Targeted Genetic Sequencing: Changing the Way We Think About Chronic Disease

By Ron King

The diseases, illnesses, and other health problems that afflict Americans number in the thousands. But a mere handful of chronic diseases are responsible for a huge portion of annual U.S. healthcare spending, which reached $3.8 trillion in 2019.

There’s a good reason why. Data from the Centers for Disease Control and Prevention shows that six in 10 adults in the U.S. have a chronic health condition such as heart disease, lung disease, cancer, diabetes, or Alzheimer’s, while four in 10 have two or more chronic diseases. And Americans with five or more chronic conditions, who make up 12% of the population, account for an astounding 41% of total healthcare spending. That’s nearly $1.6 billion each year.

Beyond the cost to our healthcare system (not to mention hundreds of billions of dollars in lost income and productivity), chronic diseases exact a brutal toll on patients and family members in the form of lower-quality and shortened lives. It stands to reason that if we can proactively manage chronic diseases, we can drastically reduce their burden on individuals, families, and the healthcare system.

Over the past few years, precision medicine and genomics have emerged from research labs to clinical use in managing chronic diseases by enabling more individually targeted treatments. By collecting and analyzing information about an individual’s genes, medical professionals can more effectively prevent, diagnose, and treat cancer and other chronic diseases.

What exactly is precision medicine? Here’s how the FDA defines it:

“Most medical treatments are designed for the ‘average patient’ as a one-size-fits-all approach, which may be successful for some patients but not for others. Precision medicine, sometimes known as ‘personalized medicine,’ is an innovative approach to tailoring disease prevention and treatment that takes into account differences in people’s genes, environments, and lifestyles. The goal of precision medicine is to target the right treatments to the right patients at the right time.”

Insights at the genetic level

A person’s genetic information can help clinicians develop individualized care plans, assess whether (and to what extent) treatment is working, and make accurate prognoses. For example, some cancer patients undergo molecular testing to uncover information on the genetic profile of their tumors, allowing clinicians to devise genetically individualized treatment plans. Though precision medicine initiatives initially focused on cancer, efforts have expanded to include Alzheimer’s, diabetes, and cardiovascular disease.

Targeted genetic sequencing and comprehensive genetic data collection are powerful tools for precision medicine. Labs that have the capabilities to create targeted next-generation sequencing (NGS) panels empower clinicians to identify changes in chromosomes, genes, or proteins. These NGS panels contain the genetic information necessary to understand and manage chronic diseases on an individual level. They also have the advantage of being fast and cost-effective to create.

The implications of precision medicine and targeted genetic sequencing for healthcare are revolutionary. Chronic diseases cost more to treat over time as they progress and become more debilitating. Early treatment of chronic diseases can avert future escalating healthcare costs while improving lives.

Now imagine being able to manage chronic diseases not only on an individual basis, but across generations. NGS and precision medicine are making such advances in healthcare a reality.

Armed with information about their genes, patients will be able to knowledgeably participate in their care decisions rather than having to make major treatment decisions based on incomplete or inaccurate data. And while the underlying premise of precision medicine is to focus on the genetics of an individual patient, the data generated by NGS is also driving medical and disease research for population health.

The importance of collaboration

Fully leveraging NGS requires a collaborative effort between healthcare stakeholders. Hospitals, physician practices, medical device companies, and pharmaceuticals must partner with labs to further develop and deploy targeted genetic sequencing as a weapon against chronic diseases.

Hospitals and physician practices can use NGS to improve treatment plans for individual patients. Pharmas can work with specialized labs to bring new pharmacogenetic products to market. Medical device manufacturers can partner with labs that offer unique genetic testing to support the development of new devices. These are just some of the partnership possibilities.

By collaborating, commercial, clinical, and research entities can ensure better individual outcomes and lower overall healthcare costs while creating a framework to support continual advances in precision medicine.

Conclusion

Chronic diseases have been around as long as humans. Never before, however, have we possessed the knowledge and genetic tools to analyze, treat, and prevent conditions such as heart disease and Alzheimer’s on an individualized basis.

Precision medicine and NGS are the keys to understanding and combating the chronic diseases that cost our healthcare system trillions of dollars—a price which we all ultimately pay—and cause millions of people untold suffering every year. Once these tools are widely implemented, our ability to treat chronic diseases proactively and even generationally will improve healthcare in unprecedented ways. Further, the data collected, stored, and shared by targeted genetic sequencing labs will fuel ongoing medical research.

Through a combination of innovation and collaboration among healthcare stakeholders, precision medicine is driving transformative change in how we fight chronic diseases.

Ron King is the CEO and managing board member of Tesis Labs.