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1.
J Genet Couns ; 33(1): 135-141, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38344862

RESUMEN

The COVID-19 Pandemic placed many challenges on the healthcare system. As healthcare providers were stretched thin and clinics were closed to any non-essential personnel, including learners, educational programs across the country scrambled to meet the needs of their students. In response to restrictions placed on traditional in-person clinical training, the University of Michigan Genetic Counseling Program (UMGCP) designed a Clinical Bootcamp (Bootcamp); a two-weeklong, blended educational activity using a framework of case-based learning (CBL) (McLean, 2016). Journal of Medical Education and Curricular Development, 3, JMECD.S20377). Herein is a description of the theory behind the design as well as specific details of the activities and evaluations to aid implementation and ideas for future applications. Activities developed for the Clinical Bootcamp retain relevance when clinical sites and experienced clinical supervisors are limited resources. We believe the Bootcamp can serve as a tool to expedite the transition of clinical skills to a new setting, allowing students to engage more fully upon entering a new clinical space, leading to optimal use of supervisors' time and experience, and allowing students to maximize the benefit of their time in clinic.


Asunto(s)
COVID-19 , Pandemias , Humanos , Estudiantes , Instituciones de Atención Ambulatoria , Competencia Clínica
4.
J Genet Couns ; 32(6): 1288-1300, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37095722

RESUMEN

Entrustment decisions are an essential part of genetic counseling supervision and have the potential to influence a student's progression toward autonomy. However, there is often uncertainty among supervisors regarding how and when to make these decisions and very few studies have examined the impact of these decisions on students. This study utilized a mixed methods approach including surveys of genetic counseling supervisors (n = 76) and students (n = 86) as well as qualitative interviews with genetic counseling supervisors (n = 20) and students (n = 20) that explored factors that influence the entrustment decisions of genetic counseling supervisors and their effect on genetic counseling students. Genetic counseling supervisors and students were recruited from various organizations across the United States and Canada and represented a range of geographic regions, hospital systems, and genetic counseling programs. A hybrid process of deductive and inductive coding and thematic analysis was used to evaluate and interpret transcripts from the supervisor and student interviews. All participants identified advantages of increased autonomy during training. However, many supervisors reported low entrustment, seldom allowing students to complete unsupervised sessions or supervised cases without interruption. Entrustment decisions were heavily influenced by student ability and confidence, as well as patient feedback. Students emphasized the negative impact of decreased entrustment on their confidence and described clear benefits to increased autonomy before, during, and after the genetic counseling appointment. Supervisors identified various barriers to entrustment pertaining to the student, clinical setting, and the patient, whereas students more often emphasized barriers pertaining to themselves. Our results highlight a tension between the clear advantages of increased entrustment and autonomy and various barriers to the provision of these opportunities. Additionally, our data suggest several ways to enhance the supervisor-student relationship and promote additional learning opportunities to support student-centered supervision.


Asunto(s)
Asesoramiento Genético , Internado y Residencia , Humanos , Asesoramiento Genético/psicología , Competencia Clínica , Estudiantes , Aprendizaje
5.
Orphanet J Rare Dis ; 18(1): 6, 2023 01 09.
Artículo en Inglés | MEDLINE | ID: mdl-36624503

