Testimonials from World Experts

With guidelines advocating use as a first–tier test, and increasing evidence of economic and clinical value, whole-genome sequencing appears to be on the path toward standard of care. Physicians across the spectrum of healthcare are finding positive outcomes and meaningful benefits when using WGS to support their patients with comprehensive insights.

“In situations where there is not the luxury of waiting, I see it as a moral imperative and an obligation for us to do everything possible in these cases to get to an answer as quickly as possible.”

Luca Brunelli, MD, PhD
University of Utah Health

“Now, finally, we are at the point thanks to whole genome sequencing, where we can start looking again back in the dark, try to get as many—as much data as we can in the noncoding sequences, and try to make sense out of it.”

Kamran Shazand, PhD
Genomics Institute at Shriners Children’s

“We really need to be able to reach patients earlier in the diagnostic process to shorten that diagnostic odyssey, or in an ideal world, eliminate that diagnostic odyssey. And also reach patients who have historically been underserved, making sure that all patients can benefit from technologies as they continue to improve and our continued ability to interpret that information.”

Kimberly Leblanc, MS, CGC
Genetic Counselor

“So in last ten years or so, the newer technologies like, genome sequencing and exome sequencing are making our job lot more easier and also important for the families. So these, these technologies were not available ten years back and now we have them, and we can really look at the entire exome or genome and look for cause for the disease. And that has made a huge difference and now we can do it in a rapid way, so we can have a diagnosis within a week or two. This has also helped down—cutting down the number of tests we do, and it also saves cost. So there are lot of advantages of these approaches.”

Pankaj B. Agrawal, MD, MMSC
Chief of The Division of Neonatology
University of Miami Miller School of Medicine Department of Pediatrics and Jackson Health System

“And so we knew that, using next generation sequencing in this population was very powerful. And so when you do a panel, you always want to do more, have more answers, are there things we’re missing? And so transitioning to whole genome sequencing allows us to feel like no rock is going unturned. We’re looking at everything. We’re looking at intronic changes and exonic changes, so that we’re making sure that we’re uncovering all the information possible that there is to uncover.”

Sabrina Malone Jenkins, MD
University of Utah Health

“Although it looks slightly more expensive than traditional testing, it has its value. It’s quick, and there’s no unnecessary diagnostic workup or inefficient treatment.”

Ahmad Tayoun, PhD, FACMG
Director of the genomics center
Al Jalila Children’s Specialty Hospital,UAE – Dubai

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Witness the Impact of WGS to Patients

We share the personal stories of rare disease patients and how their individual diagnostic odysseys came to end with whole genome sequencing.

Disclaimer: The opinions and views of the individuals presented above belong solely to the individual represented, and not necessarily to the individual’s employer, organization, committee or other groups or individuals. They are not Illumina employees and may have received compensation from Illumina to share their opinions and views.