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Genetic testing for hereditary cancer syndromes can provide lifesaving information allowing for individualized cancer screening, prevention, and treatment. However, the determinants, both barriers and motivators, of genetic testing intention are not well described. A survey of barriers and motivators to genetic testing was emailed to adult patients eligible for genetic testing based on cancer diagnosis who previously have not had genetic testing (n = 201). Associations between barriers/motivators with testing intention and confidence were examined first by correlation followed by multivariable linear regression model holding constant potential covariates. Seven barrier items from two domains (logistics and genetic testing knowledge) were found to significantly negatively correlate with genetic testing intention. Unexpectedly, three barrier items had significant positive correlation with genetic testing intention; these were related to family worry (passing a condition on to future generations) and testing knowledge (needing more information on the genetic testing process and what it has to offer). Ten barrier items had significant negative correlation with confidence to get a genetic test and encompassed four domains: stigma, insurance/genetic discrimination, knowledge, and cost. All motivator items were associated with intention to get a genetic test, while none were associated with confidence. Multivariable analysis yielded six total barriers (five from the knowledge domain, one from cost domain) and two motivators (relieved to know and treatment impact) that were significantly associated with genetic testing intention or confidence when controlling for demographic characteristics. These findings indicate the need for tailored interventions to amplify motivating factors and counter-message barriers to enhance patient motivation and confidence to undergo testing.
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Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and provided a blood sample, here we find that very early treatment engagement (i.e., <24 months) leads to greater gains while controlling for time in treatment. Pre-treatment clinical behavioral measures predict 21% of the variance in the rate of skill growth during early intervention. Pre-treatment blood leukocyte gene expression patterns also predict the rate of skill growth, accounting for 13% of the variance in treatment slopes. Results indicated that 295 genes can be prioritized as driving this effect. These treatment-relevant genes highly interact at the protein level, are enriched for differentially histone acetylated genes in autism postmortem cortical tissue, and are normatively highly expressed in a variety of subcortical and cortical areas important for social communication and language development. This work suggests that pre-treatment biological and clinical behavioral characteristics are important for predicting developmental change in the context of early intervention and that individualized pre-treatment biology related to histone acetylation may be key.
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Trastorno del Espectro Autista , Trastorno Autístico , Trastorno Autístico/genética , Comunicación , Intervención Educativa Precoz/métodos , Expresión Génica , Humanos , Resultado del TratamientoRESUMEN
OBJECTIVES: To examine the impact of a new approach, Get SET Early, on the rates of early autism spectrum disorder (ASD) detection and factors that influence the screen-evaluate-treat chain. STUDY DESIGN: After attending Get SET Early training, 203 pediatricians administered 57 603 total screens using the Communication and Symbolic Behavior Scales Infant-Toddler Checklist at 12-, 18-, and 24-month well-baby examinations, and parents designated presence or absence of concern. For screen-positive toddlers, pediatricians specified if the child was being referred for evaluation, and if not, why not. RESULTS: Collapsed across ages, toddlers were evaluated and referred for treatment at a median age of 19 months, and those screened at 12 months (59.4% of sample) by 15 months. Pediatricians referred one-third of screen-positive toddlers for evaluation, citing lack of confidence in the accuracy of screen-positive results as the primary reason for nonreferral. If a parent expressed concerns, referral probability doubled, and the rate of an ASD diagnosis increased by 37%. Of 897 toddlers evaluated, almost one-half were diagnosed as ASD, translating into an ASD prevalence of 1%. CONCLUSIONS: The Get SET Early model was effective at detecting ASD and initiating very early treatment. Results also underscored the need for change in early identification approaches to formally operationalize and incorporate pediatrician judgment and level of parent concern into the process.