RESUMEN

The "diagnostic odyssey" describes the process those with undiagnosed conditions undergo to identify a diagnosis. Throughout this process, families of children with undiagnosed conditions have multiple opportunities to decide whether to continue or stop their search for a diagnosis and accept the lack of a diagnostic label. Previous studies identified factors motivating a family to begin searching, but there is limited information about the decision-making process in a prolonged search and how the affected child impacts a family's decision. This study aimed to understand how families of children with undiagnosed diseases decide whether to continue to pursue a diagnosis after standard clinical testing has failed. Parents who applied to the Undiagnosed Disease Network (UDN) at the National Institutes of Health (NIH) were recruited to participate in semi-structured interviews. The 2015 Supportive Care Needs model by Pelenstov, which defines critical needs in families with rare/undiagnosed diseases, provided a framework for interview guide development and transcript analysis (Pelentsov et al in Disabil Health J 8(4):475-491, 2015. https://doi.org/10.1016/J.DHJO.2015.03.009 ). A deductive, iterative coding approach was used to identify common unifying themes. Fourteen parents from 13 families were interviewed. The average child's age was 11 years (range 3-18) and an average 63% of their life had been spent searching for a diagnosis. Our analysis found that alignment or misalignment of parent and child needs impact the trajectory of the diagnostic search. When needs and desires align, reevaluation of a decision to pursue a diagnosis is limited. However, when there is conflict between parent and child desires, there is reevaluation, and often a pause, in the search. This tension is exacerbated when children are adolescents and attempting to balance their dependence on parents for medical care with a natural desire for independence. Our results provide novel insights into the roles of adolescents in the diagnostic odyssey. The tension between desired and realistic developmental outcomes for parents and adolescents impacts if, and how, the search for a diagnosis progresses.


Asunto(s)
Enfermedades no Diagnosticadas , Estados Unidos , Niño , Humanos , Adolescente , Preescolar , Relaciones Familiares , Padres , Enfermedades Raras
6.
J Genet Couns ; 31(5): 1020-1031, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35906848

RESUMEN

Genetic counselors (GCs) have traditionally been trained to adopt a position of equipoise or clinical neutrality. They provide information, answer questions, address barriers, and engage in shared decision-making, but generally, they do not prescribe a genetic test. Historically, GCs have generally been trained not to persuade the ambivalent or resistant patient. More recently, however, there has been discussion regarding when a greater degree of persuasion or directionality may be appropriate within genetic counseling (GC) and what role MI may play in this process. The role for "persuasive GC" is based on the premise that some genetic tests provide actionable information that would clearly benefit patients and families by impacting treatment or surveillance. For other tests, the benefits are less clear as they do not directly impact patient care or the benefits may be more subjective in nature, driven by patient values or psychological needs. For the former, we propose that GCs may adopt a more persuasive clinical approach while for the latter, a more traditional equipoise stance may be more appropriate. We suggest that motivational interviewing (MI) could serve as a unifying counseling model that allows GCs to handle both persuasive and equipoise encounters. For clearly beneficial tests, while directional, the MI encounter can still be non-directive, autonomy-supportive, and patient-centered. MI can also be adapted for equipoise situations, for example, placing less emphasis on eliciting and strengthening change talk as that is more a behavior change strategy than a shared decision-making strategy. The core principles and strategies of MI, such as autonomy support, evocation, open questions, reflective listening, and affirmation would apply to both persuasive and equipoise encounters. Key issues that merit discussion include how best to train GCs both during their initial and post-graduate education.


Asunto(s)
Entrevista Motivacional , Comunicación , Consejo/educación , Asesoramiento Genético , Humanos , Comunicación Persuasiva
7.
J Genet Couns ; 31(6): 1373-1382, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35900228

RESUMEN

Pharmacogenomic (PGx) testing is an increasingly utilized technology that offers the potential for precision drug selection to treat depression. Though PGx-guided therapy is associated with increased rates of remission of depression symptoms, for many patients, treatment will not change based on PGx testing results. Lack of consensus guidelines for pre-test counseling may hinder the communication of PGx testing limitations, and patients often have high expectations for test outcomes. To explore this issue, we created and evaluated the impact of a pre-test education video for patients with depression. Individuals in the education group (n = 198) viewed this brief video about PGx testing prior to completing a survey that explored knowledge, perception, and expectations of PGx testing developed using a theoretical framework to measure intention to test. Individuals in the survey-only group (n = 189) completed the same survey but were not provided with any PGx educational materials. Analyses demonstrate efficacy of the video in improving knowledge of PGx. The education group also reported more positive attitudes and greater perceived control over pursuing PGx testing compared to the survey-only group. Further analyses identified significant differences in expectations, attitudes, and intention to pursue PGx testing based on number of previous medication trials. Path analyses identified the best model for predicting PGx testing intention, specifically that social norms and ease of testing have a strong positive association, and knowledge has a strong negative association with patients' intentions to test across the full sample, the education group, and the survey-only group. The findings of this study serve as a foundation for future tailored educational initiatives in the PGx testing space.


