Genetic Testing

Since the Covid-19 pandemic, people’s perception of healthcare has undergone a change. While the top 10 causes of death in India continue to be non-communicable diseases like diabetes, cardiac diseases, and respiratory diseases, these are easily preventable/ manageable if addressed at an early stage through vital screening and consultation at regular intervals. Furthermore, routine testing might reduce the severity of rare disorders, including auto-immune deficiencies, and also help lower cancer-induced mortality.

Preventive healthcare focuses on early identification of future health problems and protects patients from possible illnesses. The goal is to forewarn people about potential outcomes and occurrences of a particular disease or disorder before it happens. It helps in the identification and minimisation of risk factors associated with possible diseases, overall improvement of health and early disease detection through screening. Preventive testing includes tests such as blood test for sugar and cholesterol, tests to diagnose heart conditions, pressure monitoring, cancer screening, Pap smear, HIV, etc. Breast cancer is one example that is common among the female population. In 2020, there were 2.3 million afflicted women worldwide. Regular mammography exams can assist in early cancer detection, thereby lowering deaths. Toddlers receive vaccinations such as DPT, BCG, Chicken Pox, Hepatitis A&B, Polio, and MMR to boost immunity and prevent sickness. Most recently, vaccines were used to combat the Covid-19 pandemic.

The preventive healthcare sector is rapidly capturing the imagination of the industry. This has led to exponential rise in the market size as well. Globally, the market was estimated at $3,411.99 billion in 2021. It is further projected to grow at an 8.32% CAGR to reach $5,512.89 billion by 2027. In 2019, preventive healthcare in India accounted for about 11% of the overall healthcare expenditure. It is estimated to grow at 27.30% during the 2020-25 period to touch $197 billion by 2025. This has attracted more market players in the field, helping consumers with cost-effective preventive healthcare alternatives.

Strong fundamentals underpin this growth. The preventive healthcare sector is developing rapidly and exponentially. There has been a paradigm shift in infrastructure, technique, manpower, equipment, and efficiency in conducting these tests or examinations. Technology has changed the game for the sector. Swift and speedier testing, with fast results, has enabled doctors to spot and address underlying medical conditions easily. Additionally, test results have become much more accurate with the advancement in technology.

Analysing and comparing healthcare data parallelly because of the huge, existing healthcare database has also helped tremendously. Digital access to this data has further advantages. Advances in artificial intelligence, analytics, digitisation, and deep learning have tremendous potential to comprehend and interpret big data used in preventive screening. Another important factor is the growing inclination of people towards a healthier lifestyle, which motivates them to take proactive steps to monitor their health indicators. It has been found that preventive healthcare significantly lowers healthcare costs, making healthcare accessible to those who may not be able to pay for expensive treatments.

Genetic screening is a particular area of preventive healthcare, which is expanding rapidly. It can reveal changes in genetic makeup and gene mutations, which may cause future medical conditions. It identifies changes in chromosomes, genes, or proteins and unravels huge information by analysing an individual’s DNA. A sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a foetus during pregnancy), or other tissues are used for genetic examinations. The examination is presented in the form of a report after thorough evaluation of results. There are multiple types of genetic testing available and more are being developed. Prenatal testing and new-born testing are also at one’s disposal.

Western countries have seen a rise in genome testing, which created huge databases produced with sequence variation in the human genome. This in turn has led to progressively making genome testing more accurate with predictions. However, there is lack of data, specific to the Indian population that will help predict diseases accurately. The United States of America Preventive Services Task Force has acknowledged the benefits of genome testing, like reduction of disease risk and aid in diagnosis. Consequently, genomic testing is available both clinically and through direct-to-consumer testing. The National Human Genome Research Institute, established in the US, undertakes numerous research projects on this subject matter. Further, numerous authorities like Food and Drug Administration, the Centres for Medicare and Medicaid Services, and the Federal Trade Commission are regulating genetic tests in the US.

