Background A critical step in access to genetic testing for hereditary cancer syndromes is referral for genetic counseling to assess personal and family risk. Individuals meeting testing guidelines have the greatest need to be evaluated. However, referrals to genetics are underutilized in US patients with hereditary cancer syndromes, especially within traditionally underserved populations, including racial and ethnic minorities, low-income, and non-English speaking patients. Methods We studied existing processes for referral to genetic evaluation and testing for hereditary cancer risk to identify areas of potential improvement in delivering these services, especially for traditionally underserved patients. We conducted a retrospective review of 820 referrals to the Kaiser Permanente Northwest (KPNW) genetics department containing diagnosis codes for hereditary cancer risk. We classified referrals as high- or low-quality based on whether sufficient information was provided to determine if patients met national practice guidelines for testing. Through chart abstraction, we also assessed consistency with practice guidelines, whether the referral resulted in a visit to the genetics department for evaluation, and clinical characteristics of patients receiving genetic testing. Results Most referrals (n = 514, 63%) contained sufficient information to assess the appropriateness of referral; of those, 92% met practice guidelines for genetic testing. Half of referred patients (50%) were not offered genetic evaluation; only 31% received genetic testing. We identified several barriers to receiving genetic evaluation and testing, the biggest barrier being completion of a family history form sent to patients following the referral. Those with a referral consistent with testing guidelines, were more likely to receive genetic testing than those without (39% vs. 29%, respectively; p = 0.0058). Traditionally underserved patients were underrepresented in those receiving genetic evaluation and testing relative to the overall adult KPNW population. Conclusions Process improvements are needed to increase access to genetic services to diagnose hereditary cancer syndromes prior to development of cancer.
Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased individuals, post-mortem genetic testing of pathology specimens allows surviving family members to receive important genetic risk information. The Genetic Risk Assessment in Ovarian Cancer (GRACE) study aims to address this significant healthcare gap using a “traceback testing” approach to identify individuals with a prior diagnosis of ovarian cancer and offer genetic risk information to them and their family members. This study will assess the potential ethical and privacy concerns related to an ovarian cancer traceback testing approach in the context of patients who are deceased, followed by implementation and evaluation of the feasibility of an ovarian cancer traceback testing approach using tumor registries and archived pathology tissue. Descriptive and statistical analyses will assess health system and patient characteristics associated with the availability of pathology tissue and compare the ability to contact and uptake of genetic testing between patients who are living and deceased. The results of this study will inform the implementation of future traceback programs.
Understanding the motivations and concerns of patients from diverse populations regarding participation in implementation research provides the needed evidence about how to design and conduct studies for facilitating access to genetics services. Within a hereditary cancer screening study assessing a multifaceted intervention, we examined primary care patients' motivations and concerns about participation. Methods: We surveyed and interviewed study participants after they enrolled, surveyed those who did not complete enrollment, and used descriptive qualitative and quantitative methods to identify motivations and concerns regarding participation. Results: Survey respondents' most common motivations included a desire to learn about their future risk (81%), receiving information that may help family (58%), and a desire to advance research (34%). Interviews revealed 3 additional important factors: affordability of testing, convenience of participation, and clinical relationships supporting research decision-making. Survey data of those who declined enrollment showed that the reasons for declining included concerns about privacy (38%), burdens of the research (19%), and their fear of not being able to cope with the genetic information (19%). Conclusion: Understanding the facilitating factors and concerns that contribute to decisions about research may reveal ways to improve equity in access to care and research that could lead to greater uptake of genomic medicine across diverse primary care patient populations.
Desde la disciplina del diseño, resulta importante reconocer una serie de necesidades en torno a los aspectos metodológicos que están relacionados con una práctica laboral que, por años, ha correspondido a un ejercicio poco reflexivo sobre la aplicación metodológica en el quehacer conceptual y de desarrollo de proyectos. El campo académico y de investigación en el área ha comenzado a ocuparse de difundir y divulgar los procesos que le han llevado a una práctica con resultados favorables. Lo anterior con la intención de generar conocimiento sobre la disciplina, pero, sobre todo, proponer marcos metodológicos para el ejercicio de la profesión. En el contexto descrito, el objetivo de este artículo consiste en reconocer la importancia de la investigación de orden cualitativo en la profesión del diseño, al exponer los marcos referenciales interpretativos del interaccionismo, la hermenéutica y la etnografía como coadyuvantes para la praxis profesional.Como discusión, se presenta la investigación cualitativa como paradigma que busca comprender las interacciones y los significados subjetivos en los grupos cuando se acercan a los textos del diseño en contextos que se establecen como marcos referenciales interpretativos. Se reconoce al objeto o producto del diseño como un texto —con capacidad discursiva—, por lo que su discurso estructura una realidad social y cultural. El texto diseñístico se puede definir como una entidad con un discurso propio, como una obra con un estilo, un género y con una composición. La investigación cualitativa en el área del diseño se enmarca en un ejercicio de orden incluyente, reflexivo, holístico y de apertura a nuevos conocimientos, además de presentarse al marco de referencia del interaccionismo simbólico —como una posibilidad para entender cómo se construye la interpretación en los textos y, por tanto, cómo se puede orientar la significación de los mismos en un contexto de colectividad—. Se reconoce la hermenéutica como herramienta para la interpretación y se presenta la hermenéutica analógica como campo de acción para el ejercicio del diseño. Se exhibe la etnografía como estrategia para acercarse a los grupos o comunidades con rigurosidad metodológica. Desde la perspectiva descrita en los párrafos anteriores, el texto y su contexto se convierten en unidades de análisis para la interpretación del discurso del diseño, en el que los marcos referenciales interpretativos son los espacios para la apropiación, interpretación y significación de los objetos creados
Este artículo analiza la participación del diseño en las acciones de salvaguardia del Patrimonio Cultural Inmaterial (PCI), en el ámbito de las técnicas artesanales tradicionales. Primero hablaremos sobre el Diseño, su conceptualización, su práctica y relación con las artesanías. En seguida se conceptualizará el PCI, sus ámbitos y características, así como la necesidad de salvaguardia, se pondrá especial énfasis al ámbito de la práctica artesanal, a partir de este observar su relación con los otros, como el de "usos sociales, rituales y actos festivos”. De esta manera se enmarcará la labor que en el ámbito de las técnicas tradicionales artesanales y práctica artesanal se puede y se ha llevado a cabo por parte del Diseño. Este trabajo también hace un recuento de las investigaciones que el Cuerpo Académico de Diseño y Desarrollo Social ha llevado a cabo en materia de salvaguardia del PCI.
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