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U.S. Department of Health and Human Services

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Select FDA Guidance Documents That Relate to Personalized Medicine

From the FDA report "Paving the Way for Personalized Medicine," October 2013

More information about FDA's role in personalized medicine

Year Issued




Pharmacogenomic Data Submissions

Promotes the use of pharmacogenomic data in drug development and provides recommendations to sponsors on: 1) when to submit pharmacogenomic data to the Agency during the drug or biological drug product development and review processes; 2) what format and content to provide for submissions; and 3) how and when the data will be used in regulatory decision making. Encourages voluntary genomic data submission (VGDS) as a means to gaining a greater understanding of issues surrounding the use of pharmacogenomic data in drug development. Companion guidance issued in 2007 to reflect experience gained in VGDS.


Pharmacogenomic Tests and Genetic Tests for Heritable Markers

Aims to facilitate progress in the field of pharmacogenomics and genetics by helping to shorten development and  review timelines, to facilitate rapid transfer of new technology from the research bench to the clinical diagnostic laboratory, and to encourage informed use of pharmacogenomic and genetic diagnostic devices. Recommends a basic framework for the types of data and regulatory issues that should be addressed in a genetic test submission and provides a common baseline from which both manufacturers and scientific reviewers can operate.


Statistical Guidance on Reporting Results from Studies Evaluating Diagnostic Tests

Describes statistically appropriate practices for reporting results from different studies evaluating diagnostic tests and identifies common inappropriate practices. The recommendations in this guidance pertain to diagnostic tests where the final result is qualitative (even if the underlying measurement is quantitative), with a focus on discrepant resolution and its associated problems.


E15 Definitions for Genomic Biomarkers, Pharmacogenomics, Pharmacogenetics, Genomic Data and Sample Coding Categories

Clarifies the definitions of key terms in the discipline of pharmacogenomics and pharmacogenetics, namely genomic biomarkers, pharmacogenomics, pharmacogenetics, and genomic data and sample coding categories in an effort to develop harmonized approaches to drug regulation.


Adaptive Design Clinical Trials for Drugs and Biologics (Draft Guidance)

Describes how designing clinical trials with adaptive features (i.e., changes in design or analyses guided by examination of the accumulated data at an interim point in the trial) may make studies more efficient, more likely to demonstrate an effect of the drug if one exists, or more informative. Provides advice to sponsors on special considerations that arise with the use of adaptive design trials in drug development programs, and when to interact with FDA in planning and conducting these studies and what information is required.


Qualification Process for Drug Development Tools  (Draft Guidance)

Describes the qualification process for DDTs – including but not limited to biomarkers and patient reported outcomes (PRO) instruments – intended for potential use, over time, in multiple drug development programs. Provides a framework for identifying data needed to support qualification and creates a mechanism for formal review. Once qualified, the DDT can be used by drug developers for the qualified context in new submissions without having to reconfirm the suitability of the tool, helping to speed therapy development and evaluation.


Clinical Considerations for Therapeutic Cancer Vaccines

Provides recommendations for the design of clinical trials for cancer vaccines conducted under an IND to support a subsequent BL A for marketing approval. Discusses considerations common to phase 1, 2, and 3 clinical trials, as well as considerations that are unique to specific stages of clinical development of therapeutic cancer vaccines. The products discussed in this guidance are therapeutic cancer vaccines intended to result in specific responses to a tumor antigen and are intended for the treatment of patients with an existing diagnosis of cancer.


Commercially Distributed In Vitro Diagnostic Products Labeled for Research Use Only or Investigational Use Only:  Frequently Asked Questions (Draft Guidance)

The marketing of unapproved and uncleared “research use only” (RUO) and “investigational use only” (IUO) I VD products for purposes other than research or investigation has led in some cases to diagnostic use of laboratory tests with unproven performance characteristics and manufacturing controls that are inadequate to ensure consistent manufacturing of the finished product. Use of such tests for clinical diagnostic purposes may mislead healthcare providers and cause serious adverse health consequences to patients. This guidance is intended to clarify the types of I VD products that are properly labeled RUO or IUO, and provide responses to some frequently asked questions about how such products should and should not be marketed.


