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© 2016 Invitae Corporation. All Rights Reserved. 1
INVITAE:
Bringing genetic information into
mainstream medical practice
O VERVI EW FO R I NVESTO RS
APRI L 2016
© 2016 Invitae Corporation. All Rights Reserved. 2
Safe Harbor Statement
This presentationcontains forward-looking statements within the meaning of thePrivate Securities LitigationReform Act of
1995, including statements relating to thecompany’s expectations regarding its plans for 2016, including revenuelevels, the
cost of goods sold, the number of billable tests delivered, the number of genes in its test menu, and thenature andextent of
future reimbursement coverage; the company’s expectations regardingcontinued growth in 2016; and thetiming of any new
testing service releases and the benefits and attributes of any such services. Forward-looking statements are subject to risks
and uncertainties that couldcause actual results to differ materially, andreportedresults shouldnot be considered as an
indication of future performance. These risks and uncertainties include, but are not limited to: the company’s history of losses;
the company’s need to scale its infrastructure in advanceof demand for its tests and to increasedemandfor its tests; the
company’s ability to develop and commercialize new tests andexpand intonew markets; the risk that the company may not
obtain or maintain sufficient levels of reimbursement for its tests; risks associated with the company’s ability to use rapidly
changing genetic datato interprettest results accurately and consistently; the company’s ability to compete; laws and
regulations applicable to the company’s business, including potential regulationby the Food and Drug Administration; andthe
other risks set forth in the company’s filings with the Securities and Exchange Commission, includingthe risks set forth in the
company’s Annual Report on Form 10-K for the year ended December 31, 2015. These forward-looking statements speak only
as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-lookingstatements.
NOTE: Invitae and the Invitaelogo are trademarks of Invitae Corporation. All other trademarks andservice marks are the
property of their respective owners.
© 2016 Invitae Corporation. All Rights Reserved. 3
Genetic information has the
global opportunity to affect
billions of people
© 2016 Invitae Corporation. All Rights Reserved. 4
Invitae’s story:
Bringing a new era
of genome-centric healthcare
to billions of people
Everyone has a unique
genome that has a significant
impact on their health
There are over 4,000 medically
important genetic tests today –
most of which are over-priced
and under-utilized
High quality, low priced
genetic testing will dramatically
increase the total market to
everyone with access to
healthcare
© 2016 Invitae Corporation. All Rights Reserved. 5
~2-5%
1 in 20 to 1 in 50 healthy people
has a gene mutation that puts
them at risk for a medically
actionable condition
~0.5-5%
1 in 20 to 1 in 200 people
carry the Factor V Leiden
variant that may increase
risk for blood clotting
~5-10%
1 in 20 to 1 in 10 of all
cancers are likely to
have a hereditary basis
Genetic conditions affect everyone
“Rare” genetic conditions are actually common in the aggregate
1 in 250 people has a
gene mutation that may
lead to early onset
cardiovascular disease
0.4%
~2%
1 in 50 new births result in a
complication involving a
genetic condition
0.3%
1 in 300 will have an
epileptic seizure during
their lifetime
~100%
Everyone is carrying mutations
that can cause severe illness in
a child if the child’s other parent
provides a mutation in the
same gene
~100%
Virtually everyone is carrying
mutations affectingdrug response
Everyone carries mutations in their genome that cause disease, affect drug response
or recessive genetic conditions that may affect their families
© 2016 Invitae Corporation. All Rights Reserved. 6
Unknown
Limited
Low
Complexity of Diagnosis
High
NumberofGenesInvolved
Exomes/Genomes
