1. Market Research
  2. > Biotechnology
  3. > Genomics Market Trends

Advances in Clinical Genome Sequencing and Diagnostics - Overview

  • March 2013
  • Insight Pharma Reports
Report ID: 1178360

Summary

Table of Contents

This report explores the recent surge in clinical genome sequencing, from the point of view of the sequencing providers, the medical organizations delivering these services, and the start-ups offering a variety of interpretation services, platforms, and business models.

Aspects discussed and presented include:

• Progress in clinical genome sequencing
• Organizations leading the way in generating clinical data and its interpretation.
• Determining the causality of documented variants in genetic disease.
• Clinical genome sequencing in oncology.
• Academic and commercial clinical genomics providers.
• The next-gen sequencing landscape.
• Companies providing genome interpretation software.
• Initiatives in setting sequencing standards.
• Interviews with six industry experts, conducted exclusively for this report.
• Results of a custom survey on clinical genome sequencing.
• A list of print and online resources for further investigation into this area.

For many years now, next-generation sequencing (NGS) has been used in clinical research, building on the success of being able to sequence personal genomes affordably, and turning that technology into defining the mutation profile of rare Mendelian diseases and cancer. With the first report of successful exome sequencing in a patient with a mystery illness, the clinical community has embraced NGS—performed in CLIA- and CAP-certified laboratories—for diagnostic testing.

Nevertheless, at the $1,000–5,000 price point, medical practitioners face a dilemma: It is possible to offer to sequence the exome or complete genome of a patient for roughly the same price as a traditional patented genetic diagnostic test or gene panel. Economics alone would appear to dictate that the practice of medical genetics and clinical diagnostics must evolve radically in the face of the remarkable advances in NGS. That sentiment has been bolstered in recent years with more and more anecdotal stories of the identification of mutations in patients suffering mysterious/undiagnosed (presumably) genetic disorders. Emboldened by these success stories, medical centers, sequencing platform providers, and diagnostics companies are rethinking their strategies for delivering exome and/or whole-genome sequencing services.

In a further irony, the cost of sequencing has fallen so fast that it is now a relatively trivial component of the full array of services required to deliver clinical genome information—what some have (literally or tongue-in-cheek) called the $100,000 or $1 million interpretation. Leaving aside the apples-and-oranges debate of the precise cost of genome interpretation, there is no doubt that 2012 proved to be a stunning year for the maturation of clinical genome testing. Several prominent, public stories relating to the successful end of diagnostic odysseys provide gratifying examples of the potential of this technology. Cases of families receiving a confirmed diagnosis after years of false hope and hundreds of thousands of dollars in medical costs show the benefit of this approach, and beg the question of how long the molecular diagnostics industry will continue in its single-gene/multigene panel approach. (After all, the exome is essentially just one giant gene panel with 22,000 genes.)

Exciting, remarkable progress in clinical genome sequencing is being fueled by steady advances in existing platforms, the arrival of new diagnostic platforms, and improvements in genome analysis software. That said, the adoption of clinical NGS is not trivial, and many questions still remain about setting standards, ensuring analytic and clinical validity of the tests, and reimbursement.

About the Author

Kevin Davies, PhD, is the founding editor of Bio-IT World and the journal Nature Genetics. He is the author of three books that explore the impact of technology and genomics in medicine, most recently “The $1,000 Genome” (Free Press, 2010). Kevin also serves as an advisor to Cambridge Healthtech Associates and blogs at NGS Leaders.

Get Industry Insights. Simply.

  • Latest reports & slideshows with insights from top research analysts
  • 60 Million searchable statistics with tables, figures & datasets
  • More than 25,000 trusted sources
  • Single User License — provides access to the report by one individual.
  • Department License — allows you to share the report with up to 5 users
  • Site License — allows the report to be shared amongst all employees in a defined country
  • Corporate License — allows for complete access, globally.

Ahmad helps you find the right report:

Testimonials

The research specialist advised us on the best content for our needs and provided a great report and follow-up, thanks very much we shall look at ReportLinker in the future.

