Genetics and Genomics, though perceived to be same, have a vast difference and are classified differently as well. While genetics is the study of an individual gene, genetic variation and heredity, genomics is the science of studying human genes to understand the likelihood or risk of an individual towards a disease. Numerous recent advancements in genetic technology and human genome research have made it certain that both genetics and genomics will become increasingly vital for improved healthcare infrastructure and enhanced patient outcomes in the future.
By: Neelam Jhangiani
The size of the industry is pegged at Rs. 300-400 crore, which has been growing at a rate of 30% annually over the past couple of years. There are more than 30 laboratories in India, which are doing genetic testing. More and more testing is now happening inside Indian labs, leading to a better turnaround time and lowering of costs. Thus, it can be presumed that the future of genetics and genome is poised to have a profound impact on the overall healthcare system in India.
At a global level, China has been one of the leading players that has been studying millions of people since 2004-2008 to lessen the burden of genetic diseases, which include the development of new tests. Similarly, in order to gain genomic revolution, India also needs to collect genetic information and accordingly train manpower to make them capable of interpreting the information. “Our country should develop a vision to leverage the study and begin its own genomics revolution,” says Aparna Dhar, Lead Medical Geneticist and Genetic Counsellor, CORE Diagnostics.
Where does India stand?
Across the world, predictive diagnosis and precision medicine based on the genetic makeup of patients are emerging fields in the treatment of diseases such as cancer and other genetic disorders. The global predictive genetic testing and consumer/wellness genomics market was valued at $2.24 billion in 2015, and is expected to double to $4.6 billion by 2025. The field is growing. Even tech giants like Google are now showing interest. Recently, Google announced that it has developed a new tool, DeepVariant, which utilises artificial intelligence (AI) to try and develop a better understanding of our genome.
Genetics as a domain has seen tremendous development in India in recent years. In terms of growth, technology and talent, it seems India is not very far behind from the rest of the world. “When it comes to the adoption of testing, we are currently 5-6 years behind the US, but rapidly catching up,” says Anu Acharya, CEO, MapMyGenome India Limited.
This would be similar to the use of mobile phones. India skipped some initial technology but the sheer number of phones today have skyrocketed. “While, India has not achieved much when it comes to cancer genomics as most of the research is being done in USA and European countries, we have the ability to leapfrog,” says Dr. Pramod Kumar Julka, Senior Director, Oncology, Max Institute of Cancer Care.
The Genome India project will aim to make predictive diagnostic markers available for some priority diseases such as cancer and other rare and genetic disorders. India has joined the list of countries that have ongoing genome mapping programmes, except for the fact that participants in China and the US number over a million, while the UK is gene mapping 100,000 people. While India’s project is targeting just 10,000. Thus, the next target for India will be to scale up the project to add more participants and bring down the project cost.
There have been significant technological advancements, popularly known as Next Generation Sequencing (NGS) technology, which have enabled fast sequencing of genomes at an affordable cost. In addition, the integration of personal genomics data has provided opportunities to view the temporal dynamics of genomics profiles in an individual. These advances have brought in a paradigm shift in current practices of medicine. Genome sequencing has significantly impacted the understanding of genetic variants and their association with diseases. Now a days, exome and genome sequencing are increasingly being used to investigate the genetic bases of diseases including both monogenic as well as complex diseases such as cancer.
“Completion of the human genome project has opened opportunities for a new era of genomic medicine,” says Dr. Ravi Gaur, COO, Oncquest Labs. This has a tremendous impact on diagnosis, treatment, and preventive care related to genetic diseases. The field of genetics relies heavily on distinguishing the changes in DNA causing a particular trait from the changes, which are benign and are of no particular significance. This varies from population to population and India has a very heterogeneous population with big genetic diversity. Thus, there is an urgent need to have a database specific to India. The population structure, characterised by multiple cultural groups with specific marriage patterns, makes the Indian population distinct from rest of the world and provides a unique advantage and niche to understand genetic diseases. There is high prevalence of recessive alleles, translating into many genetic diseases, including rare genetic diseases.
While both private players and government are doing some research in the field of genetics, there is a need to consolidate this data and thus establish a base line, which will help to diagnose specific diseases. “The Institute of Genomics and Integrative Biology (IGIB) has recently completed the 1000 genome project, wherein they have tried to elucidate the allele frequencies on the Indian population,” informs Dr. Arvind Lal, Chairman & Managing Director, Dr. Lal PathLabs Ltd. “This will help to create the baseline data, which can then be used to promote more research and to define what changes in the DNA lead to which disease. The need to consolidate data of various labs was also discussed by the stakeholders with DBT, which is now working to establish India specific databases.”
The relation with rare diseases
As per the Indian Council of Medical Research (ICMR), a disease is identified as rare if it impacts over 2,500 individuals, for example, the rapidly spreading disease – ‘Coronavirus’. Till now, about 450 rare diseases have been recorded in India resulting in an overwhelming economic burden.
The application of genomics is expanding beyond clinical and diagnostics lens with accelerated diagnosis and management of rare and difficult diseases like cancer and many other chronic disorders. The last decade has seen tremendous growth, applications and awareness of genetic laboratory diagnostic industry.
“Despite over 70 million individuals being affected by rare diseases, India has limited resources committed to treating or understanding rare diseases,” Dr. Gaur says. In recent years, ICMR has taken steps toward bridging the gap between patients suffering from rare genetic diseases and healthcare providers. Molecular diagnostics, counselling, and research are now taking a holistic approach to manage blood disorders, metabolic disorders, muscular dystrophies, Down syndrome and much more.