Large gene panels
Small gene panels
Single Gene
Testing
Variant
testing
Sickle-cell anemia
High risk
breast cancer
Hypertrophic
cardiomyopathy
Diagnostic Odyssey
BRCA1
Historically, genetic testing was limited by cost
© 2016 Invitae Corporation. All Rights Reserved. 7
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
© 2016 Invitae Corporation. All Rights Reserved. 8
Genetic testing is a multi-billion dollar industry today
§ 55,208 different genetic assays currently available
across 4,489 disorders and 5,328 genes
(GeneTests.org, January 7, 2016)
§ Over 673 laboratories and 1,068 clinics
(GeneTests.org, January 7, 2016)
§ Quality and content is variable
§ Prices can reach into the thousands of dollars and
even tens of thousands for complex tests
§ Turn around times can often be months or more
Invitae provides a new world of high
quality, low cost genetic testing
High Cost
Variable
Quality
§ Comprehensive content across all disease areas
§ High quality peer-reviewed science
§ One-stop online ordering for any and every high
quality genetic test
§ Fast turn around times
§ Open and transparent pricing below $1,000
for patients and contracted payers with
full reimbursement support
…but it’s highly fragmented, inefficient,
and prohibitively expensive
© 2016 Invitae Corporation. All Rights Reserved. 9
Invitae is well positionedfor growth in 2016 and 2017
Bring comprehensive genetic
information into mainstream
medical practice to improve
the quality of healthcare for
billions of people
Our Mission Our Goal
Aggregate all the world’s
genetic tests into a single
platform to make genetics
affordable and accessible
for everyone
Adult symptomatic Pediatric genetics Health & wellness
2015 2016 2017
© 2016 Invitae Corporation. All Rights Reserved. 10
Only genetic testing laboratoryto aggregate the world’s
genetic tests into a high quality, affordableoffering
§ Recently expanded beyond cancer and cardiology with metabolic
disorders/newborn screening, neurology, and pediatric/rare diseases
§ Now has more than 1,000 genes in production for less than $1,000 –
achieved milestone a year early through R&D acceleration
© 2016 Invitae Corporation. All Rights Reserved. 11
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
~1,000 patient study head-to-head with Myriad
Analytical validity for BRCA testing
Analytical Concordance – 100%
Clinical validity for BRCA testing
Clinical Concordance – 99.8%
Demonstrated clinical utility beyond
BRCA for hereditary cancer panels
based on NCCN guidelines
>1,000 patient study demonstrating clinical utility
© 2016 Invitae Corporation. All Rights Reserved. 12
Invitae offers high quality at lower prices
Cost of out-of-network
denials and appeals
Patient pay
$475
Contracted Price
$950*
List Price
$1,500
*Contracted price is as low as $950 per indication depending on administrative criteria
§ One price per indication regardless the number of genes
§ Re-requisition at no additional charge within 90 days in original indication
§ Patient pay alternative for those who do not meet insurance criteria
Depends on
administrative criteria
Upfront payment
© 2016 Invitae Corporation. All Rights Reserved. 13
21st century approach to medical genetics
§ One laboratory process
§ One-stop online ordering
§ One low price per indication
Hereditary Cancer Syndromes
World-class
Talent
Great
Technology
Great
Automation
Peer-reviewed
Science
Economy of Scale
Hereditary Neurological Conditions
Hereditary Cardiac Conditions
© 2016 Invitae Corporation. All Rights Reserved. 14
Foundational year: demonstrated scalabilityand growth
201520142013
>19,000 billablereports
>3,600 billable reports
229 billable reports
Q1 Q2 Q3 Q4 Q1 Q2 Q3 Q4Q1 Q2 Q3 Q4
Lessons learned from 2015
§ Content, quality and affordability drive volume
§ Small, targeted sales force effective in reaching
genetics providers
Increased
content and
decreased
prices
Tripled
our
content
Sales reps: 1 2 3 6 10 14 16 210
© 2016 Invitae Corporation. All Rights Reserved. 15
Measuring our success in 2015
