transforming the practice of medicinelsi-dev.sites.olt.ubc.ca/files/2015/06/sean-george.pdf ·...

TRANSFORMING THE PRACTICE OF MEDICINEJune 7-9th 2015, UBC, Vancouver, BC

Be part of the Personalized Medicine Revolution

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© 2015 Invitae Corporation. All Rights Reserved. | CONFIDENTIAL | 1

The Path to a Billion People: Genetics and Genomics on course for Mainstream Medical Practice P E R S O N A L I Z E D M E D I C I N E S U M M I T J U N E 2 0 1 5


Disclaimer §  This presentation contains forward-looking statements within the meaning of the Private

Securities Litigation Reform Act of 1995, including statements relating to the company’s belief that it can accelerate the adoption of comprehensive genetic information into mainstream medical care and realize its mission; the company’s expectations regarding the number of billable tests in 2015; the timing of any new testing service releases and the attributes of any such services; the company’s expectations regarding its average cost per billable test; the company’s beliefs regarding the benefits of its new pricing program; the attributes and benefits of the company’s genome management and genome network programs; and the indicators of the company’s success and its expected actions with respect to those indicators. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not 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 advance of demand for its tests and to increase demand for its tests; the company’s ability to develop and commercialize new tests and expand into new 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 data to interpret test results accurately and consistently; the company’s ability to compete; laws and regulations applicable to the company’s business, including potential regulation by the Food and Drug Administration; and the other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Form 10-Q for the quarter ended March 31, 2015. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.


It’s 1976 in silicon valley again


Disruption in process

Metcalfe’s “Law”

“Law” of Finite Genomes

Moore’s “Law”

DNA sequencing

technology is accelerating

Sharing genetic information will

accelerate clinical utility

Reverse Engineering Problem


Virtually everyone is carrying: •  loss of function mutations in their genome, •  recessive genetic conditions that may affect family members •  genetic mutations that may affect response to drugs

Approximately 0.01% of the U.S. population has taken a genetic test. About 10% have a genetic condition, most of which is undiagnosed.

~5-10% of all cancers are likely to have a hereditary basis

~0.5-5%

of the populations carries the Factor V Leiden

variant that may increase risk for blood clotting

0.4%

of the populations has a cardiac genetic condition

that may lead to early onset cardiovascular

disease

~2%

of the population has one of 52 genetic variants

that should be reported to patients as medically

actionable

Virtually everyone is carrying: §  Loss of function mutations in their genome §  Recessive genetic conditions that may affect family members §  Genetic mutations that may affect response to drugs

Genetic conditions affect everyone


Global opportunity for genetic testing

We believe genetic testing is a $3 billion U.S. market growing to at least $9 billion by 2021 (based on a UnitedHealth Group Inc. study)

There are more than 4,000 inherited genetic conditions with known genes and variants

There are over 39,000 different genetic assays currently available from over 650 commercial laboratories (according to genetests.org)

A multi-billion dollar market


Our mission

Bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people Core Principles:

Genetic information is more valuable when shared

Driving down the cost of genetic information will increase its personal and clinical utility

Healthcare professionals are fundamental in ordering and interpreting genetic information

People should own and control their own genetic information


Near term focus on symptomatic disease

Simple ordering based on disease indication

multiple disease panels multiple disorders

multiple genes

One Laboratory Process


Where genetic testing is going – rapidly

Unknown

Limited

Low Uncertainty around probability of specific diagnosis

High

Locu

s he

tero

gene

ity

Exomes/Genomes

Large gene panels

Small gene panels

Single Gene Testing

Variant testing


screening

Unknown

Limited

High Prior probability of specific diagnosis

Low

Locu

s he

tero

gene

ity

Exomes/Genomes

Large gene panels

Small gene panels

Single Gene Testing

Variant testing



Where genetic testing is going – rapidly diagnosis

screening

Unknown

Limited

High Prior probability of specific diagnosis

Low

Locu

s he

tero

gene

ity

Exomes/Genomes

Large gene panels

Small gene panels

Single Gene Testing

Variant testing



Today, different diseases are tested or screened at different

points, at different prices

Exomes/Genomes

Large gene panels

Small gene panels

Single Gene Testing

Variant testing



Soon, this ceases to be a clinical laboratory game and

turns into an information game

Exomes/Genomes

Large gene panels

Small gene panels

Single Gene Testing

Variant testing


The bottleneck moves toward interpretation

Sample Preparation Sequencing Medical Interpretation

costs will decline over time costs go up with the number of genes


The current market for genetic testing: ~$3-5B

Cancer

Cardio

Neuro

Peds

Etc..

Who gets tested is important for the approach


Accessibility is a major issue

Patients currently getting tested ($3-5 billion market today)

Between 1-2 billion people in the modern healthcare system




Patients who have or are directly affected by an inherited disease






People who could benefit from testing to rule out inherited disease for similar symptoms or are family members of affected individuals






People who could benefit from testing to rule out inherited disease for similar symptoms or are family members of affected individuals

Otherwise healthy individuals



Who pays matters – a lot

Patient Pay §  Simple transaction §  Cash up front §  Very limited pre-

testing overhead

Cost of billing services

Institutional §  Simple billing terms §  Some contracting

involved §  Some collections activity

required §  Depending on institution,

there may be some pre-testing evaluation and triage

Insurance §  Patient meets criteria §  Pre-authorization §  Claims and appeals are costly §  Co-pays depending on plan/

provider §  Benefits investigation §  In criteria evaluation §  Pre authorization §  Billing/Collections §  Appeals




testing overhead









As in any other market, pricing will reflect this


Patient pay $475

Payor in network or institutional contract

$950

Payor out of network $1,500


The merging of worlds – i.e. family history


Expand genome content

Improve customer

experience

Drive traffic

Attract partners

Growth

Lower costs

Lower prices

The coming industrialization of the space

transforming the practice of medicinelsi-dev.sites.olt.ubc.ca/files/2015/06/sean-george.pdf ·...

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