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.

Access to human biospecimens is widely regarded as essential to the progress of medical research, and in particular, to the success of “personalized medicine.” Understanding the influence of genetic variation on human health and disease requires that researchers conduct genetic and other studies on thousands of human specimens. Over the past decade, human “biobanks” — vast collections of human biospecimens — have proliferated both in the United States and internationally. These biobanks are subject to a heterogeneous mix of standards that (...) govern the collection and use of biospecimens. (shrink)

Since the first draft of the human genome was published in 2001, DNA sequencing technology has advanced at a remarkable pace. Launched in 1990, the Human Genome Project sought to sequence all three billion base pairs of the haploid human genome, an endeavor that took more than a decade and cost nearly three billion dollars. The subsequent development of so-called “next generation” sequencing methods has raised the possibility that real-time, affordable genome sequencing will soon be widely available. Currently, NGS methods (...) can be used to sequence up to 60 billion base pairs per day. Whole-genome sequencing costs an estimated $5,000-10,000, with that number predicted to fall to $1000 in the near future.In the past few years, the availability of high-throughput NGS methods has led to a proliferation of potential and actual clinical applications for NGS. NGS therefore has the potential to usher in the long-awaited era of personalized medicine. (shrink)

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

The human papillomavirus is the most common sexually transmitted infection worldwide. In the United States, more than six million people are infected each year. Although most HPV infections are benign, two strains of HPV cause 70 percent of cervical cancer cases. Two other strains of HPV are associated with 90 percent of genital warts cases.In June 2006, the Food and Drug Administration approved the first vaccine against HPV. Sold as Gardasil, the quadrivalent vaccine is intended to prevent four strains of (...) HPV associated with cervical cancer, precancerous genital lesions, and genital warts. Following FDA approval, the national Advisory Committee on Immunization Practices recommended routine vaccination for girls ages 11-12 with three doses of quadrivalent HPV vaccine. Thereafter, state legislatures around the country engaged in an intense effort to pass laws mandating vaccination of young girls against HPV. This activity was spurred in part by an intense lobbying campaign by Merck, the manufacturer of the vaccine. (shrink)

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. (shrink)