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INTRODUCTION: Global health, a practice that prioritizes improving health and achieving health equity for all people worldwide, is a priority for pharmacists, schools, and pharmacy colleges. Several initiatives aim to enhance faculty and student exchanges while promoting projects and initiatives among thriving universities and under-resourced countries and institutions. While many organizations recognize the benefit of global collaboration, as demonstrated by the adoption of the 2012 American Association of Colleges of Pharmacy Strategic Plan, which calls for increased global experiences for faculty and students, the COVID-19 pandemic created a demand for international engagement within pharmacy practice. The objective of this study was to evaluate students' perceptions and attitudes toward incorporating a global pharmacy pen pal (PPP) exchange within the pharmacy curricula at two schools/colleges of pharmacy. METHODS: This mixed-method study included assigned engagement within a required or elective didactic course, followed by a post-experience survey. Each student was pre-assigned a pen pal from a cohort of pharmacy students residing in 11 countries for the assignment. RESULTS: In total, 184 students completed the learning experience, and across both sites, 63 students completed the post-experience survey. The students' impressions of the PPP varied by site, yet most participants reported an improved awareness of pharmacy practice in other countries.
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COVID-19 , Educación en Farmacia , Estudiantes de Farmacia , Humanos , Estados Unidos , Educación en Farmacia/métodos , Farmacéuticos , Proyectos Piloto , PandemiasRESUMEN
PURPOSE: Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families. METHODS: The ClinGen Brain Malformation Variant Curation Expert Panel was formed to curate somatic variants associated with developmental brain malformations. We selected the genes AKT3, MTOR, PIK3CA, and PIK3R2 as the first set of genes to provide additional specifications to the 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) sequence variant interpretation guidelines, which currently focus solely on germline variants. RESULTS: A total of 24 of the original 28 ACMG/AMP criteria required modification. Several modifications used could be applied to other genes and disorders in which somatic variants play a role: 1) using variant allele fraction differences as evidence that somatic mutagenesis occurred as a proxy for de novo variation, 2) incorporating both somatic and germline evidence, and 3) delineating phenotype on the basis of variable tissue expression. CONCLUSION: We have established a framework for rigorous interpretation of somatic mosaic variants, addressing issues unique to somatic variants that will be applicable to many genes and conditions.
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Encéfalo , Anomalías Congénitas , Variación Genética , Genoma Humano , Humanos , Encéfalo/patología , Fosfatidilinositol 3-Quinasa Clase I/genética , Anomalías Congénitas/genética , Pruebas Genéticas , Variación Genética/genética , Mutación , Fosfatidilinositol 3-Quinasas , Proteínas Proto-Oncogénicas c-akt/genética , Serina-Treonina Quinasas TOR/genéticaRESUMEN
In 2019, the American College of Medical Genetics and Genomics and the Clinical Genome Resource published updated technical standards for the interpretation and reporting of copy number variants (CNVs), introducing a semiquantitative classification system to improve standardization and consistency between laboratories. Evaluation of these guidelines' performance will inform laboratories about the impact of their implementation into clinical practice. A total of 145 difficult-to-classify CNVs, originally assessed by an academic molecular diagnostic laboratory, were re-interpreted/classified according to the American College of Medical Genetics and Genomics-Clinical Genome Resource guidelines. Classifications between interpretation systems were then compared. The concordance rate was 60.7%, and significantly more variants of uncertain significance were obtained when using the guidelines (n = 98) versus the laboratory's classification system (n = 49; P < 0.001). The concordance rate was presumably impacted by the intentionally unclear nature of the selected variants. The difference in variant of uncertain significance rate was largely due to laboratory-specific practices for variant interpretation and reporting and differences in utilization of general population data. Laboratory-specific policies and practices may need to be addressed for true standardization. Challenges to consistent guideline utilization are centered around the general lack of high-quality curated data available for CNV interpretations and the inherent subjectivity in the selection of evidence criteria and application of evidence points. Multiple aspects of the guidelines were highlighted to further improve classification standardization.
