At Davos, healthcare inclusivity and accessibility were top agenda items. The World Health Organization’s theme for World Health Day 2024 centred on ‘the right of everyone, everywhere to have access to quality health services’. Underpinning this is a commitment to tapping technology like AI and innovations in genomics for big strides. Later this month, a WHO expert meeting shines the spotlight on how to improve and accelerate access to human genomics for public health outcomes.

Why is genomics such an important element of the blueprint to minimise morbidity and mortality from disease?

Genomics is advancing our understanding of the genetic basis of health and disease and shaping strategies to promote population health. Its impact is felt in the entire life cycle of disease management — from aetiology to risk assessment and disease prevention to diagnosis and even treatment.

Precision medicine ensures tailored interventions and more effective treatments that factor in an individual’s genetic makeup. In disease prevention, genomics enables genetic risk assessment which can guide a regimen of targeted screenings, lifestyle modifications and early interventions to mitigate the risk of genetic disorders. Individuals can make reproductive choices and lifestyle modifications and plan healthcare tailored to their genetic risk factors.

Traditional medicine falls short on rare disease diagnosis while genomics and related technology has delivered a conclusive diagnosis for 25-35 per cent of those previously undiagnosed. Exome sequencing helps shave years off the time taken to diagnose a condition — sparing people invasive treatments and expenses and helping with better disease management.

Carrier screening and Preimplantation Genetic Testing (PGT) are gaining mainstream acceptance to spot the genetic risk of Thalassemia, Sickle cell anaemia, Cystic fibrosis, Fragile X syndrome and Down syndrome before conceiving or implantation (in IVF). While these tests have been around for a while, the focus presently is to bring down costs to improve accessibility.

With infectious disease management — as in the Covid-19 pandemic — genomics can identify potential new threats, outbreaks, modes of transmission and vaccine development.

Genomics research is also diving into the genetic causes of diseases like diabetes, heart disease, and cancer which are known to be the result of multiple factors including lifestyle and environment. ‘Europe’s Beating Cancer Plan’ (with the CAN.HEAL consortium) applies genomics for public health, identifying individual targetable genetic alterations and monitoring treatment response. India could use public health genomics to combat the non-communicable disease problem that’s currently the leading cause of death here.

Harnessing the wave

Public health genomics is being applied for carrier testing of prospective parents, to study adverse drug effects, and also in disease prevention through the use of polygenic risk scores (PRS). But these applications are only as powerful as the data they’re based on. Many genotyping arrays available a decade ago were based on Caucasian populations and didn’t adequately represent genomic variations in other races. That sparked the collection of diverse samples like the African ancestry ones in 2015 (H3Africa). The data helps better understand risk factors for certain diseases in those of African descent and in the long run, will be used to develop diagnostics, interventions, and treatments. China, the US and the UK have each undertaken 100K projects to sequence 1,00,000 of their genomes.

Closer home, the government launched the ‘10,000 genome’ project to build a reference database that is representative of India’s diverse population. GenomeAsia 100K initiated in 2016 targeted major Asian populations (which despite accounting for 40 percent of world population represented just 6 percent of the recorded genome sequences until then). Data from this is already being applied — a study on Coronary Artery Disease (CAD) risk has drawn on GenomeAsia 100K data from India to arrive at a PRS for developing CAD in our population. Individuals can now learn their genetic risk element of potentially developing CAD and use this for preventive care - make lifestyle changes and get regular check-ups or even take the medication needed to manage the condition proactively.

Italy has been a forerunner in implementing a public health genomics policy with its ‘National Plan for Public Health Genomics’. The Department of Health in Australia brought out a National Health Genomics Policy Framework 2018–2021 to bring genomics into the mainstream Australian health system. The Stockholm healthcare system is including whole genome sequencing into their system to help with rare disease diagnosis. India launched the UMMID (Unique Methods of Management and Treatment of Inherited Disorders) Initiative to encourage genetic screening of pregnant women and newborn babies for certain inherited genetic diseases that our population is vulnerable to.

For insights derived from genetic screening to yield substantive results, it is imperative to concurrently leverage data obtained from genetic testing to construct a comprehensive database or cohort. This resource can then be effectively utilised to bolster public health efforts on a broader scale. Collaborative endeavours and partnerships among governmental agencies, researchers, healthcare providers, industry stakeholders, and community health organisations are essential in advancing public health genomics initiatives.

Findings from research endeavours and data amassed through genome projects like GenomeAsia 100K hold significant potential for identifying genetic predispositions to specific diseases, facilitating pharmaceutical development, managing rare diseases, enhancing diagnostics and genetic counselling, addressing non-communicable disease challenges, and even facilitating improved management of infectious disease outbreaks. Recently, data on rare and common genetic variations collated from the Genetics of PAN-India Young Onset Parkinson Disease (GOPI-YOPD) project in India was used to arrive at a polygenic risk score (PD-PRS) for Parkinson’s Disease. The study uncovered South Asia specific mutations that were unknown prior to this — a reminder that the collation of such genomic data and collaboration across borders is going to be a game changer for public health.

In the decades ahead, unlocking the power of groundbreaking advancements in genomics could hold the key to successful innovative public health initiatives that are accessible and cost-effective. As we navigate the complexities of global health challenges, the wealth of data and insights gleaned from genomic research can pave the way for a healthier and more resilient future for all.

Dr Vedam Ramprasad, CEO, MedGenome

Dr Vedam Ramprasad, CEO, MedGenome

(The writer is Chief Executive Officer, MedGenome, Views are personal.)