The geography of genetics: an analysis of referral patterns to a cancer genetics service.
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ABSTRACT:
SUBMITTER: McDonald K
PROVIDER: S-EPMC2269036 | biostudies-other | 2007
REPOSITORIES: biostudies-other
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Project description:Prostate cancer rates vary substantially by race, ethnicity, and geography. These disparities can be explained by variation in access to screening and treatment, variation in exposure to prostate cancer risk factors, and variation in the underlying biology of prostate carcinogenesis (including genomic propensity of some groups to develop biologically aggressive disease). It is clear that access to screening and access to treatment are critical influencing factors of prostate cancer rates; yet, even among geographically diverse populations with similar access to care (eg, low- and medium-income countries), African descent men have higher prostate cancer rates and poorer prognosis. To date, the proportion of prostate cancer that can be explained by environmental exposures is small, and the effect of these factors across different racial, ethnic, or geographical populations is poorly understood. In contrast, prostate cancer has one of the highest heritabilities of all major cancers. Numerous genetic susceptibility markers have been identified from family-based studies, candidate gene association studies, and genome-wide association studies. Some prostate cancer loci, including the risk loci found at chromosome 8q24, have consistent effects in all groups studied to date. However, replication of many susceptibility loci across race, ethnicity, and geography remains limited, and additional studies in certain populations (particularly in men of African descent) are needed to better understand the underlying genetic basis of prostate cancer.
| S-EPMC5175208 | biostudies-literature
Project description:Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic service delivery. It describes and explores collaborative working practices including the utilisation and role of clinical geneticists and non-medical genetic counsellors. Six hundred and fifty new patients referred to a regional genetics service were tracked through 850 clinical contacts until discharge. Referral decisions regarding allocation of lead health professional assigned to the case were monitored, including the use of initial clinical contact guidelines. Significant differences were found in the cases led by genetic counsellors and those led by clinical geneticists. Around a sixth, 16.8% (109/650) of referrals were dealt with by a letter back to the referrer or re-directed to another service provider and 14.8% (80/541) of the remaining patients chose not to schedule an appointment. Of the remaining 461 patients, genetic counsellors were allocated as lead health professional for 46.2% (213/461). A further 61 patients did not attend. Of those who did, 86.3% (345/400) were discharged after one or two appointments. Genetic counsellors contributed to 95% (784/825) of total patient contacts. They provided 93.7% (395/432) of initial contacts and 26.8% (106/395) of patients were discharged at that point. The information from this study informed a planned service re-design. More research is needed to assess the effectiveness and efficiency of different models of collaborative multi-disciplinary working within genetics services.
| S-EPMC4795118 | biostudies-literature
Project description:Remote areas are often characterized by lower welfare outcomes due to economic disadvantages and higher transaction costs for trade. But their poorer situation may also be linked to worse public service delivery. Relying on large household surveys in rural Ethiopia, we explore this by assessing the association of two measures of remoteness - (1) the distance of service centers to district capitals and (2) the distance of households to service centers (the last mile) - with public service delivery in agriculture and health sectors. In the agriculture sector, we document statistically significant and economically meaningful associations between exposure to agriculture extension and the two measures of remoteness. For health extension, only the last mile matters. These differences between the two sectors could be due to the fact that more remote villages tend to have fewer agriculture extension workers who also put in fewer hours than their peers in more connected areas. This does not apply in the health sector. These findings provide valuable inputs for policymakers aiming to improve inclusiveness in poor rural areas.
| S-EPMC7511693 | biostudies-literature
Project description:INTRODUCTION:We describe the protocol for a project that will use linkage of routinely collected NHS data to answer a question about the nature and effectiveness of liaison psychiatry services in acute hospitals in England. METHODS AND ANALYSIS:The project will use three data sources: (1) Hospital Episode Statistics (HES), a database controlled by NHS Digital that contains patient data relating to emergency department (ED), inpatient and outpatient episodes at hospitals in England; (2) ResearchOne, a research database controlled by The Phoenix Partnership (TPP) that contains patient data relating to primary care provided by organisations using the SystmOne clinical information system and (3) clinical databases controlled by mental health trusts that contain patient data relating to care provided by liaison psychiatry services. We will link patient data from these sources to construct care pathways for patients who have been admitted to a particular hospital and determine those patients who have been seen by a liaison psychiatry service during their admission.Patient care pathways will form the basis of a matched cohort design to test the effectiveness of liaison intervention. We will combine healthcare utilisation within care pathways using cost figures from national databases. We will compare the cost of each care pathway and the impact of a broad set of health-related outcomes to obtain preliminary estimates of cost-effectiveness for liaison psychiatry services. We will carry out an exploratory incremental cost-effectiveness analysis from a whole system perspective. ETHICS AND DISSEMINATION:Individual patient consent will not be feasible for this study. Favourable ethical opinion has been obtained from the NHS Research Ethics Committee (North of Scotland) (REF: 16/NS/0025) for Work Stream 2 (phase 1) of the Liaison psychiatry-measurement and evaluation of service types, referral patterns and outcomes study. The Confidentiality Advisory Group at the Health Research Authority determined that Section 251 approval under Regulation 5 of the Health Service (Control of Patient Information) Regulations 2002 was not required for the study 'on the basis that there is no disclosure of patient identifiable data without consent' (REF: 16/CAG/0037).Results of the study will be published in academic journals in health services research and mental health. Details of the study methodology will also be published in an academic journal. Discussion papers will be authored for health service commissioners.
