Powering public health with genetics

Integrating genetic testing into public health settings has the potential to reform healthcare delivery. Making it affordable needs better strategies

NHS explains that genetic testing, sometimes called genomic testing finds changes in genes that can cause health problems. It’s mainly used to diagnose rare and inherited health conditions and some cancers.

Genetic testing can play an important role in managing the rising burden of various diseases like diabetes, certain types of cancer and others by eliminating the need for unnecessary checkups and screening tests and directing the person towards the best available options for prevention, treatment and monitoring the condition.

Raghavendra Goud Vaggu, Global CEO, EMPE Diagnostics also believes that “Globally, as genetics or the study of genes and their impact on human health and diseases continue to make advances, genome testing has come to acquire increased salience and traction. With time, it has moved from confined research environments to more active clinical diagnostics and clinical care settings. And India has been no exception. The pandemic has prompted a sharpened focus on preventive health in the country. And among preventive diagnostic techniques and methods, genetics testing has increasingly found more takers. As a country with a high genetic disease burden on account of its high population and the practice of consanguineous marriages in certain regions and communities, India is natural genetics testing market.”

Is it possible to incorporate genetic testing in public health settings?

The affordability and accessibility of genetic testing is a big issue. However, with the overall rise in healthcare cost and decline in quality of life, preventive healthcare needs more focus and genome testing has the potential to nip several healthcare challenges in the bud.

Answering this, Amol Naikawadi, Joint Managing Director, Indus Health Plus said, “Yes, incorporating genome testing in public health settings in India is indeed possible and can have several potential benefits. Preventive genetic testing has the potential to revolutionise healthcare in India by enabling early detection and intervention for various health conditions with genetic component like diabetes, cardiovascular diseases, PCOS, and thyroid. Genetic counseling and education programs can be integrated into public health settings to provide individuals with information about their genetic risks and help them understand the implications of genetic testing, and guide them in making informed decisions about preventive measures. These programs can be implemented in various settings, such as primary care clinics, community health centers, and public health campaigns, to increase awareness, knowledge, and utilisation of genetic testing for preventive purposes.”

One of the main advantages of integrating genetic testing into public health settings in India is the ability to identify individuals who are at a higher risk of developing certain diseases. For example, certain genetic mutations are known to increase the risk of breast cancer, and identifying individuals with these mutations can help to ensure that they receive appropriate screening and preventive measures. Similarly, genetic testing can also be used to identify individuals at risk of developing other diseases such as diabetes, heart disease, and certain neurological disorders.

Explaining its role of genetic testing in oncology and diabetes, Dr Aparna Rajadhyaksha M.D., M.B.A, Metropolis Healthcare said, “Genomic testing can also be useful in oncology. By understanding the genetic mutations and signatures of various types of cancer, researchers can develop targeted therapies and improve treatment outcomes. Governments can invest in research to identify genetic markers for cancer specific to their population and use this information to develop personalised treatment plans for patients. A national database of genetic information related to cancer could also be useful for research and clinical decision-making.”

“Another critical area where genomic testing can be utilised is to identify genetic risk factors for chronic diseases such as diabetes. Understanding the genetic basis of these diseases can help researchers develop better prevention and treatment strategies. Governments can invest in genomic research to identify genetic risk factors for chronic diseases in their populations and use this information to develop targeted prevention and treatment programs”, she added.

Another benefit of integrating genetic testing into public health settings is the potential to diagnose genetic conditions in children. Many genetic conditions are inherited from parents and can lead to a range of health problems, developmental delays, and disabilities. Early diagnosis of these conditions can help to ensure that affected children receive appropriate treatment and support, which can improve their quality of life and long-term outcomes.

In addition to these benefits, integrating genetic testing into public health settings in India can also help to improve the accuracy of diagnoses and treatment plans. For example, genetic testing can help to identify the specific genetic mutations responsible for a particular disease or condition, which can help healthcare providers to develop more targeted and effective treatment plans. This can lead to better outcomes for patients and reduce the need for trial-and-error approaches to treatment.

Genetic testing can improve public health in the following ways

Will the volumes entice players to make D2C genetic testing more affordable?

