California company Complete Genomics promises in the first half of next year to begin decoding the full genetic sequences at a price of just $ 5,000 for all of about 3 billion nucleotide pairs of the human genome. It is about 20 times cheaper than the current cost, 50-70 times less than the price offered to end-users and 100 thousand times less than the price of the first composite genome decoded in 2003.
According to The New York Times, Complete Genomics will not sell their services to end-customers directly, it is anticipated that it will work with companies that already «sell genomes» at a price ten times higher. Насколько снизится конечная цена, пока не ясно, но речь идёт, вероятно, о многократном падении стоимости услуги. It's not yet clear, how much the actual price will decrease, but it is likely to drop the cost of multiple services.
A leading manufacturer of equipment for decoding genomes, California company Applied Biosystems, has previously reported that its next-generation machines ready to enter the market, will be able to decipher the genome for about $ 10 thousand. However, this figure includes only reagents and other consumables, and do not include depreciation of equipment and the cost of the service personnel.
How Complete Genomics is going to reduce the price by half, is not yet clear, but the trend of lower prices leading manufacturers like Applied Biosystems and Illumina offers hope that the achievement of a $1000 goal per genome, which many experts see the beginning of an era of mass genomics.
Tuesday, October 7, 2008
Wednesday, October 1, 2008
Your Genome Is Scanned. What's next?
Number of new genetic companies scan the genome of anyone who desires for about $1,000, and communicate information of interest to the customer. This may be information relating to his ancestry, the data on the health status or genetic predisposition to a disease, and much more. The customer can compare their genome with the genome of a celebrity or relatives and friends. Despite the impressive results and assured precision, some experts believe that the information is rather entertaining and have a very indirect relation to the stated objectives.
Genetic testing "on demand" has been available for 10 years, but only in recent years number of scanned genes improved immeasurably. Previously, most of the tests included the identification of only a few gene variants, but today, with improved techniques of DNA chips, it's possible to conduct a rapid and inexpensive testing of many genes at once. Recently, the Navigenics company in Redwood Shores and 23andMe in Mountain View (California) and deCODE in Reykjavik (Iceland) began to scan the DNA markers to identify more than 20 diseases. Knome company in Cambridge (Massachusetts) expressed its intention to join the Craig Venter and James Watson project to create a database that includes personal decoded and sequenced genomes.
Now that genetic companies have the latest techniques, controlled nucleotide sequences and the extensive population data, they can easily identify genes associated with various pathologies, or determining the propensity to them. Unfortunately, the information received is not exhaustive, and sometimes even proved controversial. Muin Khoury, director of the division of genomics Centers for Diseases Control and Prevention warns about it. In his view, sequencing or scan of the genome to find markers of predisposition to a disease "does not provide any valuable information".
Predisposition does not mean that the person with corresponding genes is necessarily going to get sick (except for rare diseases associated with the anomaly in a single gene). The behavior of such complex biological systems as human body is determined by interactions between many genes, play an important role as RNA, chemical agents and other factors. Such complex diseases like diabetes or cardiovascular disease, developed under the influence of a variety of external factors, in conjunction with an uncertain number of genes.
With so many unknown parameters would be premature to make any predictions about health on the basis of the results of genetic testing. This is the opinion of Muin Khoury. In addition, he stresses, is not evident that information on genetic predisposition to disease persuades people to make a difference in their lives. And the doctors themselves do not always know how to benefit from the genome tests in practice. Moreover, as demonstrated by studies carried out in July 2006, by Government Control commission, in some cases, firms specializing in diet customization based on customers DNA testing, have not even done any genetic tests.
New genome-typing firms, have decided to abandon the practice of forecasting. They are considering DNA scanning only as a new tool to obtain medical information, which the customer can dispose of at their discretion - consult a doctor or take an independent decision on a diet or lifestyle. "Rather than wait until science come to a new level of development, it makes sense to properly use what it has now", - argues Mari Baker, the executive director of Navigenics. According to her, not all 1.8 million regions of the genome, which her company now scans, informative, but as soon as they pass into another capacity, customers can immediately take advantage of this. Navigenics plans to also include other information in the database, such as the health of family members, parents and more distant ancestors of customer and if they had received any medication.
