Improving access to exome sequencing in a medically underserved population through the Texome Project.

PURPOSE: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing. METHODS: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project. RESULTS: We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. Thus far, ES provided molecular diagnoses for 18 out of 60 (30%) of Texome participants. Plus, in 11 out of 60 (18%) participants, a partial or probable diagnosis was identified. Overall, 5 participants had a change in medical management. CONCLUSION: To date, the Texome Project has recruited a racially, ethnically, and socioeconomically diverse cohort. The diagnostic rate and medical impact in this cohort support the need for expanded access to genetic testing and services. The Texome Project will continue reducing barriers to genomic care throughout the future study years.

Upper-room ultraviolet light and negative air ionization to prevent tuberculosis transmission.

BACKGROUND: Institutional tuberculosis (TB) transmission is an important public health problem highlighted by the HIV/AIDS pandemic and the emergence of multidrug- and extensively drug-resistant TB. Effective TB infection control measures are urgently needed. We evaluated the efficacy of upper-room ultraviolet (UV) lights and negative air ionization for preventing airborne TB transmission using a guinea pig air-sampling model to measure the TB infectiousness of ward air. METHODS AND FINDINGS: For 535 consecutive days, exhaust air from an HIV-TB ward in Lima, Perú, was passed through three guinea pig air-sampling enclosures each housing approximately 150 guinea pigs, using a 2-d cycle. On UV-off days, ward air passed in parallel through a control animal enclosure and a similar enclosure containing negative ionizers. On UV-on days, UV lights and mixing fans were turned on in the ward, and a third animal enclosure alone received ward air. TB infection in guinea pigs was defined by monthly tuberculin skin tests. All guinea pigs underwent autopsy to test for TB disease, defined by characteristic autopsy changes or by the culture of Mycobacterium tuberculosis from organs. 35% (106/304) of guinea pigs in the control group developed TB infection, and this was reduced to 14% (43/303) by ionizers, and to 9.5% (29/307) by UV lights (both p < 0.0001 compared with the control group). TB disease was confirmed in 8.6% (26/304) of control group animals, and this was reduced to 4.3% (13/303) by ionizers, and to 3.6% (11/307) by UV lights (both p < 0.03 compared with the control group). Time-to-event analysis demonstrated that TB infection was prevented by ionizers (log-rank 27; p < 0.0001) and by UV lights (log-rank 46; p < 0.0001). Time-to-event analysis also demonstrated that TB disease was prevented by ionizers (log-rank 3.7; p = 0.055) and by UV lights (log-rank 5.4; p = 0.02). An alternative analysis using an airborne infection model demonstrated that ionizers prevented 60% of TB infection and 51% of TB disease, and that UV lights prevented 70% of TB infection and 54% of TB disease. In all analysis strategies, UV lights tended to be more protective than ionizers. CONCLUSIONS: Upper-room UV lights and negative air ionization each prevented most airborne TB transmission detectable by guinea pig air sampling. Provided there is adequate mixing of room air, upper-room UV light is an effective, low-cost intervention for use in TB infection control in high-risk clinical settings.

Effect of negative air ions on Escherichia coli ATCC 25922 inoculated onto mung bean seed and apple fruit.

The effect of negative air ions on the reduction of Escherichia coli ATCC 25922 inoculated onto mung bean sprout seed and whole or fresh-cut apple fruit was studied. Mung bean seeds, whole Gala apples, and Gala apple slices were inoculated with E. coli ATCC 25922 before being exposed to negative air ions for up to 18 h at room temperature (-23 degrees C). Results revealed a less than 0.5-log reduction of E. coli on mung bean seed even after 18 h of exposure. The reduction of E. coli on the surface of whole apples increased with increasing exposure time from 0.5 to 3 h, but the maximum reduction was less than 1 log CFU/g. Increasing exposure time from 3 to 18 h did not lead to increased treatment efficacy. No reduction of E. coli was observed on apple slices after 3 h of treatment. When the negative air ion system was applied with acetic acid vapor, no additive or synergistic effect of negative ions on the reduction of E. coli was found. These results suggest that negative air ions have a very limited effect on the population of E. coli on mung bean seed and apples.

Detection of airborne Salmonella enteritidis in the environment of experimentally infected laying hens by an electrostatic sampling device.

Bacteriologic culturing of environmental samples taken from sources such as manure pits and egg belts has been the principal screening tool in programs for identifying commercial laying flocks that have been exposed to Salmonella enteritidis and are thus at risk to produce contaminated eggs. Because airborne dust and aerosols can carry bacteria, air sampling offers a potentially efficient and inexpensive alternative for detecting S. enteritidis in poultry house environments. In the present study, an electrostatic air sampling device was applied to detect S. enteritidis in a room containing experimentally infected, caged laying hens. After oral inoculation of hens with a phage type 13a S. enteritidis strain, air samples were collected onto agar plates with the electrostatic sampling device, an impaction air sampler, and by passive exposure to the settling of aerosols and dust. Even though the floor of the room was cleaned once per week (removing most manure, dust, and feathers), air samples were positive for S. enteritidis for up to 4 wk postinoculation. On the basis of both the number of S. enteritidis colonies observed on incubated agar plates and the frequency of positive results, the efficiency of the electrostatic device was significantly greater than that of the passive exposure plates (especially at short collection intervals) and was similar to that of the far more expensive impaction sampler. The electrostatic device, used for a 3-hr sampling interval, detected airborne S. enteritidis on 75% of agar plates over the 4 wk of the study.