Possibly pathogenic bacteria in aerosols and foams as a result of aeration remediation in a polluted urban waterway.

Newtown Creek is a tributary of the Hudson River Estuary. It has a legacy of both industrial pollution and sewage pollution and has been designated a Superfund site. To ameliorate the chronically low levels of dissolved oxygen detected in the Creek, the New York City Department of Environmental Protection has been installing aerators. The abundance of various bacteria in the aerosols, foams, and water, at two sites in the Creek, was studied before, during, and after the aeration process. Additionally, aerosols and dispersed foams created by the aeration process were sampled and cultured to determine what unique taxa of bacteria could be grown and identified. Taxa including Actinobacteria and Firmicutes were prevalent in cultures taken from aerosols, whereas Gammaproteobacteria were prevalent in cultures taken from foam. Campylobacteria was found to have a significant presence in both samples taken after the aerators were turned off. These taxa include potentially pathogenic bacteria and are therefore of particular concern.

Sensitivity of Clarireedia spp. to benzimidazoles and dimethyl inhibitors fungicides and efficacy of biofungicides on dollar spot of warm season turfgrass.

Dollar spot caused by Clarireedia spp. (formerly Sclerotinia homoeocarpa) is an economically destructive fungal disease of turfgrass that can significantly compromise turf quality, playability, and aesthetic value. Fungicides are frequently used to manage the disease but are costly and potentially unfavorable to the environment. Repeated use of some active ingredients has resulted in reduced efficacy on C. jacksonii causing dollar spot in cool-season turfgrasses in the US. Experiments were conducted to study fungicide sensitivity of Clarireedia spp. as well as to develop alternatives to fungicides against dollar spot on warm-season turfgrass in Georgia. First, 79 isolates of Clarireedia spp. collected across the state were tested on fungicide-amended agar plates for their sensitivity to thiophanate-methyl (benzimidazole) and propiconazole (dimethyl inhibitor). Seventy-seven isolates (97.5%) were sensitive (0.001 to 0.654 µg/mL) and two isolates (2.5%) were found resistant (>1000 µg/mL) to thiophanate-methyl. However, in the case of propiconazole, 27 isolates (34.2%) were sensitive (0.005 to 0.098 µg/mL) while 52 isolates (65.8%) were resistant (0.101 to 3.820 µg/mL). Next, the efficacy of three bio- and six synthetic fungicides and ten different combinations were tested in vitro against C. monteithiana. Seven bio- and synthetic fungicide spray programs comprising Bacillus subtilis QST713 and propiconazole were further tested, either alone or in a tank mix in a reduced rate, on dollar spot infected bermudagrass 'TifTuf' in growth chamber and field environments. These fungicides were selected as they were found to significantly reduce pathogen growth up to 100% on in vitro assays. The most effective spray program in growth chamber assays was 100% B. subtilis QST713 in rotation with 75% B. subtilis QST713 + 25% propiconazole tank mix applied every 14 days. However, the stand-alone application of the biofungicide B. subtilis QST713 every seven days was an effective alternative and equally efficacious as propiconazole, suppressing dollar spot severity and AUDPC up to 75%, while resulting in acceptable turf quality (>7.0) in field experiments. Our study suggests that increased resistance of Clarireedia spp. to benzimidazoles and dimethyl inhibitors warrants continuous surveillance and that biofungicides hold promise to complement synthetic fungicides in an efficacious and environmentally friendly disease management program.

Opportunities to improve the impact of two national clinical audit programmes: a theory-guided analysis.

