genetic counselors

遗传咨询师
  • 文章类型: Journal Article
    专业身份(PI)包括属性,信仰,值,动机,以及人们将自己定义为职业角色并通过与工作场所中的其他人进行社交而发展的经验。虽然有几项研究探索了遗传咨询师不断扩大的作用,很少有人专门提到PI。此范围审查旨在描述在遗传咨询文献中讨论或检查PI的背景。使用PubMed搜索文章,Scopus,和CINAHL,先验术语包括并与PI相关。基于美国或加拿大的文章以及所有研究设计,评论,和演讲都包括在内。发布日期不受限制。使用社会认同理论(SIT)来制定PI的定义,多名审稿人将纳入和排除标准应用于所有标题,摘要,以及通过所有审稿人协商一致解决冲突的全文文章。总共筛选了5523个标题和/或摘要,对467篇全文进行了评估和分类,内容为(1)专门关注PI,(2)包含PI元素虽然集中在另一个主题上,或者(3)与PI无关。在提取阶段审查了87(87)篇文章。最终,41篇文章被认为符合PI的商定特征。虽然遗传咨询师对PI的实证研究有限,PI正在相关领域的研究中得到解决,包括专业发展和多样性,股本,和包容性,以及在个人账户中,地址,和评论。遗传咨询师对PI的看法与其他卫生专业人员的报道一致。鉴于该领域缺乏多样性,遗传咨询师的机会迅速扩大,有一些专业人士感到被排斥的风险,这反过来可能会对该行业的集体身份产生负面影响,并转化为对患者护理的影响。需要进行有关遗传咨询师PI的其他研究。
    Professional identity (PI) comprises attributes, beliefs, values, motives, and experiences by which people define themselves in a professional role and evolves through socialization with others in the workplace. While there have been several studies exploring the expanding roles of genetic counselors, few have specifically addressed PI. This scoping review aimed to describe the contexts in which PI has been discussed or examined in the genetic counseling literature. Articles were searched using PubMed, Scopus, and CINAHL with a priori terms including and related to PI. Articles based in the United States or Canada and of all study designs, commentaries, and speeches were included. Date of publication was not restricted. Using social identity theory (SIT) to formulate a definition of PI, multiple reviewers applied inclusion and exclusion criteria to all titles, abstracts, and full-text articles with conflicts addressed through consensus among all reviewers. A total of 5523 titles and/or abstracts were screened, and 467 full-text articles were evaluated and categorized as (1) focusing on PI specifically, (2) containing elements of PI although focused on another topic, or (3) not related to PI. Eighty-seven (87) articles were reviewed during the extraction phase. Ultimately, 41 articles were deemed to meet the agreed upon characteristics of PI. While empirical studies of PI among genetic counselors were limited, PI is being addressed in research focused on related areas, including professional development and diversity, equity, and inclusion, as well as in personal accounts, addresses, and commentaries. Sentiments regarding PI voiced by genetic counselors align with those reported among other health professionals. Given the lack of diversity in the field and rapidly expanding opportunities for genetic counselors, there is risk of some members of the profession feeling excluded, which in turn could negatively impact the collective identity of the profession and translate into impacts on patient care. Additional research regarding the PI of genetic counselors is needed.
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  • 文章类型: Journal Article
    In response to mounting concerns regarding a perceived shortage of genetic counselors, the Genetic Counselor Workforce Working Group (WFWG) was established in 2013 to identify barriers to growth of the genetic counseling workforce. After completing a workforce analysis and confirming a shortage, the WFWG convened a strategic planning session in 2017 to identify goals and strategies that would increase the number of certified counselors to meet the current and future workforce demands and ensure access to genetic counselor services. Subcommittees were formed and charged with achieving assigned goals; one such subcommittee included a curriculum working group to build a dynamic and effective educational infrastructure to increase the number of genetic counselors graduated from accredited training program. This paper reports of progress of the WFWG Curriculum Subcommittee toward achieving this goal through a narrative literature review that identifies innovative education methods that help to increase capacity of fieldwork training, both in genetic counseling training programs and in other health professions. Of the five thematic areas identified in this study, four are analyzed for insight into building clinical capacity: systems/infrastructure, rotation structure/models, skill building, and novel techniques. While additional studies are needed to establish best practices in these thematic areas, there are several take-aways that training programs can begin to utilize as they look to expand training opportunities. While growth of the genetic counseling workforce will continue to be a long-term issue, programs should begin to think creatively and innovatively about how to reach beyond traditional fieldwork training formats to build capacity. The strategies explored in this paper offer feasible and untapped solutions that can help support efforts to establish a sustainable genetic counseling workforce.
