The Importance of Whole Genome Sequencing for Medical Discovery

By J. Craig Venter

When I sequenced the first complete human genome—my own—in 2007, I learned I carried one of the genes associated with an increased risk for Alzheimer’s disease. Like many, I began to worry that the memory changes associated with normal aging were a sign that I was seeing the early stages of the disease. Due to these concerns, I had brain MRI scans and PET MRI to look for amyloid in my brain. It was a great relief to learn that my MRI showed no sign of Alzheimer’s disease and the PET MRI was completely negative. This experience taught me that genetic data are a risk factor, not a diagnostic, and that we need clinical testing in conjunction with genomic sequencing as the starting point of preventive medicine.

Seeking Knowledge of the Human Genome

I started Human Longevity, Inc. (HLI) two years ago to understand the human genome by sequencing tens of thousands of genomes and combining the sequence data with clinical data and phenotype data. Our goal is to revolutionize the practice of medicine, changing it from a reactive state to a proactive-preventive state. This is not an easy task because most physicians are not adequately trained in genomic science. We hope to change this and are working with academic teaching institutions to try to more often infuse genomics into medical school training.

We’ve started on this path by creating the world’s largest and most comprehensive database of whole genome, phenotype and clinical data. We are developing and applying large-scale computing and machine learning to make novel discoveries and change the way we diagnose and treat disease. The company name, Human Longevity, might imply that we only care about prolonging life, however we are focused on extending the healthy human life span by using a whole genome and a whole body view of health and disease. If you are between ages 50 and 74 and a male, you have a 30 percent chance of dying before you reach age 74. If you are a female the chance is 20 percent. Two-thirds of the risk is from cancer and heart disease. If we can detect and prevent or treat early-stage disease, or find and remove early-stage cancer, we will increase your health life span.

Our combined dataset is called the HLI Knowledgebase, which we hope is a tool that can lead to new discoveries in genomic-based medicine. At HLI we are building toward 1 million integrated health records by 2020. Our Knowledgebase will enable pharmaceutical companies, insurers and healthcare providers to impact and improve health—helping to develop therapeutic solutions to some of the most complex yet actionable diseases, including diabetes and obesity, heart and liver diseases and dementia. And just recently, we announced an oncology program dedicated to addressing cancer in new ways using genomic information.

Testing to Head Off Disease and Other Dangers

We are also infusing genomics into the foundation of the practice of medicine in our new platform called the Health Nucleus, a state-of-the-art, freestanding health center where clients receive a complete biological and health assessment of themselves through genome, microbiome, metabolome sequencing, along with comprehensive MRI body scans and other more traditional clinical testing. This unique health assessment costs $25,000, and while most is not covered by insurance, we believe that creating the opportunity for individuals to learn more about themselves and their health than ever before is a distinct advantage. And there is an eventual cost-savings–life savings, as we either prevent onset of disease or catch serious illness before it progresses.

We are discovering life-altering diseases in 30 percent to 40 percent of apparently healthy individuals going through the Health Nucleus. These discoveries range from early-stage tumors including brain tumors, to aneurisms, polycystic liver and kidney disease. Early-stage tumors are completely curable before they invade tissues and spread to other areas. Aneurysms are all treatable, but can cause sudden death if they are not identified. These are just a few examples of health issues we are finding, which provide evidence that more monitoring and data about you are better than less.

Enter the Questions of Ethics

With such detailed personal information also come ethical-societal questions of privacy and security. After all, we now know that a whole genome cannot be de-identified, meaning that agenome relates back to a person the way a fingerprint does, only it carries much more information. Even if you remove the name of the genome contributor, technology is now being developed to generate a photo from that genome, so we must take extra precautions to store this information carefully.

All personal health information that comes to HLI is de-identified. We have a team of 10 in our security department who are experts in privacy and information security. They employ the latest in encryption and information security technology.

We are also meeting with Congres-sional leaders to think through HIPAA and other essential health regulations to ensure the data we collect are secure and can be used to change lives for the better.

We don’t have every answer for everything we might find, but if we don’t try, we won’t ever get to the answers that could save lives. And the more who participate, the more we can learn, to benefit individuals and our society at large.

J. Craig Venter, Ph.D., is regarded as one of the leading scientists of the 21st century for his numerous contributions to genomic research. In 2013, he co-founded and is CEO of Human Longevity, Inc., the genomics-based, technology-driven company. Venter is also the founder, chairman and chief executive of the J. Craig Venter Institute and co-founder, chairman and co-scientific officer of Synthetic Genomics Inc.

Editor’s Note: This article appears in the May/June 2016 issue of Aging Today, ASA’s bi-monthly newspaper covering issues in aging research, practice and policy. ASA members receive Aging Today as a member benefit; non-members may purchase subscriptions at our online store or Join ASA.