Reducing COGS
enables us to release
more content
More content (genes)
enables us to drive
more volume
More volume enables
us to accelerate
reimbursement
Reimbursement enables
us to reinvest in
reducing COGS
© 2016 Invitae Corporation. All Rights Reserved. 16
Measuring our success in 2015
2015 COGS per sample
>200
genes
>600
genes
2015 Content on assays2015 Revenue
Q1
$1.2M
Q2
$1.6M
Q3
$2.2M
2015 Volume by Billable Reports
Q1
2,200
Q2
4,100
Q4
7,000
Q3
5,500
Q4
$3.2M
Q1
$1,250
Q2
$850
Q3
$750
Q4
$700
© 2016 Invitae Corporation. All Rights Reserved. 17
Measuring our success in 2015
2015 COGS per sample
>200
genes
>600
genes
2015 Content on assays
2015 Volume by Billable Reports
Q1
2,200
Q2
4,100
Q4
7,000
Q3
5,500
Q1
$1,250
Q2
$850
Q3
$750
Q4
$700
2015 Reimbursement Contracts
§ 41 Institutional contracts
§ Blue Shield of CA
§ BCBS Association
§ Tufts Health Plan
§ OSU Health Plan
§ SelectHealth
§ Others
© 2016 Invitae Corporation. All Rights Reserved. 18
Measuring our success in 2016
COGS
Content
Volume
Reimbursement
© 2016 Invitae Corporation. All Rights Reserved. 19
Accelerating menu releases
Driving down COGS
Measuring our success in 2016
Medicare and
top major private insurers
in network
>200
genes
>600
genes
>3,000
genes
Q4:2016
< $
500Q4:2014
$1,500
Q4:2015
$700
Billable reports delivered
3.6K
reports
19K
reports
50K-70K
reports
2016
2015
2014
20152013
2016
© 2016 Invitae Corporation. All Rights Reserved. 20
~2-5%
1 in 20 to 1 in 50 healthy people
has a gene mutation that puts
them at risk for a medically
actionable condition
~0.5-5%
1 in 20 to 1 in 200 people
carry the Factor V Leiden
variant that may increase
risk for blood clotting
~5-10%
1 in 20 to 1 in 10 of all
cancers are likely to
have a hereditary basis
Genetic conditions affect everyone
“Rare” genetic conditions are actually common in the aggregate
1 in 250 people has a
gene mutation that may
lead to early onset
cardiovascular disease
0.4%
~2%
1 in 50 new births result in a
complication involving a
genetic condition
0.3%
1 in 300 will have an
epileptic seizure during
their lifetime
~100%
Everyone is carrying mutations
that can cause severe illness in
a child if the child’s other parent
provides a mutation in the
same gene
~100%
Virtually everyone is carrying
mutations affectingdrug response
Everyone carries mutations in their genome that cause disease, affect drug response
or recessive genetic conditions that may affect their families
✓
✓
✓
✓
✓
© 2016 Invitae Corporation. All Rights Reserved. 21
0.3%
~0.5-5%
~2-5%
Evaluating risk for medically
actionable disorders in
healthy adults
~5-10%
Genetic conditions affect everyone
“Rare” genetic conditions are actually common in the aggregate
0.4%
~2%
~100%
Testing genes for recessive
variants in individuals
interested in pre-conception
and family risk assessment
~100%
Testing specific genetic variants
linked to drug efficacy
Everyone carries mutations in their genome that cause disease, affect drug response
or recessive genetic conditions that may affect their families
Expanding menu by the end of 2016
✓
✓
✓
✓
✓
✓
✓
✓
© 2016 Invitae Corporation. All Rights Reserved. 22
Genetic
Testing
Make genetic
testing more
affordable and
more accessible
than ever before
Genome
Management
Build a genome
management
infrastructure
Genome
Network
Share genetic
information on a
global scale to
advance healthcare
and clinical
outcomes
High volume market
for genetic testing
with focus on quality
and price
Genomics will create
value over the lifetime
of a customer
Monetizing networks
for permission-based
sharing of genetic
information
The three phases of our business model
© 2016 Invitae Corporation. All Rights Reserved. 23
Invitae is piloting 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
© 2016 Invitae Corporation. All Rights Reserved. 24
Invitae will pilot its adult prevention panel in H1 2016
Genetic
Testing
Invitae will pilot its adult prevention panel in H1 2016
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
