23andme approved to market 10 genetic risk tests, FDA simplifies pathway for more

For the first time, the FDA gave DNA-testing company 23andMe authorization to market direct-to-consumer (DTC) genetic health risk (GHR) tests that provide information on an individual’s genetic predisposition to certain medical diseases or conditions. However, in announcing the approval, the FDA cautioned consumers to remember that GHR tests cannot predict the likelihood of developing a disease or condition, which depends on many factors beyond genetics.

23andMe’s GHR tests work by testing a saliva sample, isolating DNA from that sample, and testing it against 50,000 genetic variants. Certain variants are associated with an increased risk for developing certain genetic conditions. The GHR tests approved by the FDA are associated with:

The 23andMe GHR tests were reviewed by the FDA through the de novo premarket review pathway, but in the future, the agency will exempt 23andMe from premarket review for additional related GHR tests, while other companies will also have the opportunity for an exemption after their first GHR tests receive premarket approval. However, this exemption does not apply to GHR tests that function as diagnostic tests, which are often used as the sole basis for major treatment decisions.

In 2013, the FDA issued a warning letter to 23andMe requiring the company to immediately halt marketing for their DNA testing kits until it secured FDA premarket approval. At that time, the FDA noted that 23andMe failed to complete studies that could validate the effectiveness of the DNA test kits and failed to provide additional information requested by the agency (see Citing Risks of Illness, Injury, or Death, FDA Orders 23andMe, Inc. to Stop Marketing DNA Test Kits, December 5, 2013). For this new approval, 23andMe submitted supporting data from peer-reviewed, scientific literature that demonstrated a link between specific genetic variants and each of the 10 health conditions. The FDA also reviewed studies, which demonstrated that 23andMe GHR tests correctly and consistently identified variants associated with the 10 indicated conditions or diseases from a saliva sample.

Risks associated with use of the 23andMe GHR tests include false findings, both false positives indicating incorrectly that an individual has a certain genetic variant, and false negatives indicating incorrectly that he or she does not have a certain genetic variant.

HELP Committee hears ardent support for next round of user fee agreements

Four witnesses expressed their support of the continuation of FDA user fee agreements before the Senate Committee on Health, Education, Labor, and Pensions (HELP) on April 4, 2017. These user fee agreements cover prescription drugs, biosimilar drugs, generic drugs, and medical devices (PDUFA, BDUFA, GDUFA, and MDUFA, respectively), requiring manufacturers to pay fees that fund the FDA’s approval processes. According to the witnesses, continuing to impose these fees is vital to ensuring the successful development and approval of future therapies.


David Gaugh, a senior vice president of the Association for Accessible Medicines (AAM), emphasized the necessity of the partnership between the pharmaceutical industry and the FDA. Although there has been significant growth in the generic and biosimilar industries, he reminded the committee that the FDA is underfunded and depends on the user fees to speed up the approval process. The AAM also believes that the GDUFA program will incentivize competition by reducing the number of FDA review cycles, removing barriers to drug approval for companies and access to therapies for patients.

Scott Whitaker, president and CEO of the Advanced Medical Technology Association (AvaMed), felt the same way about MDUFA. He believes that the decline in the number of medical technology startups and venture capital investment in recent years is due to the length of time to develop devices, seek approval, and enter them into the stream of commerce. Whitaker noted the MDUFA IV agreement builds upon the provisions in the 21st Century Cures Act (Cures Act) to continually improve the efficiency of the approval process while maintaining strict standards for safety and effectiveness.

Cynthia Bens, vice president at Alliance for Aging Research, and Kay Holcombe, senior vice president at Biotechnology Innovation Organization (BIO), also expressed their support for the programs. Bens lauded Congress for allowing patient organizations to participate in the user fee negotiations, and expressed thanks to the FDA for allowing the Alliance to provide feedback throughout the negotiating process. She highlighted strengthening the FDA’s workforce, increased patient-focused drug and device development methods, and advancing clinical trials as positive outcomes from the user fees. Holcomb also stressed the necessity of integrating patient input into the decision-making process, noting that patients are best able to weigh in on the risks and benefits of treatment. Holcombe believes that the new round of user fee agreements will provide better program sustainability and financial transparency, allowing the FDA to better manage personnel, ramp up approval timelines, and develop innovative clinical trial designs.

