Predictive Breast Cancer Gene Testing

Transcription

1 Predictive Breast Cancer Gene Testing XX US Analysis and Market Forecasts XX XXX / Published XXX GDME1009CFR / Published February 2013

2 Executive Summary Predictive Breast Cancer Gene Testing: Key Metrics in US Market Asymptomatic breast cancer mutation carriers in female population 2,356,912 Breast cancer incidence cases (2011) 248,076 Familial breast cancer incidence cases (2011) 66, Market Sales Pipeline Assessment $344m Number of development devices (tests) 2 Number of pre-clinical devices (tests) 1 Number of clinical devices (tests) 4 Predictive breast cancer gene tests 25% Diagnostic breast cancer gene tests 75% Key events ( ) Expiry of BRACAnalysis patents and licenses during Introduction of Myriad RAD51C Gene Test Introduction of Myriad HRD Introduction of BreastGeneDX (approval by US FDA) Introduction of NanoIVD Breast Cancer Test Introduction of 23AndMe Exome 80X Introduction of EpiSwitch OBD27 Introduction of PAM Market Sales Source: GlobalData Level of Impact $681m The predictive breast cancer gene testing market is forecast to have significant growth from 2011 to GlobalData estimates that the US market in 2011 was $344m, and it is expected to grow at a compound annual growth rate (CAGR) of 9.8% to reach $681m by The key drivers for predictive breast cancer gene testing are: Reductions in the cost of treating breast cancer Increased access to breast cancer gene tests Increased awareness of breast cancer gene tests The major barriers for predictive breast cancer gene testing are: Exhaustion of test candidate population Reimbursement of genetic tests Lack of standardization in genetic tests Increasing complexity of breast cancer gene test results Shortage of trained professionals Development of new breast cancer treatments, reducing the life-impact of breast cancer Page 2 GDME1009CFR / Published FEB 2013

3 Executive Summary Market Domination by Myriad Genetics The major feature of the US predictive breast cancer (BRCA) gene testing market is the domination of tests carried out by Myriad Genetics. Myriad Genetics has exclusivity in the US to provide testing for the most commonly occurring breast cancer gene mutations, BRCA1/2. Myriad Genetics currently only offers a single breast cancer gene test product, BRACAnalysis, which accounted for $340m of all gene test revenue in 2011 in the US. Significant Unmet Needs For the most important test, the BRCA gene test, posttest analyses, which includes genetic counseling; test efficacy; and ease of understanding the test, or test transparency were all considered to be important attributes. The price, or cost, of a test remained a significant unmet need, even though key opinion leaders recognized that genetic testing is a very expensive technique. Test turnaround times were also judged by prescribing physicians to be too long. The rate of, or lack of, reimbursement was felt to be an enduring problem. Adoption of new technologies, most notably nextgeneration DNA sequencing, will drive down both costs and turnaround time. Wider adoption of panel gene tests, where several different mutations are simultaneously tested for, for a similar price to an existing single mutation test, will also reduce the total amount of investigatory time, providing for a faster determination of an inherited mutation. Looking further ahead, the adoption of complete genome or exome sequencing will cause the gene testing market to move from many tests carried out on an individual, and many analyses, to one where a single test genome sequence is carried out, followed by many in-silico analyses spread out over an individual s lifetime. The following table illustrates the most important features of a predictive BRCA breast cancer gene test, alongside key unmet needs. Assessment of BRCA Breast Cancer Gene Test Features (n=25) Most Desirable Features Features Most Satisfied With (Met Needs) Features Least Satisfied With (Unmet Needs) Efficacy Post-test analysis Cost of the test Efficacy Test data security Test carried out in own country Range of tests available Help identifying treatment options Rate of reimbursement Source: GlobalData, Primary research survey of Medical Oncologists in US. Remaining Opportunities for New Entrants Inside the largest predictive breast cancer gene testing market, the United States, opportunities for new entrants are restricted to non-brca testing, which, as it constitutes only around 1% of the current US gene testing market, means that opportunities are limited. During , the most important patents and licenses relating to Myriad Genetics BRACAnalysis gene test will expire, which will open up new opportunities for gene testing companies in the US to compete. GlobalData does not expect a wholesale switching by physicians from Myriad Genetics to a new competitor, but does expect that competitors may offer panel tests that will include some or all of the same or similar BRCA1/2 analyses currently offered by Myriad Genetics, and this may be seen as more cost effective by prescribing physicians. Page 3 GDME1009CFR / Published FEB 2013