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
Expanded test menu fuels 2016 Genome Management
and Genome Network milestones
© 2016 Invitae Corporation. All Rights Reserved. 25
Invitae will pilot its adult prevention panel in H1 2016
Genetic
Testing
Genome
Management
Invitae will pilot its adult prevention panel in H1 2016
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
© 2016 Invitae Corporation. All Rights Reserved. 26
Patients own and control their own genetic information
STORE Simply store your genetic information
LEARN Understand more about your genome
SHARE Family members, physician, networks, no-one
PARTICIPATE Research, development, clinical trials, marketing
DONATE Medical research, genomic philanthropy
MEDICAL CONDITION
MEDICATIONS
HAVING KIDS
INJURIES OR SURGERIES
HEALTH ISSUES
AGING GRACEFULLY
NEONATAL
Genome Management
Clinical diagnostics
PGx screening
Carrier testing
Bleeding disorder screening
Focused clinical trials
Preventative health
Newborn screening
Invitae’s vision: building a customer for life
Genomics-informed medicine over the course of a patient’s lifetime
© 2016 Invitae Corporation. All Rights Reserved. 27
Billable tests
2014-2015 revenue ($k)
$118 $301 $310
$876
$1,200
$1,800
$2,200
$3,200
Q1:2014 Q2:2014 Q3:2014 Q4:2014 Q1:2015 Q2:2015 Q3:2015 Q4:2015
200 500 1,100 1,800 2,200
4,400 5,100
7,000
Q1:2014 Q2:2014 Q3:2014 Q4:2014 Q1:2015 Q2:2015 Q3:2015 Q4:2015
§ Expenses are incurred
for tests in the period
in which the test is
conducted
§ Balance sheet cash
and cash equivalents
of $131.8M as of
December 31,2015
§ Note: billable test
numbers and revenues
are approximate
Financial summary
© 2016 Invitae Corporation. All Rights Reserved. 28
Expand
content
Improve
customer
experience
Drive
Volume
Attract
Partners
Growth
Lower
costs
Lower
prices
Invitae’s flywheel for future growth
NVTA Overview for Investors April 2016

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NVTA Overview for Investors April 2016

  • 1. © 2016 Invitae Corporation. All Rights Reserved. 1 INVITAE: Bringing genetic information into mainstream medical practice O VERVI EW FO R I NVESTO RS APRI L 2016
  • 2. © 2016 Invitae Corporation. All Rights Reserved. 2 Safe Harbor Statement This presentationcontains forward-looking statements within the meaning of thePrivate Securities LitigationReform Act of 1995, including statements relating to thecompany’s expectations regarding its plans for 2016, including revenuelevels, the cost of goods sold, the number of billable tests delivered, the number of genes in its test menu, and thenature andextent of future reimbursement coverage; the company’s expectations regardingcontinued growth in 2016; and thetiming of any new testing service releases and the benefits and attributes of any such services. Forward-looking statements are subject to risks and uncertainties that couldcause actual results to differ materially, andreportedresults shouldnot be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company’s history of losses; the company’s need to scale its infrastructure in advanceof demand for its tests and to increasedemandfor its tests; the company’s ability to develop and commercialize new tests andexpand intonew markets; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; risks associated with the company’s ability to use rapidly changing genetic datato interprettest results accurately and consistently; the company’s ability to compete; laws and regulations applicable to the company’s business, including potential regulationby the Food and Drug Administration; andthe other risks set forth in the company’s filings with the Securities and Exchange Commission, includingthe risks set forth in the company’s Annual Report on Form 10-K for the year ended December 31, 2015. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-lookingstatements. NOTE: Invitae and the Invitaelogo are trademarks of Invitae Corporation. All other trademarks andservice marks are the property of their respective owners.