Some experts fear that such openness could lead to undesirable consequences. As the practical benefits of a full genome scan is not yet clear, "ordinary people could lose its interest before the situation changes, and this method shows itself in the entire power", - thinks Sharon Terry, president of Genetic Alliance lawyers group. Parallel to development of such tools as a guide to monitor the health of all family members and their ancestors, or creating Wiki Genetics site, experts from the Genetic Alliance believe, that anti-discrimination measures must be implemented as well as monitoring of the rights to privacy of information, and improved quality and accessibility testing. So far, all attempts to amend the legislation has not been successful.
Navigenics, 23andMe and deCODE argue that customers are the owners of personal genetic data. But companies do not restrict access to the data to their partners - both commercial and non-profits engaged in basic research.
Muin Khoury believes that to date the most affordable and effective tool for personalized medicine is a family history of diseases - a resource that cost almost nothing is at the same time, help detect the effects of many genes, and take into account environmental and behavioral factors. But only a third of families have this information. Genome-typing - certainly a step forward in personalized medicine, "but it may take a long time, until genetic data will become a routine tool for doctors", - sure Khoury.
Genetic testing "on demand" has been available for 10 years, but only in recent years number of scanned genes improved immeasurably. Previously, most of the tests included the identification of only a few gene variants, but today, with improved techniques of DNA chips, it's possible to conduct a rapid and inexpensive testing of many genes at once. Recently, the Navigenics company in Redwood Shores and 23andMe in Mountain View (California) and deCODE in Reykjavik (Iceland) began to scan the DNA markers to identify more than 20 diseases. Knome company in Cambridge (Massachusetts) expressed its intention to join the Craig Venter and James Watson project to create a database that includes personal decoded and sequenced genomes.
Now that genetic companies have the latest techniques, controlled nucleotide sequences and the extensive population data, they can easily identify genes associated with various pathologies, or determining the propensity to them. Unfortunately, the information received is not exhaustive, and sometimes even proved controversial. Muin Khoury, director of the division of genomics Centers for Diseases Control and Prevention warns about it. In his view, sequencing or scan of the genome to find markers of predisposition to a disease "does not provide any valuable information".
Predisposition does not mean that the person with corresponding genes is necessarily going to get sick (except for rare diseases associated with the anomaly in a single gene). The behavior of such complex biological systems as human body is determined by interactions between many genes, play an important role as RNA, chemical agents and other factors. Such complex diseases like diabetes or cardiovascular disease, developed under the influence of a variety of external factors, in conjunction with an uncertain number of genes.
With so many unknown parameters would be premature to make any predictions about health on the basis of the results of genetic testing. This is the opinion of Muin Khoury. In addition, he stresses, is not evident that information on genetic predisposition to disease persuades people to make a difference in their lives. And the doctors themselves do not always know how to benefit from the genome tests in practice. Moreover, as demonstrated by studies carried out in July 2006, by Government Control commission, in some cases, firms specializing in diet customization based on customers DNA testing, have not even done any genetic tests.
New genome-typing firms, have decided to abandon the practice of forecasting. They are considering DNA scanning only as a new tool to obtain medical information, which the customer can dispose of at their discretion - consult a doctor or take an independent decision on a diet or lifestyle. "Rather than wait until science come to a new level of development, it makes sense to properly use what it has now", - argues Mari Baker, the executive director of Navigenics. According to her, not all 1.8 million regions of the genome, which her company now scans, informative, but as soon as they pass into another capacity, customers can immediately take advantage of this. Navigenics plans to also include other information in the database, such as the health of family members, parents and more distant ancestors of customer and if they had received any medication.
Some experts fear that such openness could lead to undesirable consequences. As the practical benefits of a full genome scan is not yet clear, "ordinary people could lose its interest before the situation changes, and this method shows itself in the entire power", - thinks Sharon Terry, president of Genetic Alliance lawyers group. Parallel to development of such tools as a guide to monitor the health of all family members and their ancestors, or creating Wiki Genetics site, experts from the Genetic Alliance believe, that anti-discrimination measures must be implemented as well as monitoring of the rights to privacy of information, and improved quality and accessibility testing. So far, all attempts to amend the legislation has not been successful.
Navigenics, 23andMe and deCODE argue that customers are the owners of personal genetic data. But companies do not restrict access to the data to their partners - both commercial and non-profits engaged in basic research.
Muin Khoury believes that to date the most affordable and effective tool for personalized medicine is a family history of diseases - a resource that cost almost nothing is at the same time, help detect the effects of many genes, and take into account environmental and behavioral factors. But only a third of families have this information. Genome-typing - certainly a step forward in personalized medicine, "but it may take a long time, until genetic data will become a routine tool for doctors", - sure Khoury.
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