Medical Diagnosis

Using medical advances made possible by genetic sequencing to facilitate a new era of medical research


  • Facilitate the delivery of personalized, efficient medical treatment
  • Enable genetically tailored treatment plans

Imagine receiving a cancer diagnosis, and with it a laboratory report that identifies the biological makeup of your cancer, as well as a drug therapy regimen that is designed specifically to attack that cancer and repair your body. Robust sequencing capabilities are critical to the advancement of personalized medicine, as the treatment of disease shifts to therapies that are specific to an individualís unique genetic makeup.

With instruments that unlock the secrets of our DNA, and products and services that advance the promise of regenerative science, we are helping usher in an era of personalized medicine and putting it within the reach of every researcher in every lab.


  • Officially launched the Ion Proton™ Sequencer, greatly improving accessibility and speed in genomic sequencing
  • Expanded our molecular diagnostics business, acquiring full spectrum capability to develop and commercialize cancer diagnostics where there is currently great unmet need
  • Partnered with Boston Children's Hospital to launch Claritas Genomics, a new company formed to develop next-generation, genetic, and genomics-based diagnostic testing solutions
  • Collaborated with Translational Genomics Research Institute (TGen) and US Oncology Research on a whole-genome sequencing study that revealed previously unreported mutations in metastatic triple-negative breast cancer (TNBC)
  • Unveiled QuantStudio™ 3D Digital PCR System, designed to detect very rare mutations linked to cancer and other genetically based diseases

Bringing the $1,000 Genome Closer to Reality to Kick-start a Discovery Revolution

Chief among the hundreds of new solutions we launched in 2012 is the Ion Proton™ Sequencer—the world's first genetic sequencer that will decode the human genome in just a few hours, at a dramatically lower cost. This platform will change research by making sequencing technology accessible to all labs, and change medical care by providing answers that will help us understand the origins of many diseases.


Making Cancer a More Treatable, Survivable Disease

In 2012, we took our first steps in executing against a strategy to build out our molecular diagnostics business: we acquired Navigenics and Compendia Bioscience to advance cancer diagnosis and treatment broadly, and Pinpoint Genomics to change the treatment paradigm for lung cancer specifically with more effective diagnostics for predicting reoccurrence. Collectively, these acquisitions afford us the full-spectrum capability to develop and commercialize high-value cancer diagnostics where there is currently great unmet need.

Launching Claritas Genomics with Boston's Children's Hospital | Read More

Whole-genome Sequencing Study Reveals Previously Unreported Mutations in TNBC | Read More

New TaqMan® Assays Identify Minute Cancer Cells | Read More

Study Targets Hard-to-Treat Triple Negative Breast Cancer | Read More

DNA Analysis Unlocks Medical Mystery for Beery Twins | Read More

Partnering with TGen to Advance Personalized Medicine | Read More

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