Asunto(s)
Motivación , Pruebas de Farmacogenómica , Humanos , Farmacogenética/educación , Farmacogenética/métodos , Antidepresivos/uso terapéutico , Encuestas y Cuestionarios
8.
J Huntingtons Dis ; 11(3): 337-346, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35570496

RESUMEN

BACKGROUND: Health information-seeking is a coping strategy used globally by individuals with a personal or family history of a medical condition, including Huntington's disease (HD). OBJECTIVE: We sought to ascertain information-seeking practices of young people who grew up at-risk for HD. METHODS: Participants ages 18-25 were recruited from HD support organizations. An online 96-item survey assessed information-seeking motivations and timing as well as information topics accessed, sources, and needs. RESULTS: Fifty young adults (mean age 22.2 years) who grew up at-risk for HD responded. HD had been generally kept a secret (35.4%) or talked about but difficult to bring up (43.8%) in many families. Most (78.0%) became aware of HD in their family before age 15. Few (7.1%) received information resources at the time of disclosure. Most (68.1%) first sought information independently online, half within a week of disclosure. Respondents were motivated to understand the potential impact of HD on their personal lives and family members, obtain general information about the condition, and learn about treatments and research. Most sought information on clinical features and inheritance with > 80% interested in information on symptoms and personal risk and > 70% about having children. CONCLUSION: Limited information is provided to young people when first informed about HD in their families leading to independent, mostly online information-seeking. Information is used to build knowledge about HD to facilitate coping and life planning. Healthcare providers can direct young people to reliable resources and guide parents in talking with children to ensure that information needs are met.


Asunto(s)
Enfermedad de Huntington , Adolescente , Adulto , Niño , Familia , Humanos , Enfermedad de Huntington/genética , Enfermedad de Huntington/terapia , Conducta en la Búsqueda de Información , Encuestas y Cuestionarios , Adulto Joven
9.
J Genet Couns ; 31(5): 1102-1112, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35460542

RESUMEN

Transgender and/or gender non-binary (TGNB) individuals face significant health care disparities, including deficiencies in provider knowledge. To address this knowledge gap for genetic counselors, we developed, implemented, and analyzed an educational intervention on gender-affirming genetic counseling (GC) and care for TGNB patients. In partnership with the TGNB community, we designed a 5-module (length = 146 min ± 94 min) genetic counseling-targeted online learning program focused on gender-affirming care (Amplify). Content included elements of gender-affirming care, core components of gender-inclusive GC sessions, and cancer risk assessment/management. Video testimonials featuring TGNB individuals complemented learning within each module. Educational outcomes measured included comfort working with TGNB patients (n = 2 multiple choice questions (MCQs)), impact of education on knowledge (n = 25 MCQs), and clinical self-efficacy based on the Accreditation Council for Genetic Counseling competencies (n = 35 skills). Participants (n = 40), recruited through state and national GC organizations, completed all modules, and pre- and post-education/self-efficacy assessments. Pre-Amplify, 65% (n = 26/40) of participants endorsed feeling 'somewhat comfortable' working with TGNB patients. The average knowledge score was 77.6% (SD = 11.2%) with the lowest scores related to the gender affirmation process. After Amplify, overall knowledge improvement was statistically significant with an average 16.9% (p < 0.001) increase in score. Pre-Amplify, the average self-efficacy score was 78.4% (SD = 15.8%) with lowest scores seen in statements surrounding information gathering of family and medical histories. Post-Amplify, overall self-efficacy improvement was statistically significant with an average 13.8% (p < 0.001) increase in score. Linear regression did not identify an impact of practice specialty on participants' knowledge gains or self-efficacy. This study shows online modules are an effective form of gender-affirming care education for GCs. This intervention can positively improve the care practicing genetic counselors provide to patients and inform future decision-making about the development of gender-affirming care education for genetic counselors.


