Since the Covid-19 pandemic, people’s perception of healthcare has changed. While the top 10 causes of death in India continue to be non-communicable diseases such as diabetes, heart disease and respiratory diseases, these are easily preventable/manageable if addressed early through vital check-ups and regular consultations. In addition, routine testing could reduce the severity of rare diseases, including autoimmune diseases, and also help reduce mortality from cancer.
Health care focuses on the early detection of future health problems and protects patients from possible diseases. The aim is to warn people about the possible consequences and occurrences of a specific disease or disorder before it occurs. It helps identify and minimize risk factors associated with potential diseases, improve overall health, and detect disease early through screening. Preventive tests include tests such as blood tests for sugar and cholesterol, tests to diagnose heart disease, pressure monitoring, cancer screening, Pap smear, HIV, etc. Breast cancer is an example that is common in the female population. In 2020, there were 2.3 million affected women worldwide. Regular mammography examinations can help in early detection of cancer and thereby reduce deaths. Young children receive vaccinations such as DPT, BCG, chickenpox, hepatitis A&B, polio and MMR to boost immunity and prevent disease. Most recently, vaccines have been used to combat the Covid-19 pandemic.
The field of healthcare is fast capturing the imagination of the industry. This has also resulted in an exponential increase in market size. Globally, the market was valued at $3,411.99 billion in 2021. It is further forecast to grow at a CAGR of 8.32% to reach $5,512.89 billion by 2027. In 2019, preventive healthcare in India accounted for about 11% of total healthcare spending. It is estimated that it will grow by 27.30% in 2020-25 to reach $197 billion by 2025. This has attracted more market players in this field and helped consumers with cost-effective health care alternatives.
Strong fundamentals underpin this growth. The field of health care is developing rapidly and exponentially. There has been a paradigm shift in infrastructure, technology, personnel, equipment and efficiency in conducting these tests or investigations. Technology has changed the game for the industry. Faster and faster tests with quick results have allowed doctors to easily identify and treat underlying medical conditions. In addition, as technology has advanced, test results have become much more accurate.
The parallel analysis and comparison of health data based on the huge existing health database also helped enormously. Digital access to this data has other advantages. Advances in artificial intelligence, analytics, digitization and deep learning have tremendous potential to understand and interpret big data used in health screening. Another important factor is the growing inclination of people towards a healthier lifestyle, which motivates them to take proactive measures to monitor their health indicators. Preventive healthcare has been found to significantly reduce healthcare costs and make healthcare accessible to those who may not be able to afford expensive treatments.
Genetic screening is a particular area of healthcare that is expanding rapidly. It can reveal changes in the genetic makeup and gene mutations that can cause future diseases. It identifies changes in chromosomes, genes or proteins and reveals huge information by analyzing a person’s DNA. Genetic testing uses samples of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissues. After a thorough evaluation of the results, the test is presented in the form of a report. There are several types of genetic testing, and more are being developed. Prenatal and newborn tests are also available.
Western countries have seen a surge in genome testing, creating vast databases of sequence variations in the human genome. This, in turn, has led to genomic tests with predictions becoming increasingly accurate. However, there is a lack of specific data for the Indian population to help accurately predict disease. The United States of America Preventive Services Task Force has recognized the benefits of genomic testing, such as reducing the risk of disease and aiding in diagnosis. Consequently, genomic testing is available both clinically and through direct-to-consumer testing. The National Human Genome Research Institute, founded in the USA, conducts numerous research projects on this topic. In addition, numerous agencies such as the Food and Drug Administration, the Centers for Medicare and Medicaid Services, and the Federal Trade Commission regulate genetic testing in the United States.
In India, an entity engaged in genetic or biological testing or testing services using laboratory or medical equipment may be considered a clinical entity and may be required to comply with the relevant regulatory framework. In particular, the Clinic Operating Act is a central law. However, since health is a state matter, some states have aligned their clinical facility statutes with the central legislature, while some of the states have their own clinical facility statutes that differ from the central statute. The compliance process would vary from state to state in this regard.
It is important to remember that if any device, instrument, apparatus, device, implant, material, etc. is used independently or in conjunction with any software for the purpose of studying human anatomy or physiological processes, it would be considered a medical device and the manufacture or import of such equipment must be in accordance with applicable regulations. All medical devices are subject to a comprehensive set of regulations that focus in particular on the quality and safety of these devices. The definition and scope covered by these rules has expanded by leaps and bounds through recurring notifications from the Department.
In addition, these facilities performing genetic testing must ensure proper compliance with biomedical rules and guidelines when collecting, receiving, storing, transporting, treating, disposing of, or handling any form of biomedical waste to ensure their safe handling and disposal of material. Biomedical waste in this sense would be any waste resulting from the diagnosis, treatment or immunization of humans. It also has an additional environmental protection perspective.
Genetic testing has the potential to reveal data about a person’s family history, paternity and maternity, medical history, predisposition to certain diseases, certain traits, etc. This can be very sensitive to the person. Medical history is considered sensitive information by law and must be treated with caution and in accordance with applicable law.
Informed consent plays a crucial role. Consent should be obtained and due respect for physical autonomy ensured. The ethical standards Existing India for Physicians sets out clear requirements to obtain proper informed consent, in certain cases even written consent from the affected patient or relatives, as the case may be. These are based on longstanding principles of respect for autonomy.
Physicians must exercise caution and adhere to ethical standards while recommending laboratory testing. Ethical standards do not recommend routine testing. Reasonable care must be taken when dealing with such genetic testing in India.
Indian authorities have become increasingly interested in genetic testing in recent years. An ICMR-recognized body conducted genome sequencing research for type 2 diabetes genetics. If genetic testing develops as expected, we may see a robust regulatory framework in this area in the future. Industry could take proactive initiatives and voluntarily provide a best practice manual or standardization of guidelines to regulate the area. This ensures public trust. In the years to come, advances in genetic testing could lead to widespread application in understanding cancer, rare diseases and common non-communicable diseases such as obesity, diabetes and cardiovascular disease. In the future there is an opportunity to create genetic wearables, digital tools, etc. to alert users to genetic changes. Such information can also be used to create personalized medicines. The possibilities are endless.
Starting today, anyone who wants to delve deeper into health care can have genetic testing of their own choosing, without having to consult a doctor. However, once the result is in, he may need to consult a qualified doctor or a genetics expert to understand the results and take future action. The person may also need to undergo additional diagnostic tests to provide a specific indication of the person’s health status. The field of genetic diagnostics is thus interdisciplinary. It is now up to the respected medical professionals to adapt to these changes and face the situation in order to help patients. This could require a revision and update of medical knowledge for medical professionals to keep up with developments in the field.
Health care and genetic testing in particular are subject to constant change and are making significant progress. The journey is not without difficulties. There are just as many challenges as opportunities. Only time can tell how well prepared each of us is to adapt to these changes. Organizations operating in the region must exercise due diligence and comply with applicable laws and regulations to ensure smooth business operations.