56.7 F
San Diego
Friday, Apr 12, 2024

Spotlight on Genomics at Illumina Forum

LIFE SCIENCE: New Sequencer Series Debuts

The inaugural Illumina Genomics Forum held Sept. 28-Oct. 1 brought together leaders across science, medicine, healthcare, and policy – including former President Barack Obama – for networking and in-depth discussions on the future of genomic medicine. The event also brought new product announcements from Illumina, Inc., including the company’s newest sequencer.

Illumina CEO Francis deSouza set the tone for the forum with a presentation on where genomic medicine is currently and where he would like it to be in the future.

Francis deSouza
Illumina, Inc.

“The last few years were challenging but they showed the world the power of genomics,” he said.

De Souza pointed out that before the pandemic there were no mRNA vaccines and today there are over 2.8 billion people vaccinated around the world. To meet the pandemic’s global need, genomic sequencers were delivered at scale and now 205 countries use them for pathogen surveillance.

“Genomic testing and therapies are becoming foundational,” deSouza said, adding the FDA approved 97 biomarker-related drugs in 2021 alone and genomic-based therapies already are 15% of emerging drug pipeline.”

- Advertisement -

Genomics is also “transforming every step of cancer care,” deSouza said, and pointed out that the GRAIL Galleri early-detection cancer test has already been adopted by 34 health systems, large employers, insurance companies and 1,500 healthcare providers.

“There are still gaps we need to fill,” deSouza said. “Many people outside our community don’t even know that genomic testing is available.”

According to deSouza, only one in three of biomarker-eligible cancer patients receive any genomic testing at all. Of those that are tested only 58% are reimbursed, often on a case-by-case basis. “That should be 100%,” he added.

Access to genomic medicine is another challenge.

“Every month delayed in cancer treatment can raise a patient’s risk of death by 10%. Gene therapies and clinical trials aren’t generally accessible. Medical costs bankrupt families even when they’re insured,” deSouza said. We are here today to change that.”

Another area in genomic medicine that needs improving is data equity, deSouza said. Only 2% of genomic data is from people of African descent, compared to 87% from European ancestry.

Despite the roadblocks for genomics todays, deSouza struck an optimistic tone for its future and set a goal for the next decade to make a person’s personal genome the foundation of his or her health record and make genomic testing the frontline for disease detection and a guide to a patient’s best treatment.

Overcoming Roadblocks

A panel discussion moderated by Nobel Laureate Frances Arnold and featuring Press Ganey President and Chief Clinical Officer Amy Compton-Phillips, Veritas Intercontinental CEO Javier de Echevarria, GenomeCanada Chief Scientific Officer Catalina Lopez-Correra, Quest Diagnosics Chief Medical Officer Jay Wohlgemuth M.D. and Scripps Research Translational Institute Founder and Director Eric Topol focused on the clinical adoption of genomic medicine.

Eric Topol 
Scripps Research Translational Institute

Topol shared that the most exciting application of genomic medicine today is the Rady Genomics program at Rady Children’s Hospital that combines genomics with AI to test newborns for genetic diseases. He said it was set up to be “applicable and generalizable” and has already been adopted by “at least a dozen centers.”

“Hopefully it becomes the norm, but right now it only represents a tiny fraction of sick neonates who don’t have a diagnosis,” he said. “Someday I think this will be the standard of care, I hope it happens quickly.”

According to the panel, roadblocks to genomic medicine becoming the standard of care in the U.S. include a fragmented healthcare system designed around providers rather than patients, a lack of healthcare professional trained in genomics, and resistance by patients and institutions to share genomic data.

Topol pointed out that data sharing needs to be free of any punitive aspect and pointed out that when researchers in South Africa discovered the Omicron variant of COVID, the result was to ban travel.

Javier de Echevarria
Veritas Intercontinental

De Echevarria added that patients are also wary of their genomic data and what it might tell them, or what it might mean for them if that data is somehow shared with employers or used by insurance companies. To get the public to agree to sharing genomic data with doctors and researchers will take education.

“The education is not only about what to do with the information you get from your genome, it’s also about the commitment you have with the community, with the scientific world, with your fellow citizens about sharing your data to improve research and to learn more and more all the time,” he said.

Amy Compton-Phillips 
President, Chief Clinical Officer 
Press Ganey

Compton-Phillips said the public also needs to see value in their data being shared and if trust is built, people will voluntarily share their data.

“People voluntarily send swabs to 23andMe and they pay for the privilege of getting that information back so they can see where their origins were. People are sending off their DNA to a private company and they trust the private company to do the right thing with that, but they see a value in what they get out of it,” she said. “So the theory is if healthcare can demonstrate value, show trustworthiness and always ask for permission, people will share data.”

Discussion on Hope and Change in Healthcare

A highlight of the Illumina Genomics Forum was a discussion with former President Obama led by Sonia Vallabh, a researcher at the Broad Institute who is researching a cure for prion disease after a genetic test revealed she carries the biomarker for the disease that caused the death of her mother.

Barack Obama
Former President 

The discussion delved into the challenges of changing healthcare in the U.S. and the lessons learning in passing the Affordable Care Act (ACA) as well as other healthcare-related initiatives during the Obama presidency.

Obama said he cared about changing the “deeply inefficient” healthcare system after his own mother died of an aggressive form of ovarian cancer.

“Had we had a better preventative system in place, it’s possible that she could have had better treatment and the survival rate would have been higher,” he said.

The ACA, he said, was a way to provide more access and lower the rate of uninsured in the U.S. but was also a way to add efficiency to the healthcare system to lower costs, make it more effective and produce better outcomes.

“One of the most promising avenues for making the system work better was the amazing breakthroughs there were taking place with the human genome,” Obama said, adding that the breakthroughs were the impetus for the Precision Medicine Initiative in 2016.

Obama praised the industry in its research and a continued decline in cost of genomics which will lead to more equitable access, but also stated a concern for the lack of data sharing and the financial incentive structure that encourages it.

“It has less to do with the particulars of precision medicine and has more to do with the fact that we still have a big, creaky system that accounts for a sixth of the U.S. economy,” he said. “For a variety of reasons, that system has evolved so that it is much more of a disease-care system than a health care system and until we reverse the mindset and the incentive structure inside that system, I suspect we’re still going to have some problems even when we get some of the amazing breakthroughs discussed over the course of this conference.”

New Sequencer Series

One of the breakthroughs discussed at the forum was the launch of Illumina’s NovaSeq X Series of sequencers, the company’s new production-scale sequencers.

“Innovations like NovaSeq X are at the heart of how we will transform patient lives, and this groundbreaking technology will empower researchers, scientists, and clinicians in the fight to diagnose, treat – and eventually cure – disease while making genomics more sustainable and accessible to millions more people around the world,” deSouza said.

The NovaSeq X Series sequencers were redesigned to increase speed, scale, accuracy and sustainability.


CEO: Francis deSouza
REVENUE: $4.5 billion (2021)
WEBSITE:  illumina.com
NOTABLE: Illumina is the world’s leading genomic sequencing company.


Featured Articles



Related Articles