Asunto(s)
Consejeros , Personas Transgénero , Identidad de Género , Asesoramiento Genético , Disparidades en Atención de Salud , Humanos , Personas Transgénero/psicología
10.
J Genet Couns ; 31(2): 302-315, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34855258

RESUMEN

Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained by passing the American Board of Genetic Counseling (ABGC) certification examination are increasingly required to practice as a genetic counselor in the USA. Despite the ABGC certification examination serving as a gateway to the genetic counseling career, there have been no research studies to date that have examined what variables are associated with examination performance. Therefore, the Association of Genetic Counseling Program Directors established a Task Force to assess whether trainee demographics, Grade point average (GPA) and Graduate Record Exam (GRE®) percentile scores are associated with passing the ABGC certification examination on the first attempt. We surveyed accredited genetic counseling graduate programs in North America and gathered demographic data, admissions variables, and certification examination outcome data for 1,494 trainees from 24 training programs, representing approximately 60.5% of matriculants between 2007 and 2016. Univariable analysis was performed to assess associations between admissions variables and categorical outcome (pass vs. fail) on the certification examination using Wilcoxon rank-sum or Fisher's exact test. Variables significantly associated with the categorical board outcome were then entered in a stepwise model selection procedure. In stepwise logistic regression, trainees with higher GPA (OR = 3.41; 95% CI = 1.99, 5.83), higher verbal (OR = 1.02; 95% CI = 1.01, 1.03) and quantitative (OR = 1.02; 95% CI = 1.01, 1.03) GRE® scores, female trainees (OR = 2.95; 95% CI = 1.70, 5.12), and White trainees (OR 3.37; 95% CI = 2.14, 5.30) had higher odds of passing the certification examination on the first attempt. As programs move to a holistic approach to graduate admissions in order to improve access to the genetic counseling profession, our results may influence programs to provide additional preparation for the certification examination for all trainees. In addition, genetic counseling professional organizations should continue to work together to assess and eliminate outcome disparities in admissions, training, and certification processes.


Asunto(s)
Consejeros , Asesoramiento Genético , Acreditación , Certificación , Demografía , Femenino , Humanos , Estados Unidos
11.
J Genet Couns ; 30(5): 1325-1335, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34665887

RESUMEN

The COVID-19 pandemic has upended genetic counseling (GC) graduate students' lives, as they have been forced to transition, manage, and acclimate to life during a pandemic. The current study is a first step in understanding their lived experiences during this historic, global event. We investigated academic and personal challenges, intolerance of uncertainty, and psychological well-being of GC students (n = 248) who trained during the pandemic (GC-COV cohort) and those who did not (GC-NoCOV cohort). Participants completed an online survey (July-September 2020) that used validated measures of Intolerance of Uncertainty and Psychological Well-Being. To assess the academic and personal challenges students experienced during GC graduate training, we developed a 43-item measure. Principal axis factoring of the items revealed categories of challenges related to the following: Academic & Professional Development, Self-Regulation & Resilience, Institutional & Program Leadership, and Financial Stability. There was no cohort difference in Psychological Well-Being. Linear mixed-effects modeling showed significant cohort differences in challenges. Multiple linear regression analyses revealed that the GC-COV cohort's Psychological Well-Being was statistically significantly predicted by Institutional & Program Leadership challenges (p = .029), Self-Regulation & Resilience challenges (p = .013), and Intolerance of Uncertainty (p = .010). For the GC-NoCOV cohort, the statistically significant predictor of Psychological Well-Being was Self-Regulation & Resilience challenges (p = .029). Our findings demonstrate that GC students training during the COVID-19 pandemic have experienced various personal, academic, and psychological disruptions and highlight a need to develop resources and implement interventions supporting students' academic development and psychological well-being.


