Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding

10.1186/s13073-014-0058-6Genome Medicine675

Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation

Identifying unaffected women with a BRCA mutation can have a significant individual and population health impact on morbidity and mortality if these women adhere to guidelines for managing cancer risk. But, little is known about whether such women are adherent to current guidelines. We conducted telephone surveys of 97 unaffected BRCA mutation carriers who had genetic counseling at least one year prior to the survey to assess adherence to current guidelines, factors associated with adherence, and common reasons for performing and not performing recommended risk management. More than half of participants reported being adherent with current risk management recommendations for breast cancer (69%, n=67), ovarian cancer (82%, n=74) and both cancers (66%, n=64). Older age (OR=10.53, p=0.001), white race (OR=8.93, p=0.019), higher breast cancer genetics knowledge (OR=1.67, p=0.030), higher cancer-specific distress (OR=1.07, p=0.002) and higher physical functioning (OR=1.09, p=0.009) were significantly associated with adherence to recommended risk management for both cancers. Responses to open-ended questions about reasons for performing and not performing risk management behaviors indicated that participants recognized the clinical utility of these behaviors. Younger individuals and those with lower physical functioning may require targeted interventions to improve adherence, perhaps in the setting of long-term follow-up at a multi-disciplinary hereditary cancer clinic

A Spitzer IRS Spectral Atlas of Luminous 8 micron Sources in the Large Magellanic Cloud

We present an atlas of Spitzer Space Telescope Infrared Spectrograph (IRS) spectra of highly luminous, compact mid-infrared sources in the Large Magellanic Cloud. Sources were selected on the basis of infrared colors and 8 micron (MSX) fluxes indicative of highly evolved, intermediate- to high-mass stars with current or recent mass loss at large rates. We determine the chemistry of the circumstellar envelope from the mid-IR continuum and spectral features and classify the spectral types of the stars. In the sample of 60 sources, we find 21 Red Supergiants (RSGs), 16 C-rich Asymptotic Giant Branch (AGB) stars, 11 HII regions, 4 likely O-rich AGB stars, 4 Galactic O-rich AGB stars, 2 OH/IR stars, and 2 B[e] supergiants with peculiar IR spectra. We find that the overwhelming majority of the sample AGB stars (with typical IR luminosities ~1.0E4 L_sun) have C-rich envelopes, while the O-rich objects are predominantly luminous RSGs with L_IR ~ 1.0E5 L_sun. We determine mean bolometric corrections to the stellar K-band flux densities and find that for carbon stars, the bolometric corrections depend on the infrared color, whereas for RSGs, the bolometric correction is independent of IR color. Our results reveal that objects previously classified as PNe on the basis of IR colors are in fact compact HII regions with very red IRS spectra that include strong atomic recombination lines and PAH emission features. We demonstrate that the IRS spectral classes in our sample separate clearly in infrared color-color diagrams that use combinations of 2MASS data and synthetic IRAC/MIPS fluxes derived from the IRS spectra. On this basis, we suggest diagnostics to identify and classify, with high confidence levels, IR-luminous evolved stars and HII regions in nearby galaxies using Spitzer and near-infrared photometry.Comment: 46 pages, 9 figures; accepted for publication in AJ; abstract abridge

Daily life stress and the cortisol awakening response : testing the anticipation hypothesis

Acknowledgments We thank Paul Stewart for his contribution to data collection and Dr Matthew Jones for programming the handheld computers. Author Contributions Conceived and designed the experiments: WS DJP. Performed the experiments: DJP. Analyzed the data: WS. Wrote the paper: WS DJP.Peer reviewedPublisher PD

Randomized trial of DVD, telephone, and usual care for increasing mammography adherence

The purpose of this study was to test an intervention to increase mammography screening in women 51-75 years of age who had not received a mammogram in the last 15 months. A total of 1681 women were randomized to (1) a mailed tailored interactive DVD, (2) a computer-tailored telephone counseling, or (3) usual care. Women with income below US$75,000 who were in the interactive DVD group had significantly more mammograms than women in usual care. Women with income above US$75,000 had significantly fewer mammograms than women with income less than US$75,000 regardless of group. Further investigation is needed to understand why women with income above US$75,000 did not show the same benefit of the intervention

Science and Ideology in Economic, Political, and Social Thought

This paper has two sources: One is my own research in three broad areas: business cycles, economic measurement and social choice. In all of these fields I attempted to apply the basic precepts of the scientific method as it is understood in the natural sciences. I found that my effort at using natural science methods in economics was met with little understanding and often considerable hostility. I found economics to be driven less by common sense and empirical evidence, then by various ideologies that exhibited either a political or a methodological bias, or both. This brings me to the second source: Several books have appeared recently that describe in historical terms the ideological forces that have shaped either the direct areas in which I worked, or a broader background. These books taught me that the ideological forces in the social sciences are even stronger than I imagined on the basis of my own experiences. The scientific method is the antipode to ideology. I feel that the scientific work that I have done on specific, long standing and fundamental problems in economics and political science have given me additional insights into the destructive role of ideology beyond the history of thought orientation of the works I will be discussing

Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system

<p>Abstract</p> <p>Background</p> <p>The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research) framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina.</p> <p>Methods/Design</p> <p>The family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome).</p> <p>Discussion</p> <p>This study integrates a computerized family health history system within the context of a routine well-visit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers. Results of the implementation process, its acceptability to patients and providers, modifications necessary to optimize the system, and impact on clinical care can serve to guide future implementation projects for both family history and other tools of personalized medicine, such as health risk assessments.</p

Measurement of the νμcharged current quasielastic cross section on carbon with the T2K on-axis neutrino beam

We report a measurement of the νμcharged current quasielastic cross-sections on carbon in the T2K on-axis neutrino beam. The measured charged current quasielastic cross-sections on carbon at mean neutrino energies of 1.94 GeVand 0.93 GeVare (11.95 ± 0.19(stat)-1.47+1.82(syst)) × 10-39cm2/neutron, and (10.64 ± 0.37(stat)-1.65+2.03(syst)) × 10-39cm2/neutron, respectively. These results agree well with the predictions of neutrino interaction models. In addition, we investigated the effects of the nuclear model and the multi-nucleon interaction

Measurement of the electron neutrino charged-current interaction rate on water with the T2K ND280 π0 detector

This paper presents a measurement of the charged current interaction rate of the electron neutrino beam component of the beam above 1.5 GeV using the large fiducial mass of the T2K π0 detector. The predominant portion of the νe flux (∼85%) at these energies comes from kaon decays. The measured ratio of the observed beam interaction rate to the predicted rate in the detector with water targets filled is 0.89±0.08(stat)±0.11(sys), and with the water targets emptied is 0.90±0.09(stat)±0.13(sys). The ratio obtained for the interactions on water only from an event subtraction method is 0.87±0.33(stat)±0.21(sys). This is the first measurement of the interaction rate of electron neutrinos on water, which is particularly of interest to experiments with water Cherenkov detectors