Expert Intelligence for Better Decisions. Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies

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1 Expert Intelligence for Better Decisions Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies

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4 Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies Published in December 2014 by Cambridge Healthtech Institute iii

5 Insight Pharma Reports is a division of Cambridge Healthtech Institute, a world leader in life science information and analysis through conferences, research reports, and targeted publications. Insight Pharma Reports focus on pharmaceutical R&D the technologies, the companies, the markets, and the strategic business impacts. They regularly feature interviews with key opinion leaders; surveys of the activities, views, and plans of individuals in industry and nonprofit research; and substantive assessments of technologies and markets. Managers at the top 50 pharma companies, the top 100 biopharma companies, and the top 50 vendors of tools and services rely on Insight Pharma Reports as a trusted source of balanced and timely information. Publisher: Science Writer: Design Director: Production Director: Customer Service: Corporate Subscriptions: Lisa Scimemi , lscimemi@healthtech.com Chelsea Macary , cmacary@healthtech.com Thomas Norton , tnorton@healthtech.com Ann Marie Handy , ahandy@healthtech.com Rose LaRaia , rlaraia@healthtech.com David Cunningham , cunningham@healthtech.com iv

6 Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies For more information about published Insight Pharma Reports, visit or call Rose LaRaia at A Cambridge Healthtech Institute publication 2014 by Cambridge Healthtech Institute (CHI). This report cannot be duplicated without prior written permission from CHI. Every effort is made to ensure the accuracy of the information presented in Insight Pharma Reports. Much of this information comes from public sources or directly from company representatives. We do not assume any liability for the accuracy or completeness of this information or for the opinions presented. Cambridge Healthtech Institute, 250 First Avenue, Suite 300, Needham, MA Phone: n Fax: n v

7 Executive Summary Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies Executive Summary Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies covers market research, relevant disease background, and a number of rising technologies available to physicians and clinicians. This report has been divided into five parts. The first part of this report will focus on market growth and molecular diagnostic interest (Chapter 2). This chapter will discuss a brief overview of the growth of molecular diagnostics in several areas of cancer as well as prenatal diagnostics. These areas will be further discussed in later sections. Part II focuses on cancer diagnostics, covering lung, breast, thyroid and blood cancers. These sections will include background information on all four types of cancers including risk, incidence, symptoms, early detection, and even targets under investigation. Information on a variety of companies working in the related cancer spaces and exclusive interviews with CEOs, Presidents, and Founders are also included. The companies that are featured include GeneCentric, which has two platforms available for breast and lung cancer; Veracyte, which has a platform for screening thyroid nodules found indeterminate by flow cytometry; and Adaptive Biotechnologies, which has a platform specifically for monitoring minimal residual disease (MRD) in blood cancers. Although these companies focus on different cancer-types, it is interesting to see the approach they are taking to meet market needs and tackle various diseases. Part III of the report will focus on the prenatal aspect, covering background information and the growth of prenatal diagnostics. There are a variety of growing technologies and companies in this space. As far as genetic information is concerned, GenePeeks has a platform used for creating hypothetical genomes. This technology creates a portfolio of genomic combinations for clients and potential donors, screening for a number of genetic defects that could be present in these hypothetical children. Also included in this section is information on sequence-based cell-free DNA testing and fetal cell isolation. These are two noninvasive strategies currently on the rise to alleviate the need for invasive testing (either amniocentesis or chorionic villus sampling). A company featured in this section is Verinata, which uses sequence-based cell-free DNA testing, a screening method that is currently recommended by the American College of Obstetricians and Gynecologists (ACOG). The fourth part of this report will focus on survey results. Illustrated with several charts and graphs, this section will cover a number of techniques in development and challenges faced by the research and development community. Finally, the fifth and final part is a complimentary company directory, featuring companies that are both mentioned and not mentioned in this report. This section gives insight to product development, clinical status, challenges, and competitive advantages. vi

