Invitae had a foundational year in 2017 that demonstrated its ability to scale operations and grow rapidly. The company processed over 350,000 genetic tests, a major increase from the previous year. Invitae aims to bring affordable, high-quality genetic testing to billions of people by leveraging improvements in technology that reduce costs through economies of scale. Currently, genetic testing is a multi-billion dollar industry, but most tests are not accessible due to high prices. Invitae hopes to dramatically increase access through its affordable pricing model.

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Safe Harbor Statement
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Bringing a new era
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to billions of people
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Historically, genetic testing was limited by cost

8. © 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 offers a comprehensivetest menu

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Invitae has demonstrated the quality of our service
A Systematic Comparison of Traditional and
Multigene Panel Testing for Hereditary Breast and
Ovarian Cancer Genes in More Than 1000 Patients
Stephen 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 of
Medicine,z
Stanford, California; and the Harvard Medical School,x
Boston, Massachusetts
Accepted for publication
April 28, 2015.
Address correspondence to
Stephen E. Lincoln, Invitae,
458Q5 Brannan St, San Francisco,
CA 94107. E-mail: steve.
lincoln@invitae.com.
Gene panels for hereditary breast and ovarian cancer risk assessment are gaining acceptance, even
though 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 with
traditional tests. We tested 1105 individuals using a 29-gene next-generation sequencing panel and
observed 100% analytical concordance with traditional and reference data on >750 comparable
variants. These 750 variants included technically challenging classes of sequence and copy number
variation that together represent a significant fraction (13.4%) of the pathogenic variants
observed. For BRCA1 and BRCA2, we also compared variant interpretations in traditional reports to
those 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 of
uncertain significance rate. In 4.5% of BRCA-negative cases, we uncovered pathogenic variants in
other genes, which appear clinically relevant. Previously unseen variants requiring interpretation
accumulated rapidly, even after 1000 individuals had been tested. We conclude that next-
generation sequencing panel testing can provide results highly comparable to traditional testing
and can uncover potentially actionable findings that may be otherwise missed. Challenges remain
for the broad adoption of panel tests, some of which will be addressed by the accumulation of large
public 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 tool
for disorders where similar phenotypes can be influenced by
multiple genes.1
Recent advances in next-generation DNA
sequencing technology (NGS) have enabled these clinical tests
and made them increasingly inexpensive to perform.2,3
For
hereditary cancer syndromes, studies have shown that NGS-
based panel tests can uncover potentially actionable findings
that may be missed by traditional testing paradigms.4e12
Vali-
dation studies of clinical NGS assays for hereditary cancer
genes have correspondingly been published,4,7,11,13,14
and
certain guidelines exist for their clinical implementation.15e18
Patient management experience using these hereditary cancer
panels is growing,4,19,20
although the clinical utility of these
Supported by The Friends Fighting Breast Cancer Q3, the Tracey Davis
Memorial 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 test
results used in this study. This study was an academic collaboration and not
a 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 paid
member of Invitae’s advisory board. Separately from this study, J.M.F. and
A.W.K. receive research funding from Myriad Genetics. L.W.E. is a
consultant to Bioreference/GeneDx Laboratories. S.E.L. owns stock in
Illumina, 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 Pathology
and 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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FLA 5.2.0 DTD Š JMDI426_proof Š 22 July 2015 Š 1:34 am Š EO: JMD14_0252
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The three phases of our business model

33. © 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 billion
Doctor visits
per year
50 million
Surgeries
per year
1.6 million
New cancers
per year
Heart attacks
per year1.5 million
4 million
Births
per year
3 million
New disabling
neurological
disorders per year
1 million
First time parents
per year
4 billion
Prescriptions written
per year

34. © 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 33© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 33
Invitae will draw from
the most common,
actionable genetic
content on its menu
to create a world-class,
medically relevant
adult 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

35. © 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
Genome
Network
Launch participatory
research study
networks:
! Adult prevention
research network
! Oncology research
network
! Cardiology research
network
Expanded test menu fuels 2016 Genome Management
and 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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