Bioinformatics in IVD Testing

June 2013 | 198 pages | ID: B43AC0A3CC2EN
Kalorama Information

Abstracts

Computer diagnostics could offer opportunity for clinical laboratory professionals to add value to clinicians in diagnosing diseases. IT companies in collaboration with test vendors are developing computer software that complements the skills of human test interpretation.

This report, Bioinformatics in IVD Testing looks at the various IVD market segments where bionformatics is expected to have the most impact.

Bioinformatics-based testing has made a huge contribution to cancer diagnosis and therapy management. In infectious disease diagnostics it allows the detection of difficult to culture pathogenic bacteria or viruses and to uncover the epidemiology of infections. The bioinformatic analysis of mutations of known human genes is used to diagnose common disorders, inherited diseases, or different types of cancer and can indicate the prognosis of malignant diseases.

What developments are driving this trend? What are labs and providers doing to incorporate these products into practice? And how are payors and regulators reacting? Who is partnering with who to deliver a solid combination product? This report delves into these issues and provides an excellent round-up of the current status of bioinformatics in the IVD industry.

As part of its coverage, the report provides information on the following developments:

• Selected Diagnostic Tests That Incorporate Bioinformatics
• Selected Multiplexed Tissue-Based Cancer Tests
• Selected Histology Analyses Software Tools
• Selected Blood-Based Cancer Biomarker Tests That Use Software Analysis Tools
• Selected Chronic Diseases Tests With Integrated Bioinformatics
• Selected Innovations in Bioinformatic-Based Tests For Psychiatric Disorders
• Selected Systems For Bioinformatics-Based Infectious Disease Testing
• Selected Next Generation Sequencing Platforms

The report discusses tests and technologies that are currently available and those that are expected to take their place. Generally, current products and technologies establish the standard of care and its value to payers. Many of the assays and techniques presented in the report are expected to replace the standard of care in 2013, but with healthcare systems' emphasis on cost/benefit analysis for new technologies adoption, the market value and thus penetration capabilities of newer approaches may be limited.

The report looks at the bioinformatics-based product offerings and developments of the following companies, among others:

• Abbott
• Cannon
• RocheAffymetrix Inc.
• AssureRx Health, Inc.
• Bio-Reference Laboratories, Inc. (BRLI)
• Dako A/S
• Siemens
• Thermo Fisher
• Medtronic Inc.
• PerkinElmer, Inc.
• Prometheus Labs
• QIAGEN N.V.
• Quest

Contents

CHAPTER ONE: EXECUTIVE SUMMARY

Introduction
Scope and Methodology
Market Trends
IVD Markets Most Affected by Bioinformatics
Advances in Lab Medicine

CHAPTER TWO: INTRODUCTION

Background
Bioinformatics-based Diagnostics
The Case for Bioinformatics

CHAPTER THREE: ENABLING TECHNOLOGIES AND COMMERCIALIZATION ARRANGEMENTS

Alliances and Collaborations
Major Partnerships
Advances in Clinical Bioinformatics
Reimbursement-Driven Health Data Analytics
Insurers, PBMs and Providers
The Interface and Test Technologies
Bioinformatics for Consumers

CHAPTER FOUR: MARKET ANALYSIS – BIOINFORMATICS-BASED DIAGNOSTICS

Background
The Commercial Outlook
Trends In Bioinformatics-Based Tests For Cancer
Technologies
Tissue-based Tests
Blood-Based Tests
Market-cleared Tests
Trends in Bioinformatics-based Tests for Diabetes
Trends in Bioinformatics-based Tests for Cardiovascular Disease
Trends in Bioinformatics-based Tests for Chronic Diseases
Arthritis
Gastrointestinal Conditions
Alzheimer’s Disease
Parkinson’s Disease
Psychiatric Disorders
Trends In Bioinformatics-Based Tests In Microbiology
Software Applications
Genome Sequencing
Mass Spectrometry
Trends in Bioinformatics-based Diagnostics for Prenatal Studies
The Commercial Outlook

