Regulation of Molecular Diagnostics.

Molecular diagnostic tests enable rapid analysis of genomic and proteomic markers. These tests are subject to diverging premarket access and postmarket surveillance requirements and mechanisms in the United States and the European Union. Each of these jurisdictions has its own challenges in keeping the regulations up to date with technological developments. A specific area of attention is that of laboratory-developed tests in the United States and health institution in-house-produced tests in the European Union, for which the United States and the European Union have markedly different regulatory approaches. Both jurisdictions have specific but differing requirements for the use of test samples and test-related data under their rules regarding the protection of (personal) health data, which can cause complexity when moving samples or sample-related data from one jurisdiction to the other.

How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?

Delivering high quality genomics-informed care to patients requires accurate test results whose clinical implications are understood. While other actors, including state agencies, professional organizations, and clinicians, are involved, this article focuses on the extent to which the federal agencies that play the most prominent roles - the Centers for Medicare and Medicaid Services enforcing CLIA and the FDA - effectively ensure that these elements are met and concludes by suggesting possible ways to improve their oversight of genomic testing.

Who's on third? Regulation of third-party genetic interpretation services.

In recent years, third-party genetic interpretation services have emerged to help individuals understand their raw genetic data obtained from researchers, clinicians, and direct-to-consumer genetic testing companies. The objectives of these services vary but include matching users to genetic relatives, selling customized diet and fitness plans, and providing health risk assessments. As these services proliferate, concerns are being raised about their accuracy, safety, and privacy practices. Thus far, US regulatory agencies have not taken an official position with respect to third-party genetic interpretation services, which has caused uncertainty regarding whether and how they might be regulated. To clarify this area, we analyzed their potential oversight by four US agencies that generally have been active in the regulation of genetic testing services and information: the Centers for Medicare and Medicaid Services, the Food and Drug Administration, the Department of Health and Human Services' Office of Civil Rights, and the Federal Trade Commission. We conclude that the scope of federal jurisdiction over third-party genetic interpretation services-while limited-could be appropriate at this time, subject to agency clarification and appropriate exercise of oversight.

Barriers to clinical adoption of next-generation sequencing: a policy Delphi panel's solutions.

AIM: Identify solutions to the most important policy barriers to the clinical adoption of next-generation sequencing. MATERIALS & METHODS: Four-round modified policy Delphi with a multistakeholder panel of 48 experts. The panel deliberated policy solutions to (previously reported) challenges deemed most important to address. RESULTS: The group advocated using consensus panels to promote consistency in payer policies and to standardize test reporting, and favored making genomic data-sharing a condition of regulatory clearance, certification, or accreditation processes. They were split on the role of US FDA. CONCLUSION: Panelists found common ground on solutions for health plan coverage policy consistency, data-sharing, and standardizing reporting, but were sharply divided on the role of the FDA in mitigating risks to patients.

Barriers to clinical adoption of next generation sequencing: Perspectives of a policy Delphi panel.

This research aims to inform policymakers by engaging expert stakeholders to identify, prioritize, and deliberate the most important and tractable policy barriers to the clinical adoption of next generation sequencing (NGS). A 4-round Delphi policy study was done with a multi-stakeholder panel of 48 experts. The first 2 rounds of online questionnaires (reported here) assessed the importance and tractability of 28 potential barriers to clinical adoption of NGS across 3 major policy domains: intellectual property, coverage and reimbursement, and FDA regulation. We found that: 1) proprietary variant databases are seen as a key challenge, and a potentially intractable one; 2) payer policies were seen as a frequent barrier, especially a perceived inconsistency in standards for coverage; 3) relative to other challenges considered, FDA regulation was not strongly perceived as a barrier to clinical use of NGS. Overall the results indicate a perceived need for policies to promote data-sharing, and a desire for consistent payer coverage policies that maintain reasonably high standards of evidence for clinical utility, limit testing to that needed for clinical care decisions, and yet also flexibly allow for clinician discretion to use genomic testing in uncertain circumstances of high medical need.

Regulation of next generation sequencing.

Next generation sequencing raises new questions within the context of an existing and still evolving regulatory landscape for device manufacturers and clinical laboratories. FDA cleared the first NGS sequencing platform in November 2013, but it is unclear what lies ahead for this technology. NGS will require new types of training and expertise to interpret the vast quantities of genetic data so as to provide meaningful clinical information to physicians and patients. This paper will describe the current regulatory landscape for NGS technologies, identify the regulatory challenges they present, and consider whether new regulatory paradigms are needed to accommodate NGS technologies and services.

Take another little piece of my heart: regulating the research use of human biospecimens.

This article reviews the history of the debate over use of biospecimens in research, the legal and ethical arguments that have been presented both in support of and in opposition to such use, court cases and judicial opinions involving disputes between specimen contributors, researchers, and institutions, and public attitudes regarding the use of biospecimens in research. The paper argues that proposed changes to the Common Rule are inadequate to resolve the legal and ethical concerns that have been raised with respect to the use of biospecimens. It argues that there is a need to distinguish between the dual roles - subject and donor - played by contributors of biospecimens.

The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues.

This review surveys the developing market for direct-to-consumer (DTC) genetic tests and examines the range of companies and tests available, the regulatory landscape, the concerns raised about DTC testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical devices and clinical laboratories. We also discuss a variety of other mechanisms such as general controls on advertising and consumer law mechanisms.

Assessing mandatory HPV vaccination: who should call the shots?

In 2007, many legislatures considered, and two enacted, bills mandating HPV vaccination for young girls as a condition of school attendance. Such mandates raise significant legal, ethical, and social concerns. This paper argues that mandating HPV vaccination for minor females is premature since long-term safety and effectiveness of the vaccine has not been established, HPV does not pose imminent and significant risk of harm to others, a sex specific mandate raises constitutional concerns, and a mandate will burden financially existing government health programs and private physicians. Absent careful consideration and public conversation, HPV mandates may undermine coverage rates for other vaccines.

Pink or blue? The need for regulation is black and white.

A new direct-to-consumer genetic test purports to detect fetal gender as early as five weeks of pregnancy. The availability of this test highlights the consequences of the current system of oversight for genetic tests and underscores the need for an enhanced regulatory framework to ensure the accuracy, reliability, and validity of genetic tests.

Policy implications of genetic testing: not just for geneticists anymore.

Genetic testing is expanding rapidly to become part of mainstream medicine. While genetic tests bring with them the promise of improved diagnosis and treatment for patients, they also raise several policy challenges. These challenges include the lack of a coherent oversight system to ensure the quality of tests and testing laboratories, the rise of direct-to-consumer genetic testing, the dearth of professional guidelines to assist the transition of genetic tests from research to medical practice, and the absence of federal legislation to protect the privacy of genetic information and prevent genetic discrimination.