What is available now? Who are the stakeholders?
Personal, inexpensive, and widely available genomic sequencing technology is not here yet, but most researchers believe that it is just around the corner. Currently, there are a handful of companies that offer a different type of genetic analysis that maps common DNA variations at up to 1 million sites throughout the genome (rather than sequencing the billions of nucleotides that comprise your entire genome). 23andme, deCODEme, and Navigenics are privately held companies that offer this type of genetic analysis as a direct to consumer package for several hundred to several thousand dollars. Knome recently announced that they are offering whole genome sequencing analysis to a small number of individuals for $350,000.
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.
Those developing various technological approaches to the “1K genome” include Applied Biosystems, the laboratory of Professor George Church, Firebird Molecular Sciences, Foundation for Applied Molecular Evolution, Helicos, Illumina (formerly Solexa), 454 Life Sciences, Reveo, and VisiGen Biotechnologies.
The Archon X Prize for Genomics seeks to stimulate development of inexpensive DNA sequencing technology by offering a 10 million dollar prize to the first team (or teams) to sequence 100 human genomes in 10 days. They have recruited a group of 100 volunteers who are willing to have their genome sequenced. These individuals, known as members of the "Genome 100", include public figures in the fields of science, technology, and media.
The Personal Genome Project (PGP), housed in the laboratory of Professor George Church at Harvard Medical School, is a research study that seeks to provide limited sequence information (looking at only the protein-coding regions of the genome) to individuals 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, privacy advocates, insurers of all kinds, parents, teachers, children, law enforcement and many others will face new possibilities and challenges as a result of 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.