8 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market Table of Executive Summary vi PART I: Introduction and Market Background 1 CHAPTER 1 The Focus of This Report 2 CHAPTER 2: Market Trends and Adaptability 3 Lung cancer diagnostics market growth 4 Breast cancer diagnostics market growth 5 Thyroid cancer diagnostics market growth 6 Blood cancer diagnostics market growth 7 Prenatal diagnostics market growth 8 PART II: Cancer Diagnostics 9 CHAPTER 3: Lung Cancer 10 Types of lung cancer 10 Risk factors 10 Incidence 11 Symptoms and early detection 11 Targeted therapies 12 vii

9 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market CHAPTER 4: Breast Cancer 14 Types of breast cancer 14 Risk factors 14 Incidence 15 Symptoms and early detection 15 Treatments for breast cancer 16 CHAPTER 5: GeneCentric 18 Company background 18 Lung Subtype Platform (LSP TM ) 18 Hypoxia Signature Platform 19 GeneCentric outlook 21 Interview with Myla Lai-Goldman 22 Company background 22 Platforms 22 Lung Subtype Platform (LSP TM ): 22 Hypoxia Signature platform: 23 Future outlook 23 CHAPTER 6: Thyroid Cancer 24 Types 24 Risk 27 Symptoms and early detection 27 Therapeutic options 27 CHAPTER 7: Veracyte 28 viii

10 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market Company background 28 Afirma Thyroid FNA Analysis 28 Validation 29 Competitive advantage 29 Future growth plans 30 Interview with Bonnie Anderson 32 Company background 32 Afirma Thyroid FNA Analysis 32 Competitive advantage 34 Challenges encountered 35 Future improvements 35 CHAPTER 8: Blood-Based Cancers 37 Leukemia 37 Types 37 Risk factors, symptoms and early detection 38 Therapeutic options 38 Lymphoma 38 Types 38 Classic Hodgkin disease 39 Nodular lymphocyte predominant Hodgkin disease 40 Non-Hodgkin lymphoma 40 Risk factors 41 Symptoms and therapeutic options 41 CHAPTER 9: Adaptive Biotechnologies Corporation 42 Company background 42 ClonoSEQ 42 ix

11 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market Validation 43 Areas of improvement 44 Competitive advantage 44 Future endeavors 44 Interview with Chad Robins 46 Company background 46 ClonoSEQ 46 Areas of improvement 48 Challenges encountered 48 Competitive advantage 48 Future endeavors 49 PART III: Genetic Information and Prenatal Diagnostics 50 CHAPTER 10: Genetic Information and Prenatal Testing 51 Genetic information 51 Prenatal testing 51 Sequence-based cell-free DNA testing 51 Fetal cell isolation 52 CHAPTER 11: GenePeeks 53 Company background 53 Patented technology 53 How does the process work? 53 Validation 54 Accuracy and sensitivity 54 Areas of improvement 54 x

12 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market Competitive advantage 55 Future applications 55 Interview with Anne Morriss 57 Company background 57 Patented technology 57 Competitive advantage 59 Areas of improvement and future outlook 59 CHAPTER 12: Verinata 61 Company background 61 The verifi prenatal test 61 Clinical validation and reimbursement 64 Customer feedback 64 CHAPTER 13: Testing Specifications 66 PART IV: Survey Demographics 71 CHAPTER 14: Survey Results 72 Survey demographics 72 Areas of study 73 Rising technologies 74 Challenges encountered 76 xi

13 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market PART V: Company Directory 77 References 98 About Cambridge Healthtech Institute 103 xii

14 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market FIGURES Figure 2.1: Growth in molecular diagnostics 3 Figure 2.2: Growth in lung cancer diagnostics 4 Figure 2.3: Growth in breast cancer diagnostics 5 Figure 2.4: Growth in thyroid cancer diagnostics 6 Figure 2.5: Growth in blood cancer diagnostics 7 Figure 2.6: Growth in prenatal diagnostics 8 Figure 3.1: Lung cancer deaths in men and women in the US 11 Figure 4.1: Breast cancer deaths in women in the US 15 Figure 14.1: Number of researchers working in molecular diagnostics 72 Figure 14.2: Survey demographics 73 Figure 14.3: Areas of study 73 Figure 14.4: Specific area of diagnostics 74 Figure 14.5: Technology status 74 Figure 14.6: Type of technologies in development 75 Figure 14.7: Technology basis 75 Figure 14.8: Targets of interest 76 Figure 14.9: Challenges encountered 76 Figure 15.1: Rank of Clients Purchasing Technologies from Selected Vendors 97 xiii