BACKGROUND: Audit and feedback is widely used in healthcare improvement, with evidence of modest yet potentially important effects upon professional practice. There are approximately 60 national clinical audit programmes in the UK. These programmes often develop and adapt new ways of delivering feedback to optimise impacts on clinical practice. Two such programmes, the National Diabetes Audit (NDA) and the Trauma Audit Research Network (TARN), recently introduced changes to their delivery of feedback. We assessed the extent to which the design of these audit programmes and their recent changes were consistent with best practice according to the Clinical Performance Feedback Intervention Theory (CP-FIT). This comprehensive framework specifies how variables related to the feedback itself, the recipient, and the context operate via explanatory mechanisms to influence feedback success. METHODS: We interviewed 19 individuals with interests in audit and feedback, including researchers, audit managers, healthcare staff, and patient and public representatives. This range of expert perspectives enabled a detailed exploration of feedback from the audit programmes. We structured interviews around the CP-FIT feedback cycle and its component processes (e.g. Data collection and analysis, Interaction). Our rapid analytic approach explored the extent to which both audits applied features consistent with CP-FIT. RESULTS: Changes introduced by the audit programmes were consistent with CP-FIT. Specifically, the NDA's increased frequency of feedback augmented existing strengths, such as automated processes (CP-FIT component: Data collection and analysis) and being a credible source of feedback (Acceptance). TARN's new analytic tool allowed greater interactivity, enabling recipients to interrogate their data (Verification; Acceptance). We also identified scope for improvement in feedback cycles, such as targeting of feedback recipients (Interaction) and feedback complexity (Perception) for the NDA and specifying recommendations (Intention) and demonstrating impact (Clinical performance improvement) for TARN. CONCLUSIONS: The changes made by the two audit programmes appear consistent with suggested best practice, making clinical improvement more likely. However, observed weaknesses in the feedback cycle may limit the benefits of these changes. Applying CP-FIT via a rapid analysis approach helps identify strengths and remediable weaknesses in the design of audit programmes that can be shared with them in a timely manner.

Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy.

There are growing numbers of adults with Duchenne Muscular Dystrophy living well into their fourth decade. These patients have complex medical needs that to date have not been addressed in the International standards of care. We sought to create a consensus based standard of care through a series of multi-disciplinary workshops with specialists from a wide range of clinical areas: Neurology, Cardiology, Respiratory Medicine, Gastroenterology, Endocrinology, Palliative Care Medicine, Rehabilitation, Renal, Anaesthetics and Clinical Psychology. Detailed reports of evidence reviewed and the consensus building process were produced following each workshop and condensed into this final document which was approved by all members of the Adult North Star Network including service users. The aim of this document is to provide a framework to improve clinical services and multi-disciplinary care for adults living with Duchenne Muscular Dystrophy.

Noninvasive Monitoring of Mantle Cell Lymphoma by Immunoglobulin Gene Next-Generation Sequencing in a Phase 2 Study of Sequential Chemoradioimmunotherapy Followed by Autologous Stem-Cell Rescue.

BACKGROUND: Minimal residual disease (MRD) monitoring has been used to identify early molecular relapse and predict clinical relapse in mantle cell lymphoma (MCL). Few published data exist in MCL on the performance of next-generation sequencing-based assay of immunoglobulin gene rearrangements for MRD assessment. PATIENTS AND METHODS: In a prospective clinical trial (NCT01484093) with intensive induction chemotherapy and autologous stem-cell transplantation, posttreatment peripheral blood samples were collected from 16 MCL patients and analyzed with an earlier version of the Adaptive Biotechnologies MRD assay. RESULTS: Of the 7 patients whose disease remained in remission, the MRD test remained negative in 5 (71%). Of the 9 patients who experienced relapse, the MRD test was positive at least 3 months before relapse in 6 patients (67%) and positive at the time of relapse in 1 patient (11%). All patients with at least 2 positive MRD tests experienced relapse. CONCLUSION: The next-generation sequencing-based MRD assay identified early molecular relapse, and we observed more sensitivity in the cellular (circulating leukocytes) versus acellular (plasma cell-free DNA) compartment. This observation may be due to availability of tumor target or a limitation of the assay.

Incorporating hydrology into climate suitability models changes projections of malaria transmission in Africa.