Asunto(s)
COVID-19 , Pandemias , Asesoramiento Genético , Humanos , América del Norte , SARS-CoV-2 , Estudiantes , Incertidumbre
12.
PLoS One ; 16(7): e0255278, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34297771

RESUMEN

BACKGROUND: Over the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditions. Congenital anomalies, the most common NCD affecting children, have recently become the fifth leading cause of under-five mortality worldwide, ahead of other conditions such as malaria, neonatal sepsis and malnutrition. Genetic counseling has been shown to be an effective method to decrease the impact of congenital anomalies and genetic conditions but is absent in almost all sub-Saharan Africa countries. To address this need for counseling services we designed and implemented the first broad-based genetic counseling curriculum in Ethiopia, launching it at St. Paul's Millennium Medical College (SPHMMC) in Addis Ababa, Ethiopia. METHODS: The curriculum, created by Michigan Medicine and SPHMMC specialists, consisted of medical knowledge and genetic counseling content and was delivered to two cohorts of nurses. Curriculum evaluation consisted of satisfaction surveys and pre- and post-assessments covering medical knowledge and genetic counseling content. Following Cohort 1 training, the curriculum was modified to increase the medical knowledge material and decrease Western genetic counseling principles material. RESULTS: Both cohorts reported high levels of satisfaction but felt the workshop was too short. No significant improvements in assessment scores were seen for Cohort 1 in terms of total scores and medical knowledge and genetic counseling-specific questions. Following curriculum modification, improvements were seen in Cohort 2 with an increase in total assessment scores from 63% to 73% (p = 0.043), with medical knowledge-specific questions increasing from 57% to 79% (p = 0.01) with no significant change in genetic counseling-specific scores. Multiple logistic, financial, cultural and systems-specific barriers were identified with recommendations for their consideration presented. CONCLUSION: Genetics medical knowledge of Ethiopian nurses increased significantly following curriculum delivery though difficulty was encountered with Western genetic counseling material.


Asunto(s)
Asesoramiento Genético , Genética Médica/educación , Características Culturales , Curriculum , Etiopía , Humanos
13.
Disabil Rehabil ; 43(24): 3562-3573, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-32255374

RESUMEN

AIM: Most studies on parenting children with Down syndrome and other intellectual disabilities have focused on stress and coping; however, research has shown many rewards in parenting such children. Additionally, most research has assessed mothers' rather than fathers' perspectives. To take steps toward filling these literature gaps, we asked fathers of children with Down syndrome about their parenting experiences. METHODS: Participants were 175 fathers of children with Down syndrome. Open-ended questions asked fathers what they found most rewarding and challenging about parenting a child with Down syndrome. Researchers coded responses using inductive content analysis. RESULTS: Key themes for rewards included: (1) Child's Positive Attributes and Behaviors; (2) Rewarding Father-Child Relationship; (3) Child Has Positively Changed Father; and (4) Father's Positive Relationship with Others. Key themes for challenges included: (1) Father's Thoughts, Emotions, and Behaviors; (2) Child's Challenging Behavior and Development; (3) System and Institutional Problems; and (4) Other People's Negative Attitudes/Behaviors. CONCLUSIONS: Rewards mainly concerned the father-child bond and the loving, happy child. Fathers rarely mentioned financial stressors or their children's negative behaviors. Instead, many fathers reported children's speech problems. Our findings may assist healthcare professionals in providing more beneficial resources and interventions (especially language-related ones) to families with a child with Down syndrome.Implications for rehabilitationConsistent with a positive psychology approach, fathers reported more rewards than challenges in raising a child with Down syndrome.There may be a need for greater involvement of fathers in language interventions for children with Down syndrome.Healthcare professionals can assist parents of children with Down syndrome in recognizing parenting rewards.


Asunto(s)
Síndrome de Down , Responsabilidad Parental , Relaciones Padre-Hijo , Femenino , Humanos , Madres , Recompensa
14.
J Community Genet ; 11(1): 119-123, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31020639

RESUMEN

Cancer genetic services are underutilized by high-risk clients in community-based health settings. To understand this disparity, 108 Planned Parenthood high-risk clients completed a utilization-focused survey. Clients expressed interest (78.8%) and intention (75.0%) in seeking genetic services. Personal/familial implications for cancer risk were the strongest motivators for seeking services (63.0-79.6%). Finances (39.6%) and worry (37.0%) were the biggest barriers. To reduce disparities in access to cancer genetics services, clinicians must understand clients' concerns and tailor their recommendations.

