Minding The Gaps In Genomics In Cancer Care

Cancer is a complex and often deadly disease arising from gene alterations. It is one of the prime causes of morbidity and death worldwide. India faces this global health crisis, with a lifetime cancer risk for one in nine people in the country. 

According to the National Cancer Registry Programme, the estimated number of cancer cases in India for 2022 was 14,61,427. While traditional diagnostic methods and treatments such as surgery, chemotherapy, and radiation therapy have been the mainstay of cancer care, advances in genomics and molecular biology are opening up new avenues for personalized and targeted therapies. 

Genomics can help identify the changes in our genes and provide insights into the molecular mechanisms, pathways, and targets involved in cancer development and progression. It can also aid in classifying tumors based on their molecular profiles, leading to selecting the most effective and appropriate therapies for each patient. Moreover, genomics can help monitor the response to a treatment regime and detect signs of resistance or recurrence of disease.

However, despite the great promise of genomics for cancer care, some significant gaps and challenges must be addressed to overcome the gaps in genomics data, especially in India. India covers about 20 per cent of the world's population; however, its representation in such genomic studies is significantly missing. Approximately 86 per cent of existing genomic studies are based on data from Caucasians, while Indian representation in such data is only around 0.2 per cent. 

This poses a substantial challenge to developing personalized cancer care in India and thus restricts the accuracy and applicability of molecular profiling technologies. Some genetic variants associated with cancer risk or response to treatment may be unique or more prevalent in Indian populations than in other populations. If these variants are not captured by genomic tests based on Caucasian data, they may lead to missed or inaccurate diagnoses or suboptimal treatments.

Initiatives such as the pilot phase of the IndiGen Programme, led by the Council of Scientific and Industrial Research (CSIR), have shown that 32 per cent of genetic variants found in Indian sequences are unique. However, concerted efforts are needed to generate and analyze genomic data from Indian populations, especially those affected by cancer. 

There is also a need to investigate why some Indians react severely to specific treatment regimes. The lack of a molecular database characterizing Indian cancers makes it almost impossible to address this concern.

To fill the gaps in genomics data for cancer care in India, some possible steps are:

· Collaborate with global and local partners, including hospitals, academia, industry, to generate and share genomic data from Indian cancer patients in a secure environment.

· Invest in technology and infrastructure to enable high-quality and affordable genomic testing and analysis for patients.

· Educate society and healthcare professionals about the benefits of genomics for cancer care. Awareness campaigns, for example, can be conducted to inform the public about the risk factors, prevention strategies, and screening methods for various cancers. Similarly, training programs should be planned to train doctors and oncologists with the skills to use genomic data for diagnosis, prognosis, and treatment of cancer patients.

These steps require concerted efforts from various stakeholders, such as the government, private sector, research institutions, healthcare providers, and civil society. By working together, India can leverage the potential of genomics to improve cancer care outcomes and the quality of life for its people.

By filling the gaps in genomics data, India can unlock several potential benefits that would significantly improve healthcare, especially cancer care. Comprehensive genomics data on the Indian population can lead to improved diagnosis, prognosis, prevention, and treatment of the disease through personalized medicine, allowing tailored treatments based on an individual's genetic makeup. 

Further, a better understanding of genetic disorders prevalent in the Indian population can be achieved, leading to improved diagnosis, prevention, and treatment strategies. Lastly, focusing on genomics in cancer care can help identify unique genetic characteristics among Indian patients, paving the way for targeted therapies and precision medicine.

In conclusion, the importance of genomics in healthcare, particularly in cancer care, cannot be emphasized enough. However, significant gaps in data limit its potential impact. There is an urgent need to generate more genomic data from the Indian populace, particularly those suffering from a formidable disease like cancer. 

This will help improve personalized medicine and provide a more accurate and effective diagnosis as well as treatment for patients. It will also aid in understanding the genetic diversity and complexity of cancers and how they interact with environmental factors. Filling the gaps in genomics data will not only benefit patients suffering with cancer, but also other diseases. Therefore, it is imperative to continue and expand the efforts to mind the gaps in genomics data in India.

Genomics is the study of a person's DNA (including all of its genes). Almost every cell in the human body contains a complete copy of the genome. The genome has all the information needed for a person to grow and propagate. Studying the genome holds immense potential in improving healthcare by revealing how genes and their products interact with each other and the surroundings and how certain diseases, such as cancer, develop. In other words, genomics can help predict, diagnose, and treat diseases more precisely and personally.

Professor Ravi Mehrotra

Guest Author Member of the Board of Directors, ICGA Foundation, India