RESUMEN
BACKGROUND: The linkage of primary care, hospital and other health registry data is a global goal, and a consent-based approach is often used. Understanding the attitudes of why participants take part is important, yet little is known about reasons for non-participation. The ATHENA COVID-19 feasibility study investigated: 1) health outcomes of people diagnosed with COVID-19 in Queensland, Australia through primary care health data linkage using consent, and 2) created a cohort of patients willing to be re-contacted in future to participate in clinical trials. This report describes the characteristics of participants declining to participate and reasons for non-consent. METHODS: Patients diagnosed with COVID-19 from January 1st, 2020, to December 31st, 2020, were invited to consent to having their primary healthcare data extracted from their GP into a Queensland Health database and linked to other data sets for ethically approved research. Patients were also asked to consent to future recontact for participation in clinical trials. Outcome measures were proportions of patients consenting to data extraction, permission to recontact, and reason for consent decline. RESULTS: Nine hundred and ninety-five participants were approached and 842(85%) reached a consent decision. 581(69%), 615(73%) and 629(75%) consented to data extraction, recontact, or both, respectively. Mean (range) age of consenters and non-consenters were 50.6(22-77) and 46.1(22-77) years, respectively. Adjusting for age, gender and remoteness, older participants were more likely to consent than younger (aOR 1.02, 95%CI 1.01 to 1.03). The least socio-economically disadvantaged were more likely to consent than the most disadvantaged (aOR 2.20, 95% 1.33 to 3.64). There was no difference in consent proportions regarding gender or living in more remote regions. The main reasons for non-consent were 'not interested in research' (37%), 'concerns about privacy' (15%), 'not registered with a GP' (8%) and 'too busy/no time' (7%). 'No reason' was given in 20%. CONCLUSION: Younger participants and the more socio-economically deprived are more likely to non-consent to primary care data linkage. Lack of patient interest in research, time required to participate and privacy concerns, were the most common reasons cited for non-consent. Future health care data linkage studies addressing these issues may prove helpful.
Asunto(s)
COVID-19 , Humanos , Australia , Bases de Datos Factuales , Instituciones de Salud , HospitalesRESUMEN
BACKGROUND: The Genetic Links to Anxiety and Depression (GLAD) Study is a large cohort of individuals with lifetime anxiety and/or depression, designed to facilitate re-contact of participants for mental health research. At the start of the pandemic, participants from three cohorts, including the GLAD Study, were invited to join the COVID-19 Psychiatry and Neurological Genetics (COPING) study to monitor mental and neurological health. However, previous research suggests that participation in longitudinal studies follows a systematic, rather than random, process, which can ultimately bias results. Therefore, this study assessed participation biases following the re-contact of GLAD Study participants. METHODS: In April 2020, all current GLAD Study participants (N = 36,770) were invited to the COPING study. Using logistic regression, we investigated whether sociodemographic, mental, and physical health characteristics were associated with participation in the COPING baseline survey (aim one). Subsequently, we used a zero-inflated negative binomial regression to examine whether these factors were also related to participation in the COPING follow-up surveys (aim two). RESULTS: For aim one, older age, female gender identity, non-binary or self-defined gender identities, having one or more physical health disorders, and providing a saliva kit for the GLAD Study were associated with an increased odds of completing the COPING baseline survey. In contrast, lower educational attainment, Asian or Asian British ethnic identity, Black or Black British ethnic identity, higher alcohol consumption at the GLAD sign-up survey, and current or ex-smoking were associated with a reduced odds. For aim two, older age, female gender, and saliva kit provision were associated with greater COPING follow-up survey completion. Lower educational attainment, higher alcohol consumption at the GLAD Study sign-up, ex-smoking, and self-reported attention deficit hyperactivity disorder had negative relationships. CONCLUSIONS: Participation biases surrounding sociodemographic and physical health characteristics were particularly evident when re-contacting the GLAD Study volunteers. Factors associated with participation may vary depending on study design. Researchers should examine the barriers and mechanisms underlying participation bias in order to combat these issues and address recruitment biases in future studies.