Furthermore, the large and diverse population in India represents a significant market opportunity for companies offering genetic testing services. By providing affordable and accessible D2C genetic testing options, companies could tap into this market and potentially achieve economies of scale that could help to further drive down prices

The volumes of genetic testing in India could entice players to make direct-to-consumer (D2C) genetic testing more affordable. With the rise in awareness and more people opting for genome testing, the demand for testing options is likely to increase, which could lead to increased competition among providers and lower prices for consumers.

Dr Rajadhyaksha said, “Genetic testing is not yet developed enough to be offered as D2C testing in India, so the question of whether volumes will entice players to make it more affordable may not be immediately relevant. However, if and when genetic testing does become advanced and accessible, there is potential for D2C genetic testing to be offered in India. Infectious diseases could be an area where D2C genetic testing could be beneficial. With high volumes of infectious disease cases in India, there could be a demand for rapid and accessible testing. D2C genetic testing for infectious diseases could potentially help patients obtain appropriate care in a timely manner. However, it is important to ensure that any D2C genetic testing services are accurate, reliable, and adhere to appropriate ethical and privacy standards.”

According to Dr Gautam Wankhede, Director-Medical Affairs, Mylab Discovery Solutions, “The D2C genetic testing industry is fragmented, comprising a few big players and small start-up companies offering D2C genetic tests at lower costs. The rise in the prevalence of chronic diseases, technological advancements in next-generation sequencing and the introduction of personalised testing kits for niche therapeutic areas will aid the rapid expansion of DTC genetic testing, which will lead to cost reduction of tests. Due to increasing awareness among healthcare providers, clinicians and patients, there is now more willingness to opt for genetic testing both to identify the underlying cause of disease and to better understand the treatment options. This has also gone beyond just disease diagnosis now such as athletes using information from genetic testing to decide the best training regimes for optimum physical performance.”

Dr Amrit Kaler, Consultant, Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, “With the increase in the volume of genetic testing, the economics of scale comes into play by making it more cost-effective. The cost of genetic testing is based on the cost of equipment and supplies, the complexity of the testing process, and the need for skilled personnel to interpret test results. The number of genetic tests can be increased by awareness of its implications. Education about the personalised medicine can help to understand the disease process and motivate people to get themselves genetically tested.

The present era of genomics in research and development is definitely taking a turn towards patient centric diagnostic protocols. For example, the identification of health conditions like cancer or cardiovascular diseases, and neurological diseases can accessorise patients with the right genetic test with the help of trained geneticists, which also can decrease the burden of unnecessary data generation. To prevent the burden of genetic disorders, routine screening of high-risk pregnant women can be made available to the general population to help identify genetic risks early. In cancer patients, genomic testing can predict optimal chemotherapy regimens, or predict the likelihood of drug response or toxicities and avoid exposing patients to ineffective or overly toxic regimens.”

Talking about the cost, Anand K, CEO, SRL Diagnostics added, “Costs of genetic testing will eventually decrease as economies of scale increase, but significant R&D and indigenisation will be needed to get costs down to the point where extremely large-scale democratisation is feasible. For this to happen, the government needs to incentivise R&D for genomics and also create new avenues for industry academia collaboration.”

However, there are also factors that could limit the affordability of D2C genetic testing in India. For example, the cost of developing and maintaining the necessary infrastructure for genetic testing may be high, and regulatory hurdles could add to the cost of doing business in India. Additionally, there may be cultural barriers to the adoption of D2C genetic testing, which could limit demand and impact pricing.

Sachidanand Upadhyay, MD & CEO, Lord’s Mark Industries highlights that affordability, such as the regulatory landscape, ethical considerations, and customer preferences may limit the impact of volumes on affordability. He said, “The regulatory environment for D2C genetic testing is still evolving and can vary across countries, with some countries imposing stricter rules and standards that may increase costs and barriers to entry. Some customers may also prefer to consult with healthcare providers before or after taking a D2C genetic test, which may add to the overall expenses of testing. Additionally, ethical considerations around data privacy and the use of genetic information may also affect the affordability of D2C genetic testing. One potential solution is to leverage the advancements in artificial intelligence and cloud computing to reduce the cost and complexity of genomic analysis. Machine learning algorithms and distributed computing platforms can process large amounts of genomic data faster and more accurately, enabling more people to access genomic testing services through online platforms or mobile devices.”