  • 3. © 2016 Invitae Corporation. All Rights Reserved. 3 Genetic information has the global opportunity to affect billions of people
  • 4. © 2016 Invitae Corporation. All Rights Reserved. 4 Invitae’s story: Bringing a new era of genome-centric healthcare to billions of people Everyone has a unique genome that has a significant impact on their health There are over 4,000 medically important genetic tests today – most of which are over-priced and under-utilized High quality, low priced genetic testing will dramatically increase the total market to everyone with access to healthcare
  • 5. © 2016 Invitae Corporation. All Rights Reserved. 5 ~2-5% 1 in 20 to 1 in 50 healthy people has a gene mutation that puts them at risk for a medically actionable condition ~0.5-5% 1 in 20 to 1 in 200 people carry the Factor V Leiden variant that may increase risk for blood clotting ~5-10% 1 in 20 to 1 in 10 of all cancers are likely to have a hereditary basis Genetic conditions affect everyone “Rare” genetic conditions are actually common in the aggregate 1 in 250 people has a gene mutation that may lead to early onset cardiovascular disease 0.4% ~2% 1 in 50 new births result in a complication involving a genetic condition 0.3% 1 in 300 will have an epileptic seizure during their lifetime ~100% Everyone is carrying mutations that can cause severe illness in a child if the child’s other parent provides a mutation in the same gene ~100% Virtually everyone is carrying mutations affectingdrug response Everyone carries mutations in their genome that cause disease, affect drug response or recessive genetic conditions that may affect their families
  • 6. © 2016 Invitae Corporation. All Rights Reserved. 6 Unknown Limited Low Complexity of Diagnosis High NumberofGenesInvolved Exomes/Genomes Large gene panels Small gene panels Single Gene Testing Variant testing Sickle-cell anemia High risk breast cancer Hypertrophic cardiomyopathy Diagnostic Odyssey BRCA1 Historically, genetic testing was limited by cost
  • 7. © 2016 Invitae Corporation. All Rights Reserved. 7 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
  • 8. © 2016 Invitae Corporation. All Rights Reserved. 8 Genetic testing is a multi-billion dollar industry today § 55,208 different genetic assays currently available across 4,489 disorders and 5,328 genes (GeneTests.org, January 7, 2016) § Over 673 laboratories and 1,068 clinics (GeneTests.org, January 7, 2016) § Quality and content is variable § Prices can reach into the thousands of dollars and even tens of thousands for complex tests § Turn around times can often be months or more Invitae provides a new world of high quality, low cost genetic testing High Cost Variable Quality § Comprehensive content across all disease areas § High quality peer-reviewed science § One-stop online ordering for any and every high quality genetic test § Fast turn around times § Open and transparent pricing below $1,000 for patients and contracted payers with full reimbursement support …but it’s highly fragmented, inefficient, and prohibitively expensive
  • 9. © 2016 Invitae Corporation. All Rights Reserved. 9 Invitae is well positionedfor growth in 2016 and 2017 Bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people Our Mission Our Goal Aggregate all the world’s genetic tests into a single platform to make genetics affordable and accessible for everyone Adult symptomatic Pediatric genetics Health & wellness 2015 2016 2017
  • 10. © 2016 Invitae Corporation. All Rights Reserved. 10 Only genetic testing laboratoryto aggregate the world’s genetic tests into a high quality, affordableoffering § Recently expanded beyond cancer and cardiology with metabolic disorders/newborn screening, neurology, and pediatric/rare diseases § Now has more than 1,000 genes in production for less than $1,000 – achieved milestone a year early through R&D acceleration
