about the patient. This makes for more accurate diagnosis and treatment.

The various applications of genetic testing include

• Diagnosis medical conditions having a genetic basis - predictive testing for future risk of disease
• Screening for carrier status - helps in reproductive decisions
• Screening for genetic disorders in a fetus and newborn - prenatal testing and newborn screening
• Identifying late onset disease in adults especially rare diseases
• Tailoring treatment based on genetic makeup

Getting our genome screened twice in our lifetime, once at birth and once at age 30 (to incorporate the impact of epigenetics/lifestyle on our genes) will allow the doctor to make better decisions.

The Gut microbiome is emerging as a preventive biomarker due to its impact on various aspects of human health. The trillions of bacteria, viruses, fungi and other microorganisms in the gut are known to affect cardiovascular health, metabolic disorders like diabetes and obesity, autoimmune conditions like in inflammatory bowel disease, issues with mental health like depression and anxiety and cancer. By studying and modulating the gut microbiome, there exists the opportunity to improve medical outcomes and reduce the incidence of chronic disorders.

With the advent of wearables, digital biomarkers can provide quantitative data on our physiology and certain aspects of our behavioral lifestyle. Parameters such as heart rate, sleep patterns, respiratory rate and activity levels provide valuable real time insights about the human body.

I foresee a three dimensional wellness ecosystem providing a holistic view of our health; the x axis represents the traditional biochemical parameters, the y axis represents the genomic biomarkers while the z axis represents the digital biomarkers. This will give us a comprehensive view of the health of an individual which will be personalized and predictive. When done at a population level, this can be useful for preparing cohorts with specific risk stratification, each having a targeted level of engagement and follow up to ensure better medical outcomes.