Continental-scale models of malaria climate suitability typically couple well-established temperature-response models with basic estimates of vector habitat availability using rainfall as a proxy. Here we show that across continental Africa, the estimated geographic range of climatic suitability for malaria transmission is more sensitive to the precipitation threshold than the thermal response curve applied. To address this problem we use downscaled daily climate predictions from seven GCMs to run a continental-scale hydrological model for a process-based representation of mosquito breeding habitat availability. A more complex pattern of malaria suitability emerges as water is routed through drainage networks and river corridors serve as year-round transmission foci. The estimated hydro-climatically suitable area for stable malaria transmission is smaller than previous models suggest and shows only a very small increase in state-of-the-art future climate scenarios. However, bigger geographical shifts are observed than with most rainfall threshold models and the pattern of that shift is very different when using a hydrological model to estimate surface water availability for vector breeding.

Negative relationships between species richness and temporal variability are common but weak in natural systems.

Effects of species diversity on population and community stability (or more precisely, the effects of species richness on temporal variability) have been studied for several decades, but there have been no large-scale tests in natural communities of predictions from theory. We used 91 data sets including plants, fish, small mammals, zooplankton, birds, and insects, to examine the relationship between species richness and temporal variability in populations and communities. Seventy-eight of 91 data sets showed a negative relationship between species richness and population variability; 46 of these relationships were statistically significant. Only five of the 13 positive richness-population variability relationships were statistically significant. Similarly, 51 of 91 data sets showed a negative relationship between species richness and community variability; of these, 26 were statistically significant. Seven of the 40 positive richness-community-variability relationships were statistically significant. We were able to test transferability (i.e., the predictive ability of models for sites that are spatially distinct from sites that were used to build the models) for 69 of 91 data sets; 35 and 31 data sets were transferable at the population and community levels, respectively. Only four were positive at the population level, and two at the community level. We conclude that there is compelling evidence of a negative relationship between species richness and temporal variability for about one-half of the ecological communities we examined. However, species richness explained relatively little of the variability in population or community abundances and resulted in small improvements in predictive ability.

Diffusion mechanism in the sodium-ion battery material sodium cobaltate.

High performance batteries based on the movement of Li ions in Li x CoO2 have made possible a revolution in mobile electronic technology, from laptops to mobile phones. However, the scarcity of Li and the demand for energy storage for renewables has led to intense interest in Na-ion batteries, including structurally-related Na x CoO2. Here we have determined the diffusion mechanism for Na0.8CoO2 using diffuse x-ray scattering, quasi-elastic neutron scattering and ab-initio molecular dynamics simulations, and we find that the sodium ordering provides diffusion pathways and governs the diffusion rate. Above T ~ 290 K the so-called partially disordered stripe superstructure provides channels for quasi-1D diffusion, and melting of the sodium ordering leads to 2D superionic diffusion above T ~ 370 K. We obtain quantitative agreement between our microscopic study of the hopping mechanism and bulk self-diffusion measurements. Our approach can be applied widely to other Na- or Li-ion battery materials.

Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c.-5413 to approximately - c.-49. This matches the sequence of 32 nucleotides at positions c.*218-*249 in the 3'UTR downstream of the GJB1 gene. The deleted fragment included the entire P2 promoter region. The deletion segregated with the disease. To our knowledge a deletion of the P2 promoter alone as a cause of CMT has not been reported previously.

Prevalence and impact of obesity in people with haemophilia: Review of literature and expert discussion around implementing weight management guidelines.

Obesity affects more than 35% of Americans, increasing the risk of more than 200 comorbid conditions, impaired quality of life and premature mortality. This review aimed to summarize literature published over the past 15 years regarding the prevalence and impact of obesity in people with haemophilia (PWH) and to discuss implementing general guidelines for weight management in the context of the haemophilia comprehensive care team. Although few studies have assessed the effects of obesity on haemophilia-specific outcomes, existing evidence indicates an important impact of weight status on lower extremity joint range of motion and functional disability, with potentially important effects on overall quality of life. Data regarding bleeding tendency in PWH with coexisting obesity are largely inconclusive; however, some individuals may experience reduced joint bleeds following moderate weight loss. Additionally, conventional weight-based dosing of factor replacement therapy leads to increased treatment costs for PWH with obesity or overweight, suggesting pharmacoeconomic benefits of weight loss. Evidence-based recommendations for weight loss include behavioural strategies to reduce caloric intake and increase physical activity, pharmacotherapy and surgical therapy in appropriate patients. Unique considerations in PWH include bleed-related risks with physical activity; thus, healthcare professionals should advise patients on types and intensities of, and approaches to, physical activity, how to adjust treatment to accommodate exercise and how to manage potential activity-related bleeding. Increasing awareness of these issues may improve identification of PWH with coexisting obesity and referral to appropriate specialists, with potentially wide-ranging benefits in overall health and well-being.

Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.

Four and a half LIM protein 1 (FHL1/SLIM1) has recently been identified as the causative gene mutated in four distinct diseases affecting skeletal muscle that have overlapping features, including reducing body myopathy, X-linked myopathy, X-linked dominant scapuloperoneal myopathy and Emery-Dreifuss muscular dystrophy. FHL1 localises to the sarcomere and the sarcolemma and is believed to participate in muscle growth and differentiation as well as in sarcomere assembly. We describe in this case report a boy with a deletion of the entire FHL1 gene who is now 15 years of age and presented with muscle hypertrophy, reduced subcutaneous fat, rigid spine and short stature. This case is the first, to our knowledge, with a complete loss of the FHL1 protein and MAP7D3 in combination. It supports the theory that dominant negative effects (accumulation of cytotoxic-mutated FHL1 protein) worsen the pathogenesis. It extends the phenotype of FHL1-related myopathies and should prompt future testing in undiagnosed patients who present with unexplained muscle hypertrophy, contractures and rigid spine, particularly if male.

The impact of HENRY on parenting and family lifestyle: A national service evaluation of a preschool obesity prevention programme.

OBJECTIVES: One in five children in England are overweight/obese at school entry. Tackling obesity is therefore a priority. Right from the Start with HENRY is a widely-commissioned programme delivered by trained facilitators to small groups of parents over eight weekly sessions. It is designed to provide parents of infants and preschool children with the skills, knowledge and confidence required for a healthier family lifestyle. The aim of this work was to investigate programme impact using data collected routinely for quality control purposes. STUDY DESIGN: Analysis of routinely collected pre-post data from programmes delivered in the UK from January 2012 to February 2014. METHODS: Data were analysed from 144 programmes, including questionnaires relating to parenting, family eating behaviours, dietary intake, and physical activity/screen time. RESULTS: Over 24 months, 1100 parents attended programmes running in 86 locations. 788 (72%) completed >5 sessions of whom 624 (79%) provided baseline and completion questionnaires. Parents reported increases in healthiness of family lifestyle, parenting attributes, and emotional wellbeing following attendance (all P < .001). Both parents and children were reported to have increased their daily fruit/vegetable consumption, and reduced their consumption of high fat/sugar foods (both P < .001). There were also positive changes in eating behaviours, physical activity (P < .001) and children's screen time (P < .001). CONCLUSIONS: Significant changes were reported in all domains similar to those reported in a previous, smaller study in locations selected for experience and quality. The HENRY approach appears to have a beneficial impact even when delivered at scale in non-selected locations. Such changes, if maintained, may serve to protect against later obesity.

Chronic kidney disease predicts long-term mortality after major lower extremity amputation.

BACKGROUND: Despite low peri-operative mortality after major lower extremity amputation, long-term mortality remains substantial. Metabolic syndrome is increasing in incidence and prevalence at an alarming rate in the USA. AIM: This study was to determine whether metabolic syndrome predicts outcome after major lower extremity amputation. PATIENTS AND METHODS: A retrospective review of charts between July 2005 and June 2010. RESULTS: Fifty-four patients underwent a total of 60 major lower extremity amputations. Sixty percent underwent below-knee amputation and 40% underwent above-knee amputation. The 30-day mortality was 7% with no difference in level (below-knee amputation, 8%; above-knee amputation, 4%; P = 0.53). The mean follow-up time was 39.7 months. The 5-year survival was 54% in the whole group, and was independent of level of amputation (P = 0.24) or urgency of the procedure (P = 0.51). Survival was significantly decreased by the presence of underlying chronic kidney disease (P = 0.04) but not by other comorbidities (history of myocardial infarction, P = 0.79; metabolic syndrome, P = 0.64; diabetes mellitus, P = 0.56). CONCLUSION: Metabolic syndrome is not associated with increased risk of adverse outcomes after lower extremity amputation. However, patients with chronic kidney disease constitute a sub-group of patients at higher risk of postoperative long-term mortality and may be a group to target for intervention.

