2017: A Breakthrough Year in Genomics

2017: A Breakthrough Year in Genomics

Evelyn Villareal was born with spinal muscular atrophy type 1 (SMA1), a genetic disease that gradually paralyzes babies. The diagnosis was heartbreaking for her parents, who lost their first daughter to the condition when she was just 15 months old. Most affected children rarely live past two.

But this time, the family found a clinical trial. At eight weeks, Evelyn received an experimental therapy, using a virus to carry a healthy gene across the blood-brain barrier and provide a crucial missing protein. The trial was a stunning success: all 15 babies responded, and Evelyn is now a busy three-year-old.

SMA1 isn’t an isolated story. Suddenly, after 20 years of intense work, we are seeing a string of gene therapy successes. Spark Therapeutics’ Luxturna is poised to become the first approved therapy for hereditary blindness. Another experimental treatment is being developed for junctional epidermolysis bullosa. Affected kids are often called “butterfly children,” because their skin is fragile like butterfly wings.

Gaining Against Cancer

Because cancer is a genetic disease, genomic sequencing can play a profound role in diagnosis and treatment. Foundation Medicine recently won landmark approval from the U.S. Food and Drug Administration (FDA) for FoundationOne CDx?, a comprehensive genetic test for solid tumors

Using next-generation sequencing, the test looks for variations in 324 genes linked to melanoma, breast, colorectal, ovarian and non-small cell lung cancer. Results will help oncologists match each patient with an approved targeted therapy, immunotherapy or clinical trial.

This story won’t be an isolated success. This year, the FDA streamlined its authorization pathway for tumor profiling tests. More are on the way.

The FDA also made history by approving the first gene therapy in the U.S.: Kyrmriah, by Novartis, for children with advanced leukemia. The agency followed quickly with Yescarta, from Gilead’s Kite Pharma, for a form of adult lymphoma. These therapies extract a person’s T cells and genetically engineer them to fight that patient’s specific cancer.

In another regulatory milestone, Merck’s immunotherapy Keytruda became the first cancer treatment approved for solid tumors with a specific genomic biomarker, regardless of where it is in the body. 

Gene Editing Advances

One of the most exciting discoveries in the past few years, CRISPR-Cas9 gene editing could ensure a stable food supply, make biofuels economically viable and cure many genetic diseases. In addition, a new CRISPR variation, Cas13, is allowing researchers to edit RNA, in addition to DNA, opening the door for many therapeutic possibilities.

In 2017, for the first time, a patient received a therapy intended to precisely edit the DNA of cells directly inside the body, using gene editing tools in a clinical trial to treat Hunter Syndrome, an inherited metabolic disorder that causes profound disability.

In addition, investigators used CRISPR to correct a genetic disorder in embryos. The team repaired mutations in the MYBPC3 gene, which can cause sudden cardiac death and other cardiovascular issues. We may now have the tools to eradicate Huntington’s Disease, cystic fibrosis and other inherited conditions. Still, germline editing has raised ethical questions. The research must continue, and so must the legal, regulatory and ethical discussions.

Improved Patient Access

Genomic sequencing has enabled a wide range of healthcare advances – but it means nothing if patients don’t have access. This year, precision medicine took significant steps towards payer acceptance.

In addition to receiving regulatory approval from the FDA, the FoundationOne CDx solid tumor test earned preliminary coverage from Medicare, which means older patients who are most susceptible to cancer will have greater access to this test.

Other payers are getting on board. In November, United Healthcare, the largest private insurer in the U.S., started covering whole exome sequencing for children with rare conditions.

More Population Genomics

Nations around the world continued to make progress on population genomics to better understand the link between genetics and disease. Denmark and India joined the United Kingdom, the U.S., China, France, Qatar, Saudi Arabia, Turkey and Estonia in pursuing population genomics programs. As of this month, Genomics England’s 100,000 Genomes Project – the world’s first and largest population genomics initiative – has sequenced more than 41,000 genomes from patients with cancer or rare inherited disease. The U.K.’s National Health Service is preparing to commission whole genome sequencing as a routine diagnostic test for certain rare diseases and cancers.

Meanwhile, France named the first two of what will ultimately be 12 sequencing sites embedded in the country’s university hospitals as part of the French Plan for Genomic Medicine 2025. The Plan aims to integrate genomic medicine within the French clinical care pathway, with the goal to sequence 235,000 genomes each year by 2020.

In the U.S., the National Institutes of Health’s All of Us Research Program began enrolling participants and the U.S. Department of Veterans Affairs awarded a contract to sequence the first 34,000 genomes for its Million Veteran Program. Eventually, the All of Us and MVP programs will gather health data, including genomic information, on more than a million Americans each.

Genomics Everywhere

The genomics ecosystem expanded in so many ways in 2017, including the direct-to-consumer market. Helix launched its online consumer marketplace for DNA-powered products. 23andMe surpassed two million customers. This year alone, AncestryDNA doubled to more than six million customers, creating the world’s largest DNA database.

This progress will only gain steam, and thoughtful regulation will play a major role. The FDA announced it is streamlining the review process for consumer testing companies.

There has also been an explosion in genomics-focused startups, including those at Illumina Accelerator. For example, Checkerspot is using advanced biotechnology and chemistry to design high-performance materials, while Mantra Bio is harnessing naturally occurring cellular structures called exosomes, to deliver targeted next generation therapeutics.

Clinical Genomics

Researchers and clinicians are constantly finding new ways to leverage genomics. Genomic sequencing technology is putting new possibilities in reach: larger studies, broader applications that look at whole genomes rather than exomes, and ultra-deep sequencing. This will enable “needle in the haystack” applications like deep tumor profiling or finding a single cancer molecule in a drop of blood.

Already, researchers at the Broad Institute of MIT and Harvard showed they can detect almost 90 percent of a tumor’s genetic features in patient blood, while Illumina spinoff Grail advanced its liquid biopsy program.

Illumina’s NovaSeq architecture is supporting these and other efforts, and the power of this technology is just beginning to come into play for patients.

The potential to transform care is staggering. Today, only a small minority of solid tumors get sequenced. Scientists have started to unravel how ApoE4 gene variations increase the risk of developing Alzheimer’s disease. Meanwhile, the Human Cell Atlas project is mapping all 37 trillion cells in our bodies. By describing and defining the cellular basis of health and disease, this bold undertaking will impact almost every aspect of biology and medicine.

Sequencing promises to radically change how cancer, rare and undiagnosed genetic diseases, and progressive diseases such as Alzheimer’s are treated. It’s already making a difference for kids like Evelyn, who will now have the chance to have long, healthy lives. At Illumina, we are honored to enable the advances that will benefit so many people around the world.


Deb Parkinson

Relationship Banker Bank of America - Retired

6 年

Remarkable advance in treatment.

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Shamnas cv

CEO @ Traxn Inc. | Building Internet Lifestyle Club

6 年

Great article. Thanks for writing!

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I am always at awe by all the genomic advances our company, Illumina, has championed.

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Great news

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Manohar R. Furtado

President, Biology for Global Good LLC

6 年

Great article that covers key advances enabled by genome sequencing applications . Many lives have been prolonged and saved due to NGS advancements since the human genome was sequenced in 2000. Waiting for the cost to drop below the $ 100 mark per genome to help drive the technology into resource constrained countries

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