15.
J Genet Couns ; 29(1): 67-77, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31721370

RESUMEN

This study assessed genetic counselors' (GCs) perceptions of delegation as a tool to increase workforce efficiency and help meet the current gap between the number of genetic service providers and the number of patients. GCs were recruited to participate via an online survey that assessed activities (categorized as typical genetic counseling, administrative, or professional development) performed by a clinical genetic counselor. Respondents indicated which activities represent their largest time consumers, their willingness to delegate these activities, and barriers to and perceived outcomes of delegation. Overall, respondents indicated that they spend 25% of their time performing administrative activities that they would largely be willing to delegate; however, respondents were generally unwilling to delegate many typical genetic counseling and professional development activities, citing concerns regarding accuracy and liability, and highlighting the belief that these activities constitute the core role of a genetic counselor. Respondents indicated that delegation of time-consuming administrative activities would increase access to genetic services and improve job satisfaction. Additionally, differences were identified among clinical specialties regarding which activities were selected as top time consumers, indicating that potential targets of re-allocation of time or delegation may be variable. This research indicates a need to reduce the number of administrative tasks in which GCs are directly involved to re-allocate time toward core responsibilities, direct patient care, and professional development, the result of which is more efficient use of the GC skill-set.


Asunto(s)
Actitud del Personal de Salud , Consejeros/psicología , Asesoramiento Genético/psicología , Femenino , Humanos , Satisfacción en el Trabajo , Masculino , Encuestas y Cuestionarios , Recursos Humanos
16.
Semin Pediatr Surg ; 28(5): 150838, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31668291

RESUMEN

Decisions about how best to clinically care for young children born with Disorders of Sex Development (DSD) can be challenging because some decisions are irreversible, have lasting physical and mental health effects, and are frequently made before the affected person is able to participate in decision-making. This multi-stage study involved (1) the development of a web-based decision support tool (DST) for parents of infants or young children and the clinicians caring for them; (2) the assessment of communications and decision making between DSD specialists and parents both before and after introduction of the DST; and (3) interviews with a broad range of stakeholders regarding optimizing the DST and integrating it into usual care. Experience over the course of the 3 stages of this research suggests the need for further refinement of the DST to increase acceptability to all stakeholder groups, the necessity to address misperceptions by providers that they are already accomplishing all aspects of SDM in regular care without a DST and misunderstandings by parents that decisions are unnecessary because only a single option is apparent, and to better incorporate the tool into regular clinic workflow.


Asunto(s)
Toma de Decisiones Conjunta , Técnicas de Apoyo para la Decisión , Trastornos del Desarrollo Sexual/terapia , Padres , Niño , Comunicación , Humanos
17.
J Perinat Neonatal Nurs ; 33(4): E3-E14, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31651631

RESUMEN

Prenatal genetic screening (GS) for the most common autosomal aneuploidies encompasses maternal serum screening (MSS) and noninvasive prenatal testing (NIPT, or cell-free fetal DNA testing). In the United States, most maternity care is provided by obstetrician-gynecologists; however, women are increasingly utilizing the services of certified nurse-midwives (CNMs). Currently, limited research exists on midwives' experiences with providing prenatal GS. Therefore, the purpose of this study was to explore CNMs' experiences in providing prenatal GS. A semistructured guide focused on MSS and NIPT was used to interview a convenience sample of 13 CNMs. Results were coded and analyzed using grounded theory to elicit overarching themes. Results were organized into 6 themes describing CNMs' prenatal GS provision: (1) clinical protocols; (2) patient education; (3) patient-CNM shared decision-making process; (4) testing initiation; (5) results delivery; and (6) follow-up coordination. Key influences on midwives' perspectives on offering prenatal GS included a noninterventionist approach to pregnancy and past experiences with false-positive MSS results. Participants had an understanding of prenatal GS that was appropriate to midwifery scope of practice. Results indicate that NIPT utilization is compatible with the midwifery philosophy of noninterventionism, although midwives had limited experiences with NIPT to date.


