It has been over 20 years since the inception of predictive testing for Huntington disease (HD), yet the social implications of knowing one's genetic risk for HD have not been fully explored. Genetic discrimination (GD) is a potential risk associated with predictive testing. Although anecdotal reports of GD have been documented, there is a paucity of research on the nature and experiences of GD in the context of HD. The purpose of this study was to describe the concerns and experiences of GD in the HD community. Semistructured interviews were conducted with 45 genetically tested and 10 untested individuals and analyzed using grounded theory methods. Our findings demonstrate that a majority of individuals were concerned about (37/55) and experienced GD (32/55) across a variety of contexts that extend beyond the traditionally examined contexts of insurance and employment to include family, social, government, and health-care domains. We describe a process of engagement with GD in which individuals formed meaningful interpretations of GD and personalized its risk and consequences in their lives. Our findings provide an insight into some of the specific processes and factors influencing engagement with GD. These results help identify areas where more education and support is needed and provide direction to genetic professionals supporting their clients as they confront issues of GD and genetic testing.
The Sloan Digital Sky Survey III's Apache Point Observatory Galactic Evolution Experiment (APOGEE) is a high-resolution near-infrared spectroscopic survey covering all of the major components of the Galaxy, including the dust-obscured regions of the inner Milky Way disk and bulge. Here we present a sample of 10,341 likely red-clump stars (RC) from the first two years of APOGEE operations, selected based on their position in color-metallicity-surface-gravity-effective-temperature space using a new method calibrated using stellar evolution models and high-quality asteroseismology data. The narrowness of the RC locus in color-metallicity-luminosity space allows us to assign distances to the stars with an accuracy of 5%-10%. The sample extends to typical distances of about 3 kpc from the Sun, with some stars out to 8 kpc, and spans a volume of approximately 100 kpc(3) over 5 kpc less than or similar to R less than or similar to 14 kpc, vertical bar Z vertical bar less than or similar to 2 kpc, and -15 degrees less than or similar to Galactocentric azimuth less than or similar to 30 degrees. The APOGEE red-clump (APOGEE-RC) catalog contains photometry from the Two Micron All Sky Survey, reddening estimates, distances, line-of-sight velocities, stellar parameters and elemental abundances determined from the high-resolution APOGEE spectra, and matches to major proper motion catalogs. We determine the survey selection function for this data set and discuss how the RC selection samples the underlying stellar populations. We use this sample to limit any azimuthal variations in the median metallicity within the approximate to 45 degrees azimuthal region covered by the current sample to be <= 0.02 dex, which is more than an order of magnitude smaller than the radial metallicity gradient. This result constrains coherent non-axisymmetric flows within a few kiloparsecs from the Sun. ; NASA through Space Telescope Science Institute HST-HF-51285.01 ; NASA NAS5-26555, NNX13AE70G ; McLaughlin Fellowship at the University of Michigan ; European Research Council under the European Union 321035 ; NSF AST-1105930, AST-1311835 ; CNPq-Brazil ; Physics Frontier Center/Joint Institute for Nuclear Astrophysics (JINA) - U.S. National Science Foundation PHY 08-22648 ; Danish National Research Foundation DNRF106 ; Spanish Ministry of Economy and Competitiveness AYA-2011-27754 ; European Research Council under the European Community 338251 ; Deutsche Forschungsgemeinschaft (DFG) SFB 963/1 ; ASTERISK project (ASTERoseismic Investigations with SONG and Kepler) - European Research Council 267864 ; MICINN AYA2011-24704 ; Alfred P. Sloan Foundation ; U.S. Department of Energy Office of Science ; University of Arizona ; Brookhaven National Laboratory ; Carnegie Mellon University ; University of Florida ; Harvard University ; Instituto de Astrofisica de Canarias ; Johns Hopkins University ; Lawrence Berkeley National Laboratory ; Max Planck Institute for Astrophysics ; Max Planck Institute for Extraterrestrial Physics ; New Mexico State University ; New York University ; Ohio State University ; Pennsylvania State University ; University of Portsmouth ; Princeton University ; University of Tokyo ; University of Utah ; Vanderbilt University ; University of Virginia ; University of Washington ; Yale University ; McDonald Observatory
