title: Regulatory changes raise troubling questions for genomic testing.
abstract: By 6 October 2014, many laboratories in the United States must begin honoring new individual data access rights created by recent changes to federal privacy and laboratory regulations. These access rights are more expansive than has been widely understood and pose complex challenges for genomic testing laboratories. This article analyzes regulatory texts and guidances to explore which laboratories are affected. It offers the first published analysis of which parts of the vast trove of data generated during next-generation sequencing will be accessible to patients and research subjects. Persons tested at affected laboratories seemingly will have access, upon request, to uninterpreted gene variant information contained in their stored variant call format, binary alignment/map, and FASTQ files. A defect in the regulations will subject some non-CLIA-regulated research laboratories to these new access requirements unless the Department of Health and Human Services takes swift action to avert this apparently unintended consequence. More broadly, all affected laboratories face a long list of daunting operational, business, compliance, and bioethical issues as they adapt to this change and to the Food and Drug Administration's recently announced plan to publish draft guidance outlining a new oversight framework for lab-developed tests.
authors.affiliation: Center for Biotechnology and Law, University of Houston Law Center, Houston, Texas, USA.
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Evans
authors.affiliation: 1] Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA [2] Department of Pathology, University of Washington, Seattle, Washington, USA.
authors.forename: Michael O
authors.initials: MO
authors.lastname: Dorschner
authors.affiliation: Department of Bioethics and Humanities, University of Washington, Seattle, Washington, USA.
authors.forename: Wylie
authors.initials: W
authors.lastname: Burke
authors.affiliation: 1] Department of Medicine/Medical Genetics , University of Washington, Seattle, Washington, USA [2] Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
mesh_terms: D005820:Genetic Testing / Q000331:legislation & jurisprudence*; D020408:Health Insurance Portability and Accountability Act / Q000331:legislation & jurisprudence; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007753:Laboratories / Q000331:legislation & jurisprudence*; D033283:Patient Access to Records / Q000331:legislation & jurisprudence*; D017410:Practice Guidelines as Topic; D017422:Sequence Analysis, DNA; D014481:United States