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What Will It Take to Sequence an Individual's Genome for Under $1,000 in Less Than 10 Years?
Pages 73-82

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From page 73...
... An individualized approach to medicine requires the ready acquisition of information about the sequence of individual persons' genomes with reliable technology at acceptable costs. Thus, the ability to sequence an individual person's genome for under $1,000 within the next 10 years has been set as a goal.
From page 74...
... · Is it indeed so far fetched or can it be done for each individual using analysis of the cluster (macro-level) variations from the baseline of a generic human genome?
From page 75...
... WORKING GROUP SUMMARY Summary written by: Leah Moore Eisenstadt, Graduate Student, Science Journalism, Boston University Working group members: · Steven Brenner, Associate Professor, Plant and Microbial Biology, University of California, Berkeley · Siobhan Dolan, Obstetrics, Gynecology and Women's Health, Albert Einstein College of Medicine and March of Dimes Birth Defects Foundation · Leah Moore Eisenstadt, Graduate Student, Science Journalism, Boston University · Mark Guyer, Director, Division of Extramural Research, The National Human Genome Research Institute · Leonid Kruglyak, Professor of Ecology and Evolutionary Biology, Lewis-Sigler Institute for Integrative Genomics, Princeton University
From page 76...
... The Washington Post said that the project "revealed in exquisite detail the genetic blueprint underlying all human life." The Boston Globe deemed the genome "the last milestone for one of the modern era's grandest scientific endeavors." The project cost $3 billion to complete, and despite today's technology, which has advanced significantly since the start of the project in 1990, it would cost a whopping $20 million to do it again. Lowering the cost of sequencing would make the genome both a useful research tool and a potential avenue to personalized clinical management and treatment.
From page 77...
... The group, however, saw the research uses of the $1,000 genome as being much more promising much sooner. A cheaper genome could allow scientists to characterize all the differences between a given human genome and a reference genome and help identify possible genetic sources of disease.
From page 78...
... "It's not the main goal to resequence genomes over and over," he said, referring to the narrow focus of the working group's question at hand. "The main goal is to get cheaper sequencing in general." Mark Guyer, director of the Division of Extramural Research at The National Human Genome Research Institute, agreed.
From page 79...
... "Maybe structural things and epigenetics are important in health and disease; we don't know how much simple sequence is tied to that." How do we get to the $1,000 genome? When the Human Genome Project began in 1990, the cost of sequencing was $10 per base pair.
From page 80...
... But our group recognized that significant public and private funding would need to be in place for these companies to develop new technology, in addition to a biological driver. Mark Guyer told the group that the National Human Genome Research Institute is spending $25 million per year in grants to (1)
From page 81...
... The group agreed that a costeffective human genome would not be a panacea in terms of health care. Eric Topol said, "No matter if you had the whole ball of wax, it's only a small piece of the story, not including the interaction of genes or environment." Hunt Willard responded, "But you could do more research faster with the $1,000 genome." Even when genomic information can inform medical decisions, physicians may be reluctant to use it.


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