  • 11. © 2016 Invitae Corporation. All Rights Reserved. 11 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 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 FLA 5.2.0 DTD Š JMDI426_proof Š 22 July 2015 Š 1:34 am Š EO: JMD14_0252 ~1,000 patient study head-to-head with Myriad Analytical validity for BRCA testing Analytical Concordance – 100% Clinical validity for BRCA testing Clinical Concordance – 99.8% Demonstrated clinical utility beyond BRCA for hereditary cancer panels based on NCCN guidelines >1,000 patient study demonstrating clinical utility
  • 12. © 2016 Invitae Corporation. All Rights Reserved. 12 Invitae offers high quality at lower prices Cost of out-of-network denials and appeals Patient pay $475 Contracted Price $950* List Price $1,500 *Contracted price is as low as $950 per indication depending on administrative criteria § One price per indication regardless the number of genes § Re-requisition at no additional charge within 90 days in original indication § Patient pay alternative for those who do not meet insurance criteria Depends on administrative criteria Upfront payment
  • 13. © 2016 Invitae Corporation. All Rights Reserved. 13 21st century approach to medical genetics § One laboratory process § One-stop online ordering § One low price per indication Hereditary Cancer Syndromes World-class Talent Great Technology Great Automation Peer-reviewed Science Economy of Scale Hereditary Neurological Conditions Hereditary Cardiac Conditions
  • 14. © 2016 Invitae Corporation. All Rights Reserved. 14 Foundational year: demonstrated scalabilityand growth 201520142013 >19,000 billablereports >3,600 billable reports 229 billable reports Q1 Q2 Q3 Q4 Q1 Q2 Q3 Q4Q1 Q2 Q3 Q4 Lessons learned from 2015 § Content, quality and affordability drive volume § Small, targeted sales force effective in reaching genetics providers Increased content and decreased prices Tripled our content Sales reps: 1 2 3 6 10 14 16 210
  • 15. © 2016 Invitae Corporation. All Rights Reserved. 15 Measuring our success in 2015 Reducing COGS enables us to release more content More content (genes) enables us to drive more volume More volume enables us to accelerate reimbursement Reimbursement enables us to reinvest in reducing COGS
  • 16. © 2016 Invitae Corporation. All Rights Reserved. 16 Measuring our success in 2015 2015 COGS per sample >200 genes >600 genes 2015 Content on assays2015 Revenue Q1 $1.2M Q2 $1.6M Q3 $2.2M 2015 Volume by Billable Reports Q1 2,200 Q2 4,100 Q4 7,000 Q3 5,500 Q4 $3.2M Q1 $1,250 Q2 $850 Q3 $750 Q4 $700
  • 17. © 2016 Invitae Corporation. All Rights Reserved. 17 Measuring our success in 2015 2015 COGS per sample >200 genes >600 genes 2015 Content on assays 2015 Volume by Billable Reports Q1 2,200 Q2 4,100 Q4 7,000 Q3 5,500 Q1 $1,250 Q2 $850 Q3 $750 Q4 $700 2015 Reimbursement Contracts § 41 Institutional contracts § Blue Shield of CA § BCBS Association § Tufts Health Plan § OSU Health Plan § SelectHealth § Others
  • 18. © 2016 Invitae Corporation. All Rights Reserved. 18 Measuring our success in 2016 COGS Content Volume Reimbursement
  • 19. © 2016 Invitae Corporation. All Rights Reserved. 19 Accelerating menu releases Driving down COGS Measuring our success in 2016 Medicare and top major private insurers in network >200 genes >600 genes >3,000 genes Q4:2016 < $ 500Q4:2014 $1,500 Q4:2015 $700 Billable reports delivered 3.6K reports 19K reports 50K-70K reports 2016 2015 2014 20152013 2016
  • 20. © 2016 Invitae Corporation. All Rights Reserved. 20 ~2-5% 1 in 20 to 1 in 50 healthy people has a gene mutation that puts them at risk for a medically actionable condition ~0.5-5% 1 in 20 to 1 in 200 people carry the Factor V Leiden variant that may increase risk for blood clotting ~5-10% 1 in 20 to 1 in 10 of all cancers are likely to have a hereditary basis Genetic conditions affect everyone “Rare” genetic conditions are actually common in the aggregate 1 in 250 people has a gene mutation that may lead to early onset cardiovascular disease 0.4% ~2% 1 in 50 new births result in a complication involving a genetic condition 0.3% 1 in 300 will have an epileptic seizure during their lifetime ~100% Everyone is carrying mutations that can cause severe illness in a child if the child’s other parent provides a mutation in the same gene ~100% Virtually everyone is carrying mutations affectingdrug response Everyone carries mutations in their genome that cause disease, affect drug response or recessive genetic conditions that may affect their families ✓ ✓ ✓ ✓ ✓
