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How Rare Disease Patients Benefit From Personalized Medicine

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genome-sequencing-personalized medicine-rare disease

Breakthroughs in personalized medicine promise to help some rare disease patients get on the right treatments, sooner.

Daryl Pritchard, Ph.D.

Senior Vice President for Science Policy, Personalized Medicine Coalition

Daryl Pritchard, Ph.D., is the Senior Vice President for Science Policy at the Personalized Medicine Coalition, a nonprofit education and advocacy organization based in Washington, D.C.

Although scientists have long understood that most rare diseases are caused by harmful genetic mutations, it often takes years for doctors to identify which gene is causing a patient’s specific disease. The time to get an accurate diagnosis takes a toll on patients and their families, who watch loved ones suffer while they go through a diagnostic odyssey often including dozens of costly tests and visits to various doctors and specialists. Depending on the disease, even after a successful diagnosis, existing daily maintenance medications can prove woefully inadequate.

Fortunately, new types of diagnostic tests emerging in the era of personalized medicine are helping patients get a definitive diagnosis faster. For some patients, newer therapies may also work better.

Genomic sequencing

New genomic sequencing technologies can test for thousands of genetic mutations at the same time. Scientists hope advanced genomic sequencing tests may someday replace the battery of single-gene tests that doctors often use to understand the potential causes of a patient’s symptoms.

Genomic sequencing tests may help shorten the diagnostic odysseys that many rare disease patients must endure before receiving an accurate diagnosis, thereby reducing associated expenses and potentially getting patients on more effective treatments sooner.

Personalized treatments

Meanwhile, to improve the prospects for patients with rare diseases after they are diagnosed, the biopharmaceutical industry is developing an emerging group of personalized medicines known as gene therapies.

Gene therapies promise to deliver lasting benefits by reversing the genetic causes of diseases. There are 13 U.S. Food and Drug Administration-approved gene therapies for rare genetic diseases on the U.S. market today. Regulators expect to approve many more in the years ahead. Researchers studying the benefits of genome sequencing tests, gene therapies, and other personalized treatments hope their work will help advance a new era in healthcare that quickly targets more effective treatments to rare disease patients who will benefit from them.

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