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Variaciones en el Número de Copia de ADN , Genética Médica , Variaciones en el Número de Copia de ADN/genética , Pruebas Genéticas , Variación Genética , Genómica , Humanos , Estados UnidosRESUMEN
Preimplantation genetic testing for monogenic disorders (PGT-M) was originally developed to identify embryos affected with serious childhood-onset disorders, but its use has recently broadened. Guidance on the use of PGT-M in the United States (U.S.) is currently limited, with no formal laws or guidelines established on its use. The goals of this study were to determine for which types of conditions U.S. laboratories currently do not offer PGT-M, to explore ethical considerations U.S. laboratory genetic counselors (GCs) take into consideration when deciding to accept or reject a PGT-M request, and to explore whether U.S. laboratory GCs believe PGT-M should be offered for conditions with reduced penetrance or for variants of uncertain significance (VUS). Qualitative analysis of semi-structured interviews with nine genetic counselors, from five different PGT-M laboratories, was conducted. Participants were required to be GCs working at a PGT-M laboratory in the U.S. and either actively counsel patients on PGT-M or determine a patient's eligibility for PGT-M. Two participants reported their separate laboratories have no limitations for allowable PGT-M testing, while the other seven participants representing three other laboratories reported having limitations. The main ethical consideration GCs reported considering when deciding to accept or reject a PGT-M request was patient autonomy, with a focus on the patient understanding risks of the testing. All participants reported believing PGT-M should be allowable for conditions with reduced penetrance and VUS, with all participants stating their respective laboratories allow for this currently. However, all participants reported a lack of sufficient guidelines and that having guidelines from a professional organization would be beneficial to their practice. In conclusion, lack of current guidelines in the United States has created discrepancies between PGT-M laboratories. PGT-M laboratory GCs support the use of PGT-M for conditions with reduced penetrance and VUS with informed consent. The need for guidelines is supported.
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Consejeros , Diagnóstico Preimplantación , Niño , Femenino , Pruebas Genéticas , Humanos , Laboratorios , Penetrancia , Embarazo , Estados UnidosRESUMEN
PURPOSE: Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and perceived utility of EGT. METHODS: Adult adoptees and non-adoptees completed an anonymous, online survey regarding their interest and motivations for EGT, perceived utility of potential results and willingness to pay for EGT. A validated measure of social identity was included to measure the effects of social identity on testing interest. RESULTS: There were 112 adoptees and 229 non-adoptees included in the study. Adoptees reported greater interest in EGT (OR 5.0, 95% CI 2.2 to 11.3) than non-adoptees. They were motivated by curiosity and a desire to learn information about risks to children and grandchildren more than non-adoptees. Adoptees with higher education and non-adoptees with higher incomes were significantly more likely to spend more on EGT. Adoptees with higher incomes and non-adoptees with higher education were not significantly more likely to spend more. Social identity was a significant mediator between adoption and testing motivation. CONCLUSION: Understanding adoptees' unique motivations and interests in EGT will allow healthcare providers to better address the informational needs and desires of this population. Social identity provides a foundation for recognising adoptees' universal experiences that influence motivations for genetic testing.
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Adopción , Pruebas Genéticas , Adopción/psicología , Adulto , Escolaridad , Femenino , Pruebas Genéticas/economía , Humanos , Masculino , Persona de Mediana Edad , Motivación , Aceptación de la Atención de Salud/psicología , Identificación Social , Encuestas y CuestionariosRESUMEN
Objective. To determine pharmacy students' perspectives regarding opioid use, the opioid crisis, and pharmacy education related to both topics.Methods. Students from each professional year at eight participating schools and colleges of pharmacy were invited to participate in focus groups and answer questions about their experiences with the opioid crisis. Faculty and/or staff moderated the focus groups and audio-recorded responses. Recordings were deidentified, transcribed, and analyzed.Results. One hundred fifty students participated in one of 29 focus groups conducted. Responses were categorized according to themes using consensual qualitative research (CQR) methodology. Sources impacting student views on the crisis included school, personal and work experience, and media. Perspective changes since starting school included increased knowledge and awareness and decreased bias/stigma.Conclusion. Conducting focus groups on the opioid crisis provided pharmacy schools with information on what student pharmacists are learning about the crisis, practices they see, and their recommendations to address the crisis. Pharmacy schools can better prepare students to combat the opioid crisis by providing them with training in opioid counseling, use of naloxone, and how to have difficult conversations with patients.
