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Less than two decades into the genomic era in health care, our knowledge about the connections between DNA and human health continues to explode, from the genetic underpinnings of disease to how to use genetics to identify what therapy is best suited to each person. Ultimately genomics will transform the way we understand our health and make most health decisions, from pregnancy to newborn health to childhood disorders, cancer treatment and more.

One of the most dramatic changes is in the world of so-called rare disease. In total, rare diseases are anything but rare. There are thousands of conditions that may individually impact relatively small groups of people but together impact more than 30 million people in the U.S. alone.1

Advances in genetic medicine have made a major contribution to improving diagnosis for these patients

While too many patients still endure a years-long “diagnostic odyssey,” the increasing availability of genetic testing offers hope. Genetic testing has the ability to diagnose thousands of rare conditions, accurately and quickly, and that capability is only growing, with hundreds of new gene-disease relationships identified each year.

Recently the industry has seen gene therapies and other targeted treatments enter the market, offering therapeutic options to patients who previously had none

Today, treatments for rare diseases account for $24 billion or roughly 20 percent of all prescription drug spending and is growing at 12 percent a year.2 But the role of genetics in rare disease treatment does not end at diagnosis, even one that provides a gateway to treatment. Each diagnostic test not only gives an answer to a patient, but also contributes to a treasure trove of data that improves diagnosis for the next patient and can transform how we understand and treat these conditions.

GeneDx – a diagnostic company founded in 2000 by two scientists from the National Institutes of Health (NIH) – has already seen this play out. To date the company has completed more than 300,000 clinical exome sequences, more than anyone else in the industry. Exome sequencing covers all 20,000 genes responsible for proteins in the body and provides the broadest look at the potential genetic causes of health conditions. Only sequencing a person’s entire genome is broader. That experience, coupled with a dataset that includes 2.1 million health descriptions (phenotypes), has allowed the company to accelerate discovery in ways that are impossible without the benefit of large datasets. For example, by plotting symptoms and age at testing across a large cohort, researchers can see the course of disease changing over time, with patients under age two showing very different symptoms than patients at age six. For physicians who see these types of cases infrequently, the conditions may look different when in fact they’re the same. Again and again, a symptomatic, hypothesis-based approach may miss what’s really going on.

Where medicine is heading, then, will begin not with the hypothesis but with the data

Through large datasets of both genomic and clinical information, we will be able to start by asking, “What do the genes say?” Then, “What do the symptoms likely mean?” And finally, “What treatment will help?” It upends diagnosis and treatment in ways that can dramatically improve care. For patients with rare diseases, many of which worsen over time, the sooner a diagnosis and an effective treatment is found, the better the outcome.

Likewise, drug development can be transformed. Large datasets of both genomic and clinical data can drastically speed every phase of the drug development cycle, from identifying novel targets to designing clinical trials to developing the kinds of complementary diagnostics needed to ensure the right patient receives the right therapy at the right time.

The most impactful datasets will be those that are large, deep and structured, combining both genetic and health information

Health systems, payers, diagnostic companies and biopharma companies all have a role to play in creating a framework that will generate the greatest benefit for patients. Improving access to testing, ensuring reimbursement, creating useable datasets, contributing to public data trusts and fostering cross-industry partnerships will all be part of building a new ecosystem to deliver genome-informed health care.

Millions of patients enduring rare diseases have for years had too few options. Given the potential to transform health care for the better, now’s the time to double-down on the transition to a data-driven approach to diagnosis and drug development.

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1 National Institutes of Health, Genetic and Rare Disease Information Center, FAQs about Rare Disease.
2 EvaluatePharma Orphan Drug Report 2019, 6th Edition