Overall, while the volumes of genetic testing in India could potentially entice players to make D2C genetic testing more affordable, there are several factors that could impact pricing and accessibility. It will be important for companies to carefully consider these factors as they develop and implement their strategies for offering genetic testing services in India.

Dr Arjun Dang, CEO, Dr Dangs Lab considers investment, expertise and complexity as some of the challenges in making genetic testing affordable. He explains that developing new genetic tests and technologies requires significant investment in research and development. These costs can be passed on to consumers, making testing more expensive. Genetic testing involves complex processes, and the cost of these processes can be high. It can also require specialised equipment and highly trained professionals to conduct the tests. Interpreting genetic testing results requires expertise in genetics, bioinformatics, and statistics. Analysing genetic data is a complex process, and the tools required to do so can be expensive. These challenges need to be negotiated to provide affordable genetic testing.

Dr Prashant Kumar, Chief Scientific Officer, Karkinos Healthcare also believes that “Efforts such as government funding, insurance coverage, and partnerships with private companies could make the testing more affordable to people. Attempts are required to expand the availability of genetic testing facilities to rural and remote areas as well. When the demand increases companies may be able to reduce the costs and offer more affordable pricing. However, it is important to note that the affordability of genetic testing is not only determined by the volume of testing, but also by other factors such as the cost of equipment and technology, regulatory requirements, and intellectual property considerations.”

How do we democratise genetic testing?

Public-private partnerships could help to bring down the cost of genetic testing by leveraging the resources and expertise of both the public and private sectors. Also, by investing in technologies, providers may be able to offer more affordable testing options. Regulations and policies can also help to ensure that genomic testing is conducted ethically and with appropriate privacy protections, which can help to build public trust in the technology. Additionally, policies that promote the use of genomic testing in public health settings may help to drive down costs by increasing demand for testing services.

By taking these steps, it may be possible to democratise genomic testing and make it more affordable in India.

Dr Amrutraj Zade, Principal Scientist, Head of R&D, HaystackAnalytics believes that democratising genomic testing will require a collaborative effort. He added, “Democratising genomic testing in India is essential to ensure everyone can benefit from its potential. The government can take several steps to reduce the cost of genomic testing, such as creating a regulatory framework, encouraging the establishment of more genomic testing laboratories, promoting research and development in genomic testing, educating people about its benefits, regulating the cost of genomic testing, establishing a national genomic database, and providing insurance coverage for genomic testing. It is important to note that democratising genomic testing will require a collaborative effort from the government, private companies, and the public. However, the benefits of democratising genomic testing are vast, and it is a step towards making healthcare more accessible and affordable for everyone in India.”

Considering insurance coverage as one of the ways to democratise genomic testing, Dr Kaler said, “The government and private sector can introduce Insurance coverage for a middle-income population which can cover the cost of genomic testing, making it more affordable. This approach can encourage more people to undergo genomic testing in diagnosed cancer patients which will help in understanding the course of disease. The challenge faced is the difficulty of deciding when to reimburse for genetic tests, which can be solved by getting approval or consent from the treating doctor.”

Naikawadi explains that encouraging local manufacturing of genetic testing kits and platforms within India can potentially reduce costs associated with importing such technologies. While affordability is important, it is equally crucial to maintain quality and standards in genomic testing to ensure accurate and reliable results. Implementing robust quality assurance measures, accreditation programs, and regulatory oversight can help maintain quality while making testing more affordable.

Acharya also highlights that improving the ease of use of the genomic tests and making them accessible pan-India, will also help improve access and contribute to democratisation of genomic testing.

Way forward

Integrating genome testing into public health settings has the potential to reform healthcare delivery. However, making it affordable and more accessible needs better strategies and requires a collaborative effort from policymakers, providers, and the public to achieve this goal.








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