NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92"...

39
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Transcript of NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92"...

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'<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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© 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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Page 14: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 15: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 16: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 17: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 18: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 19: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 20: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 21: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 22: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 23: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 24: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 25: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 26: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 27: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 28: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 29: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Page 31: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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The three phases of our business model

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© 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

Page 34: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

© 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

Page 35: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

© 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

Page 36: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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7*/+#'/,(&8'(*'2()&'/$&6( /0#+$(&8'(1#'#/+)(+'4&$-*/+&'

U_XZ= Simply store your genetic information

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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Invitae’s vision: building a customer for life

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Financial summary

Page 38: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;

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Invitae’s flywheel for future growth

Page 39: NVTA Investor Deck 030116 · 2016. 3. 16. · !"#$%&" '()*+,-" ./01/0,+*/(2" 344"5*67+8"5-8-0)-92" ":"".;