The role of the genetic counsellor: a systematic review of research evidence

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms

Golestan cohort study of oesophageal cancer: feasibility and first results

To investigate the incidence of oesophageal cancer (EC) in the Golestan province of North-East Iran, we invited 1349 rural and urban inhabitants of Golestan province aged 35–80 to undergo extensive lifestyle interviews and to provide biological samples. The interview was repeated on a subset of 130 participants to assess reliability of questionnaire and medical information. Temperature at which tea was consumed was measured on two occasions by 110 subjects. Samples of rice, wheat and sorghum were tested for fumonisin contamination. An active follow-up was carried out after 6 and 12 months. A total of 1057 subjects (610 women and 447 men) participated in this feasibility study (78.4% participation rate). Cigarette smoking, opium and alcohol use were reported by 163 (13.8%), 93 (8.8%) and 39 (3.7%) subjects, respectively. Tobacco smoking was correlated with urinary cotinine (κ=0.74). Most questionnaire data had κ >0.7 in repeat measurements; tea temperature measurement was reliable (κ=0.71). No fumonisins were detected in the samples analysed. During the follow-up six subjects were lost (0.6%), two subjects developed EC (one dead, one alive); in all, 13 subjects died (with cause of death known for 11, 84.6%). Conducting a cohort study in Golestan is feasible with reliable information obtained for suspected risk factors; participants can be followed up for EC incidence and mortality

Identifying risks for male street gang affiliation: a systematic review and narrative synthesis

Gang violence has increased in recent years. Individuals are becoming gang affiliated younger, and many have suffered historic maltreatment. Subsequent exposure to violence can result in profound consequences, including acute psychological harm. This review aims to identify predictive risk factors for male street gang affiliation. A systematic literature search was conducted utilising PsycINFO, PsycARTICLES, Medline, the Cochrane Central Register of Controlled Trials, the Cochrane Database of Systematic Reviews and the Social Policy and Practice databases (from the databases’ inception to 03/04/15). From this search, n=244 peer-reviewed papers were included in an initial scoping review, and n=102 thereafter met criteria for a systematic review; a narrative synthesis follows. Gang members have typically faced numerous historic adversities across multiple domains; individual, family, peers, school and community. Cumulative factors generated an independent risk. The meta-narrative described an overarching failure to safeguard vulnerable individuals, with the motivation for gang affiliation hypothetically arising from an attempt to have their basic needs met. Clinical and research recommendations were made to inform early intervention policy and practice

Face recognition and visual search strategies in autism spectrum disorders: Amending and extending a recent review by Weigelt et al.

The purpose of this review was to build upon a recent review by Weigelt et al. which examined visual search strategies and face identification between individuals with autism spectrum disorders (ASD) and typically developing peers. Seven databases, CINAHL Plus, EMBASE, ERIC, Medline, Proquest, PsychInfo and PubMed were used to locate published scientific studies matching our inclusion criteria. A total of 28 articles not included in Weigelt et al. met criteria for inclusion into this systematic review. Of these 28 studies, 16 were available and met criteria at the time of the previous review, but were mistakenly excluded; and twelve were recently published. Weigelt et al. found quantitative, but not qualitative, differences in face identification in individuals with ASD. In contrast, the current systematic review found both qualitative and quantitative differences in face identification between individuals with and without ASD. There is a large inconsistency in findings across the eye tracking and neurobiological studies reviewed. Recommendations for future research in face recognition in ASD were discussed

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling

Extremely High Tp53 Mutation Load in Esophageal Squamous Cell Carcinoma in Golestan Province, Iran