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Educación en Farmacia , Estudiantes de Farmacia , Humanos , Epidemia de Opioides , Farmacéuticos , Investigación CualitativaRESUMEN
Individualized drug delivery improves drug efficacy and safety for patients. To implement individualized drug delivery, patient-specific tailored dosages produced on a small scale are needed. However, current pharmaceutical manufacturing is not suitable for personalized dosage forms. Although convenient to deliver various drugs, current gelatin capsules using animal collagen protein have many limitations, such as releasing drugs too fast and incompatibility with some diets. In contrast, 3D printed capsules have great potential to advance individualized treatments. In this paper, we 3D printed and tested non-animal-based capsule shells for the delivery of acetaminophen. Capsule shells were composed of poly(vinyl) alcohol (PVA) and PVA blends with 5-25% hydroxypropyl methylcellulose (HPMC). Dissolution of acetaminophen when delivered in -hese capsule shells was tested using a USP dissolution test apparatus 2 (paddle type) at gastric pH. The novel shells were compared to each other and to commercially available hard gelatin capsules. Dissolution results show that acetaminophen when delivered in 3D printed capsules was slower than when delivered by gelatin capsules. Increasing the percentage of HPMC in the blend further delayed its release and dissolution. This delay could potentially increase the efficacy and reduce the side effects of acetaminophen. These shells also offer a non-animal-based alternative to gelatin capsules. Furthermore, 3D printing of capsule shells with specific polymer blends may be useful for patient-specific therapy in compounding pharmacies across the country.
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Acetaminofén , Gelatina , Animales , Cápsulas , Humanos , Derivados de la Hipromelosa , Impresión Tridimensional , SolubilidadRESUMEN
We review here the pharmacology, pharmacokinetics, efficacy, dosage and administration, and place in therapy of tirbanibulin for the treatment of actinic keratosis (AK). A literature search using PubMed was conducted using the terms tirbanibulin (tirbanibulin) and actinic keratosis from September 2014 to February 2021. All English-language articles evaluating tirbanibulin were analyzed for this review. Tirbanibulin was granted approval for the treatment of AK of the face or scalp as a first-line therapy. It is administered at a dose of 2.5 mg in 250 mg of white or off-white ointment for a 25 cm2 contiguous treatment surface for 5 consecutive days. Adverse effects include flaking/scaling, crusting, swelling, vesiculation/pustulation, and erosion/ulceration. This article discusses the clinical trials that led to the approval of tirbanibulin and comparison with other approved topical ointments indicated for the treatment of AK. In the clinical trials, all participants experienced a decrease in lesion size or saw complete clearance with minimal adverse effects.
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Queratosis Actínica , Administración Tópica , Humanos , Queratosis Actínica/tratamiento farmacológico , Pomadas/uso terapéutico , Inhibidores de Proteínas Quinasas/uso terapéutico , Resultado del TratamientoRESUMEN
PURPOSE: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. METHODS: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. RESULTS: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. CONCLUSION: Limited information exists on X-linked carriers' risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.
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Tamización de Portadores Genéticos/métodos , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Heterocigoto , Evaluación de Necesidades/normas , Adulto , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/prevención & control , Humanos , Persona de Mediana Edad , Embarazo , Encuestas y CuestionariosRESUMEN
INTRODUCTION: We sought to identify challenges and possible outcomes for pharmacy schools providing accommodations on experiential rotations for students with disabilities. METHODS: A survey was developed and sent to the experiential education departments of pharmacy schools across the nation and anonymous responses were collected. Quantitative survey results were assessed using descriptive statistics, and qualitative results were assessed using thematic analysis. RESULTS: A total of 43 individuals who self-identified as current members of the experiential education department of their school responded to the survey. Student, preceptor, and institutional challenges and barriers were identified, and various approaches to providing accommodations for students with disabilities during experiential rotations were described. CONCLUSIONS: Providing accommodations for students on experiential rotations remains a challenge for pharmacy programs. However, guidance for pharmacy schools on proper support of students with disabilities on experiential rotations remains limited.
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Personas con Discapacidad , Educación en Farmacia , Estudiantes de Farmacia , Humanos , Preceptoría , Facultades de Farmacia , Estados UnidosRESUMEN
PURPOSE: To explore facilitators and barriers for male partner follow through carrier screening (CS) after their female partners were identified as carriers, from both male and female perspectives. METHODS: Participants were either females identified as a carrier through CS (512 participants) or males who had CS (125 participants). Participants were recruited via e-mails with survey links. The survey explored factors surrounding decisions to pursue CS or not. RESULTS: Males who attended the females' CS appointment were more likely to have CS (OR: 2.07). More male partners of females identified as carriers of severe or profound conditions pursued CS (82.0%) than male partners of females who were carriers for moderate conditions (50.0%). Logistic factors were more impactful for males who pursued CS. Females whose male partners did not test endorsed personal belief factors as most impactful, reporting the perceived low risk (75.0%) and his low concern for the specific condition (65.5%) were the top reasons their partners did not test. CONCLUSION: Many factors impact how male partners appraise reproductive risk from CS and make decisions regarding their own screening. Advising that male partners attend CS appointments may increase the likelihood of follow through CS. Thorough and repeated risk counseling is indicated.