“With the incidence of hereditary and congenital diseases increasing in India, there is a dire need for adequate and effective genetic testing and counselling services,” says Ms. Dhar. However, having taken a step ahead in this field, India has recently concluded a pilot project, IndiGen, mapping genomes of more than 1,000 people across the country.
Back in 2013, when India’s first personal genomics test was launched, there weren’t many takers. People were curious, but they were waiting for more information about the test and its benefits. “The milestones have not yet been achieved by researchers in India due to limited availability of labs and resources,” says Dr. Julka. More organisations need to undertake research so that this can be brought for better medical results, he adds. However, today increasing number of people are taking charge of their health. They are open to new technologies to mitigate disease risk and to live a healthy lifestyle.
“Healthcare professionals are more likely to opt for genetic investigations for better diagnosis and treatments,” says Ms. Acharya of MapMyGenome. We have even started to see doctors recommend consumer genomics tests, she adds.
Is pricing a deterrent?
Genetic testing has diverse purposes; one can utilise it to predict a predisposition to a disease, targeted therapy or abnormalities in the foetus. However, many of the genes related diseases do not have relevant therapy. There are more than 25000+ genes in the human genome, out of which only 400-500 genes have relevant therapy available. While a genetic test varies anywhere between INR 5,000 and INR 5,00,000, the more important aspect is the counselling session with the healthcare provider that can help to zero in on the correct test out of the plethora of choices.
There is a difference between genetic tests performed to screen for disease and testing conducted to establish a diagnosis. As the awareness and understanding of clinical applicability grows, the prices are bound to come down. While diagnostic tests are intended to definitively determine whether a patient has a problem, they are generally complex tests and commonly require sophisticated analysis and interpretation. They can be expensive and are generally performed only on people believed to be at a risk, such as patients who already have symptoms of a specific disease.
A good screening test is relatively inexpensive, easy to use and interpret, and helps identify which individuals in the population are at higher risk of developing a specific disease. An important part is to visit a genetic counsellor or a healthcare professional. They are trained professionals that play a key role in helping patients and their families get the care that’s right for them. They work with patients and their families to help them understand genetic testing, guide them through the process and help them make informed choices based on their genetic testing results. All genetic testing is not expensive. “Many tests are affordable, at CORE we offer genetic testing to an entire spectrum of society,” Ms. Dhar says.
Past few years have seen a drastic fall in the price of genomic testing and private and public facilities are working towards making it more affordable for patients. Dr. Lal PathLabs too have worked on this front and have collaborated with IGIB and have in-licensed technologies for the tests, so that they can be offered to the masses at an affordable price.
The decrease in sequencing cost is tightly linked to the increase in sequencing throughput of the “next generation” sequencers. Experts opine that competitive higher throughput instruments, availability of less expensive chemistry and parallelisation of sequencing reactions, which allows to run a large number of parallel sequencing reactions in a relatively small instrument will play a significant role in decreasing costs further. “We, the private players, need to join hands with the government colleges and institutes to provide India specific solutions on this subject,” says Dr. Lal.
MapMyGenome too is working with corporates and have added EMI schemes and more for patient convenience and also plans to keep bringing down the test prices. Government subsidies and funding, improved education on the benefits of genetics, increased awareness among medical professionals are some of the other ways to address the challenge, as per Ms. Acharya.
Cancer genomics is a major concern as it is extremely expensive and rare in India. “The costs can only be brought down with more organisations undertaking genomics research and people studying this subject,” Dr. Julka says. Another way to this is having branches of USA or European labs in our nation so that this can be made available for everyone irrespective of their economic condition, he adds. While the government needs to come up with initiatives to address the high cost, insurance companies on their part need to come forward and offer customised plans.
A look at the driving forces for this sector
Genetic diversity of India is the driver of high-genetic disease prevalence. With growing awareness, more focus on early diagnosis and prevention has taken an aggressive growth path. Genetic testing has huge role in prediction, prevention, very early diagnosis, prognosis and disease monitoring. According to research estimates, the industry is set to grow exponentially. While, India still has a long way to go in this domain, some of the driving forces include growth in other technologies, demand for personalisation, and the boom in the wellness industry. It’s going to be an integral part of precision medicine, personalised care and target based therapies. “Assays like BRCA 1&2, Clinical Exome, Whole Exome, Whole genome, New-born screening at a nation-wide level, have a huge role to play in defining a disease and refining the therapy,” says Dr. Gaur.
Unfortunately, many countries lack the availability of researchers and professionals trained in genetics and genomics, to address this increase in burden of diseases. The global genomics market is estimated to grow by 8.6% and reach USD 27.61 billion by 2025. Treatments and reproductive options for people and families affected by rare genetic conditions are expected to be available in the coming 4-5 years. Currently, we are in the teething phase and exploring responses to information available from genomic tests in clinical settings. The coming years may witness new problems which can further impact the prevention, management and treatment of diseases. A word of caution as personal genome-sequencing becomes popular, it is imperative to create a policy and a legal framework for non-discrimination of individuals based on the genetic information. The era of data has arrived and the focus will be on data analytics and mining.
With growth, newer policy changes are also required
Translating genomics to affordable diagnostics, data analysis, integration, interpretation, more value-add reporting, community screening, and disease modelling will act as a resource for clinicians as well as researchers for referring to facilities, which provide accessible and comprehensive public healthcare.
The next 5 years will be an era of discovery and by the middle of this decade, we should be able to link most of the phenotypic changes, which we see in medicine to specific mutations and changes. The so called “Variants of Unknown significance” or VUS will disappear in the next few years. The Moore’s Law has defined the pricing of the human genome and it has now reached 1000$. The future will see it further decreasing to a 100 USD as there is innovation around different sequencing technologies and in coming years genetic testing will be a strong driver of Indian diagnostic industry.