Advances in DNA sequencing technology and the interpretation of the acquired data have fueled advances in genomics and its application in the delivery of personalized healthcare. Illumina recently announced a new milestone that will move the industry in ways that are yet to be realized, or even envisioned – a DNA sequencing super computer (HiSeqX) designed to process 20,000 genomes per year at a cost of $1,000 each. It is reported that the current cost to sequence a human genome is about $10,000. Illumina’s a high-speed, relatively low cost HiSeqX sequencer is expected to remove barriers to wide spread genomic data collection by lowering the cost and increasing the speed of sequencing, which in turn will allow even more sophisticated analysis and the application of that information to treat and prevent disease.

But in the near term, where are the opportunities in genomic medicine? Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI) speaking at the 2014 Silicon Valley Personalized Medicine World Conference (PMWC) “The Arrival of Actionable Personalized Medicine: The Age of Guided Disease Management” reported on the NHGRI’s “hot topics” list for 2014.

  1. Cancer remains the area where the immediate impact of genomic medicine can be realized. Dr. Green believes that the use of genomics in cancer care will become as common as the use of clinical chemistry. As a move toward realizing the wide spread adoption of genomics, the NHGRI has partnered with the National Cancer Institute to develop and apply cutting edge genome science to improve cancer prevention, care and detection.
  2. Pharmacogenomics to the goal of understanding what diseases or conditions patients are predisposed to during treatment. For example, using genetic testing to identify possible adverse events from the treatment itself.
  3. The use of genomic medicine in clinical care. Dr. Green noted that there are presently two different research programs testing the use of genomics in clinical care. The Clinical Sequencing Exploratory Research Program (CSER) looks at the use of genomic sequencing as part of patient care and Implementing Genomics in Practice reviews case examples to extract best practices.
  4. Noninvasive prenatal and newborn genetic testing is an area of tremendous opportunity and a current medical area where the United States lags other developed countries.  This program will explore, in a limited but deliberate manner, opportunities to use genomic information for broadening the understanding of diseases identified in the newborn period, including the legal and ethical concerns for such testing and appropriate use of this information.
  5. Clinical genomics information systems to better understand what genomics mean and translate it for the treating professional. Dr. Green explained that there is a need for more powerful systems to integrate genomic information from the lab, to the physician, to the electronic health record. He opined that this is a Herculean task.
  6. Application of genetic diagnostics to the treatment of ultra-rare genetic diseases. The NHGRI is sponsoring a program to sequence the genome of individuals who present with undiagnosed illness. The goal of this program is to facilitate research into the etiology of undiagnosed diseases and create a highly collaborative research community to identify best practices for the diagnosis and management of undiagnosed disease. The National Institute of Health is running a prototype program but more centers are to be announced in the near future.

The PMWC is reported to be dedicated to the global adoption of personalized medicine. Silicon Valley investors and entrepreneurs launched the conference in 2009.