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Why Gene Sequencing Should Matter to You

Completed over a decade ago, the $3 billion Human Genome Project gave the world a complete map of the entire genetic makeup of a human being. The Project started researchers on the path to genomic medicine—which reaches beyond the study of single genes to understanding how a person’s thousands of genes interact with each other and the genetic environment. Knowledge of a person’s genomic profile can help doctors make decisions about the prevention, diagnosis, and treatment of disease. With the cost of sequencing becoming affordable, individualized medicine may soon become routine. We asked Aris Baras, an international expert on the subject and a keynote speaker at Health Tech ’15, to tell us more about what genomic sequencing could mean for the future of healthcare. 

WCA: Genomic medicine—also known as personalized medicine—has a lot of people excited. Why?

Baras: The idea of personalized medicine is nothing new; we have always sought to better understand disease, develop better therapeutics, and get the right therapies to the right patients. But now, it’s really a groundbreaking time in human genetics and medicine. The technological advances in genomics combined with plummeting costs of sequencing have have made it possible to study the genetic and molecular underpinnings of health and disease at a much deeper level, and to leverage this new learning to improve medicine and drug development. The early wave of genomic medicine produced many successes, including the development of successful treatments for rare diseases, the arrival of targeted cancer therapies, advancement of molecular and companion diagnostics, and much more. The promise for the next wave of genomic and personalized medicine is enormous.

So, there is great excitement in the field and all sorts of different approaches underway, including ours at the RGC, the foundation of which is a large-scale population approach that integrates a person’s DNA sequence data with his or her de-identified Electronic Health Record, collected by our collaborators at the Geisinger Health System.  This unique resource allows us to identify the genetic determinants underlying risk, progression, and protection from disease.

WCA: Fascinating! What are the goals of your work at the Regeneron Genetics Center?

Baras: Our goals are to identify genetically-validated drug targets and to inform the development of our therapeutic programs through human genetics evidence. In partnership with Geisinger, we aim to have 100,000 participants sequenced by the end of the year. Our combined efforts have already yielded exciting findings, creating potential opportunities for new treatments for many, many diseases—a truly thrilling possibility.

To date, our studies have led to over 20 novel gene discoveries and other important findings that will help guide the development of our pipeline and translate genetic discoveries into meaningful therapeutic advances. And that’s really the overall goal—to help patients by making better treatments available, faster.

WCA: So does that mean my annual physical will include taking a DNA sample?

Baras: Not yet. Genetic testing is becoming more common, although currently limited to a few settings. With decreasing costs of sequencing, and rapid growth and competition in the field, it is likely that genetic testing will become more common in the future and even routine. It’s not on the immediate horizon because we still have a lot to learn about interpreting genetic information, and have much to do in terms of educating patients and providers about genomics. Plus, there’s a lot to work out regarding patient privacy and other legal, ethical, and social issues. Privacy and patient rights are very important to us, and we respect and appreciate the participation of all the people who are making this important research possible.

WCA: Thank you for your time! We look forward to hearing more from you at Health Tech ’15! 

Register for Health Tech ’15.