The Essentials of Diagnostics: Introduction to Molecular Diagnostics … · 2016-08-14 · Making...

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The Essentials of Diagnostics:

Introduction to Molecular Diagnostics

Webinar

July 9, 2013 12 Noon


DxInsights’ mission is

to educate healthcare

stakeholders on the

power and value of

diagnostics and their

impact on improving

patient outcomes and

reducing costs


DxInsights is an industry-wide educational organization connecting stakeholders to the best

diagnostic resources and to each other.

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AdvaMedDx is a diagnostics “association within an association” at

AdvaMed, representing about 70 global diagnostics manufacturers.

Vision

AdvaMedDx will be a world leader in advocating for the power of medical diagnostics to promote wellness, improve patient outcomes and advance public health.

Goals

• Create an understanding of the value of medical diagnostic tests. • Be a valued contributor to diagnostics and health care policy. • Ensure timely patient access to safe and effective diagnostic tests. • Modernize payment systems for diagnostic tests.

Advocacy & Public Affairs

Create a core group of policy makers who understand diagnostics and key policy needs.

Form and strengthen stakeholder alliances.

Develop policy and educational content; establish communications channels.

Expand global collaboration.

AdvaMedDx.org


The Essentials of Diagnostics: Introduction to Molecular Diagnostics DxInsights and AdvaMedDx Present:


Diagnostic tests are the foundation of a successful health care system,

providing critical information that healthcare providers and patients need to

make the right medical decisions.

Molecular diagnostics is a dynamic and transformative area of diagnostics,

leading to insights in research and treatment in many disease states that

are revolutionizing health care.

This report provides:

An overview of the current landscape for molecular diagnostics

Explains the key technologies that are driving the molecular revolution

Illustrates the power of molecular diagnostics with some specific

examples

Notes some challenges that have the potential to influence progress in

the future.

Introduction


Molecular In The News

Long-Term Reduction in Peripheral Blood HIV Type 1 Reservoirs Following

Reduced-Intensity Conditioning Allogeneic Stem Cell Transplantation

Continued clinical breakthroughs using molecular technologies

Thermo Fisher Scientific Acquires Life

Technologies in $13.6B Deal

Deals in molecular continue

Supreme Court Rule Isolated Human Genes

Cannot Be Patented

Long awaited legal decisions announced

My Medical Choice: A New York Times Op-Ed by Angelina Jolie

Celebrities Weigh In

Pfizer, Collaborators Developing

NanoString ALK Test as Lower-

Cost Alternative to FISH, IHC

Companion dx gets more interesting


Molecular diagnostics examine the molecules in the cell, i.e. the proteins, the RNA and

DNA and how they are operating within the system that we call human biology.

What Is Molecular Diagnostics?

Pathogen

RNA

Protein

DNA

Cancer Cells

Tissue

Source: DxInsights/AdvaMedDx


Molecular is a portion of the total global in vitro diagnostics market.

Molecular and the Global IVD Market

Source: Frost and Sullivan.

The global IVD market was $45.6B in 2012.

Total IVD market expected to grow at about

7%

Molecular market expected to grow at about

12%

Growth fueled by infectious disease and

oncology testing, and markets in new

geographies

Global In Vitro Diagnostics Market

Molecular

Rest of IVD


With its start as a classic life science tool, polymerase chain reaction (PCR) licenses and

products topped a billion dollars in the 2000s, and the transition to the core lab is just

beginning.

Molecular Technology Evolution


2010s 2000s 1990s 1980s

1985 Kary Mullis

invents PCR

1998 First PCR-based

tests for HIV viral loads available in labs

Note: Adapted from Health Advances AACC presentation 2011 Source: Washington G2 reports, Health Advances analysis, Roche company data.

2011+ High-volume

infectious disease tests on automated PCR-based platforms begin to enter core lab

1991 Roche acquires

PCR from Cetus

$0 clinical revenue

2007+ <$1B clinical

revenue from licenses and products

PCR Climb To Adoption


The Polymerase Chain Reaction (PCR) is one of many techniques used to isolate and

amplify a specific segment of DNA.

Molecular Technology Example


1 2 3

Amplification Cycles

Purified DNA Primers choose DNA segment of interest, PCR amplifies

sample in cycles


A person with cystic fibrosis has a deletion of three nucleotides in their genetic sequence,

which results in the deletion of an amino acid. This manifests in the classic CF symptoms.

Classic Molecular Diagnostics

Normal Person CFTR Sequence

Person with

Cystic Fibrosis

ΔF508 CFTR

Sequence

Ile

506

Phe

508

Val

510

Deleted in ΔF508

ATC ATC TTT GGT GTT

Ile Gly

Nucleotide:

Amino acid:

Ile

506

Val

ATC ATT GGT GTT

Ile Gly

Nucleotide:

Amino acid:


Genetic Comparison in Cystic Fibrosis


Diagnostics can help clinicians optimally manage patients through the continuum of care.

Comprehensive Role of Diagnostics


Description Diagnostic tests to complement traditional risk factors

Applied to high-risk patients to identify disease early

Used for definitive diagnosis and general typing

Assess severity and/or risk of recurrence

Inform adjuvant therapy decision

Used to predict efficacy or safety response to specific treatments

Recurrence monitoring

Monitoring for treatment efficacy

Clinical Implications

Implement wellness programs proactively

Nip disease in the bud with early treatment

Refer to the appropriate

specialist

Determine whether treatment is necessary

Do not waste unproductive therapy

Control disease progression with changes in treatment

Monitoring Therapy Selection

Staging and Prognosis

Diagnosis Screening Risk

Assessment


There are hundreds of examples of molecular diagnostics across this continuum.

Molecular Diagnostic Examples


Description Diagnostic tests to complement traditional risk factors

Applied to high-risk patients to identify disease early

Used for definitive diagnosis and general typing

Assess severity and/or risk of recurrence

Inform adjuvant treatment decision

Used to predict efficacy or safety response to specific treatments

Recurrence monitoring

Monitoring for treatment efficacy

Molecular Diagnostic Example

CF carrier testing

BRCA1 testing

MRSA

HPV

TB

CT/NG

OncoType Dx

MammaPrint

BRAF

KRAS

Her2

BCR-ABL

HIV viral load

Monitoring Therapy Selection

Staging and Prognosis

Diagnosis Screening Risk

Assessment


Companies playing in the molecular diagnostics space are varied; and collaboration and

M&A is vibrant.

Example Companies in Molecular Diagnostics

Note: Example companies only



The Future Of Molecular Diagnostics

Excitement about the future of this field must be tempered by recognition of the challenges

of continuing innovation and timely patient access.


What is the minimal clinical evidence needed for adoption and what

investment is required?

How do regulatory bodies stay current and develop rules that makes sense

for all stakeholders?

What can we patent and what can we not?

How do we capture, store and analyze the tremendous amount of

diagnostic data?

When will our evolving reimbursement system stop evolving?

How do we address the ethical and privacy issues around some of this

diagnostic data?

IP

Clinical Evidence

IT

Regulatory

Reimbursement

Ethical

Considerations


The Essentials of Diagnostics: Introduction to Molecular Diagnostics Read The Report


Q&A and For More Information

www.dxinsights.org

Kristin Pothier

Partner, Health Advances;

Founder, DxInsights

[email protected]

www.advameddx.org

Andrew Fish

Executive Director,

AdvaMedDx

[email protected]

http://www.dxinsights.org/

http://www.advameddx.org/

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