E16 Biomarkers Related to Drug or Biotechnology Product Development:  Context, Structure, and Format of Qualification Submissions

The use of biomarkers has the potential to facilitate the availability of safer and more effective drug or biotechnology products, to guide dose selection, and to enhance their benefit-risk profile. Qualification is a conclusion that, within the stated context of use, the results of assessment with a biomarker can be relied upon to adequately reflect a biological process, response, or event, and support use of the biomarker during drug or biotechnology product development, ranging from discovery through post approval. This guidance creates a harmonized recommended structure for biomarker qualification applications that fosters consistency of applications across regions and facilitates discussions with and among regulatory authorities.


Evaluation of Sex Differences in Medical Device Clinical Studies (Draft Guidance)

This guidance outlines CDRH’s expectations regarding sex-specific patient enrollment, data analysis, and reporting of study information. The intent is to improve the quality and consistency of available data regarding the performance of medical devices in women. This information can be of benefit to patients and their medical providers, as well as clinical researchers and others. The specific objectives of this guidance are to: 1) better communicate the balance of risks and benefits of FDA-approved or cleared medical devices; 2) identify sex-specific questions for further study; and 3) encourage the consideration of sex and associated covariates (e.g., body size, plaque morphology) during the trial design stage.


Applying Human Factors and Usability Engineering to Optimize Medical Device Design (Draft Guidance)

This guidance is intended to assist the medical device industry to address the needs of users in the design of devices, particularly to minimize the occurrence of use errors that could result in harm to the patient or device user. The guidance discusses human factors and usability engineering processes used in the design and evaluation of medical devices and provides details about methods to use to generate validation data to show that the device is safe and effective for the intended users, uses and use environments.


Enrichment Strategies for Clinical Trials to Support Approval of Human Drugs and Biological Products (Draft Guidance)

Enrichment is increasingly used as a strategy for increasing study efficiency. This document describes three enrichment strategies that can be used in clinical trials intended to support effectiveness and safety claims in new drug applications and biologics license applications, including: 1) decreasing heterogeneity (practical enrichment); 2) identifying high-risk patients (prognostic enrichment); and 3) choosing patients most likely to respond to treatment (predictive enrichment).


Factors to Consider When Making Benefit-Risk Determinations in Medical Device Premarket Approval and De Novo Classifications

This guidance document explains the principal factors that FDA considers when making benefit-risk determinations in the premarket review of certain medical devices. The guidance sets out the principal factors FDA considers when making these determinations, including consideration of patient tolerance for risk and evidence relating to patients’ perspectives of what constitutes a meaningful benefit when determining if the device is effective.


The Content of Investigational Device Exemption (IDE) and Premarket Approval (PMA) Applications for Artificial Pancreas Device Systems

This guidance informs industry and agency staff of FDA’s recommendations for analytical and clinical performance studies to support premarket submissions for artificial pancreas systems. The guidance outlines considerations for development of clinical studies and recommends elements that should be included in IDE and PMA applications for artificial pancreas systems, including threshold suspend systems, single hormonal control systems, and bihormonal control systems. The guidance focuses on critical elements of safety and effectiveness for approval of this device type, while keeping in mind the risks diabetic patients face every day.


Mobile Medical Applications

Describes the need for regulatory oversight of mobile medical applications that pose potential risks to public health. Clarifies that FDA plans to focus its regulatory oversight on a subset of mobile apps that either are used as an accessory to a regulated medical device or transform a mobile platform into a regulated medical device.


Clinical Pharmacogenomics: Premarket Evaluation in Early-Phase Clinical Studies and Recommendations for Labeling

This guidance is intended to assist the pharmaceutical industry and other investigators engaged in new drug development in evaluating how variations in the human genome, specifically DNA sequence variants, could affect a drug’s pharmacokinetics (PK), pharmacodynamics (PD), efficacy, or safety. It provides recommendations on when and how genomic information should be considered to address questions arising during drug development and regulatory review, focusing on general principles of study design, data collection, and data analysis in early-phase trials. It also provides recommendations for labeling.