Committee holds optimistic hearing on medical device fees

The Energy and Commerce Subcommittee on Health held a hearing on March 28, 2017, to consider the reauthorization of the FDA Medical Device User Fee Amendments (MDUFA). The MDUFA, set to expire in September 2017, authorizes the FDA to collect fees from the medical device industry in order to support product reviews. The MDUFA was last reauthorized in 2012 and must be reauthorized every five years. In his opening statement, Subcommittee Chairman Michael Burgess (R-Texas) noted that approving the reauthorization would “increase efficiency at the FDA and ensure that American patients benefit from advances in biomedical technology and innovation as soon as safely possible.”


The agreement under consideration (MDUFA IV) is an extension of previous MDUFA process improvements. The agreement builds on existing federal law, streamlines the development and review of medical devices, and would average approximately $200 million in negotiated fees for the FDA per year.

Approval time

Jeffery Shuren, Director of the FDA Center for Devices and Radiological Health, testified as to the previous success of the MDUFA, noting that between 2009 and 2015, the time it took to reach a decision on a premarket approval application (PMA) decreased 35 percent. Additionally, between 2010 and 2015, the time it took to reach a decision on a 510(k) decreased 11 percent. Shuren suggested that further progress can be made. Robert Kieval, a Board Member of the Medical Device Manufacturers Association (MDMA), testified that the most recent agreement includes updated decision time targets for 510(k)s and PMAs, and, for the first time, review time goals for de novo technologies and pre-submissions. Specifically, Patrick Daly of Cohera Medical testified the MDUFA IV aims to bring decision time for PMAs from 385 days to 290 days and bring decision times for 510(k)s from 124 days to 108 days.


Diane Wurzburger a regulatory affairs executive at GE Healthcare, testified on behalf of the Medical Imaging and Technology Alliance (MITA). She noted that the medical imaging community is looking for more predictability, consistency, transparency and timeliness in the premarket device review process. Specifically, she said manufacturers are interested in shortening 510(k) approval time, obtaining performance metrics for the pre-submission process, and third-party independent assessments. She also reiterated previous comments that the MDUFA advances shared goals between the FDA and the medical device industry.

FDA considers establishing a new ‘Office of Patient Affairs’

The FDA announced that it is establishing a public docket to solicit public input on ongoing efforts to enhance mechanisms for patient engagement at the agency. In addition, to achieve a more transparent, accessible, and robust experience for patient communities, the FDA is considering establishing a new Office of Patient Affairs.

On November 4, 2014, the FDA established a docket (FDA-2014-N-1698) for the public to submit information related to the FDA’s implementation of the Food and Drug Administration Safety and Innovation Act (FDASIA) (P.L. 112-144), Patient Participation in Medical Product Discussions under FDASIA section 1137.

Based on the comments received, the FDA identified objectives for its patient engagement activities. First, to develop a nuanced understanding of the patient experience of disease by: (1) gathering patient perspective on what is clinically meaningful; (2) assessing attitudes towards benefit-risk and tolerance of uncertainty; and (3) enhancing the science of eliciting and integrating patient input.

Second, to support patients and their advocates in understanding regulatory processes and navigating the FDA by: (1) communicating relevant FDA positions, procedures, and activities; (2) connecting patients and their advocates with the appropriate resources; and (3) resolving discrete challenges and needs.

To achieve these objectives, the FDA is considering establishing a central “Office of Patient Affairs.” The responsibilities of this central office would include:

  • offering a single, central entry point to the FDA for the patient community;
  • providing triage and navigation services for inbound inquiries from patient stakeholders;
  • hosting and maintaining robust data management systems that would incorporate and formalize knowledge shared with the FDA by patient stakeholders and the FDA’s relationships with patient communities; and
  • developing a scalable and forward-looking platform for communicating with patient stakeholders, particularly online channels.

The Office of Patient Affairs would be directly accountable to the medical product Centers. A regular evaluation of this central office and of FDA’s overall patient engagement efforts are also proposed.