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  • 文章类型: Journal Article
    当确定了导致常染色体显性疾病的遗传性致病变异时,有风险的亲属可以进行预测性DNA检测,以调查他们是否携带家族性变异.在目前的实践中,先证者被要求通知有风险的亲属,通常由家庭信件支持。这篇评论总结了有关先证者和亲属的偏好的文献,这些文献涉及应如何以及由谁告知有风险的亲属。涉及数字数据库的搜索(Pubmed,Medline,和PsycInfo)专注于患者对告知有常染色体显性遗传癌风险的亲属的态度-,心脏-,或者神经遗传疾病,产生了1,431条筛选记录,其中117篇全文论文进行了评估。最终,选择了32项研究。这项审查表明,大多数参与者赞成家庭中的某人通知他们有风险的亲戚,参与者通常觉得自己有责任通知处于危险中的亲戚。然而,观察到患者对谁应该告知的偏好存在差异.最值得赞赏的是先证者的面对面披露以及由HCP提供的亲属的其他信息材料。需要积极提供医疗保健专业人员的支持。总之,尽管家庭介导的方法得到了大多数参与者的赞赏,需要医疗保健专业人员的支持。通过考虑病人的态度,用于告知高危亲属的方法可以改进.随后,更多的亲属将被告知并能够参加遗传咨询,并就预测性DNA检测做出明智的决定。对患者态度的进一步研究,指定疾病类型和文化背景,是需要的。
    When a genetic disease-causing variant causing autosomal dominant diseases is identified, predictive DNA testing is possible for at-risk relatives to investigate whether they are carrying the familial variant. In current practice, the proband is asked to inform at-risk relatives, often supported by a family letter. This review summarizes the literature on preferences of probands and relatives regarding how and by whom at-risk relatives should be informed. A search involving digital databases (Pubmed, Medline, and PsycInfo) focusing on patient attitudes toward informing relatives at risk of autosomal dominant onco-, cardio-, or neurogenetic disease, resulted in 1,431 screened records, of which 117 full-text papers were assessed. Eventually, 32 studies were selected. This review shows that a majority of participants was in favor of someone in the family to inform their at-risk relatives, with participants generally feeling responsible for informing relatives at risk themselves. However, variation in patient preferences regarding who should inform was observed. Face-to-face disclosure by the proband with additional information material for relatives provided by HCPs was most appreciated. Actively offered support of healthcare professionals was desired. In conclusion, although the family-mediated approach was appreciated by a majority of participants, support by healthcare professionals was desired. By taking patient attitudes into account, the approach used to inform at-risk relatives could be improved. Subsequently, more relatives will be informed and enabled to attend genetic counseling and make an informed decision regarding predictive DNA testing. Further research on patient attitudes, specifying for disease type and cultural background, is needed.
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  • 文章类型: Journal Article
    BACKGROUND: Compassion fatigue describes a work-related stress response in healthcare providers that is considered a \'cost of caring\' and a key contributor to the loss of compassion in healthcare.
    OBJECTIVE: The purpose of this review was to critically examine the construct of compassion fatigue and to determine if it is an accurate descriptor of work-related stress in healthcare providers and a valid target variable for intervention.
    METHODS: Meta-narrative review.
    METHODS: PubMed, Medline, CINAHL, PsycINFO, and Web of Science databases, Google Scholar, the grey literature, and manual searches of bibliographies.
    METHODS: Seminal articles and theoretical and empirical studies on compassion fatigue in the healthcare literature were identified and appraised for their validity and relevance to our review. Sources were mapped according to the following criteria: 1) definitions; 2) conceptual analyses; 3) signs and symptoms; 4) measures; 5) prevalence and associated risk factors; and 6) interventions. A narrative account of included studies that critically examines the concept of compassion fatigue in healthcare was employed, and recommendations for practice, policy and further research were made.
    RESULTS: 90 studies from the nursing literature and healthcare in general were included in the review. Findings emphasized that the physical, emotional, social and spiritual health of healthcare providers is impaired by cumulative stress related to their work, which can impact the delivery of healthcare services; however, the precise nature of compassion fatigue and that it is predicated on the provision of compassionate care is associated with significant limitations. The conceptualization of compassion fatigue was expropriated from crisis counseling and psychotherapy and focuses on limited facets of compassion. Empirical studies primarily measure compassion fatigue using the Professional Quality of Life Scale, which does not assess any of the elements of compassion. Reported risk factors for compassion fatigue include job-related factors, fewer healthcare qualifications and less years experience; however, there is no research demonstrating that exemplary compassionate carers are more susceptible to \'compassion fatigue\'.
    CONCLUSIONS: In the last two decades, compassion fatigue has become a contemporary and iconic euphemism that should be critically reexamined in favour of a new discourse on healthcare provider work-related stress.
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  • 文章类型: Journal Article
    The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors\' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force\'s work, key changes and the 2013 PBCs are presented herein.
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  • 文章类型: Journal Article
    Genetic tests are routinely ordered by health care providers (HCPs) within a wide range of medical specialties. Many providers have limited knowledge or experience with ordering and interpreting genetic tests; thus, test order errors are common. Rigorous review of genetic test orders by genetic counselors (GCs) can provide a direct financial benefit to medical institutions, patients and insurers. GCs at ARUP (Associated Regional University Pathologists) Laboratories routinely perform a preanalytic assessment of complex molecular genetic test orders that includes reviewing clinical and family history information and considering the clinical utility and cost-effectiveness of ordered tests. GCs contact the ordering institution and/or HCP as needed to collect additional clinical information and confirm the test order or suggest alternative testing based on the provided information. A retrospective review of the GC-facilitated test changes over a 21-month period at ARUP laboratories was performed. Approximately 26% of all requests for complex genetic tests assessing germ line mutations were changed following GC review. Testing fees associated with canceled tests were summed to estimate the cost-savings resulting from GC-facilitated test reviews. The test review process resulted in an average reduction in charges to the referring institutions of $48,000.00 per month. GC review of genetic test orders for appropriateness and clinical utility reduces healthcare costs to hospitals, insurers, and patients.
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