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Bringing the Benefits of Genomics to More People, More Quickly

What would happen if genetic sequencing were standard care for undiagnosed diseases? And how can we ensure that the future of genomics benefits everyone, not just the one percent?

  • July 9th 2019

Francis deSouza is president and CEO of Illumina, which under his leadership is driving adoption of genomic sequencing to unlock the power of the genome and improve human health. With a background in technology as an entrepreneur, deSouza was previously president of products and services at Symantec Corporation, which he joined through the acquisition of IMlogic, where he was co-founder and CEO. Named one of Fortune’s 2018 Top Businesspersons of the Year, deSouza also serves on The Walt Disney Company board. He spoke in the 2019 Aspen Ideas: Health session The Secret to Life: Genomics, CRISPR, and the Future.

Nineteen years after the rough draft of the first human genome sequence was completed, we stand at the transition between an era where groundbreaking genomics discoveries promised a revolution in healthcare, and an era where we can harness the power of genomics to improve our health today. But we still face some big obstacles.

I’d like to share two stories that I recently discussed at Aspen Ideas: Health that highlight both the promise and the urgency of this transition.

This is Ellis. When she was 16 months old, she got an infection she just couldn’t shake and she kept getting weaker. At 19 months, her parents took her to a neurologist. He said her symptoms would probably just clear up on their own. But they didn’t. At 20 months, another neurologist misdiagnosed her with Guillain-Barre syndrome, leading to months of ineffective treatment. Then when Ellis was 25 months old, her mother saw a girl on "Good Morning America" with symptoms like Ellis. She had been diagnosed using genomic sequencing. Ellis’s mom went to her doctors and demanded testing.

Sequencing provided an answer: Ellis had Riboflavin Transporter Deficiency Type 2. The good news was that a treatment is available: high dose vitamin B2. But it’s not a cure and it couldn’t reverse the damage already done.

This is Ellis at 27 months. If she had been diagnosed at 19 months when she saw the first neurologist, instead of at 25 months, she might not have lost the ability to walk. Or her hearing. She might not have lost the use of her arms and hands. If Ellis had been diagnosed at 19 months, she might not have difficulty swallowing and need to be fed through a tube.

The right information at the right time can make all the difference.

Around the time Ellis was searching for a diagnosis, a 3-year-old girl arrived at the Pediatric Intensive Care Unit in San Francisco with sudden heart failure, kidney failure, and muscle problems. Her doctors suspected a mitochondrial disorder, which meant that there was nothing they could do. They told the family to prepare for the end.

But the medical team had one last idea: genomic testing. Medi-Cal doesn’t cover whole genome sequencing, so her doctor reached out to Illumina’s philanthropic sequencing program. The sequencing results revealed that the girl had kidney disease caused by a genetic mutation. She was only the seventh person in the world diagnosed with this disease. With the diagnosis known, the medical team was able to stabilize her. They sent her home two weeks later. With a kidney transplant she’ll be able to live a normal healthy life.

A miracle. But the miraculous part of this story wasn’t that sequencing was able to find a diagnosis — that happens in about 50 percent of cases when children with undiagnosed diseases do genomic testing. The miracle was that her doctor knew about genomic testing and had the connections to get her the testing she needed.

Access to care shouldn’t be a miracle.

Applying genomics in medical practice will change the diagnosis and treatment of almost all diseases — cancer, infections, cardiovascular disease, mental illness. Genomic testing can be life-changing, but it’s just not getting to the people who need it.

Approximately 350 million people have undiagnosed genetic diseases. Half are children like the little girls I described. Thirty percent of those kids won’t reach their 5th birthdays. Today in the US, children with undiagnosed genetic diseases go on a 5- to 7-year diagnostic odyssey on average, during which time they will be misdiagnosed 2-3 times, imposing a lot of pain and burden on the child, the family, and the healthcare system. Almost 10 percent of the families go bankrupt. Yet less than 1 percent of undiagnosed genetic disease patients receive genomic testing.

Cancer is the second leading cause of death globally and was responsible for over 9 million deaths in 2018. Genomics can improve cancer risk prediction, detection, diagnosis, therapy development and selection, and monitoring — helping bend the cancer mortality curve and finally allowing us to cure some cancers. Yet less than 10 percent of cancer patients have their tumors sequenced.

More than 95 percent of Americans have genetic variations that mean they wouldn’t benefit or would have an adverse reaction to common medications. Adverse drug reactions cause more than 100,000 deaths in the US and cost the healthcare system $30 billion each year. A third are caused by gene-drug interactions. Having your pharmacogenomic profile could prevent you from taking a blood thinner that won’t protect you against clots after a stent, anesthesia that could put you into sudden cardiac arrest, or a statin that causes you muscle toxicity. Yet few health systems do pharmacogenomic profiles of their patients.

Genomics has the potential to impact so many aspects of healthcare, but too few people are reaping the benefits. Bringing genomics to the patients who need it will require action across the healthcare landscape.

The genomics industry must innovate to make genomic analysis faster, cheaper, and simpler. In the last two decades sequencing a genome went from costing $3 billion over 15 years to less than $1000 in one day. And we’re working on getting to a $100 genome.

Healthcare providers must be equipped to take advantage of genomics. A recent Blue Cross Blue Shield Association study found that even where there’s coverage, genomic tests are often vastly underutilized. In the US around 250,000 children with undiagnosed disease are covered for genomic testing, yet only 1,000 were tested in the last year. Physician education is a major issue. Many physicians went to medical school before the first human genome was sequenced. We also need clinical decision support tools that help doctors know when to order genomic tests and how to use the information they get.

Payers must accelerate how they evaluate the impact genomics can have on patient outcomes.

Policy makers must ensure that individuals feel confident that accessing their genome will not harm them or their families. We need robust protections around privacy, consent, and anti-discrimination.

And philanthropists should incorporate genomics into their global health agendas. We need a Global Genomes Initiative — like the Global Alliance for Vaccines — to make sure genomics improves healthcare for everyone, not just the one percent.

Ellis is a fighter. Today, she can walk short distances, and a cochlear implant helps her hear. She starts kindergarten in the fall. But even with vitamin B2 she is at risk for devastating setbacks. Her family started the Cure RTD foundation to fund research into a cure.

Think of Ellis, and where she and so many other kids would be if sequencing were standard of care for children with undiagnosed diseases. Be curious about the impact genomics can have. Understand your genome and be ready to advocate for yourself and your family.

Genomics is not part of some far-off future. Genomics is here, today. Genomics is changing lives, today. And it’s up to all of us to make sure that everyone can benefit.

The views and opinions of the author are his own and do not necessarily reflect those of the Aspen Institute.

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