4 Executive Summary Future Landscape GlobalData expects the size of the market for predictive breast cancer gene testing to continue to grow, as access to gene testing improves. GlobalData expects that Myriad Genetics market share will be eroded after GlobalData believes that new entrants to the US market will face considerable challenges in persuading physicians to choose them as a test provider. New entrants will need to provide evidence of succeeding in meeting the soft requirements of physicians: reputation, trust, transparency, and clinical know-how (advice). Some of these aspects cannot be established quickly, and take time to establish. Page 4 GDME1009CFR / Published FEB 2013

5 Executive Summary What do Physicians Think? Physicians feel strongly that Myriad Genetics should share clinical data with the medical community. Myriad stopped contributing to the public mutation database many years ago, that s now their proprietary [archive of] information that they have, and no one can compete with it. And that I think is going to be a big challenge; there s been some effort in the States and I d like to say, internationally, as well, to have people have healthcare providers submit mutations and variants identified on Myriad reports along with what Myriad called it, so there may be some work-arounds, but unless everybody does it consistently, Myriad will still have that, you know, kind of ball in their court to hang over people. Key Opinion Leader, November 2012 Physicians feel that single nucleotide polymorphism (SNP) gene testing has a limited future. I think it s going to go away. I don t think that this industry SNP testing is already becoming passé with advent of whole exome sequencing so I m not too worried about it, because I think that in the next couple of years I wouldn t invest my money in it. Key Opinion Leader, November 2012 Physicians feel strongly that breast cancer gene testing is most useful in the prevention of breast cancer, rather than as an aid to treating cancer. I think it has been far more, far more useful in the prevention of cancer. It has limited application in actual treatment except in the context of future prevention; in other words there are certainly women who choose bilateral mastectomy, or breast-conserving therapies, which have otherwise been a reasonable option. But again, when they are found to be positive, then that s really a preventive type of approach. So, I feel it s very much a preventive modality. Key Opinion Leader, December 2012 Physicians feel they must be allowed to choose the best gene test for their patients. I simply don t like to be told that I have to send it to a particular lab. Key Opinion Leader, December 2012 Physicians feel medical need should determine which gene test they should use. A lot of the decisions about testing are not really being driven by, you know, medical advice, but they are really being driven by, on the one hand, you know the marketing of Myriad, that is the only option I have for doing BRCA testing; and their ability to lobby with insurance companies to get coverage for some folks, and then, you know, people who are uninsured or who don t have good insurance, and who are really appropriate candidates for genetic testing but can t afford to get it. Key Opinion Leader, November 2012 Page 5 GDME1009CFR / Published FEB 2013

6 Executive Summary Physicians like panel gene tests, because of the cost effectiveness. We are now considering next-gen testing, panel testing through Ambry [Genetics] which is turning out to be more cost effective than doing individual testing for genes like p53 or CHEK2 or whatever, so they have a BreastNext panel that focuses on, I think, more than a dozen genes associated with hereditary breast cancer, they have a broader panel and that s what we are leaning towards now. And the price points are going to make it very feasible for us to do that, I think. Key Opinion Leader, November 2012 Physicians feel there is merit in screening populations or sub-populations for specific and clear breast cancer mutations. I think that now we have the potential to do it, screening for BRCA1 and 2 mutations could make a lot of sense, in fact I have advocated that in certain forums, and it looks like we actually have a grant that could get funded, that will look at some of those issues. The place to look for its viability in the early data is I think Israel, because of course there are 3.5% of women who carry these mutations and there are a variety of details you have to work out. I would say very loudly if you are going to do something like that you need to be very selective about what you call a mutation, you don t want to go reporting out VUSs [variants of uncertain significance], because the probable likelihood of actually being pathogenic in a population setting is very low, and you can t afford those false positives, so what you need to do is you would set the bar very high and you only report out clearly deleterious mutations. Key Opinion Leader, December 2012 Page 6 GDME1009CFR / Published FEB 2013