In India, an entity which engages with genetic or biological investigations or investigative services with the aid of laboratory or medical equipment, may qualify as a clinical establishment and may be required to comply with the legal framework accordingly.[1] Notably Clinical Establishment Act is a central legislation. However, health being a state subject, certain states have mirrored their clinical establishment legislation with the central legislation while some of the states have their own clinical establishment legislation which is different from the central legislation. The compliance process would vary from state to state in this regard.

It is important to bear in mind that if any device, instrument, apparatus, appliance, implant, material, etc., is used independently or along with a software for the purpose of investigation of the anatomy or of physiological processes of humans, it would qualify as a medical device and manufacture or import such devices are required to be done under the applicable regulations.[2] All medical devices are governed by a comprehensive set of regulations that, in particular focusses on quality and safety of these devices. The definition and ambit covered by these rules have been expanding by leaps and holds with recurring notifications issued by ministry.

Furthermore, these entities conducting genetic testing have to ensure proper adherence to bio-medical rules and guidelines, if they in any form collect, receive, store, transport, treat, dispose, or handle bio medical waste to ensure safe handling and disposal of such material.[3] Bio medical waste for this purpose would be any waste which is generated during the diagnosis, treatment or immunisation of human beings. It also has an added environmental preservation perspective.[4]

Genetic testing has the potential to reveal data about an individual’s family history, paternity and maternity, medical history, predisposition to certain diseases, certain traits, etc. This can be highly sensitive to the person. Medical history is considered sensitive information under the law and is required to be dealt with caution and in compliance with applicable law.[5]

Informed consent plays a crucial role. Consent should be taken and due respect to bodily autonomy should be ensured. The Ethical Standards[6] existing India for medical practitioners lay down clear requirements to obtain proper informed consent, in certain cases even written consent from the concerned patient or relatives as case may be. These are drawn from the long standing principles of respecting autonomy.

Physicians must exercise caution and adhere to ethical standards while recommending lab testing. Ethical standards do not recommend testing in a routine manner.[7] Proper standard of care must be taken while dealing with such genetic testing in India.

Indian authorities have become increasingly interested in genetic testing in recent years. An ICMR recognised body undertook research on genome sequencing for the genetics of Type 2 diabetes. Going ahead, if genetic testing evolves as expected, we may see a robust legal framework in this area. The industry on its own accord might take initiatives and voluntarily come up with a best practice manual or standardisation of guidelines to regulate the field. This will ensure public trust. In the coming years, advancement in genetic testing may lead to widespread application in understanding cancer, rare diseases, and prevalent non-communicable diseases such as obesity, diabetes, and cardiovascular. In the future, there is a possibility of creating genetic wearables, digital tools, etc., to make users aware of any genetic changes. Such information can also be used to create personalised drugs. The possibilities are endless.

As of today, any individual interested in delving deeper into preventive healthcare can undertake genetic testing at their own will, without referring to any medical practitioner. Yet, once the result is out, s/he may need to consult a qualified healthcare practitioner or a genetics expert to comprehend the outcomes and take future course of action. The individual may also have to undergo further diagnostic tests to reach a concrete conclusion about the status of the person’s health. This makes the field of genetic testing interdisciplinary in nature. Now it is up to eminent medical practitioners to adapt to this change and rise to the occasion in order to help patients. This might require a revision and upgradation of medical knowledge for medical practitioners to keep up with the developments in the field.

Preventive healthcare and in particular genetic testing are continually changing and making significant progress. The journey is not without its difficulties. There are just as many challenges as there are possibilities. Only time can tell how well equipped any of us is to adjust to these changes. The organisations operating in the area are required to take due caution and comply with applicable legislation and regulations to ensure smooth running of businesses.

[1] The Clinical Establishment (Registration and Regulation) Act, 2010

[2] The Medical Devices Rules, 2017

[3] The Bio-Medical Waste Management Rules, 2016.

[4] Environmental Protection Act, 1986.

[5] Information Technology (Reasonable Security Practices and Procedures and Sensitive Personal Data or Information) Rules, 2011; Information Technology Act, 2000.

[6] Indian Medical Council (Professional Conduct, Etiquette, and Ethics) Regulations, 2002.

[7] Indian Medical Council (Professional Conduct, Etiquette, and Ethics) Regulations, 2002.