Background: Golestan Province in northeastern Iran has one of the highest incidences of esophageal squamous cell carcinoma (ESCC) in the world with rates over 50 per 100,000 person-years in both sexes. We have analyzed TP53 mutation patterns in tumors from this high-risk geographic area in search of clues to the mutagenic processes involved in causing ESCC. Methodology/Principal Findings: Biopsies of 119 confirmed ESCC tumor tissue from subjects enrolled in a case-control study conducted in Golestan Province were analyzed by direct sequencing of TP53 exons 2 through 11. Immunohistochemical staining for p53 was carried out using two monoclonal antibodies, DO7 and 1801. A total of 120 TP53 mutations were detected in 107/119 cases (89.9), including 11 patients with double or triple mutations. The mutation pattern was heterogeneous with infrequent mutations at common TP53 "hotspots" but frequent transversions potentially attributable to environmental carcinogens forming bulky DNA adducts, including 40 at bases known as site of mutagenesis by polycyclic aromatic hydrocarbons (PAHs). Mutations showed different patterns according to the reported temperature of tea consumption, but no variation was observed in relation to ethnicity, tobacco or opium use, and alcoholic beverage consumption or urban versus rural residence. Conclusion/Significance: ESCC tumors in people from Golestan Province show the highest rate of TP53 mutations ever reported in any cancer anywhere. The heterogeneous mutation pattern is highly suggestive of a causative role for multiple environmental carcinogens, including PAHs. The temperature and composition of tea may also influence mutagenesis

Factors impacting employment for people with autism spectrum disorder: A scoping review

The aim of this study is to holistically synthesise the extent and range of literature relating to the employment of individuals with autism spectrum disorder. Database searches of Medline, CINAHL, PsychINFO, Scopus, ERIC, Web of Science and EMBASE were conducted. Studies describing adults with autism spectrum disorder employed in competitive, supported or sheltered employment were included. Content analysis was used to identify the strengths and abilities in the workplace of employees with autism spectrum disorder. Finally, meaningful concepts relating to employment interventions were extracted and linked to the International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder. The search identified 134 studies for inclusion with methodological quality ranging from limited to strong. Of these studies, only 36 evaluated employment interventions that were coded and linked to the International Classification of Functioning, Disability and Health, primarily focusing on modifying autism spectrum disorder characteristics for improved job performance, with little consideration of the impact of contextual factors on work participation. The International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder are a useful tool in holistically examining the employment literature for individuals with autism spectrum disorder. This review highlighted the key role that environmental factors play as barriers and facilitators in the employment of people with autism spectrum disorder and the critical need for interventions which target contextual factors if employment outcomes are to be improved

Implementing telehealth to support medical practice in rural/remote regions: what are the conditions for success?

BACKGROUND: Telehealth, as other information and communication technologies (ICTs) introduced to support the delivery of health care services, is considered as a means to answer many of the imperatives currently challenging health care systems. In Canada, many telehealth projects are taking place, mostly targeting rural, remote or isolated populations. So far, various telehealth applications have been implemented and have shown promising outcomes. However, telehealth utilisation remains limited in many settings, despite increased availability of technology and telecommunication infrastructure. METHODS: A qualitative field study was conducted in four remote regions of Quebec (Canada) to explore perceptions of physicians and managers regarding the impact of telehealth on clinical practice and the organisation of health care services, as well as the conditions for improving telehealth implementation. A total of 54 respondents were interviewed either individually or in small groups. Content analysis of interviews was performed and identified several effects of telehealth on remote medical practice as well as key conditions to ensure the success of telehealth implementation. RESULTS: According to physicians and managers, telehealth benefits include better access to specialised services in remote regions, improved continuity of care, and increased availability of information. Telehealth also improves physicians' practice by facilitating continuing medical education, contacts with peers, and access to a second opinion. At the hospital and health region levels, telehealth has the potential to support the development of regional reference centres, favour retention of local expertise, and save costs. Conditions for successful implementation of telehealth networks include the participation of clinicians in decision-making, the availability of dedicated human and material resources, and a planned diffusion strategy. Interviews with physicians and managers also highlighted the importance of considering telehealth within the broader organisation of health care services in remote and rural regions. CONCLUSION: This study identified core elements that should be considered when implementing telehealth applications with the purpose of supporting medical practice in rural and remote regions. Decision-makers need to be aware of the specific conditions that could influence telehealth integration into clinical practices and health care organisations. Thus, strategies addressing the identified conditions for telehealth success would facilitate the optimal implementation of this technology