What is available now? Who are the stakeholders?
Personal, inexpensive, and widely available genomic sequencing technology is not here yet, but many researchers believe that it is just around the corner. Currently, there are a handful of companies that offer a type of genetic analysis that maps common DNA variations throughout the genome, rather than sequencing the billions of nucleotides that comprise your entire genome. This is called a single nucleotide polymorphism (SNP) analysis and is available directly to consumers by companies such as 23andme and Navigenics. Knome recently announced that they are offering whole genome sequencing analysis for $25,000 dollars, down from the 2008 pricetag of $350,000. Complete Genomics plans to offer whole-genome sequencing in 2010 for somewhere in the $1500 range.
Presently, multiple academic and corporate teams are working towards a technological goal of being able to sequence the entire genome of a human in a few days for under $1,000 (US). Referred to as the “1K genome”, many researchers estimate that this goal will be achieved within the next 5-10 years, if not much sooner. In an effort to stimulate development of inexpensive DNA sequencing technology, the Archon X Prize for Genomics has offered a 10 million dollar prize to the first team (or teams) to sequence 100 human genomes in 10 days.
The Personal Genome Project (PGP) is a research study that seeks to provide limited sequence information (looking at only the protein-coding regions of the genome) to volunteers in a controlled and carefully supervised manner. The laboratory is developing sequencing technology and simultaneously recruiting volunteers to be some of the first people to be sequenced. In addition to making the sequence data available to researchers and in some cases, the general public (with the permission of the volunteers), the PGP also seeks to help participants understand the impact that knowledge of one's genome sequence might have on them, their family, their health care decisions, and society as a whole.
The stakeholders in this technology, beyond the academic and corporate researchers involved with the scientific challenges, are numerous. Doctors, lawyers, policy makers, drug companies, public health agencies, elected officials, privacy advocates, insurers of all kinds, parents, teachers, children, law enforcement and many others will face new possibilities and challenges as a result of personal genome sequencing.
But the most important stakeholder is you. Personal sequencing will provide individuals with unprecedented knowledge and access to their own genetic information. By becoming a more active and informed health care consumers, comes to the power to transform and hopefully improve medicine.