Kate Merrick

Global Marketing Manager at
Eurotherm by Schneider Electric

We were impressed with the support that ReportLinker’s research specialists’ team provided. The report we purchased was useful and provided exactly what we want.

Category Manager at
Ikea

ReportLinker gave access to reliable and useful data while avoiding dispersing resources and spending too much time on unnecessary research.

Executive Director at
PwC Advisory

The customer service was fast, responsive, and 100% professional in all my dealings (...) If we have more research needs, I'll certainly prioritize working with ReportLinker!

Scott Griffith

Vice President Marketing at
Maurice Sporting Goods

The research specialist provided prompt, helpful instructions for accessing ReportLinker's product. He also followed up to make sure everything went smoothly and to ensure an easy transition to the next stage of my research

Jessica P Huffman

Research Associate at
American Transportation Research Institute

Excellent customer service. Very responsive and fast.

Director, Corporate Strategy at
Ingredion

I reached out to ReportLinker for a detailed market study on the Air Treatment industry. The quality of the report, the research specialist’s willingness to solve my queries exceeded my expectations. I would definitely recommend ReportLinker for in-depth industry information.

Mariana Mendoza

Global Platform Senior Manager at
Whirlpool Corporation

Thanks! I like what you've provided and will certainly come back if I need to do further research works.

Bee Hin Png

CEO at
LDR Pte Ltd

The research specialist advised us on the best content for our needs and provided a great report and follow-up, thanks very much we shall look at ReportLinker in the future.

Kate Merrick

Global Marketing Manager at
Eurotherm by Schneider Electric

Purchase Reports From Reputable Market Research Publishers

Non-Invasive Prenatal Testing (NIPT) Market by Instruments (Ultrasound, NGS, PCR, Microarray), Consumables, Method (FCMB, cf-DNA), Application (Trisomy, Microdeletion, Genetics, Rh factor) & End User (Hospital, Diagnostic Labs) - Global Forecast to 2021

  • $ 5650
  • Industry report
  • March 2017
  • by MarketsandMarkets

The global non-invasive prenatal testing (NIPT) market is projected to reach USD 2.88 billion by 2021 from USD 1.35 billion in 2016, at a CAGR of 16.4% from 2016 to 2021. The major factors driving the ...

Next-Generation Sequencing (NGS) Market by Product (Hiseq, Miseq, Hiseq X Ten/X Five, NextSeq500, Ion Proton, PGM, Ions5, PacBio RSII), Services (Targeted, RNA, Exome, De Novo), & Application (Diagnostics, Biomarker, Agriculture) - Global Forecasts to 202

  • $ 5650
  • Industry report
  • April 2017
  • by MarketsandMarkets

The global next-generation sequencing market is estimated to register a CAGR of 20.5% from 2017 to 2022 to reach USD 12.45 billion by 2022. Factors such as technological advancements in NGS platforms, ...

High Throughput Process Development Market by Product & Service (Instrument, Software and Service), Molecule Type (Monoclonal Antibodies, Recombinant Insulin), Process (Upstream, Downstream), End User - Forecast to 2021

  • $ 5650
  • Industry report
  • April 2017
  • by MarketsandMarkets

The global high throughput process development market is expected to reach USD 19.78 billion in 2021 from USD 9.91 billion in 2016, at a CAGR of 14.8% from 2016 to 2021. Growth in the high throughput process ...

Global Dpcr Market 2017-2021

March 2017 $ 3500

Download Unlimited Documents from Trusted Public Sources

Genomics Industry in New Zealand

  • May 2017
    8 pages
  • Genomics  

  • New Zealand  

View report >

Obesity Statistics in the Netherlands

  • April 2017
    177 pages
  • Obesity  

    Genetic  

    Type 2 Diabetes  

  • Netherlands  

View report >

Genetic Industry in Europe

  • April 2017
    15 pages
  • Genetic  

  • Europe  

View report >

Genomics Industry

3 months ago

Related Market Segments :

Genome Sequencing

ref:plp2013

Reportlinker.com © Copyright 2017. All rights reserved.

ReportLinker simplifies how Analysts and Decision Makers get industry data for their business.