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A brief history of the future of genomics

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At the time when Microsoft announced Windows in 1985, it would have been hard to believe how quickly personal computers would become ubiquitous. During that same period, biotechnology was experiencing a parallel wave. When the Human Genome Project started in 1990, sequencing the human genome for the first time was accomplished through an international effort over the course of 13 years. Four years later, a similar sequencing project was completed in just two months.

Today, researchers and practitioners are leveraging the decoded information within the human genome to deliver accurate diagnoses for elusive cases and address some of the most deadly and difficult to treat diseases.

The Challenge in Predicting the Future of Genomics
I remember the first time I was told, “No one will ever use a genomic test to diagnose cancer.” This confident prediction came from a prominent VC in 2014, just a few months after I had started DermTech, a genomics company in the field of dermatology.

Biotechnology is infamous for its low success rate, as even some of the best science succumbs to defeat after decades of research. Nevertheless, to me, such definitive skepticism was not only a reflection of the limited understanding of genomics at that time but also a limited imagination. The problem with predicting failure is being right.

When Potential Becomes Reality
Thankfully, we’ve seen this VC’s prediction proven wrong multiple times over as companies across the biotech industry have advanced to deliver diagnostics and detection assays across a number of different cancer types enabling predictive testing, early diagnosis and objective results.

Predictive Testing: A gene expression test that assesses a set of 21 genes from tumor biopsy samples delivers a “recurrence score” that can help predict if some early-stage breast cancers are likely to come back after initial treatment and better guide clinical decisions. This genomics test is helping approximately 70% of patients diagnosed with the most common form of breast cancer safely avoid chemotherapy. When these data were published, Kathy Albain, MD, a co-author of the study was quoted saying, “For countless women and their doctors, the days of uncertainty are over.”

Early Diagnosis: Colon cancer, the second most common cause of cancer deaths in the U.S., is now routinely detected through a convenient at-home DNA screening test, enabling patients greater access to quick and reliable test results.

Objective Results: Advances in precision dermatology can accurately detect melanoma — the fastest growing cancer worldwide and the most deadly and aggressive form of skin cancer – using a non-invasive RNA gene expression test. Early and objective results help guide clinical decisions and provide patients with their best opportunity for a cure. “Even the best dermatopathologist can’t account for molecular changes that are beyond the human eye and can benefit from having genetically objective data to guide their clinical decisions,” said Darrell Rigel, M.D., Department of Dermatology, New York University Medical Center.

Raising the Bar for the Future of Genomics
Now we know. Cancer hides in plain sight – in our genome – making genomics the most specific and sensitive way to identify cancer early and guide both patients and healthcare practitioners to the best course of treatment.

Yet even with these significant advances, our understanding of the human genome is incomplete and the ways in which we utilize this information is limited and imperfect. We have plenty of road ahead of us.

When I think back on the VC’s negative forecast, I wonder how much more we can collectively accomplish if spurred to prove the naysayers wrong.

What is the best approach to incorporate valuable genomic information into routine preventive care and annual checkups? How can we better leverage the benefits of genomics to expand patient access to high-quality care and diagnosis?

My prediction: The industry fully embraces the prospect of the genome as a powerful diagnostic tool and advances in genomics will continue to provide immeasurable value across the full healthcare spectrum. If we keep raising the bar, from prevention and detection to precision treatment and disease management, genomics is poised to fundamentally shift the ways in which we approach and deliver healthcare.

Photo: iLexx, Getty Images

 

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