Next-Generation Sequencing (NGS) is discovering tomorrow’s cures. Illumina (Solexa) sequencing, Roche 452 sequencing, Ion torrent (Proton/PGM) sequencing, and SOLiD sequencing are revolutionizing the study of genomics and molecular biology. Next-generation sequencing is enabling precision medicine for an individual patient by linking potential biomarkers to access clinical outcomes. This is digital healthcare.
The breakthrough
The first DNA sequencing started in the early 1970’s, but this was slow and extremely costly which prevented scaling for the benefit of population health. By the 1990’s many new methods for DNA sequencing were developed and by 2000, these processes were implemented commercially by DNA sequencers (a scientific instrument used to automate the DNA sequencing process). Next-generation sequencing is high-throughput DNA sequencing, which sequences millions or billions of DNA strands in parallel, decreasing the need for the fragment-cloning methods used in Sanger genome sequencing – improving speed critical for patient usability.
Patient experience revolution
What does this all mean for a patient? The cost to sequence your DNA is decreasing. According to the National Human Genome Research Institute, the cost per genome in 2001 was $100M, by 2007 that was down to $10 million and in 2016 the costs is between $1,000 and $3,000. There are six primary methods for next-generation sequencing each with varying ability to read base pairs and different durations to perform the read (time per run):
1. Single-molecule real-time sequencing by Pacific Biosciences (500-100 megabases at 30 minutes to 4 hours),
2. Ion semiconductor by Ion Torrent Sequencing (up to 80 million at 2 hours),
3. Pyrosequencing by 454 (1 million at 24 hours),
4. Sequencing by synthesis by Illumina (up to 6 billion at 1 to 11 days),
5. Sequencing by ligation by SOLiD sequencing (1.2 to 1.4 billion at 1 to 2 weeks), and
6. Chain termination by Sanger sequencing (at 20 minutes to 2 hours).
Genome technology previously required multiple runs to assemble a genome. However, today assembly of an entire genome can be completed from a single run. Individual genome sequencing provides patients precision medicine by connecting biomarkers to clinical outcomes. Precision medicine is changing healthcare. This revolution impacts payers, providers, patients, government, and healthcare administrations.
By 2020, personalized healthcare will be a reality that will be as ubiquitous as owning a cell phone. Patients will no longer gamble in the game, waiting for symptoms to start manifesting, or hope for a diagnosis after enduring a lifetime of chronic illness. Precision medicine will extend the average life span by 10 percent, changing not only the length of lifespans but the quality of life.
Redesigning digital analytics
In this future world, digital will take on a new meaning. Patient experiences, interaction, expectations, and engagement will be personal. Next-generation sequencing must be run against an evolving database of viruses and illnesses. This requires designing systems that can easily integrate and interoperate for the benefit of population health. Once the patient has an entire genome processed using next-generation sequencing the accuracy needs to be verified with a library of NGS findings. Depending on incomplete libraries (databases of viruses) can result in rare targets being missed. Patient’s lives will depend on the accuracy and completeness of the data and the clinical analysis. How will validation of results be processed? Where will these national or global repositories reside? How will data quality be managed?
Library quantification, library generation and NGS result validations will delivery life changing benefits moving healthcare in the direction towards precision medicine.
Taking notice for a better tomorrow
Precision medicines helps to identify what factors will affect an individual’s health or susceptibility to disease. Huge advantages have already been experienced in the way diseases such as cancer (breast, lung, and colorectal cancers) are treated. Routine molecular testing is now part of patient care reducing adverse effects.
The 2015 State of the Union address first unveiled part of the President’s Precision Medicine Initiative (PMI), announced that precision medicine utilizes cutting edge technology matching patients with the treatments that will make them well.
“Doctors have always recognized that every patient is unique, and doctors have always tried to tailor their treatments as best they can to individuals. You can match a blood transfusion to a blood type — that was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard? What if figuring out the right dose of medicine was as simple as taking our temperature?” – President Obama
According to the Prevision Medicine While House initiative, “The future of precision medicine will enable health care providers to tailor treatment and prevention strategies to people’s unique characteristics, including their genome sequence, microbiome composition, health history, lifestyle, and diet.” This isn’t just a government thing. Precision medicine affects you. It affects me. The vision of the President’s Precision Medicine Initiative is individualized treatments for every American. Let’s dream big!
The Precision Medicine Initiative is exploring new cancer pre-clinical models and the initiative is establishing a national cancer knowledge center. Interoperability, knowledge systems, next-generation sequencing technologies, validation software, and privacy and security standards will each contribute to patient driven contributions model. This patient inspired model will redefine population health and the platforms that enable it.
If you have loved ones who have been touched by cancer, as I have, I can’t think of a worthier cause to support. Precision medicine is saving lives.