CHAPTER FIVE: CONCLUSION

CHAPTER SIX: IVD COMPANIES AND BIOINFORMATIC-BASED OFFERINGS

23andMe
Affymetrix Inc.
Ameritox Ltd.
Aperio Technologies, Inc.
ArcticDx Inc.
Arrayit Diagnostics Inc.
AssureRx Health, Inc.
Atossa Genetics, Inc.
BG Medicine, Inc.
Biodesix, Inc.
BioImagene
Bio-Reference Laboratories, Inc. (BRLI)
bioTheranostics
Breath Testing at Home
CardioDx, Inc.
Children’s Hospital of Philadelphia:
Chronix Biomedical Inc.
CombiMatrix Molecular Diagnostics, Inc.
Complete Genomics
Crescendo Bioscience, Inc.
Dako A/S
deCode genetics ehf
Diaxonhit Group
DiaGenic ASA
DiaTech Oncology
Duke University Medical Center
Everist Genomics, Inc. (EGI)
Foundation Medicine. Inc
Genelex Corporation
Genomic Health, Inc.
Health Discovery Corporation (HDC)
Inform Genomics
Lab21 Limited
Life Technologies
Massachusetts Institute of Technology
Mayo Medical Laboratories
Medtronic Inc.
Metabolon Inc.
Omnyx, LLC
One Lambda, Inc.
Oregon Health & Science University (OHSU)
Pathogenica
Pathway Genomics
PerkinElmer, Inc.
PGXL Laboratories
Prometheus Laboratories Inc.
Qiagen N.V
Ridom GmbH
Selventa
Signal Genetics
Tethys Bioscience Inc.
Stanford University
University of Houston
XDx Inc. – Expression Diagnostics

CHAPTER SEVEN: COMPANY PROFILES: INFORMATION TECHNOLOGY SPECIALISTS

Access Genetics
BioDiscovery, Inc.
CLC bio
CollabRx, Inc. (formerly Tegal Corp)
Definiens
eGenomics
GeneInsight LLC
GenomeQuest Inc.
IBM Corporation
Ingenuity Systems
Knome Inc.
NSilico
Personalis
Signature Mapping Medical Sciences, Inc.
Silicon Valley Biosystems (SV Bio)

List Of Exhibits

LIST OF EXHIBITS

CHAPTER ONE: EXECUTIVE SUMMARY

Table 1-1: Selected Salient Developments For Now And The Future
Table 1-1: IVD Segments Potentially Most Affected By Bioinformatics-Based Tests

CHAPTER TWO: ENABLING TECHNOLOGIES AND COMMERCIALIZATION ARRANGEMENTS

Table 3-1: Selected Collaborations For Bioinformatics-Based Diagnostics
Table 3-2: Selected Open-Source Variant Annotation Software
Table 3-3: Selected Information Technology Innovations In Clinical Diagnostics

CHAPTER THREE: MARKET ANALYSIS – BIOINFORMATICS-BASED DIAGNOSTICS

Table 4-1: Selected Diagnostic Tests That Incorporate Bioinformatics
Table 4-2: Selected Multiplexed Tissue-Based Cancer Tests
Table 4-3: Selected Histology Analyses Software Tools
Table 4-4: Selected Blood-Based Cancer Biomarker Tests That Use Software Analysis Tools
Table 4-5: Selected Innovations In Bioinformatic-Based Tests For CVD
Table 4-6: Selected Chronic Diseases Tests With Integrated Bioinformatics
Table 4-7: Selected Innovations In Bioinformatic-Based Tests For Psychiatric Disorders
Table 4-8: Selected Systems For Bioinformatics-Based Infectious Disease Testing
Table 4-9: Selected Next Generation Sequencing Platforms
Table 4-10: Ivd Segments Potentially Most Affected By Bioinformatics-Based Tests

About

IDBS (Guilford, UK) has developed the Biomolecular Hub that enables allrelevant data and annotations for a particular gene or protein to be quickly and easilyfound regardless of data format. The Biomolecular Hub provides bioinformaticsorganizations with a unique data and result management capability that can easilyintegrate with existing tools and analysis environments. It indexes metadata from alltypes of molecular output files, including NGS, gene expression, arrayCGH, GenomeWide Association Study (GWAS) and proteomics, to provide a managed file store withunique security, audit and search capabilities. Genomic variant and analysis results arestored and associated with their source files to ensure traceability and reproducibility ofresults.

January 2013, Weill Cornell Medical College and New York-PresbyterianHospital have created the Institute for Precision Medicine at Weill Cornell and NewYork-Presbyterian/Weill Cornell Medical Center. This new translational medicineresearch hub will explore the new frontier of precision medicine, offering optimaltargeted, individualized treatment based on each patient's genetic profile. The institute'snew genomic research discoveries will help develop novel, personalized medicaltherapies to be tested in innovative clinical trials, while also building a comprehensivebiobank to improve research and patient care.

Physician-scientists at the Institute aim to identify the genetic influencers of apatient's specific illness such as cancer, cardiovascular disease, neurodegenerative diseaseand others and use this genetic information to design a more-effective course of treatmentthat targets those specific contributing factors.

The Diagnostic Algorithms Subgroup will publish diagnostic algorithms forchallenging clinical scenarios to demonstrate the complexity of choosing the mostappropriate test(s) to support an accurate diagnosis and treatment. It will also developinformation technology tools using decision support algorithms to help clinicians chooseappropriate tests and improve patient outcomes.