  • 21. © 2016 Invitae Corporation. All Rights Reserved. 21 0.3% ~0.5-5% ~2-5% Evaluating risk for medically actionable disorders in healthy adults ~5-10% Genetic conditions affect everyone “Rare” genetic conditions are actually common in the aggregate 0.4% ~2% ~100% Testing genes for recessive variants in individuals interested in pre-conception and family risk assessment ~100% Testing specific genetic variants linked to drug efficacy Everyone carries mutations in their genome that cause disease, affect drug response or recessive genetic conditions that may affect their families Expanding menu by the end of 2016 ✓ ✓ ✓ ✓ ✓ ✓ ✓ ✓
  • 22. © 2016 Invitae Corporation. All Rights Reserved. 22 Genetic Testing Make genetic testing more affordable and more accessible than ever before Genome Management Build a genome management infrastructure Genome Network Share genetic information on a global scale to advance healthcare and clinical outcomes High volume market for genetic testing with focus on quality and price Genomics will create value over the lifetime of a customer Monetizing networks for permission-based sharing of genetic information The three phases of our business model
  • 23. © 2016 Invitae Corporation. All Rights Reserved. 23 Invitae is piloting 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
  • 24. © 2016 Invitae Corporation. All Rights Reserved. 24 Invitae will pilot its adult prevention panel in H1 2016 Genetic Testing Invitae will pilot its adult prevention panel in H1 2016 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 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 Expanded test menu fuels 2016 Genome Management and Genome Network milestones
  • 25. © 2016 Invitae Corporation. All Rights Reserved. 25 Invitae will pilot its adult prevention panel in H1 2016 Genetic Testing Genome Management Invitae will pilot its adult prevention panel in H1 2016 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
  • 26. © 2016 Invitae Corporation. All Rights Reserved. 26 Patients own and control their own genetic information STORE Simply store your genetic information LEARN Understand more about your genome SHARE Family members, physician, networks, no-one PARTICIPATE Research, development, clinical trials, marketing DONATE Medical research, genomic philanthropy MEDICAL CONDITION MEDICATIONS HAVING KIDS INJURIES OR SURGERIES HEALTH ISSUES AGING GRACEFULLY NEONATAL Genome Management Clinical diagnostics PGx screening Carrier testing Bleeding disorder screening Focused clinical trials Preventative health Newborn screening Invitae’s vision: building a customer for life Genomics-informed medicine over the course of a patient’s lifetime
  • 27. © 2016 Invitae Corporation. All Rights Reserved. 27 Billable tests 2014-2015 revenue ($k) $118 $301 $310 $876 $1,200 $1,800 $2,200 $3,200 Q1:2014 Q2:2014 Q3:2014 Q4:2014 Q1:2015 Q2:2015 Q3:2015 Q4:2015 200 500 1,100 1,800 2,200 4,400 5,100 7,000 Q1:2014 Q2:2014 Q3:2014 Q4:2014 Q1:2015 Q2:2015 Q3:2015 Q4:2015 § Expenses are incurred for tests in the period in which the test is conducted § Balance sheet cash and cash equivalents of $131.8M as of December 31,2015 § Note: billable test numbers and revenues are approximate Financial summary
  • 28. © 2016 Invitae Corporation. All Rights Reserved. 28 Expand content Improve customer experience Drive Volume Attract Partners Growth Lower costs Lower prices Invitae’s flywheel for future growth