Metabolic syndrome predicts restenosis after carotid endarterectomy.

BACKGROUND: Carotid endarterectomy (CEA) is an effective surgical option for stroke prophylaxis for most patients. Restenosis after CEA can lead to additional interventions and adverse outcomes, but the factors that predict restenosis are poorly understood. This study examined which risk factors, such as metabolic syndrome (MetS), are associated with restenosis after CEA. STUDY DESIGN: This retrospective study examined the records of all patients who underwent CEA at the Veterans Affairs Connecticut Healthcare System during a 4-year period. Metabolic syndrome was defined as the presence of 3 or more of the following: hypertension (blood pressure ≥130 mmHg/≥85 mmHg); serum triglycerides ≥150 mg/dL; high-density lipoprotein ≤40 mg/dL; BMI ≥25 kg/m(2); and fasting blood glucose ≥110 mg/dL. Major adverse events were defined as death, stroke, or MI. Restenosis was defined as >50% stenosis on follow-up imaging. RESULTS: Seventy-eight patients underwent 79 CEAs during the study period. All patients were male and 76% were white. Mean patient age was 72.6 years. The mean duration of follow-up was 5.2 years. Sixty-seven percent of patients had MetS. Patients with MetS were comparable with those without MetS in demographics and preoperative comorbidities, except for increased hypertension and diabetes, as expected, and chronic renal insufficiency (p = 0.05). There was no significant difference in long-term survival or freedom from MAE between patients with and without MetS. Restenosis was significantly higher in patients with MetS (p = 0.02) and occurred 2 years after CEA in patients with MetS only, with a large increase in restenosis after 5 years (p = 0.018). MetS was an independent predictor of restenosis in multivariable analysis (p = 0.01). CONCLUSIONS: Metabolic syndrome is an independent predictor for restenosis after CEA in a high-risk population. More frequent and/or long-term surveillance might be warranted in patients with MetS after CEA.

Vein graft adaptation and fistula maturation in the arterial environment.

Veins are exposed to the arterial environment during two common surgical procedures, creation of vein grafts and arteriovenous fistulae (AVF). In both cases, veins adapt to the arterial environment that is characterized by different hemodynamic conditions and increased oxygen tension compared with the venous environment. Successful venous adaptation to the arterial environment is critical for long-term success of the vein graft or AVF and, in both cases, is generally characterized by venous dilation and wall thickening. However, AVF are exposed to a high flow, high shear stress, low-pressure arterial environment and adapt mainly via outward dilation with less intimal thickening. Vein grafts are exposed to a moderate flow, moderate shear stress, high-pressure arterial environment and adapt mainly via increased wall thickening with less outward dilation. We review the data that describe these differences, as well as the underlying molecular mechanisms that mediate these processes. Despite extensive research, there are few differences in the molecular pathways that regulate cell proliferation and migration or matrix synthesis, secretion, or degradation currently identified between vein graft adaptation and AVF maturation that account for the different types of venous adaptation to arterial environments.

Combating child obesity: impact of HENRY on parenting and family lifestyle.