15 Table of Molecular Diagnostics: A Dynamic and Rapidly Broadening Market TABLES Table 3.1: Targets and their clinical status 12 Table 4.1: Targeted therapies for breast cancer 16 Table 5.1: Lung Subtype Platform and Hypoxia Signature Platform 20 Table 6.1: Thyroid cancer stages 25 Table 7.1: Afirma Thyroid FNA Analysis Platform 31 Table 8.1: Classic Hodgkin disease types and characteristics 39 Table 8.2: B-cell and T-cell non-hodgkin lymphomas 40 Table 9.1: clonoseq platform specifications 45 Table 11.1: Virtual Genome Platform 56 Table 12.1: verifi prenatal test performance for aneuploidies 63 Table 12.2: verifi prenatal test performance for sex chromosomes 63 Table 12.3: verifi prenatal test 65 xiv

16 Part I: Introduction and Market Background Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies PART I: Introduction and Market Background 1

17 The Focus of This Report Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies CHAPTER 1 The Focus of This Report The focus of this report is to show the growth of molecular diagnostic technologies in two areas: cancer and prenatal research. The first part of the report covers market background and interest in several areas of cancer including lung, breast, thyroid, and blood cancers (leukemia and lymphoma), as well as prenatal diagnostics. These areas are expanded upon in the following chapters. Cancer is one of the leading causes of death, and therefore a popular area of study for screening and diagnostic assays. Within these chapters a number of factors are covered, including incidence, risk factors, symptoms, early detection and therapeutic options. Several companies have participated in these sections, including GeneCentric, Veracyte, and Adaptive Biotechnologies. Each company representative gives insight into their technologies in development, competitive advantage, and validation techniques. Also included in these chapters are interviews with company representatives conducted specifically for this report. Another area of focus is in genetic information and prenatal diagnostics. Speaking to genetic information, one of the methods on the rise is predicting hypothetical fetal genomes for couples looking to conceive. Specifically highlighted in this space is GenePeeks. Historically, their technology has been used to match clients with optimal sperm donors to reduce the risk of rare, recessive diseases, but now GenePeeks has been developing that technology for couples looking to conceive. And exclusive interview with this company is available as well. Prenatal diagnostics is another area discussed, particularly the rise of noninvasive assays. A company highlighted in this section is Verinata Health, which uses sequence-based cell-free DNA testing to screen for chromosomal aneuploidies. By developing noninvasive technologies, clinicians and physicians can use less harmful invasive procedures (such as chorionic villus sampling and amniocentesis) to screen for these disorders, reducing the risk of miscarriage. Also included is survey data that was pulled from the various companies and researchers working in molecular diagnostics. This section covers specific areas of focus that are actively being worked on as well as competitive strategies and challenges encountered. Finally, the last part of the report is a company directory specifically created for this report. This section details over 10 companies, their areas of focus, and the status of their technologies. 2

18 Market Trends and Adaptability Molecular Diagnostics: An Insight to Rising Markets and Trends in Cancer and Prenatal Technologies CHAPTER 2: Market Trends and Adaptability Molecular diagnostics has been an increasingly growing industry since the mid 90s. This is depicted in Figure 2.1. Over the last few years, a handful of companies have been on the rise and particularly in several areas including lung, breast, thyroid and blood (leukemia and lymphoma) cancers as well as pre-conception genetic information and prenatal diagnostics. This section will show the growth of interest (based on PubMed articles) in the subjects that will be covered in this report. Figure 2.1: Growth of in Molecular molecular Diagnostics diagnostics Number of published articles Source: PubMed. limitations: (((molecular diagnostic[title/abstract]) OR diagnostic assay[title/abstract]) OR diagnostics[title/abstract]) OR assays[title/abstract] Article types: Clinical Trial, Clinical Trial, Phase I, Clinical Trial, Phase II, Clinical Trial, Phase III, Clinical Trial, Phase IV, Randomized Controlled Trial, Review, Systematic Reviews 0 Year 3