Direct-to-consumer genomics offerings

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1) The document provides information on various direct-to-consumer genomics companies and their offerings, including 23andMe, deCODEme, Navigenics, and others. 2) It discusses the declining prices of whole genome sequencing from $99,500 down to $48,000. 3) The document also briefly describes next-generation DNA sequencing technologies like Pacific Biosciences that can read DNA in real time.

Direct-to-Consumer Genomics Offerings: ongoing price declines Single condition Multiple conditions Whole genome Knome Cost $ 1 Research Edition (substantially the same offering) available through 9/31/09 2 Full genome: $99,500; exome: $24,500; research edition may be available for $48,000; $10,000 respectively Offering Breadth Public studies (specific disease or trait) (common diseases) $199-$348 $985 Matchmaking ScientificMatch $1,995 GenePartner $10-$99 $1,000 $399, $99 1 Paternity Genelux $200-$475 Identigene $149-$399 Zygosity Proactive Genetics $160-$240 Nutrigenomics APO E Gene Diet $389 Inherent Health $99 Illumina $48,000 23andme 111 conditions deCODEme 42 conditions Navigenics 128 conditions Coriell 15 conditions Scripps (Navigenics) 28 conditions School PGP Conditions undisclosed Harvard Medical Genomics 90 conditions Pathway $2,500 $999 $350,000 $99,500, $24,500 2 Genetic disorders, Predisposition DNA Direct $200-$3,500 Matrix Genomics $199-$799 Drug sensitivity,

Genomic era Carlson curves: 12 mo speedups ,[object Object],[object Object],[object Object],[object Object],Source: http://www.synthesis.cc/graphics/carlson_cost_per_base_nov_08.jpg

Direct-to-consumer genomics: 23andme Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes 580,000 SNPs scanned and mapped to 78 conditions

23andme colorectal cancer marker Source: http://www.23andme.com

Next-gen sequencing: Pacific Biosciences Sources: http://www.pacificbiosciences.com/video_lg.html, http://www.sciencemag.org/cgi/content/abstract/323/5910/133, Science 2 January 2009: Vol. 323. no. 5910, pp. 133 – 138, DOI: 10.1126/science.1162986 Phospholinked nucleotides DNA polymerase wrapped around DNA chain Phospholinked nucleotide binds, fluoresces and detaches as nucleotide base is read 1 2 3a 3b

This review by the National Data Guardian for Health and Care (NDG), Dame Fiona Caldicott, makes recommendations to the Secretary of State for Health. These are aimed at strengthening the safeguards for keeping health and care information secure and ensuring the public can make informed choices about how their data is used. The NDG proposes new data security standards for the NHS and social care, a method for testing compliance against the standards, and a new opt-out to make clear how people’s health and care information will be used and in what circumstances they can opt out. Dame Fiona’s report argues that the public should be engaged about how their information is used and safeguarded, and the benefits of data sharing, with a wide-ranging consultation on her proposals as a first step. A letter from Dame Fiona Caldicott and David Behan, Care Quality Commission Chief Executive, to the Health Secretary outlines the common themes between the NDG review and a review of data security in the NHS carried out by the CQC.

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Direct-to-consumer genomics offerings

1. Direct-to-Consumer Genomics Offerings: ongoing price declines Single condition Multiple conditions Whole genome Knome Cost $ 1 Research Edition (substantially the same offering) available through 9/31/09 2 Full genome: $99,500; exome: $24,500; research edition may be available for $48,000; $10,000 respectively Offering Breadth Public studies (specific disease or trait) (common diseases) $199-$348 $985 Matchmaking ScientificMatch $1,995 GenePartner $10-$99 $1,000 $399, $99 1 Paternity Genelux $200-$475 Identigene $149-$399 Zygosity Proactive Genetics $160-$240 Nutrigenomics APO E Gene Diet $389 Inherent Health $99 Illumina $48,000 23andme 111 conditions deCODEme 42 conditions Navigenics 128 conditions Coriell 15 conditions Scripps (Navigenics) 28 conditions School PGP Conditions undisclosed Harvard Medical Genomics 90 conditions Pathway $2,500 $999 $350,000 $99,500, $24,500 2 Genetic disorders, Predisposition DNA Direct $200-$3,500 Matrix Genomics $199-$799 Drug sensitivity,

3. Direct-to-consumer genomics: 23andme Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes 580,000 SNPs scanned and mapped to 78 conditions

4. 23andme colorectal cancer marker Source: http://www.23andme.com

5. Next-gen sequencing: Pacific Biosciences Sources: http://www.pacificbiosciences.com/video_lg.html, http://www.sciencemag.org/cgi/content/abstract/323/5910/133, Science 2 January 2009: Vol. 323. no. 5910, pp. 133 – 138, DOI: 10.1126/science.1162986 Phospholinked nucleotides DNA polymerase wrapped around DNA chain Phospholinked nucleotide binds, fluoresces and detaches as nucleotide base is read 1 2 3a 3b

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