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!"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":" ".;<='>?<@'3A :""!!"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":" ".;<='>?<@'3A :""!
'<B'@3?CBringing genetic information into mainstream medical practice;B?5B'?D " =;5" ' <B?E@;5EF35.G" #$%H
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Safe Harbor Statement
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Foundational year: demonstrated scalability and growth
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Genetic information has the
global opportunity to affect
billions of people
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Invitae’s story:Bringing a new era of genome-centric healthcareto billions of people?)-0V/(-"7,8","S(*^S-"6-(/Q-"+7,+"7,8","8*6(*M*L,(+"*Q1,L+"/("+7-*0"7-,4+7
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Genetic conditions affect everyone
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Historically, genetic testing was limited by cost
© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 8© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 8
Exomes/Genomes
Large gene panels
Small gene panels
Single Gene
Testing
Variant
testing
Invitae offers one
price per indication
regardless of the
number of genes
Increasing number of genes
Cost
Cost of the first gene
Cost of increasing genes
Technology is improving
quality and creating
economy of scale
Invitae is changing the cost structure of the industry
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Genetic testing is a multi-billion dollar industry today
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Invitae is well positioned for growth in 2016 and 2017
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Invitae offers a comprehensive test menu
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Invitae has demonstrated the quality of our service
A Systematic Comparison of Traditional andMultigene Panel Testing for Hereditary Breast andOvarian Cancer Genes in More Than 1000 PatientsStephen E. Lincoln,* Yuya Kobayashi,* Michael J. Anderson,* Shan Yang,* Andrea J. Desmond,y Meredith A. Mills,z
Geoffrey B. Nilsen,* Kevin B. Jacobs,* Federico A. Monzon,* Allison W.Q35 Kurian,z James M. Ford,z and Leif W. Ellisenyx
Q2 From the Invitae,* San Francisco, California; the Massachusetts General Hospital Cancer Center,y Boston, Massachusetts; the Stanford University School ofMedicine,z Stanford, California; and the Harvard Medical School,x Boston, Massachusetts
Accepted for publicationApril 28, 2015.
Address correspondence toStephen E. Lincoln, Invitae,458Q5 Brannan St, San Francisco,CA 94107. E-mail: [email protected].
Gene panels for hereditary breast and ovarian cancer risk assessment are gaining acceptance, eventhough the clinical utility of these panels is not yet fully defined. Technical questions remain,however, about the performance and clinical interpretation of gene panels in comparison withtraditional tests. We tested 1105 individuals using a 29-gene next-generation sequencing panel andobserved 100% analytical concordance with traditional and reference data on >750 comparablevariants. These 750 variants included technically challenging classes of sequence and copy numbervariation that together represent a significant fraction (13.4%) of the pathogenic variantsobserved. For BRCA1 and BRCA2, we also compared variant interpretations in traditional reports tothose produced using only non-proprietary resources and following criteria based on recent (2015)guidelines. We observed 99.8% net report concordance, albeit with a slightly higher variant ofuncertain significance rate. In 4.5% of BRCA-negative cases, we uncovered pathogenic variants inother genes, which appear clinically relevant. Previously unseen variants requiring interpretationaccumulated rapidly, even after 1000 individuals had been tested. We conclude that next-generation sequencing panel testing can provide results highly comparable to traditional testingand can uncover potentially actionable findings that may be otherwise missed. Challenges remainfor the broad adoption of panel tests, some of which will be addressed by the accumulation of largepublic databases of annotated clinical variants. (J Mol Diagn 2015, -: 1e12; http://dx.doi.org/10.1016/j.jmoldx.2015.04.009)
MultigeneQ6 panel testing has proved useful as a diagnostic toolfor disorders where similar phenotypes can be influenced bymultiple genes.1 Recent advances in next-generation DNAsequencing technology (NGS) have enabled these clinical testsand made them increasingly inexpensive to perform.2,3 Forhereditary cancer syndromes, studies have shown that NGS-based panel tests can uncover potentially actionable findingsthat may be missed by traditional testing paradigms.4e12 Vali-dation studies of clinical NGS assays for hereditary cancergenes have correspondingly been published,4,7,11,13,14 andcertain guidelines exist for their clinical implementation.15e18
Patient management experience using these hereditary cancerpanels is growing,4,19,20 although the clinical utility of these
Supported by The Friends Fighting Breast Cancer Q3, the Tracey DavisMemorial Fund, and the Q4Breast Cancer Research Foundation.
Disclosures: The funding organizations had no role in the design,conduct, or reporting of this study. Invitae provided the 29-gene panel testresults used in this study. This study was an academic collaboration and nota sponsored research project: no other funding or compensation was pro-vided by Invitae. S.E.L., Y.K., M.J.A., S.Y., G.B.N., and F.A.M. are em-ployees of Invitae and own stock and/or stock options. J.M.F. is a paidmember of Invitae’s advisory board. Separately from this study, J.M.F. andA.W.K. receive research funding from Myriad Genetics. L.W.E. is aconsultant to Bioreference/GeneDx Laboratories. S.E.L. owns stock inIllumina, whose instruments were used in this study.
This paper conforms to the STARD guidelines (http://www.stard-statement.org) for reporting of diagnostic cohort studies.
Current address of K.B.J., 23andMe, Inc., Mountain View, CA.
Copyright ª 2015 American Society for Investigative Pathologyand the Association for Molecular Pathology.Published by Elsevier Inc. All rights reserved.http://dx.doi.org/10.1016/j.jmoldx.2015.04.009
jmd.amjpathol.org
The Journal of Molecular Diagnostics, Vol. -, No. -, - 2015
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Invitae offers high quality at lower prices
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21st century approach to medical genetics
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Foundational year: demonstrated scalability and growth
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The three phases of our business model
© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 32© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 32
Invitae is moving into health and wellness in 2016
Simple facts about the size of our healthcare economy where preventive genetics could help
1 billionDoctor visitsper year
50 millionSurgeriesper year
1.6 millionNew cancersper year
Heart attacksper year1.5 million
4 millionBirthsper year
3 millionNew disablingneurologicaldisorders per year
1 millionFirst time parentsper year
4 billionPrescriptions writtenper year
© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 33© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 33
Invitae will draw fromthe most common, actionable genetic
content on its menuto create a world-class,
medically relevantadult panel for
health and wellness
Invitae will pilot its adult prevention panel in H1 2016
Genetic Testing
Invitae will pilot its adult prevention panel in H1 2016
Testing genes for recessive variants in individuals interested in pre-conception and family risk assessment
Testing specific genetic variants linked to drug efficacy
Evaluating risk for medically actionable disorders in healthy adults
H1 2016
H2 2016
H2 2016
© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 34© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 34
Genetic Testing
Genome Management
Utilize our expanded content to launch our first health and wellness program, the adult prevention panel
GenomeNetwork
Launch participatory research study networks:
! Adult preventionresearch network
! Oncology research network
! Cardiology research network
Expanded test menu fuels 2016 Genome Managementand Genome Network milestones
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W=aZ` Understand more about your genome
UJaZ= Family members, physician, networks, no-one
baZ_CKCba_= Research, development, clinical trials, marketing
SX`a_= Medical research, genomic philanthropy
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