By Dr Ashok Gopinath
The increasing popularity of preventive genetic tests among Indians is transforming the landscape of healthcare. The field of genetic testing has broadly been used in two main areas: Historically, the specialized clinical diagnostic space, where certified healthcare professionals with appropriate training to comprehend the significance and implications of genetic tests prescribe these tests to patients and high-risk relatives of patients, and the emerging area of consumer genomics where individuals “pre-symptomatically” take charge of unraveling their own genetic predispositions by opting for preventive genetic tests. In both these use cases, it is very important to emphasize that any interventional action must be conducted only in consultation with a qualified and certified Healthcare professional.
In the evolving area of consumer genomics, these tests provide valuable insights for individuals, and they also serve as a means to alert them if a visit to a doctor is necessary. It is important to reiterate here that any “actionability” or “interventional activity” based on these genetic tests MUST be done only under the guidance and supervision of a certified clinical professional. As the adoption of genetic testing continues to rise, it is gradually becoming an integral part of both personal health journeys and the broader healthcare system, although it may still take several more years to fully incorporate it into the curriculum and mainstream Public Health practices.
Understanding Preventive Genetic Testing
Preventive genetic testing, as the name implies, involves taking a test before any clinical symptoms manifest. In certain cases, clinicians may recommend such testing, for example, if a family member has been diagnosed with a genetically-linked cancer. This approach allows doctors to prescribe testing for other family members. While individuals who have already been diagnosed with cancer or have survived it are referred to as cancer patients or survivors, those who undergo genetic testing without having the disease are known as ‘cancer previvors’. Their genetic makeup can predispose them to a higher likelihood of developing the disease. Being identified as a previvor carries its own implications, requiring clinical supervision and involving lifestyle interventions such as dietary adjustments and regular screenings. These considerations fall solely within the purview of certified healthcare professionals.
Consumer genomics focuses on the utilization of preventive genetic testing driven largely by people’s curiosity to uncover insights about their genetic predispositions. The two primary motivations for individuals pursuing genetic testing are – one, satisfying their curiosity, and two, addressing concerns stemming from family history or a specific disease.
Genetic Testing as a part of preventive health
There is a noticeable increase in the desire for self-empowerment in various fields of preventive healthcare, and genetic testing is no exception. People are increasingly driven to understand their health, equip themselves with knowledge, and take charge of their future actions. Genetic testing is becoming more relatable and accessible to a wider audience. In a similar manner to the rising number of people going to gyms or taking up fitness activities, this trend is fueled by the growing awareness of how physical fitness and activities contribute to a healthier lifestyle.
Education and awareness play a vital role in the adoption of any health and wellness intervention, and genetic testing follows a similar trajectory. Year by year, we witness an increasing acceptance and uptake of genetic testing within the community. Moreover, a significant contributing factor to this trend is the decreasing cost associated with genetic testing over time. As the barriers to entry lower, individuals are more inclined to explore and invest in the valuable insights that genetic testing can provide for their health management under the supervision and guidance of a certified healthcare expert.
Accessibility and affordability
In 2003, the National Institute of Health in the USA spent $2.7 billion and took 13 years to achieve the sequencing of a single human genome. However, today, it is theoretically possible to accomplish the same task within 24 hours at a cost of only $200. The remarkable progress in reducing the cost of genetic sequencing has made it highly accessible to individuals who are interested in enhancing their understanding of health and wellness.
In India the disposable personal income of individuals is constantly rising. This factor combined with the dropping prices of genetic testing has created an environment where people have the luxury to be curious and explore new technologies that impact their health..
The last decade has witnessed a significant accumulation of genetic information and genomic data, largely driven by sequencing human genomes. This data is stored in vast databases that serve as repositories largely from publicly funded research projects. Despite the accumulation of more information, it is essential to acknowledge that we are only at the beginning of a continuum in collecting information for better clinical outcomes from genetic studies. Currently, only approximately 2% of the functionality of the human genome is defined. Notably, the Clinvar database, established in 2013, started with fewer than 100,000 registered variations, today houses over a million variations with associated outcomes, showcasing greater than a tenfold increase in our understanding of disease-causing or disease-impacting variants.This is only expected to increase in the future.
While it is good to be optimistic about the future, it is in equal measure important for organizations that offer genetic tests to self-regulate and and responsibly direct users to certified healthcare professionals in order to understand the outcomes of their tests. .
The Future of preventive genetic tests
Over the past decade, people have increasingly taken ownership of their health, thanks to the abundance of information available at their fingertips. Governments and Insurance Organisations have understood the preemptive value provided by these tests and the positive impact it can have on Public Health policy.
In the UK, there is a very strong push to conduct pharmacogenomics testing as a routine part of clinical practice. In 2023, the first ever NHS pilot of routine genetic testing to guide drug choice in primary care is set to begin and it might become a national programme if successful. Each individual metabolizes drugs differently, making certain drugs highly effective with lower dosages, while others are rendered ineffective. In cases of neurological conditions, it can take up to six months to realize that a drug is not working. By conducting genetic tests, it becomes possible to determine which drugs and doses are better suited for each individual, thereby reducing delays in effective therapy and costs caused by trial and error approaches.
Aside from the clinical value it offers, preventive genetic testing also carries economic benefits for communities. It can significantly improve the health economics of a state or country. By embracing these tests, a large population can experience a positive socio-economic impact, making it a game changer.
(The author is a Partner Development Head, Strand Life Sciences. The article is for informational purposes only. Please consult medical experts and health professionals before starting any therapy, medication and/or remedy. Views expressed are personal and do not reflect the official position or policy of the FinancialExpress.com.)