Asunto(s)
Pruebas Genéticas/métodos , Partería/métodos , Relaciones Enfermero-Paciente , Pautas de la Práctica en Enfermería , Diagnóstico Prenatal , Adulto , Actitud del Personal de Salud , Femenino , Humanos , Enfermeras Obstetrices/psicología , Aceptación de la Atención de Salud , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/psicología , Investigación Cualitativa , Estados Unidos
18.
J Genet Couns ; 28(6): 1130-1138, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31469212

RESUMEN

Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans for complex pediatric patients, we assessed result understanding and utilization. Twenty-seven PCPs of pediatric patients with ES results from a genetics clinic completed a mixed methods 45-question survey measuring perceived genetics knowledge, confidence performing genetics tasks, understanding of ES technology and results, and expectations of GHP. Quantitative and qualitative data analysis classified by ES result types generated descriptive statistics, Pearson correlation coefficients, and common themes. Forty-five-percent of PCPs interpreted variant of uncertain significance results as diagnostic (implementing management changes and recommending familial testing). Most PCPs (85%) identified positive ES results impacts, but only 65% indicated ES was beneficial to care. The majority (74%) expected GHP and patients' families to assume follow-up care responsibility and future ES results re-interpretations. Limited knowledge may be a factor, as 59% desired more patient care information from GHP. Our results suggest optimizing continuity of care and collaboration for pediatric patients with ES results requires additional communication between GHP and PCPs, along with continuing genetics education for PCPs aimed at improving genetic literacy.


Asunto(s)
Comprensión , Médicos de Atención Primaria/psicología , Actitud del Personal de Salud , Niño , Comunicación , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Secuenciación del Exoma
19.
Sociol Health Illn ; 41(8): 1520-1534, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31225650

RESUMEN

Based on audio recordings of consultations in three U.S. paediatric multidisciplinary Disorders of Sex Development-Intersex clinics, we examine the process of gender assignment of children with "atypical" genitalia. Rather than fully determined by the presence of biological sex traits, the gender assignment discussion hinges on how clinician and parent collaboratively imagine different aspects of what constitutes being a gendered person. They orient towards the potential for sexual intimacy, fertility, gender dysphoria, stigma, and gonadal cancer risk. While these futures remain inherently uncertain, clinicians and parents plan to mobilise gender socialisation and medical interventions to render their choice of gender a self-fulfilling prophecy. Gender destinies capture that the child always had a specific, innate gender awaiting discovery, and presumes a project for medical and social monitoring, intervention, correction, and optimisation.


Asunto(s)
Toma de Decisiones , Trastornos del Desarrollo Sexual/cirugía , Identidad de Género , Padres/psicología , Incertidumbre , Adulto , Preescolar , Trastornos del Desarrollo Sexual/diagnóstico , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estigma Social
20.
J Community Genet ; 10(1): 51-60, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29508367

RESUMEN

Healthcare disparities exist in the provision of cancer genetic services including genetic counseling and testing related to BRCA1/2 mutations. To address this in a community health setting a screening tool was created to identify high-risk women. This study evaluates the implementation of the tool and identifies opportunities for improved cancer genetic screening, including regular clinician education. A mixed-method approach was used to evaluate clinician utilization of the screening tool at Planned Parenthood affiliates. Novel surveys that evaluated acceptance and implementation were administered to clinicians (n = 14) and semi-structured interviews (n = 6) were used to explore clinicians' perspectives and identify gaps in its utilization. Educational modules that addressed gaps were developed, implemented, and evaluated using a post-education survey (n = 8). Clinicians reported confidence in administering and interpreting the screening tool, but reported less confidence in their knowledge of cancer genetics and ability to connect clients with genetic counseling and testing (p = .003). Educational modules resulted in significant gains in clinician knowledge on genetic topics (p < .05) and increased self-reported confidence in connecting clients with genetic services. The modules reinforced the belief that genetic testing is beneficial for patients at increased risk (p = .001) and is important to inform subsequent medical management (p = .027). While building community clinicians' capacity to connect clients with genetic services is crucial, it is challenged by knowledge and confidence gaps in discussions of genetic services with clients. Consistent genetic-focused education with non-genetic clinicians can improve confidence and knowledge, enabling a more effective screening program in community health settings.

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