Genomics Push Precision Medicine to the Mainstream

The era of data-driven healthcare is upon us. The convergence of advanced medical knowledge, technology and data science is revolutionizing patient care leading to the next evolution in healthcare, precision medicine. 

Most existing medical treatments have been designed for the “average patient.” As a result of this “one-size-fits-all” model, treatments can be very successful for some patients but fail for others.

Precision medicine caters to the idea that every person is unique, shaped by their genes, environment, and lifestyle. Consequently, how they respond to infections and treatments may be vastly different from other patients. Next-generation gene sequencing provides new ways to collect data from each patient and connect it to data from large pools of other patients for analysis with AI. This provides healthcare providers with a deeper understanding of how to treat the individual and potentially tailor therapy to a specific person. 

A dream 18 years in the making

Precision medicine has its roots in the revolutionary Human Genome Project of 2003 when a global team of scientists announced they had successfully sequenced around 20,000 genes that make up the blueprint of our bodies. Today, fast, large-scale, low-cost DNA sequencing has propelled genomics into mainstream medicine, driving a radical shift towards precision medicine.

This revolution is made possible because of the vast amounts of data hospitals and healthcare authorities already have in their possession. Many countries have adopted electronic medical records (EMRs) and the growth of digital health as a source of continuous and rich personal data. This makes it easier to apply AI algorithms at scale. 

Another factor in the increased adoption of genomics is the dramatic reduction in costs for DNA sequencing. While the estimated cost for generating the initial human genome sequence was estimated at $300 million, today, the process costs below $1,000, opening the technology to many more healthcare providers and countries. 

Infectious diseases have plagued humanity from the very beginning, but the fast development of genomics allows us to manage contagious diseases more efficiently. Accurate analysis of microbial DNA enables early detection of new threats and outbreaks and insights into how and where infections are being passed on. We saw this during the COVID-19 pandemic, where rapid sequencing of SARS-COV-2 contributed to the early development of tests.

Personalized medicine is particularly valuable in managing and treating cancer. Every malignant tumor has unique biochemical and genetic traits. Therefore, it is almost impossible to develop effective ‘one-size-fits-all’ treatments for cancer. As such, researchers are trying to find personalized solutions by developing drugs that target specific types of tumor and develop particular tests that will enable them to assess – even before starting treatment – whether a drug has a good chance of success against a patient’s individual form of cancer.

One of the most significant barriers to greater data utilization has been concerns over data privacy. But modern advances in encryption, data anonymization and federated data models allow data analysis while allaying fears over data leakage. But this data needs to be standardized, broadly shared and secure to make it effective. Research by Accenture shows over 90% of oncologists say data should be shared across borders. “We need common approaches to data collection, data quality, and accreditation,” the report adds. 

The holy grail of healthcare 

Prevention is always better than cure. Physicians have known this since the very beginning, but this outcome has remained elusive for most diseases. Inventor Thomas Edison once remarked, “The doctor of the future will give no medicine but will interest his patient in the care of the human frame, in diet and the cause and prevention of disease.” Although still in the early days, gene sequencing offers the long-term possibility of providing new approaches to preventing and managing various problematic diseases.

There’s a need for more countries to embrace genomics, given its potential to revolutionize healthcare. Recent data reveals that the predominant genomes in public databases belong to Europeans (81%), while only 0.08% of the genome inventory represents ancestries from Arab and Middle Eastern populations. The genomes of people of Asian and African origins – at 14% and 3%, respectively – were also relatively low.

Healthcare is one of the most expensive line items on national budgets. The UK, for instance, allocates about 10% of the national budget on health. The World Health Organization realizes the potentials of genomics “to reduce global health inequalities by providing developing countries with efficient, cost-effective and robust means of preventing, diagnosing and treating major diseases that burden their populations.”

By understanding the genetic makeup of a population, health authorities can better predict, prevent and treat genetic and chronic diseases such as obesity, diabetes, hypertension, cancer and asthma and accelerate the development of therapies that address the specific health needs of the population.