| S-EPMC6887012 | biostudies-literature
Project description:Oral anticoaguIants are extremely common, and it is estimated that there are between 500,000 and 1 million people prescribed them in the UK.[1] These drugs are the most frequently named medication in fatal errors and litigation claims [2] and they require the implementation of additional safety controls.[3] Warfarin is the most commonly prescribed anticoagulant and it requires regular international normalised ratio (INR) monitoring and dosage adjustment to achieve the desired therapeutic range.[4] Under-anticoagulation can cause thrombosis and over-anticoagulation can lead to haemorrhage, both of which can be fatal.[5] At St. Peter's hospital there is an anticoagulation service providing regular international normalised ratio (INR) monitoring for patients on warfarin. However, the current referral system is paper-based and a baseline audit found that only 66% of patients were successfully referred to the service on discharge from hospital. This identifies a significant patient safety issue which could result in life-threatening consequences. An electronic referral form was developed within a pre-existing computer based ordering system with the aim of improving the referral rate. The electronic referral tool streamlined the referral process, making the form quicker and easier to fill out and removed the need for faxing lengthy paper forms. Key information on the form was made mandatory. After intervention a re-audit revealed that 84% of patients discharged on warfarin were referred to the clinic, which equates to an increase of 18%. The increased referral rate will improve patient safety and prevent unnecessary hospital admissions. There should be continued promotion of the importance of referring patients to the anticoagulation clinic. This can be delivered through inductions, teaching sessions, and re-audits. Future goals include an automated referral system triggered on patient discharge.
| S-EPMC4645824 | biostudies-other
Project description:Young people's life chances can be predicted by characteristics of their neighbourhood1. Children growing up in disadvantaged neighbourhoods exhibit worse physical and mental health and suffer poorer educational and economic outcomes than children growing up in advantaged neighbourhoods. Increasing recognition that aspects of social inequalities tend, in fact, to be geographical inequalities2-5 is stimulating research and focusing policy interest on the role of place in shaping health, behaviour and social outcomes. Where neighbourhood effects are causal, neighbourhood-level interventions can be effective. Where neighbourhood effects reflect selection of families with different characteristics into different neighbourhoods, interventions should instead target families or individuals directly. To test how selection may affect different neighbourhood-linked problems, we linked neighbourhood data with genetic, health and social outcome data for >7,000 European-descent UK and US young people in the E-Risk and Add Health studies. We tested selection/concentration of genetic risks for obesity, schizophrenia, teen pregnancy and poor educational outcomes in high-risk neighbourhoods, including genetic analysis of neighbourhood mobility. Findings argue against genetic selection/concentration as an explanation for neighbourhood gradients in obesity and mental health problems. By contrast, modest genetic selection/concentration was evident for teen pregnancy and poor educational outcomes, suggesting that neighbourhood effects for these outcomes should be interpreted with care.
