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

Since the Covid-19 pandemic, people’s perception of health has changed. Although the top 10 causes of death in India continue to be noncommunicable diseases such as diabetes, heart disease and respiratory diseases, these are easily preventable / manageable when addressed at an early stage through vital screenings and consultations at regular intervals. Additionally, routine testing could reduce the severity of rare disorders, including autoimmune deficiencies, and also help reduce cancer-induced mortality.

Preventive health care focuses on identifying future health problems early and protecting patients from possible diseases. The goal is to alert people to the 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, in the general improvement of health and in the early diagnosis of the disease through screening. Preventive tests include tests such as blood tests for sugar and cholesterol, tests to diagnose heart conditions, blood pressure monitoring, cancer screening, Pap smears, HIV, etc. Breast cancer is a common example among the female population. In 2020, there were 2.3 million women affected worldwide. Regular mammography exams can help in the early detection of cancer, thereby reducing deaths. Young children are given vaccinations such as DPT, BCG, chicken pox, hepatitis A&B, polio, and MMR to boost immunity and prevent disease. More recently, vaccines have been used to combat the Covid-19 pandemic.

The health prevention sector is rapidly capturing the imagination of the industry. This has also led to an exponential increase in the size of the market. Globally, the market was estimated at $ 3.411.99 billion in 2021. It is also expected to grow at an 8.32% CAGR to reach $ 5.512.89 billion by 2027. In 2019, healthcare preventive in India accounted for about 11% of total health care expenditure. It is estimated to grow 27.30% during 2020-25 to hit $ 197 billion by 2025. This has attracted more market players to the industry, helping consumers with cost-effective preventive health care alternatives.

Strong fundamentals are behind this growth. The health prevention sector is developing rapidly and exponentially. There has been a paradigm shift in the infrastructure, technique, manpower, equipment and efficiency of conducting these tests or examinations. Technology has changed the game of the industry. Quick and fast tests, with fast results, have allowed doctors to easily identify and address underlying medical conditions. Additionally, test results have become much more accurate as technology has progressed.

Parallel analysis and comparison of health data thanks to the huge existing health database also helped enormously. Digital access to this data has additional benefits. Advances in artificial intelligence, analytics, digitization 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 healthier lifestyles, which motivates them to take proactive steps to monitor their health indicators. Preventive healthcare has been found to significantly reduce healthcare costs, making healthcare accessible to those who may not be able to pay for expensive care.

Genetic screening is a particular area of ​​preventive health care, which is expanding rapidly. It can reveal changes in genetic makeup and genetic mutations, which could 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 the fetus during pregnancy), or other tissue is used for genetic testing. The exam is presented in the form of a report after a thorough evaluation of the results. There are several types of genetic tests available and others are in development. Prenatal and neonatal tests are also available.

Western countries have seen an increase in genome testing, which has created huge databases produced with sequence variations in the human genome. This in turn has led to making genome testing with predictions progressively more accurate. However, there is a lack of specific data for the Indian population to help predict diseases with accuracy. The United States Task Force of Preventive Services has recognized the benefits of genome testing, such as reducing the risk of disease and helping with diagnosis. As a result, genomic testing is available both clinically and through direct-to-consumer testing. The US-based National Human Genome Research Institute undertakes numerous research projects on this topic. Additionally, numerous authorities such as the Food and Drug Administration, Centers for Medicare and Medicaid Services, and the Federal Trade Commission are regulating genetic testing in the United States.

In India, an entity engaged in genetic or biological investigations or investigative services with the help of medical or laboratory equipment, may qualify as a clinical institution and may be required to comply with the legal framework accordingly.[1] In particular, the Clinical Establishment Act is central legislation. However, as health is a state subject, some states have mirrored their clinical institution legislation with central legislation while some states have their own clinical institution legislation which is different from central legislation. The compliance process would vary from state to state 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 software for the purpose of investigating human anatomy or physiological processes, it qualifies as a device medical and the manufacture or import of such devices must be carried out in accordance with applicable regulations.[2] All medical devices are regulated by a comprehensive set of regulations which, in particular, focus on the quality and safety of these devices. The definition and ambition covered by these rules have expanded by leaps and bounds with recurring notifications issued by the ministry.

Furthermore, these entities conducting genetic testing must ensure proper adherence to biomedical rules and guidelines, if in any form they collect, receive, store, transport, treat, dispose of or manage biomedical waste to ensure the safe handling and disposal of such Material.[3] Biological medical waste for this purpose would be any waste generated during the diagnosis, treatment or immunization of humans. It also has an additional environmental conservation perspective.[4]

Genetic testing has the potential to reveal data on 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. The 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 should be taken and due respect for body autonomy ensured. Ethical standards[6] The existing India for physicians sets clear requirements for obtaining adequate informed consent, in some cases even written consent from the patient or relatives concerned, as appropriate. These are drawn from the long-standing principles of respecting autonomy.

Doctors must pay attention and adhere to ethical standards while recommending laboratory tests. Ethical standards do not recommend routine testing.[7] Adequate standard of care must be adopted when administering such genetic testing in India.

In recent years, Indian authorities have become increasingly interested in genetic testing. An ICMR recognized organization has undertaken genome sequencing research for type 2 diabetes genetics. Moving forward, if genetic testing evolves as expected, we could see a solid legal framework in this area. The industry on its own initiative could take initiatives and voluntarily submit a best practice manual or a standardization of guidelines to regulate the industry. This will ensure public trust. In the coming years, advances in genetic testing could lead to widespread application in the understanding of cancer, rare diseases and prevailing noncommunicable diseases such as obesity, diabetes and cardiovascular disease. In the future, there is the possibility of creating genetic wearables, digital tools, etc., to make users aware of any genetic changes. This information can also be used to create personalized medicines. The possibilities are endless.

To date, any individual interested in furthering preventive health care can undergo genetic testing at will, without seeking medical attention. However, once the result comes out, you may need to consult with a qualified healthcare practitioner or genetics expert to understand the results and take a future course of action. The individual may also need to undergo additional diagnostic tests to come to a concrete conclusion about the person’s health status. This makes the field of genetic testing interdisciplinary in nature. Now it is up to eminent medical professionals to adapt to this change and rise to the occasion to help patients. This may require a review and update of medical knowledge so that doctors can keep up with developments in the field.

Preventive health care and especially genetic testing are constantly evolving and making significant progress. The journey is not without its difficulties. There are as many challenges as there are possibilities. Only time can tell how well each of us is equipped to adapt to these changes. Organizations operating in the area are required to exercise due caution and to comply with applicable laws and regulations to ensure the smooth running of their activities.

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