7 Table of Contents 1 Table of Contents 1 Table of Contents List of Tables List of Figures Introduction Catalyst Upcoming Related Reports Disease Overview Breast Cancer Anatomy and Physiology Pathophysiology Inheritable High-Penetrance Gene Mutations Inheritable Medium/Low-Penetrance Gene Mutations Clinical Presentation Family History Physical Examination Predictive Breast Cancer Gene Testing Overview Clinical Guidelines Follow-up Gene Testing Clinical Outcomes Treatment Options Treatment Paradigm Epidemiology Prevalence Economic Impact Individual Costs Industry Costs Competitive Assessment Page 7 GDME1009CFR / Published FEB 2013

8 Table of Contents 4.1 Overview BRACAnalysis BreastNext BreastCancer PreventionGenetics CHEK2/BARD1 Sequencing AndMe DNA Spit Kit DeCodeMe Complete Scan Health Compass Unmet Needs Efficacy of the BRACAnalysis Test Interpretation of Results Test Report Formats Price Data Security Genetic Counseling Database Transparency Test Validation Undiscovered Mutations Simplification of the Testing Process Pipeline Products Predictive Breast Cancer Gene Tests in Development Myriad Genetics RAD51C Breast Cancer Gene Test AndMe Exome 80X Breast Cancer Gene Expression Tests BreastGeneDX Diagnostic Test - Breast Cancer (Queens University/Almac Diagnostics) Diagnostic Test - Breast Cancer (NanoIVD) EpiSwitch OBD Page 8 GDME1009CFR / Published FEB 2013

9 Table of Contents Myriad HRD Test PAM50 Breast Cancer Test Emerging Sequencing Technology New Gene Discovery Industry Overview Breast Cancer Testing Trends Overview Gene Test Analysis Gene-Testing Hardware Laboratory-Developed Tests Testing Volumes Market Access Adoption of Breast Cancer Gene Testing Role of Genetic Counseling Gene Testing Laboratories Reimbursement Trends Regulatory Issues/Recalls Mergers & Acquisitions and Key Partnerships Current and Future Players Overview Trends in Corporate Strategy Common Strengths, Weaknesses, Opportunities and Threats Growing Incidence of Breast Cancer Uncertain R&D Outcomes Stringent Government Regulations Company Profiles Myriad Genetics Ambry Genetics Page 9 GDME1009CFR / Published FEB 2013

10 Table of Contents Complete Genomics Navigenics (now Life Technologies) PreventionGenetics AndMe BGI-Shenzhen Illumina Life Technologies Roche Market Drivers, Opportunities and Barriers Market Drivers Reducing the Cost of Breast Cancer Care Growing Number of Tests for Breast Cancer Gene Tests Increased Awareness of Breast Cancer Gene Testing from Physicians and Patients Opportunities New Assays and New Sequencing Technologies Alternative Methods to Predict Breast Cancer Risk Population-Based Genomic Profiling Market Barriers Exhaustion of Test Candidates Demographics Reimbursement Lack of Standardization Complexity of Test Results Shortage of Trained Personnel Development of New Breast Cancer Treatments Substitutes Improved Risk Assessment Models Development of Tests Based on Gene Expression Products Page 10 GDME1009CFR / Published FEB 2013

11 Table of Contents Increased Surveillance Development of Biomarker Assays US Outlook and Forecasts Market Overview US Market Analysis Appendix Bibliography Abbreviations Research Methodology Overview Coverage Secondary Research Forecast Methodology Physicians and Specialists Included in this Study Primary Research Physician Survey About the Authors Analysts Global Head of Healthcare Definitions About MediPoint About GlobalData Contact Us Disclaimer Page 11 GDME1009CFR / Published FEB 2013

