Genetic testing: a new approach to opportunities and challenges in preventive health care

Since the Covid-19 pandemic, people’s perception of healthcare has changed. While the top ten causes of death in India are still non-communicable diseases like diabetes, heart disease and respiratory diseases, they can be easily prevented/controlled if they are treated at an early stage through screening and vital counseling at regular intervals. Moreover, routine testing may reduce the severity of rare disorders, including autoimmune deficiency, and also help reduce cancer deaths.

Preventive healthcare focuses on early identification of future health problems and protects patients from potential illnesses. The goal is to warn people in advance about possible outcomes and the occurrence of a particular disease or disorder before it occurs. It helps in identifying and reducing risk factors associated with potential diseases, overall improvement of health and early detection of diseases through screening. Preventive tests include tests such as checking blood sugar and cholesterol, tests to diagnose heart disease, pressure monitoring, cancer screening, Pap smear, HIV, etc. Breast cancer is one example common in the female population. In 2020, there were 2.3 million affected women worldwide. Regular mammograms can help in early detection of cancer, and thus reduce mortality. Young children receive vaccinations such as DPT, BCG, chickenpox, hepatitis A & B, polio, and MMR to boost immunity and prevent disease. Recently, vaccines have been used to combat the Covid-19 pandemic.

The preventive healthcare sector is rapidly capturing the imagination of the industry. This has led to an exponential rise in market size as well. Globally, the market was estimated at $3,411.99 billion in 2021. It is also expected 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 expenditures. It is estimated to grow by 27.30% over the period 2020-25 to reach $197 billion by 2025. This has attracted more market players in the field, helping consumers with cost-effective preventive healthcare alternatives.

Strong foundations support this growth. The preventive healthcare sector is developing rapidly and exponentially. There has been a paradigm shift in the infrastructure, technology, manpower, equipment, and efficiency in conducting these tests or tests. Technology has changed the game for the sector. The rapid and rapid test, with rapid results, has enabled physicians to easily identify and treat underlying medical conditions. In addition, test results are becoming more accurate with advances in technology.

Parallel analysis and comparison of healthcare data has also helped due to the huge healthcare database that exists. Digital access to this data has other advantages. Advances in artificial intelligence, analytics, digitization, and deep learning have huge potential for understanding and interpreting the big data used in preventive screening. Another important factor is people’s increasing tendency towards a healthier lifestyle, which motivates them to take proactive steps to monitor their health indicators. It has been found that preventive healthcare significantly reduces healthcare costs, making healthcare more affordable for those who may not be able to pay for expensive treatments.

Genetic screening is a special area of ​​preventive health care, which is expanding rapidly. It can detect changes in genetic makeup and genetic mutations that may cause medical conditions in the future. It identifies changes in chromosomes, genes or proteins and reveals huge information by analyzing an individual’s DNA. A sample of blood, hair, skin, amniotic fluid (the fluid that surrounds the fetus during pregnancy) or other tissue is used for genetic testing. The examination is presented in the form of a report after a thorough evaluation of the results. There are multiple types of genetic tests available and more are being developed. Prenatal testing and newborn testing are also at the individual’s disposal.

Western countries have seen a rise in genome testing, which has led to the creation of huge databases that have been produced with sequence variation in the human genome. This, in turn, has made genome testing progressively more accurate with predictions. However, there is a lack of data for the Indian population that will help in predicting diseases accurately. The United States Preventive Services Task Force has recognized the benefits of genomic testing, such as reducing disease risk and aiding in diagnosis. Thus, genomic testing is available both clinically and through direct-to-consumer testing. The National Human Genome Research Institute, founded in the United States, conducts several research projects on this topic. Furthermore, many authorities 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 that engages in genetic or biological investigations or investigation services with the assistance of laboratories or medical equipment, may qualify as a clinical institution and may be required to comply with the legal framework accordingly.[1] The Clinical Incorporation Act is central legislation. However, as health is subject to the state, some states have reversed their clinical legislation with central legislation while some states have their own clinical foundation legislation which differs from central legislation. The compliance process may vary from country to country in this regard.

It is important to keep in mind that if any device, instrument, apparatus, apparatus, implant, material, etc., is used independently or in conjunction with a program for the purpose of investigating human anatomy or physiological processes, Qualify as a medical device and such devices must be manufactured or imported under applicable regulations.[2] All medical devices are subject to a comprehensive set of regulations that focus specifically on the quality and safety of these devices. The definition and scope covered by these rules have been expanded by leaps and bounds with frequent notifications issued by the Ministry.

Furthermore, those entities that conduct genetic testing are required to ensure appropriate adherence to biomedical rules and guidelines, if they are in any way collecting, receiving, storing, transporting, treating, disposing or handling biomedical waste to ensure its safe handling and disposal. . Material.[3] Biomedical waste for this purpose is any waste generated during the diagnosis, treatment or immunization of humans. It also has the added perspective of conservation.[4]

Genetic tests have the ability to reveal data about an individual’s family history, parenting, 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 should be treated with caution and in accordance with applicable law.[5]

Informed consent plays an important role. Consent must be obtained and due respect for bodily autonomy must be ensured. ethical standards[6] Existing India sets out for medical practitioners clear requirements for appropriate informed consent, even in some cases written consent from the patient or concerned relatives as the case may be. These are derived from the long-standing principles of respect for autonomy.

Physicians should exercise caution and adhere to ethical standards while recommending laboratory tests. Ethical standards do not recommend routine testing.[7] Appropriate standards of care must be taken while dealing with such genetic tests in India.

Indian authorities have become increasingly interested in genetic testing in recent years. A recognized body of ICMR has conducted research on genome sequencing for the genetics of type 2 diabetes. Going forward, if genetic testing develops as expected, we may see a strong legal framework in this area. The industry may spontaneously take initiatives and voluntarily come up with a best practice guide or standardize guidelines for regulating the field. This will ensure the confidence of the public. In the coming years, advances in genetic testing may lead to widespread application for understanding cancer, rare diseases, and prevalent non-communicable diseases such as obesity, diabetes, and cardiovascular disease. In the future, there is a possibility to create wearable genetic devices, digital tools, etc., to make users aware of any genetic changes. This information can also be used to create personalized drugs. The possibilities are endless.

As of today, any individual interested in delving into preventive health care can perform genetic testing of their own volition, without referring to any medical practitioner. However, once the result comes out, he/she may need to consult a qualified healthcare practitioner or genetics expert to understand the results and take a future course of action. The individual may also have to undergo further diagnostic tests to arrive at a tangible conclusion about the state of the person’s health. This makes the field of genetic testing multidisciplinary in nature. Now it is up to the eminent medical practitioners to adapt to this change and rise to the occasion in order to help patients. This may require a review and update of the medical knowledge of medical practitioners to keep abreast of developments in the field.

Preventive healthcare, especially genetic testing, is constantly changing and making great progress. The journey is not without its difficulties. There are as many challenges as possible. Only time can tell how prepared any of us are to adapt to these changes. Organizations operating in the region are required to take precautions and comply with applicable legislation and regulations to ensure the proper conduct of business.

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