Frequently Asked Questions
What Is Archon In The Archon Genomics XPRIZE Name?
What Is The Difference Between Genetics And Genomics?
What Is A Medical Grade Genome?
Why Did We Choose Centenarians?
What Is The Difference Between Whole Human Genome Sequencing And Direct To Consumer (DTC) Genetic Testing?
Can Insurance Companies Use My Genetic Information To Deny Me Coverage?
How Many Genes Are In The Human Genome?
What Is Gene Therapy?
How Big Is The Human Genome?
What Is Haplotype Phasing?
What Does Completeness Mean?
The name Archon comes from the title sponsors who generously funded this XPRIZE, Dr. Stewart and Marilyn Blusson. Dr. Blusson is President of Archon Minerals, Ltd., a mining company in Canada.
Genetics is the study of inheritance, or the way traits are passed down from one generation to another. Genes carry the instructions for making proteins, which in turn direct the activities of cells and functions of the body that influence traits such as hair and eye color.
Genomics is a newer term that describes the study of all the genes in a person, including their specific DNA sequences. In addition, genomics studies interaction of those genes with each other and with that person’s environment. All living organisms store genetic instructions in their cells, which help determine how they grow and function. Scientists have begun to read and use these genetic instructions. Genomics examines genetic information to determine biological markers predisposing an individual to disease. Many diseases due to single gene defects have already been identified. New data obtained by whole human genome sequencing will help scientists better understand multifactorial diseases such as Alzheimer’s, diabetes, heart disease and cancer.
Currently, genome sequencing produces, at best, research-grade genomes for study. Through the Archon Genomics XPRIZE presented by Express Scripts, each set of the 100 human genomes will be sequenced by a competing Team. Depending on the number of Registered Teams, each genome could be sequenced independently up to 10 or more times! At the end of the competition in February 2013, all of the genomes will be examined for missing sequences. Where one Team misses a sequence, another Team will fill in the missing information. By comparing and combining the results from each Team, each of the 100 genomes will be more "complete" than any other genome, These composite redundant sequences will, for the first time in human history, provide scientists around the world with 100 whole genome sequences of unmatched medical-grade fidelity.
Those who live to be 100 years and older carry rare genes which promote healthy aging, as well as protection from diseases commonly associated with old age, like heart disease, Parkinson’s, Alzheimer’s and cancer. At the end of the Archon Genomics XPRIZE competition, 100 centenarians' genomes will be accessible to any researcher anywhere in the world.
By encouraging research to decode the genetic secrets to a long and healthy life, clinical, medical and drug therapies can be developed for mankind's most common and rare diseases.
Genomic research presents scientists with a tremendous opportunity to understand exactly how diseases develop at the molecular level, and how we can more precisely detect, prevent and treat diseases according to an individual’s unique genomic profile. Rapid, inexpensive and accurate genomic sequencing technology is required to advance medical breakthroughs and solve the underlying mysteries of diseases.
Whole Human Genome Sequencing is the process of determining the exact order of the three billion bases that make up the DNA within the 23 chromosomes in each human cell.
The sequencing completed by scientists to date has helped reveal the estimated 25,000 human genes within our DNA as well as the regions controlling them.
Direct To Consumer (DTC) Testing
Direct-to-Consumer (DTC) genetic testing is a service provided by private companies to individuals wanting to know their predisposition to known disease markers or their ancestry. You can purchase this type of genetic test without going through your insurance provider or primary care physician.
The DTC Tests do not reveal the entire human genome, rather portions of the genome where mutations can be detected for predispositions to various diseases. For well-informed consumers, DTC tests may provide another perspective to guide their healthcare and satisfy curiosity about their ancestry. The risk of DTC testing is that the test results may not be clinically validated and are not yet regulated by the FDA, which could lead to consumers making important decisions on their healthcare based on inaccurate information.
NOTE: At this time, there is no government agency regulating or validating claims of accuracy for whole genome sequencing or DTC testing.
No. On May 21 2008, then President Bush signed the Genetic Information Nondiscrimination Act (GINA) making it a Federal Law. GINA was created to protect Americans against discrimination from health insurance companies and employers, based on their genetic information. GINA unanimously passed the Senate and the House had just one “no” vote. The signing of this Act was the result of 13 years of debate, and assures Americans will reap the benefits whole genome sequencing has to offer without fear of prejudice.
The current consensus predicts about 25,000 genes.
Gene therapy is a technique for correcting the consequences of faulty genes responsible for disease development. Gene therapy usually involves the direct manipulation of the DNA of cells.
The human genome is made up of DNA, which has four different chemical building blocks. These are called bases and abbreviated A, T, C, and G. In the human genome, about six billion bases are arranged along the chromosomes in a particular order for each unique individual. To get an idea of the size of the human genome present in each of our cells: If the DNA sequence of the human genome were compiled in books, the equivalent of 200 volumes the size of a Manhattan telephone book (at 1000 pages each) would be needed to hold it all.
It would take about 19 years to read out loud (without stopping) the six billion bases in a person's genome sequence. This is calculated on a reading rate of 10 bases per second, equaling 600 bases/minute, 36,000 bases/hour, 864,000 bases/day, 315,360,000 bases/year.
Human beings have two copies of each chromosome (other than the X and Y sex chromosomes). Sperm and eggs have only one copy of each chromosome. When sperm and egg combine, one copy of each chromosome is inherited from the father (sperm) and one from the mother (egg).
Although each chromosome of a pair is very similar, there are also many differences. Such variations are very common and many contribute to our individual characteristics and traits. Some influence our looks and genetically based differences in our metabolism; still others help supply our personalities, well being and many other human traits.
The haplotype of a chromosome is defined as the identification of the differences between two chromosomes in a pair. If a person has two deleterious variations in a gene, knowing that mutation A is on the same chromosome as mutation B may well lead to a different physiology than having the two mutations on the opposite chromosomes. Geneticists believe that knowing the haplotype of each of the pairs of chromosomes will help better define an individuals susceptibility to disease, as well as assist in predicting and preventing disease.
Many modern DNA sequencing technologies are very accurate in finding the differences in the DNAs from comparable regions of the two chromosomes of a pair. In the absence of DNA samples from the parents, determining which set of differences is on which of the two chromosomes has proven to be difficult. Accordingly the Archon Genomics XPRIZE presented by Express Scripts, created a Prize Category for Haplotype Phasing, and considers having the ability to determine accurately the haplotype of whole human genome to be a breakthrough new technology.
Completeness is the percentage of the known genome. Even the most thoroughly sequenced whole human genome remains incomplete. Since every genome is uncharted territory it is difficult to know precisely what and how much is missing. The best estimates of the most thoroughly-studied whole human genomes suggests that between 5% and 8% is still undeciphered.
The reasons for the missing bits and pieces, which are scattered at many locations on essentially every chromosome, is that some kinds of DNA sequences are technically very difficult to sequence or arrange.