FDA Decisions for Investigational Device Exemption (IDE) Clinical Investigations (Draft Guidance)

This guidance was developed to promote the initiation of clinical investigations to evaluate medical devices under FDA’s IDE regulations. The guidance provides clarification regarding the regulatory implications of the decisions that FDA may render based on review of an IDE and a general explanation of the reasons for those decisions. In an effort to promote timely initiation of enrollment in clinical investigations in a manner that protects study subjects, FDA has developed methods to allow a clinical investigation of a device to begin under certain circumstances, even when there are outstanding issues regarding the IDE submission. These mechanisms, including approval with conditions, staged approval, and communication of outstanding issues related to the IDE through study design considerations and future considerations, are described in this guidance.


Molecular Diagnostic Instruments with Combined Functions (Draft Guidance)

Molecular diagnostic instruments are critical components of certain in vitro diagnostic devices (IVDs). These types of instruments cannot generally be approved alone, (i.e., without an accompanying assay), because their safety and effectiveness cannot be evaluated without reference to the assays that they run and their defined performance parameters. However, the same instruments may also be used for additional purposes that do not require FDA approval or clearance, such as for basic scientific research. This draft guidance communicates FDA’s policy regarding the regulation of molecular diagnostic instruments with combined functions, including recommendations on the type of information that applicants should include in a premarket submission for a molecular diagnostic instrument that measures or characterizes nucleic acid analytes and has combined functions.


Providing Information about Pediatric Uses of Medical Devices Under Section 515A of the Federal Food, Drug, and Cosmetic Act (Draft Guidance)

Section 515A(a) of the FD&C Act requires persons who submit certain medical device applications to include, if readily available: 1) a description of any pediatric subpopulations that suffer from the disease or condition that the device is intended to treat, diagnose, or cure; and 2) the number of affected pediatric patients. This guidance document describes the type of information that FDA believes is readily available to the applicant, and the information FDA believes should be included in a submission to meet the pediatric use information requirements of the law.


Submissions for Postapproval Modifications to a Combination Product Approved Under a BLA, NDA, or PMA (Draft Guidance)

For a combination product that is approved under one application, there may be uncertainty on the part of the sponsor in determining the appropriate regulatory pathway for submitting a post-market submission for a change to a constituent part or to the combination product as a whole. This document provides guidance to industry and FDA staff on the underlying principles to determine the type of marketing submission that may be required for postapproval changes to a combination product, as defined in 21 CFR 3.2(e), that is approved under one marketing application, (i.e., a biologics license application (BLA), a new drug application (NDA), or a device premarket approval application (PMA)).


Current Good Manufacturing Requirements for Combination Products Final Rule

While CGMP regulations that establish requirements for drugs, devices, and biological products have been in place for many years, until 2013, there were no regulations that clarified and explained the application of these CGMP requirements when these drugs, devices, and biological products are constituent parts of a combination product. This rule is intended to promote the public health by clarifying which CGMP requirements apply when drugs, devices, and biological products are combined to create combination products. In addition, the rule sets forth a transparent and streamlined regulatory framework for firms to use when demonstrating compliance with CGMP requirements for “single-entity” and “co-packaged” combination products.


In Vitro Companion Diagnostic Devices - Guidance for Industry and FDA Staff

The development of therapeutic products that depend on the use of a diagnostic test to meet their labeled safety and effectiveness claims has become more common. These technologies – including IVD companion diagnostic devices – are making it increasingly possible to individualize, or personalize, medical therapy by identifying patients who are most likely to respond, or who are at lower or higher risk for a particular side effect. This guidance defines IVD companion diagnostic devices, provides information for industry and FDA on possible premarket regulatory pathways and FDA's regulatory enforcement policy, and describes certain statutory and regulatory approval requirements relevant to therapeutic labeling.