12 Table of Contents 1.1 List of Tables Table 1: Main Breast Cancer Types Table 2: Specific Cancer Types Associated with Inherited Disorders Table 3: BRCA1/2 Mutation Occurrence by Ethnic Group Table 4: BRCA1/2 Mutation Occurrence in Breast Cancer Cases by Ethnic Group Table 5: Breast Cancer Risk Factors Table 6: Patterns in Prescribing Relatives for Breast Cancer Gene Test (Numbers per Physician) Including Expected Uptake (n=25) Table 7: Breast Cancer Chemotherapies Table 8: Cancer Cell Grading Table 9: Selected 2002 Breast Cancer Incidence Rates Table 10: BRACAnalysis Product Profile Table 11: BRACAnalysis SWOT Analysis Table 12: BreastNext Product Profile Table 13: BreastNext SWOT Analysis Table 14: BreastCancer Product Profile Table 15: BreastCancer SWOT Analysis Table 16: PreventionGenetics Product Profile Table 17: PreventionGenetics SWOT Analysis Table 18: 23AndMe Spit Kit Product Profile Table 19: 23AndMe Spit Kit SWOT Analysis Table 20: Complete Scan Product Profile Table 21: Complete Scan SWOT Analysis Table 22: Health Compass Product Profile Table 23: Health Compass SWOT Analysis Table 24: Predictive Breast Cancer Gene Test Product Pipeline Table 25: Myriad Genetics RAD51C Breast Cancer Gene Test SWOT Analysis Table 26: 23AndMe Exome 80X SWOT Analysis Table 27: Breast Cancer Gene Expression Product Pipeline Page 12 GDME1009CFR / Published FEB 2013

13 Table of Contents Table 28: BreastDX SWOT Analysis Table 29: Diagnostic Test - Breast Cancer (Queens University/Almac Diagnostics) SWOT Analysis Table 30: NanoIVD Diagnostic Test - Breast Cancer SWOT Analysis Table 31: EpiSwitch OBD27 SWOT Analysis Table 32: Myriad HRD Test SWOT Analysis Table 33: NanoString PAM50 Breast Cancer Test SWOT Analysis Table 34: Key Mergers and Acquisitions during Table 35: Myriad Genetics SWOT Analysis Table 36: Myriad Genetics Product Portfolio Table 37: Myriad Genetics BRACAnalysis Key Patents Table 38: Ambry Genetics SWOT Analysis Table 39: Complete Genomics SWOT Analysis Table 40: Navigenics SWOT Analysis Table 41: PreventionGenetics SWOT Analysis Table 42: 23AndMe SWOT Analysis Table 43: BGI-Shenzhen SWOT Analysis Table 44: Illumina SWOT Analysis Table 45: Life Technologies SWOT Analysis Table 46: Roche SWOT Analysis Table 47: Skills Required for Breast Cancer Gene Testing Table 48: Major Events Affecting the US Predictive Breast Cancer Gene Test Market Table 49: Sales Forecasts for Predictive Breast Cancer Gene Testing in the US, Page 13 GDME1009CFR / Published FEB 2013

14 Table of Contents 1.2 List of Figures Figure 1: Breast Anatomy Figure 2: Incidence of Inherited Breast Cancer Mutations amongst Diagnosed Breast Cancer Patients Figure 3: BRCA1 and BRCA2 Gene Arrangement Figure 4: USPSTF Guidelines for Inherited Breast Cancer Gene Testing Figure 5: Wellcare Treatment Guidelines Figure 6: US Trends in Breast Cancer Incidence, Figure 7: Breast Cancer Risk Factors Figure 8: BRACAnalysis Product Family (2012) Figure 9: BRACAnalysis, Number of Tests, Figure 10: BreastNext Mutation Detection Frequency Figure 11: Average Selling Price of Breast Cancer Gene Tests (November 2012) Figure 12: Growth in 23AndMe Gene Testing, Figure 13: US Concerns on Breast Cancer Gene Testing (n=25) Figure 14: Genomic Sequencing Costs, Figure 15: Growth in Gene Testing Capability in the US Figure 16: DTP and DTC Gene Tests offered by CLIA-Accredited Laboratories, Figure 17: Estimated Number of BRCA Tests Conducted Annually in the US, Figure 18: Cumulative Numbers of BRCA Gene Tests in the US, Figure 19: Numbers of Patient Relatives Recommended for Breast Cancer Gene Testing Following a Positive Result, n= Figure 20: Reasons to Refuse a Breast Cancer Gene Test, n= Figure 21: Myriad Genetics Revenue and Profit, Figure 22: BRCA Gene Testing by the UK Genetics Testing Network in Figure 23: Visual Representation of Hereditary Breast Cancer Genes (Ambry Genetics) Figure 24: Estimated growth in 23AndMe Revenue, Figure 25: Illumina Revenue and Profit, Figure 26: Life Technologies Revenue and Profit, Page 14 GDME1009CFR / Published FEB 2013