Asunto(s)
COVID-19 , Salud Mental , Humanos , Masculino , Femenino , Depresión , Identidad de Género , AnsiedadRESUMEN
Tumour DNA and germline testing, based on DNA-wide sequencing analysis, are becoming more and more routine in clinical-oncology practice. A promising step in medicine, but at the same time leading to challenging ethicolegal questions. An important one is under what conditions individuals (patients and their relatives, research participants) should be recontacted with new information, even if many years have passed since the last contact. Based on legal- and ethical study, we developed a tool to help professionals to decide whether or not to recontact an individual in specific cases. It is based on four assessment criteria: (1) professional relationship (2) clinical impact (3) individual's preferences and (4) feasibility. The tool could also serve as a framework for guidelines on the topic.
Asunto(s)
Deber de Recontacto , Neoplasias , Humanos , Genómica , Neoplasias/diagnóstico , Neoplasias/genética , Neoplasias/terapiaRESUMEN
PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability threshold, which is classification of likely pathogenic or pathogenic, clinical actions may be irreversible, such as risk-reducing surgery or prenatal interventions. Variant reclassification up or down across the actionability threshold can therefore have significant clinical consequences. Laboratory approaches to variant reinterpretation and reclassification vary widely. METHODS: Cancer Variant Interpretation Group UK is a multidisciplinary network of clinical scientists and genetic clinicians from across the 24 Molecular Diagnostic Laboratories and Clinical Genetics Services of the United Kingdom (NHS) and Republic of Ireland. We undertook surveys, polls, and national meetings of Cancer Variant Interpretation Group UK to evaluate opinions about clinical and laboratory management regarding variant reclassification. RESULTS: We generated a consensus framework on variant reclassification applicable to cancer susceptibility genes and other clinical areas, which provides explicit recommendations for clinical and laboratory management of variant reclassification scenarios on the basis of the nature of the new evidence, the magnitude of evidence shift, and the final classification score. CONCLUSION: In this framework, clinical and laboratory resources are targeted for maximal clinical effect and minimal patient harm, as appropriate to all resource-constrained health care settings.
Asunto(s)
Pruebas Genéticas , Neoplasias , Predisposición Genética a la Enfermedad , Variación Genética/genética , Humanos , Laboratorios , Neoplasias/diagnóstico , Neoplasias/genéticaRESUMEN
Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re-contact are managed. This study aimed to describe the process of variant reclassification and subsequent patient re-contact at a comprehensive cancer genetic counseling service in a large metropolitan medical center with several statewide satellite locations. A retrospective chart review was performed to identify reclassified variants between 1/1/1997 and 12/1/2020. In total, 8.4% (211/2503) of variants were reclassified over the 24-year period, which includes multiple cases involving the same unique variant. Several variants underwent more than one reclassification, resulting in 232 total reclassifications among 194 individuals. Nearly all reclassifications were prompted by the laboratory (99.1%; 230/232) rather than the genetics clinic staff. Overall, 10.3% (24/232) of all reclassifications were upgrades, but only 9.1% (21/232) led to a change in management recommendations. The median time for variant reclassification was 1.7 years (interquartile range [IQR] = 0.8-3.2 years). There was no statistically significant difference in the time to reclassification for White patients (median = 1.6 years; IQR = 0.8-2.8 years) compared to non-White patients (median = 2.0 years; IQR = 0.9-3.7 years; Mann-Whitney U = 4,764.0, p = 0.066). Patient re-contact was attempted for 97.4% (226/232) of variants and was always performed by a genetic counselor, most often through a mailed letter (85.8%, 194/226). Specifically for reclassifications that led to a change in management recommendations, re-contact was always attempted, most often through combined telephone and mailed letter (95.2%; 20/21). Overall, the median time from reclassification to attempted patient re-contact was 13 days (range: 0-589 days). The characterization of this clinic's reclassification and re-contact procedures can serve as an example for other genetics clinics trying to incorporate re-contact into their workflow.
Asunto(s)
Predisposición Genética a la Enfermedad , Neoplasias , Humanos , Variación Genética , Estudios Retrospectivos , Pruebas Genéticas/métodos , Neoplasias/genéticaRESUMEN
The issue of recontacting past genetics patients is increasingly relevant, particularly with the introduction of next-generation sequencing. Improved testing can provide additional information on the pathogenicity and prevalence of genetic variants, often leading to a need to recontact patients. Some international genetics societies have position statements and recommendations to guide genetic health professionals (GHPs) navigating the legal, ethical and practical issues of recontacting. In the absence of a standardised Australasian protocol, we explored the experiences and opinions of Australasian GHPs regarding patient follow-up and recontacting practices. Forty-five respondents completed an online survey. Most respondents indicated that recontacting occurred on an ad hoc basis, but most genetic services relied on patients (or family) initiating recontact. Implementation of a routine recontacting system was widely dismissed by 73% of respondents, citing lack of resources, limited information on legal responsibility and setting unrealistic expectations as common barriers. If recontact was contemplated, e-communication was an acceptable first step. This study identified the need for integrated familial cancer registries to assist under-resourced genetic services to maintain up-to-date patient records. Developing a standard recontacting protocol with flexibility to account for patient individuality and circumstances might enable provision of equitable service within Australasia.