| S-EPMC6565482 | biostudies-literature
Project description:In many countries, the referral-consultation process faces a number of challenges from inefficiencies and rising demand, resulting in excessive wait times for many specialties. We collected referral data from a sample of family doctors across the province of Ontario, Canada as part of a larger program of research. The purpose of this study is to describe referral patterns from primary care to specialist and allied health services from the primary care perspective.We conducted a prospective study of patient referral data submitted by primary care providers (PCP) from 20 clinics across Ontario between June 2014 and January 2016. Monthly referral volumes expressed as a total number of referrals to all medical and allied health professionals per month. For each referral, we also collected data on the specialty type, reason for referral, and whether the referral was for a procedure.PCPs submitted a median of 26 referrals per month (interquartile range 11.5 to 31.8). Of 9509 referrals eligible for analysis, 97.8% were directed to medical professionals and 2.2% to allied health professionals. 55% of medical referrals were directed to non-surgical specialties and 44.8% to surgical specialties. Medical referrals were for procedures in 30.8% of cases and non-procedural in 40.9%. Gastroenterology received the largest share (11.2%) of medical referrals, of which 62.3% were for colonoscopies. Psychology received the largest share (28.3%) of referrals to allied health professionals.We described patterns of patient referral from primary care to specialist and allied health services for 30 PCPs in 20 clinics across Ontario. Gastroenterology received the largest share of referrals, nearly two-thirds of which were for colonoscopies. Future studies should explore the use of virtual care to help manage non-procedural referrals and examine the impact that procedural referrals have on wait times for gastroenterology.
| S-EPMC5567435 | biostudies-other
Project description:ObjectiveTo assess the extent of UK speech and language therapy engagement in assessment and management of primary progressive aphasia, determine the factors contributing to any shortfall and explore a gap in the research literature on current speech and language therapy practices with people with primary progressive aphasia.MethodsA 37-item, pilot-tested survey was distributed electronically via clinical networks and through the Royal College of Speech and Language Therapists. Survey items included questions on intervention approaches, referral numbers and demographics, referral sources and access to services.ResultsOne hundred and five speech and language therapists completed the survey. Over the previous 24 months, respondents reported seeing a total of 353 people with primary progressive aphasia (an average of 3.27 per speech and language therapist). Neurologists were the most commonly reported referrers to speech and language therapy (22.5%). Seventy-eight percent of respondents reported that people with primary progressive aphasia experienced barriers to accessing speech and language therapy. Key barriers were a lack of referrer awareness of a speech and language therapist's role, and restrictive eligibility criteria for services.ConclusionsThis study highlighted inequities in access to speech and language therapy for people with primary progressive aphasia. The medical and speech and language therapy professions need to develop appropriate care pathways for people with primary progressive aphasia. Speech and language therapists have a duty to develop a relevant evidence base for speech and language interventions for people with primary progressive aphasia.
| S-EPMC7309358 | biostudies-literature
Project description:ObjectiveRegionalized care reduces neonatal morbidity and mortality. This study evaluated the association of patient characteristics with quantitative differences in neonatal transport networks.Study designWe retrospectively analyzed prospectively collected data for infants <28 days of age acutely transported within California from 2008 to 2012. We generated graphs representing bidirectional transfers between hospitals, stratified by patient attribute, and compared standard network analysis metrics.ResultWe analyzed 34,708 acute transfers, representing 1594 unique transfer routes between 271 hospitals. Density, centralization, efficiency, and modularity differed significantly among networks drawn based on different infant attributes. Compared to term infants and to those transported for medical reasons, network metrics identify greater degrees of regionalization for preterm and surgical patients (more centralized and less dense, respectively [p < 0.001]).ConclusionNeonatal interhospital transport networks differ by patient attributes as reflected by differences in network metrics, suggesting that regionalization should be considered in the context of a multidimensional system.
| S-EPMC8613294 | biostudies-literature
Project description:Marine sponges are hosts to large, diverse communities of microorganisms. These microbiomes are distinct among sponge species and from seawater bacterial communities, indicating a key role of host identity in shaping its resident microbial community. However, the factors governing intraspecific microbiome variability are underexplored and may shed light on the evolutionary and ecological relationships between host and microbiome. Here, we examined the influence of genetic variation and geographic location on the composition of the Ircinia campana microbiome. We developed new microsatellite markers to genotype I. campana from two locations in the Florida Keys, USA, and characterized their microbiomes using V4 16S rRNA amplicon sequencing. We show that microbial community composition and diversity is influenced by host genotype, with more genetically similar sponges hosting more similar microbial communities. We also found that although I. campana was not genetically differentiated between sites, microbiome composition differed by location. Our results demonstrate that both host genetics and geography influence the composition of the sponge microbiome. Host genotypic influence on microbiome composition may be due to stable vertical transmission of the microbial community from parent to offspring, making microbiomes more similar by descent. Alternatively, sponge genotypic variation may reflect variation in functional traits that influence the acquisition of environmental microbes. This study reveals drivers of microbiome variation within and among locations, and shows the importance of intraspecific variability in mediating eco-evolutionary dynamics of host-associated microbiomes.
| S-EPMC6899969 | biostudies-literature