15 Table of Contents Figure 27: Roche Revenue and Profit, Figure 28: Growth in Patient-Demanded Breast Cancer Gene Tests, n=25, Figure 29: Breast Cancer Occurrence Following a Gene Test, n= Figure 30: Breast Cancer Incidence and Mortality in England, Figure 31: Sales Forecasts for Predictive Breast Cancer Gene Testing in the US, Figure 32: US Segmentation for Gene Tests, by Type, 2011 and Page 15 GDME1009CFR / Published FEB 2013

16 Introduction 2 Introduction Breast cancer (BRCA) is the most common form of cancer in women in both the developed and developing world, but is a rare occurring disease in men. The incidence of breast cancer is increasing due to the increased lifespan and increasing adoption of western lifestyle risk factors. Improved surveillance in developing countries has allowed the identification of more women with breast cancer in these regions. Early diagnosis of breast cancer is essential for a good prognosis, making diagnosis a cornerstone of breast cancer control. Predictive gene testing can identify women who are at heightened risk of developing breast cancer due to hereditary gene factors. This report focuses on the predictive breast cancer gene testing markets in the US and identifies unmet needs in the market, physician attitudes towards current gene testing, and the future of gene testing in the face of rapid technological advancement. 2.1 Catalyst Breast cancer gene testing is an emerging and complex industry, posing a number of economic, technical, sociological and political issues. Breast cancer gene testing can provide a powerful means to predict the likelihood or identify risk factors that may cause the onset of disease. Thanks to improvements in techniques, and dramatically reduced costs, gene testing for the purposes of predicting the onset or likelihood of breast cancer is set to rapidly expand. This report will look at the physiological basis of breast cancer, and current treatments, in order to illustrate the impact on patients (principally women) of not being able to access affordable and effective predictive gene testing. As this is still an emerging industry, the report will examine the current understanding of inherited breast cancer, the technological challenges and the emerging regulatory landscape specific to these types of tests. Page 16 GDME1009CFR / Published FEB 2013

17 Appendix 11.9 About MediPoint MediPoint is the flagship product for GlobalData s Medical team. Each MediPoint report is built from the ground-up by our team of healthcare analysts in the US and UK. Each report includes input from experienced physicians and leading Key Opinion Leaders (KOL). Running throughout each report in the series, What Physicians Think quotes provide a unique insight into how healthcare professionals are reacting to events within the industry, and what their responses could mean for industry strategists About GlobalData GlobalData is a leading global provider of business intelligence in the Healthcare industry. GlobalData provides its clients with up-to-date information and analysis on the latest developments in drug research, disease analysis, and clinical research and development. Our integrated business intelligence solutions include a range of interactive online databases, analytical tools, reports and forecasts. Our analysis is supported by a 24/7 client support and analyst team. GlobalData has offices in New York, Boston, London, India and Singapore. Page 238 GDME1009CFR / Published FEB 2013

18 Appendix Disclaimer All Rights Reserved. No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form by any means, electronic, mechanical, photocopying, recording or otherwise without the prior permission of the publisher, GlobalData. Page 239 GDME1009CFR / Published FEB 2013