Genomic Medicine Fellowship – Healthwatch 16


Rare diseases can be frustrating for patients and doctors. Geisinger researchers have received a grant to develop a tool that will solve this problem.

DANVILLE, PA – No one likes going to the doctor, and if your condition isn’t common, you may be spending more time than you would like at your doctor’s office.

“We tend to prioritize things that are more frequently encountered and that correspond to the current patient. But in this group, there are 1, 2, 3 percent of individuals with a rare disease, and a lot of ‘between them are genetic, “said Marc Williams. , director emeritus of the Geisinger Institute of Genomic Medicine.

Rare diseases can be frustrating for patients and doctors alike, as they can take a long time to diagnose. Recently, a team of Geisinger researchers received a $ 5 million grant from the National Institute for Human Genome Research at the National Institute of Health. The grant aims to develop a tool that will allow healthcare providers to diagnose a genetic basis for various medical conditions in real time.

“Basically what we do is a genetic test, but we do it in a computer, and we do it without a doctor necessarily thinking, ‘I have to order a genetic test.'”

The project takes advantage of electronic health records, genomic sequences and how to combine them to shorten the diagnostic time for people with rare diseases.

Doctors would recommend further testing and treatment based on what these results generate.

“By doing these three things, at least our assumption is that we could shorten this diagnostic odyssey and initiate more appropriate and condition-specific care much faster.”

The five-year project started in August.

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