Description

Greater insight into the role of genetic variation is expected to profoundly change our understanding of human disease and the practice of medicine in the years to come. Genotyping¾the assignment of different variants in an otherwise conserved DNA region¾is used to ascertain the identification of susceptible genes in case/control populations. A single nucleotide polymorphism (SNP), a single base pair variation, is the most commonly occurring variation in DNA. Because of the ubiquity of SNPs, this particular type of variant represents a great opportunity for understanding the connection between genetic variation and its physical manifestation. As such, SNPs are the focus of much attention in the pharmacogenomic arena. One significant challenge facing the field of SNP genotyping is the difficulty of selecting an optimal genotyping method, as both the scale and the scientific question a project is trying to answer heavily influence the choice of genotyping method. Researchers face alternatives at every step of the process, from the selection of which molecular technique to use, to a myriad of choices for labeling, detection and scoring. Life science suppliers are positioning themselves to support SNP genotyping with a broad spectrum of products and services, especially in the pharmaceutical segment. Based on a 34-question survey of over 500 scientists who currently perform or outsource SNP genotyping, The Market for SNP Genotyping Products & Services provides suppliers with insights into what is required to support this research. In order to benchmark the current state of the market for SNP genotyping, the report details researchers' experimental parameters, current and future levels of sample throughput and the genotyping methods utilized. Many scientists do not perform SNP genotyping in-house, and instead rely on outsourcing samples to SNP genotyping providers. Understanding this segment of the SNP genotyping market¾including their reasons for outsourcing as well as for selecting a particular service provider¾is vital for suppliers trying to increase their stake in the outsourcing market. In addition to providing an understanding of the current state of the market, this report provides a closer look at potential improvements to SNP genotyping that would be of the most value to researchers, as well as the challenges of integrating genotyping and pharmacogenetics into clinical practice. Additionally, this report reveals respondents' satisfaction with their genotyping method-particularly the attributes of their genotyping methods that are of the greatest importance-and highlights areas where those methods perform above or below expectations. Furthermore, it examines the competitive dynamics of SNP genotyping service providers, and specifies areas where their genotyping services perform above or below customer expectations. The tremendous attention and money directed towards pharmacogenomics is likely to overshadow other applications of SNP genotyping while attracting both new customers and suppliers to the field. In this expanding market, successful competitors are likely to be those who practice careful positioning to appeal to the extremely diverse needs of their customers. By utilizing this report to understand the actual experiences, needs and preferences of researchers, suppliers of SNP genotyping products and services will be better positioned to refine existing tools to appeal to the diverse needs of their target market and to extend the use of their products and services into additional laboratories. Report Highlights The Market for SNP Genotyping Products & Services contains over 40 charts and/or tables and more than 15 cross-tabulations for the 34 survey questions. Below is a glimpse of the key findings derived from just a few of the survey questions: • The primary objective of SNP genotyping work is genome-wide disease association studies (46%) or population genetics (30%). • More than half of respondents reported that sequencing is the method most commonly used to perform SNP genotyping. • The instrument most commonly used for SNP genotyping is Applied Biosystems' PRISM Systems (32%) followed closely by their 7900HT Fast Real-Time PCR System (19%). • According to respondents, Applied Biosystems is the leading commercial provider of outsourcing services, followed by Illumina. • 34% of respondents suggest that decreasing the cost per SNP analyzed would be the most valuable improvement to their SNP genotyping research.

Table of Contents

Table of Contents The Market for SNP Genotyping Products & Services REPORT #05-047 Section 1. Analysis and Interpretation of Survey Results Executive Summary 1-1 Introduction 1-2 Key Findings 1-3 Objectives Experimental Parameters 1-5 Objectives of SNP genotyping work 1-6 Species/systems studied 1-7 Where SNP genotyping is performed Throughput 1-9 Multiplexing and throughput 1-12 SNP genotyping products 1-14 Instrumentation 1-15 Software solutions In-house Genotyping 1-17 Experimental set-up 1-19 Methods of genotyping 1-20 Genotyping method performance attributes Market Dynamics: Outsourcing SNP Genotyping 1-22 Reasons for outsourcing 1-24 Preferred suppliers 1-27 Product performance attributes Future Directions in SNP Genotyping 1-29 Accommodating increased throughput 1-30 Desired future improvements 1-32 Genotyping and clinical practice Conclusion Section 2. Study Methodology and Demographics 2-1 Methodology 2-6 Definition of Terms 2-7 Demographics 2-8 Questionnaire Section 3. Presentation of Survey Data Usage and Applications 3-1 Types of genetic variance studied 3-2 Primary objectives of SNP genotyping work 3-3 Specific species/specimens studied using SNP genotyping work 3-4 Phases of SNP genotyping that are elements of a typical SNP genotyping study conducted by labs 3-5 Percentage of SNP genotyping performed at specific locations In-House Genotyping 3-6 Database resources used to select validated SNPs for further study 3-8 Modified oligonucleotides used when performing SNP genotyping 3-9 Detection methods used when performing SNP genotyping 3-10 Automated workflow solutions currently incorporated into SNP genotyping workflow 3-11 Use of PCR as a component of SNP genotyping methods performed 3-12 Methods used to perform SNP genotyping 3-13 Methods primarily used to perform SNP genotyping 3-14 Overall satisfaction with specific features of SNP genotyping methods 3-16 Satisfaction with primary method for SNP genotyping 3-17 Products used for SNP genotyping 3-21 Instrumentation used for SNP genotyping 3-25 Software solutions used for SNP genotyping, allele- or base-calling analysis Outsourcing SNP Genotyping 3-29 Primary reason for outsourcing SNP genotyping 3-30 Contributing factors for outsourcing to particular service providers 3-31 Service providers used to conduct SNP genotyping studies 3-33 Satisfaction with specific features of the SNP genotyping performed by specific service providers 3-35 Overall satisfaction with SNP genotyping performed by service providers Experimental Design and Throughput 3-36 Scope of a typical SNP genotyping study conducted in a lab 3-38 Length of time a typical SNP genotyping study takes to be completed 3-39 Number of SNPs scored in each typical reaction 3-41 Average level of SNP genotyping throughput 3-42 Expectation for level of SNP genotyping throughput to change over the next 12 months 3-44 Primary plan to accommodate change in level of throughput 3-45 Average cost to analyze a single SNP Future Developments 3-46 Most valuable improvement to SNP genotyping 3-47 Perceived greatest challenges to the integration of genotyping/pharmacogenomics into clinical practice Section 4. Appendices 4-1 Insights and Perspectives 4-9 Cross-Tabulations of Survey Data 4-38 Other Recent Publications 4-40 About BioInformatics 4-41 Our Valued Clients