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Tamización de Portadores Genéticos , Asesoramiento Genético/psicología , Heterocigoto , Medicina Reproductiva , Adulto , Femenino , Pruebas Genéticas , Humanos , Masculino , Reproducción/genética , Encuestas y CuestionariosRESUMEN
Diabetes mellitus (DM) is a public health concern and a burden on the older adult population. Management among older adults can be arduous because of potential complications, especially in various long-term care settings. This manuscript outlines recent updates in geriatric care concerning DM and will discuss guidelines for management of DM in older adults, specifically in long-term care. It is crucial to analyze comorbidities and develop individualized treatment goals to improve overall quality of care.
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Diabetes Mellitus , Cuidados a Largo Plazo , Anciano , Comorbilidad , HumanosRESUMEN
OBJECTIVE: We review here the pharmacology, pharmacokinetics, efficacy, safety, dosage and administration, potential drug-drug interactions and place in therapy of brigatinib for abnormal anaplastic lymphoma kinase (ALK) specific non-small-cell lung cancer (NSCLC). DATA SOURCES: A literature search using PubMed was conducted using the terms brigatinib and ALK positive NSCLC from January 2013 to November 2018. STUDY SELECTION AND DATA EXTRACTION: All English-language articles evaluating brigatinib were analyzed for this review. DATA SYNTHESIS: Brigatinib was granted approval for the treatment of patients with metastatic ALK+ NSCLC who have progressed on or are intolerant to crizotinib. It is administered at a dose of 90 mg orally once daily for the first 7 days then, if tolerated, increased to a dose of 180 mg orally once daily. Common adverse effects include nausea, fatigue, diarrhea, increased creatine phosphokinase levels, headache, dyspnea, and hypertension. Serious treatment-emergent adverse effects were pulmonary related. Relevance to Patient Care and Clinical Practice: This article discusses the clinical trials that led to the accelerated approval of brigatinib for its ability to overcome crizotinib-resistant mutations and for its increased central nervous system penetration properties. CONCLUSION: Brigatinib was granted accelerated approval for the treatment of patients with metastatic ALK+ NSCLC who have progressed on or are intolerant to crizotinib. In a subset of NSCLC patients, brigatinib increases survival for approximately 1 year; however, side effects were detected.
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Antineoplásicos/uso terapéutico , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Compuestos Organofosforados/uso terapéutico , Inhibidores de Proteínas Quinasas/uso terapéutico , Pirimidinas/uso terapéutico , Antineoplásicos/farmacología , Femenino , Humanos , Compuestos Organofosforados/farmacología , Inhibidores de Proteínas Quinasas/farmacología , Pirimidinas/farmacologíaRESUMEN
Adoptees may not have family medical history and ethnicity information. Carrier screening assesses reproductive risk. Expanded carrier screening (ECS) screens for many genetic conditions regardless of a patient's knowledge of family history and ethnicity. This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient's reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful. Adult adoptees (N = 124) were recruited online. Their opinions on ECS were explored. The majority reported they had never been offered carrier screening (92%). The majority of adoptees wanted ECS (76%). Neither the amount of contact with biological relatives nor having medical knowledge about biological relatives was significantly associated with adoptees' desire to pursue ECS. There was a significant positive correlation between adoptees of higher education levels and the amount they would pay for ECS (p = 0.004). The majority of participants (95%) indicated a genetics professional would be helpful when undergoing ECS. The findings suggest this population may want ECS and support from genetics healthcare professionals. Advocacy for genetic counseling and testing for adoptees appears justifiable.
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Adopción , Tamización de Portadores Genéticos , Asesoramiento Genético , Conocimientos, Actitudes y Práctica en Salud , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto JovenRESUMEN
In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, as well as guidance on identifying those who are at risk. We provide considerations for cardiac surveillance in pregnancy and the post-partum period. Finally, key psychosocial issues that appraise how to best provide support to at risk women as they make informed decisions are discussed. We propose that a team approach including cardiology, maternal fetal medicine, and genetic counseling best serves this patient population. Ongoing questions addressing an evidence based approach to cardiovascular genetic conditions in pregnancy still remain. Thus, well-designed research protocols are essential to mark progress in this area.