RESUMEN
While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major challenge. Although periodical reinterpretation of VUSs is highly desired, recontacting former patients with new classifications is commonly not fulfilled in practice. We draw on semi-structured interviews with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Findings show agreement that an individual health care professional cannot address the task of recontacting patients after re-classification, and that responsibility should be shared among the medical specialties, laboratory scientists, as well as patients. In the absence of established guidelines, many respondents suggested that the patient should be informed about reclassification during a follow-up contact but they disagreed who should be responsible for informing the patient. HCPs agreed that the solution to this challenge involves a centralized automated database that is accessible, continuously updated, and facilitates retrospective as well as prospective flagging of reclassification for patients who can benefit from this information. National and international policies providing concrete guidelines on the optimal way to recontact patients with new valuable genomic information are needed.
RESUMEN
Recontacting former patients regarding new genetic information is currently not standard care but might be implemented in the future. Little information is available on the implications of this practice from the point of view of former patients. The aim of this study was to investigate preferences for recontact when new genetic information becomes available among patients tested for BRCA pathogenic variants. We further wanted to investigate whether having a high or low information-seeking coping style (monitoring) impacts preferences. Preferences for recontact were assessed using a self-constructed questionnaire. The Threatening Medical Situations Inventory (TMSI) was used to measure monitoring coping style. The questionnaires were sent to 500 randomly selected patients who had previously been tested for BRCA pathogenic variants within the time frame 2001-2014 at one genetic clinic in Norway. We received 323 completed questionnaires. Most respondents wanted to be recontacted with advances in genetic medicine (81.1%) and to receive highly personalized updates. Genetic counselors/geneticists were believed to be most responsible for recontact. There was a significant relationship between being a high monitor and wanting recontact to learn about own cancer risk and receive ongoing support. Patients have a high interest in being recontacted. The findings indicated a tendency for high monitors to prefer more detailed and personalized information.
Asunto(s)
Consejeros , Deber de Recontacto , Adaptación Psicológica , Proteína BRCA1/genética , Proteína BRCA2 , Pruebas Genéticas , Humanos , Prioridad del PacienteRESUMEN
AIMS: To report the re-contact rates and clinical characteristics of individuals referred to community diabetic teams following non-conveyance by HCPC paramedics. METHODS: A retrospective cross-sectional study of routinely collected data by the Northern Ireland Ambulance Service HSC Trust of individuals referred to a community diabetic service following ambulance attendance and non-conveyance. Data were collected over a 3-month period with ambulance service re-contact and clinical data analysed. RESULTS: 418 emergency calls were identified as relating to hypoglycaemia with 169 referrals being made, a referral rate of 40.4%. Patients treated with insulin represented the majority of calls and tended to have a lower Glasgow Coma Scale score, but demonstrated many successful referrals. Increased age and multimorbidity were associated with repeat hypoglycaemic episodes and EMS attendance while other subgroups traditionally considered higher risk, such as patients with infections or under the influence of alcohol, showed potential for safe community management. CONCLUSION: The majority of paramedic referrals to community diabetic teams were successful, with less than 5% re-contacting the ambulance service within 3 days. This study, although demonstrating a lower referral rate than previous research, reinforces the safety of paramedic management and community referral for hypoglycaemia.
RESUMEN
Created in 2015 in the Nord-Pas-de-Calais region by Professor Guillaume Vaiva, the VigilanS system for maintaining a post-hospital link with suicidal patients is the result of a long process of maturation. Its effectiveness in reducing recidivism and suicidal mortality has led the Ministry of Health and Solidarity to request its extension to the entire country by 2022. Supported by a new type of caregiving, it can only be legitimate if it is integrated into the various measures of the global and multimodal suicide prevention policy.
