Precision MedicineA New Initiative

The Concept of Precision Medicine (PM)

The prevention and treatment strategies that take individual variability into account.

The prospect of applying PM broadly has been dramatically improved by:

1. The development of large-scale biologic databases (such as the human genome sequence)

2. Patient characterization such as proteomics, metabiolomics, genomics, cellular assays, and mobile health technology

3. Computational tools for the analysis of large data sets

Oncology is well suited for studying the near-term impact of PM

• Research has revealed many of the molecular lesions that drive cancers. Each cancer has its own genomic signature, with tumor-specific features and features common to multiple tumor types.

• Cancers are a consequence of accumulating genomic damage.

• Inherited genetic variations contribute to cancer risk.

• This understanding has influenced risk assessment, diagnostic categories, and therapeutic strategies.

• Drugs and antibodies have been developed designed to counter specific molecular drivers.

• Molecular signatures may be strong predictors of benefit.

Cancer-focus is designed to address obstacles encountered in “Precision Oncology”:

1. Unexplained drug resistance

2. Genomic heterogeneity of tumors

3. Insufficient means for monitoring responses and tumor recurrence

4. Limited knowledge about the use of drug combinations

PM’s more individualized, molecular approach may:

1. Modify, but not replace, prevention, diagnostics, screening, and effective treatments

2. May provide a framework for accelerating the adoption of precision medicine in inherited genetic disorders and infectious diseases

The Precision Medicine Initiative will generate the scientific evidence needed to

move the concept of precision medicine into clinical practice.

NEAR TERM GOALS

Innovative clinical trials of targeted drugs for adult, pediatric cancers

Use of combination therapies

Knowledge to overcome drug resistance

LONGER TERM GOALS

Create a research cohort of > 1 million American volunteers who will share genetic

data, biological samples, and diet/lifestyle information, all linked to their electronic health

records if they choose.

Pioneer a new model for doing science that emphasizes engaged participants, responsible data sharing, and privacy protection.

Research based upon the cohort data will:

1. Advance pharmacogenomics, the right drug for the right patient at the right dose

2. Identify new targets for treatment and prevention

3. Test whether mobile devices can encourage healthy behaviors

4. Lay scientific foundation for precision medicine for many diseases

LONGER TERM GOALS

www.nih.gov/precisionmedicine

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