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Enfermedades Cardiovasculares/congénito , Enfermedades Cardiovasculares/diagnóstico , Consejeros/normas , Asesoramiento Genético/normas , Complicaciones Cardiovasculares del Embarazo/diagnóstico , Diagnóstico Prenatal/normas , Adulto , Femenino , Humanos , Embarazo , Factores de RiesgoRESUMEN
Introduction: Engagement of patient and advocacy group stakeholders is increasingly considered essential to meaningful outcomes research. Patient-centred research benefits from partnership formation between patients, clinicians and research team members. Here, we describe the rationale for engaging patients on a research team and a case study of patient engagement on an asthma shared decision-making study. Methods: Here, we describe a case study of patient engagement in outcomes research and examine the variety of roles patients are engaged in and the associated impact on the study. Results: Patients assisted the project at various levels and were integrated into the research team by (i) advising on study development; (ii) assisting with design and usability of study materials, including the toolkit, patient surveys and dissemination strategies; and (iii) advocacy via membership in external disease-specific organizations and participating in outcomes research conferences. Patients were engaged both individually and as members of a patient advisory board. Primary lessons learned were the importance of building a trusting partnership with patients through understanding perspectives, being aware of clearly explaining patients' roles, research methods and jargon, providing training, listening to patients' needs and understanding what the partnership means from a patient perspective. Conclusions: For the case study described, patient engagement directly influenced multiple aspects of the study, including study design, implementation, data analysis and dissemination through incorporation of the patients' and caregivers' input and concerns.
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Asma/terapia , Toma de Decisiones , Estudios de Casos Organizacionales , Participación del Paciente/psicología , Comités Consultivos/organización & administración , Grupos Focales , Humanos , North Carolina , Evaluación de Resultado en la Atención de Salud , Relaciones Médico-Paciente , Atención Primaria de Salud , Proyectos de InvestigaciónRESUMEN
Women with BRCA mutations are inundated with decisions about managing cancer risks and childbearing considerations. Decisions become more complicated when women face disclosing their mutation and risk-reduction options to a romantic partner. This study identifies the concerns and perspectives of male romantic partners regarding these unique decisions. Twenty-five male participants completed an online survey posted to cancer support group message boards. Participants reported relationship changes regarding intimacy levels (n = 9), attraction (n = 2), and communication (n = 22) after mutation disclosure. Participants whose partners had not undergone prophylactic mastectomy (n = 14) reported concerns regarding sexual relations (n = 5), post-surgical appearance (n = 2), post-surgical attraction (n = 5), and health/lifespan (n = 9). Participants did not express attitude changes toward childbearing. While mutation disclosure conversations and surgical options are concerns for many BRCA mutation carriers in relationships, male partners share these concerns. Aspects of the relationship may change, but male study participants continued to support their partners. This information can benefit female BRCA mutation carriers, their current or future partners, and genetic counselors working with this particular population.
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Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/psicología , Análisis Mutacional de ADN , Asesoramiento Genético/psicología , Conocimientos, Actitudes y Práctica en Salud , Heterocigoto , Sexualidad , Esposos/psicología , Adulto , Femenino , Humanos , Masculino , Matrimonio , Mastectomía/psicología , Persona de Mediana Edad , Conducta de Reducción del Riesgo , AutorrevelaciónRESUMEN
Uncertainty is central to the experience of genetic decision making and counseling about cancer risk. Women seeking genetic counseling about their breast cancer risk may experience a great deal of uncertainty about issues related to their daughters. We used a theory of Communication and Uncertainty Management to guide analysis of sources of uncertainty about daughters that emerged during 16 video-recorded and transcribed conversations between mothers at risk for a BRCA 1/2 mutation and their genetic healthcare practitioners. An interpretive design and constant comparative method revealed three dominant patterns or themes representing sources of uncertainty mothers have relating to their daughters: disease risk, future cancer screening, and communication of related information to daughters. Both practitioners and mothers discussed these aspects of uncertainty. The findings identify the significant role uncertainty and familial concerns play in mothers' genetic testing decision making process. To assist genetic practitioners, we highlight daughter-related concerns that mothers are uncertain about and which are vital to their genetic counseling needs.