Asunto(s)
Reincidencia , Francia , Humanos , Reincidencia/prevención & control , Ideación Suicida , Intento de SuicidioRESUMEN
BACKGROUND: The periodontal healing distal to the mandibular second molar (M2M) after coronectomy of the M3M has shown controversial results. We aimed to combine a digital method with cone-beam computed tomography (CBCT) and estimate periodontal healing of M2M after M3M coronectomy. An accurate and stable indicator in three dimensions was also explored tentatively. METHODS: Patients with a M3M in contact with the inferior alveolar canal were included. CBCT was applied immediately after coronectomy (baseline) and 6-months later. Data were investigated with digital software for registration. Previously reported and coronectomy-related factors were included for univariate and multivariate analyses. RESULTS: A total of 181 patients (213 M3Ms) completed 6-month follow-up. Significant reduction in the distal intra-bony defect (DBD) depth of the M2M was shown (1.28 ± 1.24 mm, P < 0.001). DBD depth of the M2M at baseline was the most influential factor (r = 0.59), followed by preoperative M3M condition, age, rotation and migration of the root complex. Remaining enamel (OR = 6.93) and small retromolar space (0.67) contributed to re-contact of the root complex and M2M. Bone volume regenerated in the distal 2 mm was associated significantly with DBD-depth reduction (r = 0.74, P < 0.001). CONCLUSIONS: Bone volume regenerated in the distal 2 mm of the M2M denoted stability of distal periodontal healing of the M2M. DBD depth at baseline was the most influential factor for healing of a DBD of the M2M after M3M coronectomy. The remaining enamel and a small retromolar space could contribute to re-contact of the root complex and the M2M. TRIAL REGISTRATION: China Clinical Trial Center, ChiCTR1800014862 . Registered 10 February 2018.
Asunto(s)
Tercer Molar , Diente Impactado , China , Computadores , Humanos , Mandíbula/diagnóstico por imagen , Mandíbula/cirugía , Diente Molar , Tercer Molar/diagnóstico por imagen , Tercer Molar/cirugía , Estudios Prospectivos , Extracción DentalRESUMEN
BACKGROUND: The inadequate follow-up of test results is a key patient safety concern, carrying severe consequences for care outcomes. Patients discharged from the emergency department are at particular risk of having test results pending at discharge due to their short lengths of stay, with many hospitals acknowledging that they do not have reliable systems for managing such results. Health information technology hold the potential to reducing errors in the test result management process. This study aimed to measure changes in the proportion of acknowledged radiology reports pre and post introduction of an electronic result acknowledgement system and to determine the proportion of reports with abnormal results, including clinically significant abnormal results requiring follow-up action. METHODS: A before and after study was conducted in the emergency department of a 450-bed metropolitan teaching hospital in Australia. All radiology reports for discharged patients for a one-month period before and after implementation of the electronic result acknowledgement system were reviewed to determine; i) those that reported abnormal results; ii) evidence of test result acknowledgement. All unacknowledged radiology results with an abnormal finding were assessed by an independent panel of two senior emergency physicians for clinical significance. RESULTS: Of 1654 radiology reports in the pre-implementation period 70.6% (n = 1167) had documented evidence of acknowledgement by a clinician. For reports with abnormal results, 71.6% (n = 396) were acknowledged. Of 157 unacknowledged abnormal radiology reports reviewed by an independent emergency physician panel, 34.4% (n = 54) were identified as clinically significant and 50% of these (n = 27) were deemed to carry a moderate likelihood of patient morbidity if not followed up. Electronic acknowledgement occurred for all radiology reports in the post period (n = 1423), representing a 30.4% (95% CI: 28.1-32.6%) increase in acknowledgement rate, and an increase of 28.4% (95% CI: 24.6-32.2%) for abnormal radiology results. CONCLUSIONS: The findings of this study demonstrate the potential of health information technology to improve the safety and effectiveness of the diagnostic process by increasing the rate of follow up of results pending at hospital discharge.
Asunto(s)
Registros Electrónicos de Salud , Informática Médica , Alta del Paciente , Australia , Servicio de Urgencia en Hospital , Humanos , Errores Médicos/prevención & control , RadiologíaRESUMEN
BACKGROUND: Little is known about the impact of reclassification on patients' perception of medical uncertainty or trust in genetics-based clinical care. METHODS: Semistructured telephone interviews were conducted with 20 patients who had received a reclassified genetic test result related to hereditary cancer. All participants had undergone genetic counseling and testing for cancer susceptibility at Vanderbilt-Ingram Cancer Center Hereditary Cancer Clinic within the last six years. RESULTS: Most of the participants did not express distress related to the variant reclassification and only a minority expressed a decrease in trust in medical genetics. However, recall of the new interpretation was limited, even though all participants were recontacted by letter, phone, or clinic visit. CONCLUSION: Reclassification of genetic tests is an important issue in modern healthcare because changes in interpretation have the potential to alter previously recommended management. Participants in this study did not express strong feelings of mistrust or doubt about their genetic evaluation. However, there was a low level of comprehension and information retention related to the updated report. Future research can build on this study to improve communication with patients about their reclassified results.
