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

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

Since the Covid-19 pandemic, the perception of health care has changed. While the top 10 causes of death in India continue to be non-communicable diseases like diabetes, heart disease and respiratory diseases, these are easily preventable/manageable if treated at an early stage through screening vital and to consultations at regular intervals. Additionally, routine testing could reduce the severity of rare diseases, including autoimmune deficiencies, and also help reduce cancer-induced mortality.

Preventive health care focuses on identifying future health problems early and protecting patients against possible illnesses. The goal is to warn people of potential outcomes and occurrences of a particular disease or disorder before it occurs. It helps in the identification and minimization of risk factors associated with possible diseases, overall health improvement and early detection of diseases through screening. Preventative tests include tests such as blood tests for sugar and cholesterol, tests to diagnose heart disease, blood pressure monitoring, cancer screening, Pap test, HIV, etc. Breast cancer is a common example in the female population. In 2020, there were 2.3 million women affected worldwide. Regular mammogram examinations can help in the early detection of cancer, thus reducing the number of deaths. Toddlers receive vaccines such as DPT, BCG, chickenpox, hepatitis A and B, polio, and MMR to boost their immunity and prevent disease. More recently, vaccines have been used to fight the Covid-19 pandemic.

The preventive health sector is quickly capturing the imagination of the industry. This has also led to an exponential increase in market size. Globally, the market was estimated at $3,411.99 billion in 2021. It is further expected to grow at a CAGR of 8.32% to reach $5,512.89 billion by 2027. In 2019, preventive health care in India accounted for about 11% of total health expenditure. It is estimated to grow by 27.30% during 2020-25 to reach $197 billion by 2025. This has attracted more market players in the field, helping consumers with alternatives of cost-effective preventive health care.

Strong fundamentals underpin this growth. The preventive health sector is growing 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 industry. Quicker, faster tests with quick results have made it easier for doctors to spot and treat underlying medical conditions. Additionally, test results have become much more accurate with advances in technology.

The parallel analysis and comparison of health care data due to the huge existing health care database has also helped immensely. Digital access to this data has other advantages. Advances in artificial intelligence, analytics, digitalization and deep learning have enormous potential for understanding and interpreting big data used in preventive screening. Another important factor is people’s growing inclination towards a healthier lifestyle, which motivates them to take proactive steps to monitor their health indicators. Preventive health care has been found to significantly reduce health care costs, making health care accessible to those who may not be able to afford expensive treatments.

Genetic testing is a particular area of ​​preventive health, which is growing rapidly. It can reveal changes in genetic makeup and genetic mutations, which can cause future medical conditions. It identifies changes in chromosomes, genes or proteins and uncovers enormous information by analyzing an individual’s DNA. A sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a 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 several types of genetic tests available and more are being developed. Prenatal tests and neonatal tests are also available.

Western countries have seen an increase in genomic testing, which has created huge databases produced with sequence variations in the human genome. This led to gradually making genome testing more accurate with predictions. However, there is a lack of data specific to the Indian population that would accurately predict diseases. The United States of America Preventive Services Task Force has recognized the benefits of genomic testing, such as reducing disease risk and aiding in diagnosis. Therefore, genomic testing is available both in the clinic and through direct-to-consumer testing. The National Human Genome Research Institute, established in the United States, undertakes many research projects on this subject. Additionally, many authorities like 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 investigative services using laboratory or medical equipment may be considered as a clinical establishment and may be required to comply with the legal framework in India. result.[1] Notably, the Clinical Institutions Act is central legislation. However, health being a state subject, some states have mirrored their clinical establishment legislation with the central legislation while some 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 keep in mind that if a device, instrument, device, implant, material, etc. is used independently or with software for the purpose of studying human anatomy or physiological processes, it is considered a medical device and manufacturing or importing such devices must be done under applicable regulations.[2] All medical devices are governed by a comprehensive set of regulations that include the quality and safety of these devices. The definition and scope covered by these rules has expanded by leaps and bounds with recurring notifications issued by the ministry.

In addition, these entities performing genetic testing must ensure compliance with biomedical rules and guidelines if, in any form, they collect, receive, store, transport, process, dispose of or handle biomedical waste in order to ensure safe handling and disposal of such waste. Material.[3] Biomedical waste for this purpose would be any waste generated during the diagnosis, treatment or vaccination of human beings. It also has an additional perspective of environmental preservation.[4]

Genetic testing has the potential to reveal data about an individual’s family history, paternity and maternity, medical history, predisposition to certain diseases, traits, etc. It can be very sensitive for the person. Medical history is considered sensitive information under the law and should be treated with caution and in accordance with applicable law.[5]

Informed consent plays a crucial role. Consent must be obtained and respect for bodily autonomy must be ensured. Ethical standards[6] The existing India for doctors lays down clear requirements to obtain proper informed consent, in some cases even written consent from the concerned patient or his relatives as the case may be. These are drawn from long-standing principles of respect for autonomy.

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

Indian authorities have become increasingly interested in genetic testing in recent years. A body recognized by the ICMR has undertaken genome sequencing research for the genetics of type 2 diabetes. In the future, if genetic testing evolves as expected, we could see a strong legal framework in this area. Industry on its own could take the initiative and voluntarily come up with a manual of best practices or standardization of guidelines to regulate the area. This will ensure public confidence. In the coming years, 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, it is possible to create genetic wearable devices, digital tools, etc., to inform users of any genetic changes. This information can also be used to create personalized medications. The possibilities are limitless.

Starting today, anyone interested in furthering preventative health care can undertake genetic testing of their own volition, without referral to a doctor. Yet, once the result is known, he may need to consult a qualified medical professional or genetics expert to understand the results and take future action. The individual may also need to undergo other diagnostic tests to reach a concrete conclusion about the person’s medical condition. This makes the field of genetic testing interdisciplinary in nature. It is now up to leading medical practitioners to adapt to this change and rise to the occasion to help patients. This might require a review and upgrading of medical knowledge for medical practitioners to keep up with developments in the field.

Preventive health care and in particular genetic testing is constantly evolving and making significant progress. The journey is not without difficulties. There are as many challenges as opportunities. Only time will tell how well equipped each of us is to adapt to these changes. Organizations operating in the area are required to exercise caution and comply with applicable laws and regulations to ensure the smooth operation of businesses.

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