Regulation of Personalized Medicine: A Status Report

Expect evolution within the industry, as well as at FDA, as personalized medicine becomes the standard, rather than the exception, to biomedical innovation and product development.

By Antoinette F. Konski, Partner, Foley and Lardner LLP

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Personalized Medicine seeks to individualize health care by identifying the most effective or comfortable treatment for that individual. Finding the right treatment for the right individual at the right time can be applied preventively or therapeutically. In one aspect of personalized medicine, an individual’s genetic code is analyzed and used to identify the individual’s response potential to a variety of available drugs. After testing, the appropriate healthcare strategy can be implemented to provide the best treatment for that patient’s disease rather than through a trial-and–error approach.

Herceptin [1] is one example of a drug that has a test (a “companion diagnostic”) that identifies patients amenable to treatment based on the patient’s genetic code. The drug is reported to slow down or stop the growth of breast cancer in the 25% of patients with metastatic disease who overexpress the HER2 gene or HER2 receptors. Several tests are available to test for overexpression and therefore, the likelihood that Herceptin will treat the patient [2].

Many patients have received the benefits personalized medicine with over 70 products currently on the market [3]. However, widespread implementation of personalized medicine, and in particular companion diagnostics, has been hampered in part by unclear regulatory requirements. The Personalized Medicine Coalition (a nonprofit trade organization that seeks to provide a structure for achieving consensus positions among its members on crucial policy issues [4]) reports that the current state of medical testing regulation for personalized medicine products has created uncertainty for companies in terms of how much investment is necessary to get a product on the market and keep it there [5].

Companion Diagnostics – Kits or Lab Tests

Companion diagnostics are the workhorse of personalized medicine as they link the individual’s genomics to the therapeutic or treatment. The tests typically fall into two main categories, diagnostic kits and laboratory-developed tests (“LDTs”). Diagnostic tests contain all the reagents and information necessary to carry out the test and are regulated by the Food and Drug Administration (“FDA”) as medical devices. The majority of companion diagnostics are LDTs. LDTs require more extensive sample preparation and specialized equipment to perform the tests. The FDA and the Centers for Medicare and Medicaid Services (CMS) have jurisdiction to regulate LDTs. Historically, the FDA has not exercised its regulatory authority over LDTS thereby allowing CMS to regulate LDTs under the Clinical Laboratory Improvement Amendment (CLIA) rules.

In Vitro Companion Diagnostic Devices Guidance

Recently, the U.S. Food and Drug Administration (FDA) took a step toward addressing concerns that the FDA is not keeping up with the pace of innovation in this fast-moving field [6]. In July of 2011, the agency issued a Draft Guidance (“Guidance”) to assist those (1) who are planning to develop a therapeutic product that depends on the use of such a device/test for the product’s safe and effective use, and (2) who develop a companion diagnostic device intended for use with a corresponding therapeutic product. A brief overview of the FDA’s proposed regulations is provided below.

Recommended Regulatory Process

In the Draft Guidance, the FDA recommends contemporaneous development of a drug and its corresponding diagnostic device. If the device and its test results are essential for the drug’s safety and efficacy, the FDA will not approve the product or use of the product with the device if the FDA has not also approved/cleared the device itself. However, the FDA will retain discretion to approve a drug for use with a companion device, even if the FDA has not yet approved/cleared the device. In this situation, the FDA expects it will approve/clear the device subsequently, and that sponsors will revise relevant therapeutic product labeling accordingly, with certain additional precautions to protect public safety.

Investigational Use

A diagnostic device used to make treatment decisions in a clinical trial is considered to be an investigational device (“IVD”) unless the device is used in a manner that is already approved/cleared. If the device/test is used to make critical treatment choices, such as patient selection or treatment, the diagnostic test will be considered a significant risk device because it presents serious risk to health, safety or welfare of the patient. In such situations, the device sponsor must comply with investigational device exemption (IDE) regulations.

A diagnostic device and therapeutic product may be studied in the same investigational study, as long as the study otherwise meets IDE and investigational new drug (IND) regulations. The planned use of an IVD companion diagnostic device and its use in clinical trials should be submitted by the sponsor in an investigational submission. The Draft Guidance also recommends that the device sponsor and the therapeutic product sponsor submit information about the proposed IVD companion diagnostic device in a preIND submission.


The Draft Guidance also addresses labeling of therapeutic products that depend on a diagnostic test. Existing FDA regulations indicate that product labeling must include information relating to relevant laboratory tests. Where appropriate, the Indications and Usage section of a label must define the patient subpopulation that would be treated with the drug. If a diagnostic test is essential for monitoring beneficial or adverse effects of a therapeutic product, the Warnings and Precaution section must identify the type of test necessary for monitoring effects. Labeling must include information about the type of device (i.e., intended use of the device), rather than a specific manufacturer’s device. Moreover, if the FDA approves/clears a companion diagnostic device after it approves a relevant therapeutic product, the product label must be amended to incorporate such information.

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