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May 12, 2016 at 07:41 AM
Our understanding of human biology is increasing at a stunning rate. Credit for this goes in part to researchers in the fast-expanding field of genomics: a branch of molecular biology that explores the structure, function, evolution and mapping of genes.
The discipline’s advances hold huge implications for human health and the mammoth healthcare industry. In the insurance space, the science is also raising profound questions, including this one: How will the field’s discoveries impact the relationships between insurers and policyholders?
AALU conference star
That question came up at a much-anticipated presentation by Dr. J. Craig Venter at the 2016 AALU annual meeting in Washington, D.C., held May 1-3. Best known for being among the first to map the human genome using “shotgun sequencing” of human DNA, Venter heads up a non-profit genomic research institute named after him. He’s also founder and CEO of Human Longevity Inc. (HLI), which is using large-scale computing and machine learning to build a comprehensive archive of genetic and clinical data.
It’s a jaw-dropping database. In 2014, HLI sequenced 14 petabytes (14 million gigabytes) of genomes — complete sets of genes and genetic material in a cell or organism. The company anticipates boosting the database to more than 1 million records of genetic information by 2020. That’s big data writ large.
Not so long ago, this achievement could only be imagined. The cost of the U.S. government-funded Human Genome Project, the 13-year scientific research effort conducted in parallel with Venter’s private initiative at Celera Genomics to map the human genome, totaled nearly $3 billion at the project’s completion in 2003. Today, a human genome — some 22,000 genes composed of 6.2 billion DNA bases — can be sequenced for just $1,500 in 15 minutes.
The precipitous decline in gene sequencing time and cost is enabling major medical gains, notably in respect to the diagnosis and treatment of diseases. Among the field’s discoveries, Venter said, are some 8,000 “genome variants” that account for rare, genetically-based conditions, from acute types of leukemia to unusual brain disorders.
Of particular interest to researchers is the biology of illnesses that account for the lion’s share of deaths: cancer and heart disease. Venter said that HLI is now sequencing tumors to understand their functioning and how best to treat them.
The latter may take the form of: (1) a vaccine tailored to an individual’s tumor; or (2) the development of immune system T cells programmed to recognize and attack cancer cells. Such customized treatments could transform the drug industry.
The promise of major medical advances resulting from collaboration among genomics and drug researchers is evident in the April 2016 announcement by HLI and biopharmaceutical titan AstraZenica: a 10-year deal to sequence and analyze 500,000 DNA samples from AstraZenica clinical trials. Genomic insights gained from the partnering will be added to the HLI Knowledgebase and subsequently shared with AstraZenica, which will have access to the database.
Genetics-based drug treatments could be a godsend to millions of people who suffer from life-threatening and chronic medical conditions. Better still is the use of genomics to identify risk factors associated with these conditions, and using this information to prevent the onset of disease. Venter pointed to advances in medical technologies and therapies that, combined with genetics testing, could be used to thwart the development of cancer, Alzheimer’s, heart disease or strokes.