Asunto(s)
Actitud , Asesoramiento Genético/psicología , Predisposición Genética a la Enfermedad/clasificación , Neoplasias/genética , Pacientes/psicología , Adulto , Anciano , Comprensión , Femenino , Predisposición Genética a la Enfermedad/psicología , Pruebas Genéticas/métodos , Humanos , Masculino , Persona de Mediana Edad , Encuestas y CuestionariosRESUMEN
Sequencing technology is increasing the scale of information that could benefit patients who have been tested in the past. This raises the question whether professionals have a duty to recontact such patients or their families. There is currently no clear basis for a legal duty to recontact, and professional guidelines are limited. We conducted interviews with 14 senior professionals from the Netherlands and UK to obtain a range of opinions on what obligations are estimated to be possible or desirable. There was (near) consensus that a lack of resources currently inhibits recontacting in clinical practice, that recontacting is less desirable in research, that information on recontacting should be part of informed consent, and that a legal duty should follow professional standards. There was a diversity of opinions on the desirability of a more systematic approach, potential obligations in hybrid clinical-research projects, and who should bear responsibility for seeking updates. Based on the literature, legal framework and these interviews, we conclude that a general duty to recontact is unlikely, but that in specific circumstances a limited duty may apply if the benefit to the individual is significant and the burden on professionals not too extensive. The variation in opinion demonstrates that further deliberations are desirable. The development of guidelines-a process the European Society of Human Genetics has begun-is important to ensure that the courts, in deciding a recontacting case, can take into account what professionals consider responsible standards in this field.
Asunto(s)
Deber de Recontacto/ética , Guías como Asunto , Recolección de Datos , Deber de Recontacto/legislación & jurisprudencia , Ética en Investigación , Genética Médica/ética , Humanos , Consentimiento Informado , Entrevistas como Asunto , Países Bajos , Pacientes/legislación & jurisprudencia , Sujetos de Investigación/legislación & jurisprudencia , Reino UnidoRESUMEN
In hereditary cancer, multigene panel testing is currently replacing older single-gene approaches. Patients whose tests were previously uninformative could benefit from updated testing. Research suggests that patients desire to be recontacted about updated genetic testing, but few studies have tested the efficacy of recontact efforts. This study investigated the outcomes of a recontact effort in a hereditary cancer clinic and explored the impact of four different recontact letters, randomized in a 2X2 factorial design. Patients who had negative genetic testing for single genes or conditions were mailed letters inviting them to schedule an appointment to discuss updated testing. Patients were randomized to receive one of four letters and each letter emphasized different implications of updated multigene genetic testing: (a) personal medical management implications, (b) implications for family members, (c) both personal and family implications or (d) a control letter. The proportion of patients who arrived for appointments was assessed approximately 7 months after mailing along with associations with patient demographics and type of letter received. Letters were mailed to 586 patients who had initial testing between 2001 and 2015. Most patients were white (78%) and female (97%) with private insurance (65%). At 7 months, 25 patients (4.3%, 95% CI: 2.6% to 5.9%) had arrived for an appointment. Older age was significantly associated with response rate (p = .01), while type of recontact letter was not (p = .54). This study suggests that recontacting patients about updated genetic testing by mail does not yield a large response. It also suggests that personal and/or familial implications do not seem to be significant factors that determine response rate. Nevertheless, results provide meaningful information for cancer clinics about the outcomes of recontact efforts via informational letter.
Asunto(s)
Deber de Recontacto , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Neoplasias/genética , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single-gene to multi-gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list-serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty-one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97). A majority (61%, 17/28), of genetic counselors who reported recontact specifically for panel testing indicated that the availability of management recommendations for genes not previously tested routinely was an important factor in the decision to recontact. All respondents who recontacted patients reported "improved patient care" as a perceived benefit. Respondents indicated that recontact is mostly a patient responsibility (49%), followed by a shared responsibility between the provider and patient (43%). Few respondents (2%) reported a uniform ethical duty to recontact patients regarding new and updated testing, while the majority (89%) felt that there was some degree of ethical duty. A greater percentage of those who reported past recontact practices reported intention to recontact in the future (p = 0.001). There is little consensus among the genetic counselor respondents about how to approach the recontacting of patients to offer updated genetic testing.