BACKGROUND: One-quarter of children in England are overweight/obese at school entry. We investigated the impact of a programme designed to provide parents of infants and preschool children with the skills required for a healthier family lifestyle. METHOD: A cohort of families was followed across the 8-week HENRY (Health Exercise Nutrition for the Really Young) parent course at nine locations in England. Seventy-seven parents enrolled on the course, of which 71 agreed to complete questionnaires addressing eating behaviours, dietary intake and parental self-efficacy. Pre- and post-course data was available from 60 (84.5%) parents (8-week follow-up data from 58 parents) and was analysed using repeated measures analyses. RESULTS: Significant changes were observed, with most sustained at follow-up. Parents reported increased self-efficacy and ability to encourage good behaviour (P < 0.001). Increased consumption of fruits and vegetables was reported in both children and adults, together with reduced consumption of sweets, cakes and fizzy drinks in adults (all P < 0.01). There were also positive changes in eating behaviours (e.g., frequency of family mealtimes and eating while watching television or in response to negative emotion [P < 0.01] ) and reduced screen time in adults (P < 0.001). DISCUSSION: The results build upon earlier evaluation, indicating that the HENRY intervention has a beneficial impact upon the families of infants and preschool children. Furthermore, the findings suggest that positive changes inspired by the programme can be maintained beyond its completion. Such changes may serve to protect against later obesity.

Metabolic syndrome is associated with type II endoleak after endovascular abdominal aortic aneurysm repair.

OBJECTIVE: Type II endoleak is usually a benign finding after endovascular abdominal aortic aneurysm repair (EVAR). In some patients, however, type II endoleak leads to aneurysm sac expansion and the need for further intervention. We examined which factors, in particular the components of metabolic syndrome (MetS), would lead to an increase risk of endoleak after EVAR. METHODS: The medical records of all patients who underwent EVAR between 2002 and 2011 at the Veterans Affairs Connecticut Healthcare System were reviewed. MetS was defined as the presence of three or more of the following: hypertension (blood pressure ≥130 mm Hg/≥90 mm Hg), serum triglycerides ≥150 mg/dL, serum high-density lipoproteins ≤50 mg/dL for women and ≤40 mg/dL for men, body mass index ≥30 kg/m(2), and fasting blood glucose ≥110 mg/dL. Development of endoleak, including specific endoleak type, was determined by review of standard radiologic surveillance. RESULTS: During a 9-year period, 79 male patients (mean age, 73.5 years), underwent EVAR for infrarenal abdominal aortic aneurysm (mean 6.2 cm maximal transverse diameter). MetS was present in 52 patients (66%). The distribution of MetS factors among all patients was hypertension in 86%, hypertriglyceridemia in 72%, decreased high-density lipoprotein in 68%, diabetes in 37%, and a body mass index of ≥30 kg/m(2) in 30%. No survival difference was found between the MetS and non-MetS groups (P = .66). There was no difference in perioperative myocardial infarction or visceral ischemia immediately postoperatively between the two groups. Patients with MetS had a significant increase in acute kidney injury (n = 7, P = .0128). Endoleaks of all types were detected in 26% (n = 20) of all patients; patients with MetS had more endoleaks than patients without MetS (35% vs 7.4%, P = .0039). Of the 19 type II endoleaks, 79% were present at the time of EVAR and only 21% developed during surveillance; 95% had MetS (P = .0007). CONCLUSIONS: Type II endoleak after EVAR for abdominal aortic aneurysm is associated with MetS. Whether these patients are subject to more subsequent intervention due to sac expansion is unclear. MetS may be a factor to consider in the treatment of type II endoleak.

The mouse aortocaval fistula recapitulates human arteriovenous fistula maturation.

Several models of arteriovenous fistula (AVF) have excellent patency and help in understanding the mechanisms of venous adaptation to the arterial environment. However, these models fail to exhibit either maturation failure or fail to develop stenoses, both of which are critical modes of AVF failure in human patients. We used high-resolution Doppler ultrasound to serially follow mice with AVFs created by direct 25-gauge needle puncture. By day 21, 75% of AVFs dilate, thicken, and increase flow, i.e., mature, and 25% fail due to immediate thrombosis or maturation failure. Mature AVF thicken due to increased amounts of smooth muscle cells. By day 42, 67% of mature AVFs remain patent, but 33% of AVFs fail due to perianastomotic thickening. These results show that the mouse aortocaval model has an easily detectable maturation phase in the first 21 days followed by a potential failure phase in the subsequent 21 days. This model is the first animal model of AVF to show a course that recapitulates aspects of human AVF maturation.

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

BACKGROUND/AIMS: The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. METHODS: Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. RESULTS: Questionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). CONCLUSIONS: Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.