Asunto(s)
Consejeros , Deber de Recontacto , Ética Profesional , Asesoramiento Genético/normas , Pruebas Genéticas/normas , Asesoramiento Genético/ética , Humanos , Atención al PacienteRESUMEN
The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview. A modified grounded theory approach was used to guide data collection and thematic analysis. Qualitative coding was shared by the research team to triangulate analysis. The practice of recontact was viewed by participants as acceptable and was associated with minimal emotional distress. The majority of men understood that they may be above population risk of prostate cancer, although evidence was still emerging. Men reported high engagement with personal and familial health, including regular screening practices and familial risk communication. Findings suggest that men's carrier status and beliefs about the actionability of the new cancer risk information influence their response to recontact. Recontact practices that include the offer of risk management strategies may lead to improved patient outcomes (e.g., reduced cancer worry and increased health engagement), if perceived as valuable by recipients.
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/complicaciones , Deber de Recontacto , Neoplasias de la Próstata/complicaciones , Adulto , Australia , Neoplasias Colorrectales Hereditarias sin Poliposis/psicología , Salud de la Familia , Humanos , Masculino , Persona de Mediana Edad , Investigación Cualitativa , Factores de RiesgoRESUMEN
The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.
Asunto(s)
Deber de Recontacto , Deber de Advertencia/legislación & jurisprudencia , Pruebas Genéticas/normas , Genética Médica/normas , Genómica/normas , Australia , Canadá , Ética en Investigación , Europa (Continente) , Genética Médica/educación , Genética Médica/ética , Humanos , Responsabilidad Legal , Sujetos de Investigación , Sociedades Médicas , Estados UnidosRESUMEN
INTRODUCTION: Diabetes mellitus has been referred to as an 'epidemic' and the World Health Organization reported 422 million people with the disease in 2014. Hypoglycaemia is common among emergency presentations, yet understanding around the utilisation of emergency medical services (EMS) for this is incomplete.Ambulance service referral pathways for those suitable to be treated in the community have been developed as a means of managing this growing demand. However, there is limited evidence to suggest how they should be constructed or implemented.The aim of this review was to examine patients who re-contacted the health services following EMS non-transport for a hypoglycaemic episode and to determine if risk factors could be identified. METHODS: Medline/PubMed and CINAHL online databases were searched for papers published between 1998 and 2018 relating to re-contacts following an interaction with EMS. The Cochrane Library online database was also searched, as well as manual searches from key journals. Relevant clinical manuals, guidelines and specific grey literature were also hand searched. RESULTS: After duplicates were removed, 260 articles were identified, with 41 selected for full review. These were then reduced by excluding those that did not provide any data on re-contact rates/demographics. The remaining papers were then assessed using the Critical Appraisal Skills Programme (CASP) appraisal tool and those identified as of low quality were removed. This produced 17 papers for final inclusion. CONCLUSION: The literature demonstrates that ambulance clinicians can appropriately treat hypoglycaemia in the community and identify those requiring further assessment at emergency departments. However, due to the very nature of diabetes, repeat episodes will and do occur, regardless of community or emergency department management, but these are rarely in the acute phase. Some groups are higher risk, but thorough holistic assessment is vital for identifying those suitable for community management.
RESUMEN
In France, one adolescent out of ten has already attempted suicide. In this population, suicide reattempts are frequent and significantly impact the vital, morbid and functional long-term prognosis. For about fifteen years, surveillance and brief contact intervention systems (SBCIS) have been used to complete the French suicide reattempt prevention arsenal for youth. The relevance of such strategy appears once the mental health service gap observed at this period of life is considered. In addition to prompting better coordination between the different professional stakeholders, the SBCIS help to alleviate the adolescent's help-seeking barriers, especially the ambivalence between conquest of autonomy and need for help. The first results from the French SBCIS dedicated to children and adolescents are encouraging. Although they have to deal with specific challenges, we argue that they relevantly complement and potentiate the already available prevention resources, thus optimizing the whole prevention system for suffering youth.