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Trastorno del Espectro Autista/diagnóstico , Factores de Edad , Trastorno del Espectro Autista/psicología , Trastorno del Espectro Autista/terapia , Lista de Verificación , Preescolar , Diagnóstico Precoz , Femenino , Humanos , Lactante , Masculino , Tamizaje Masivo , Padres/psicología , Valor Predictivo de las Pruebas , Psicometría , Derivación y ConsultaRESUMEN
BACKGROUND: A central component of the public health strategy to control the COVID-19 pandemic involves encouraging mask wearing and social distancing to protect individuals from acquiring and transmitting the virus. OBJECTIVE: This study aims to understand the psychological factors that drive adoption or rejection of these protective behaviors, which can inform public health interventions to control the pandemic. METHODS: We conducted an online survey of a representative sample of 1074 US adults and assessed three novel potential predictors of COVID-19 behaviors: trait reactance, COVID-19 conspiracy beliefs, and COVID-19 apocalypse beliefs. Key outcomes (dependent variables) included an index of COVID-19 protective behaviors, the number of trips taken from the home, and COVID-19 knowledge. RESULTS: In bivariate analyses, all three predictors were significantly correlated in the hypothesized direction with the three COVID-19 outcomes. Specifically, each predictor was negatively (P<.01) correlated with the COVID-19 protective behaviors index and COVID-19 knowledge score, and positively correlated with trips taken from home per week (more of which was considered higher risk). COVID-19 protective behaviors and COVID-19 knowledge were significantly lower in the top median compared to the bottom median for all three predictors. In general, these findings remained significant after adjusting for all novel predictors plus age, gender, income, education, race, political party, and religiosity. Self-identified Republicans (vs other political affiliations) reported the highest values for each of the novel predictors. CONCLUSIONS: This study can inform the development of health communication interventions to encourage the adoption of COVID-19 protective behaviors. Interestingly, we found that higher scores of all three novel predictors were associated with lower COVID-19 knowledge, suggesting that lack of an accurate understanding of the virus may be driving some of these attitudes; although, it is also possible that these attributes may interfere with one's willingness or ability to seek and absorb accurate health information. These individuals may be particularly immune to accepting new information and yielding their beliefs. Health communication professionals may apply lessons learned from countering similar beliefs around climate change and vaccine hesitancy. Messages designed for individuals prone to reactance may be more effective if they minimize controlling language and emphasize the individual's independence in adopting these behavioral recommendations. Messaging for those who possess conspiracy beliefs should similarly not assume that providing evidence contrary to these beliefs will alone alter behavior. Other communication techniques such as rolling with resistance, a strategy used in motivational interviewing, may be helpful. Messaging for those with apocalyptic beliefs may require using religious leaders as the message source and using scripture that would support the adoption of COVID-19 protection behaviors.
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COVID-19/psicología , Conductas Relacionadas con la Salud , Adolescente , Adulto , Anciano , COVID-19/epidemiología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pandemias , SARS-CoV-2/aislamiento & purificación , Encuestas y Cuestionarios , Estados Unidos/epidemiología , Adulto JovenRESUMEN
BACKGROUND: During a global pandemic, it is critical that the public is able to rapidly acquire new and accurate health information. The internet is a major source of health information. eHealth literacy is the ability of individuals to find, assess, and use health information available on the internet. OBJECTIVE: The goals of this study were to assess coronavirus-related eHealth literacy and examine the relationship between eHealth literacy and COVID-19-related knowledge, attitudes, and practices (KAPs). METHODS: We conducted a web-based survey of a representative sample of 1074 US adults. We adapted the 8-item eHealth Literacy Scale to develop the Coronavirus-Related eHealth Literacy Scale (CoV-eHEALS) to measure COVID-19-related knowledge, conspiracy beliefs, and adherence to protective behaviors (eg, wearing facial masks and social distancing). Our analyses identified sociodemographic associations with the participants' CoV-eHEALS scores and an association between the CoV-eHEALS measure and COVID-19 KAPs. RESULTS: The internal consistency of the adapted CoV-eHEALS measure was high (Cronbach α=.92). The mean score for the CoV-eHEALS was 29.0 (SD 6.1). A total of 29% (306/1074) of the survey participants were classified as having low coronavirus-related eHealth literacy (CoV-eHEALS score <26). Independent associations were found between CoV-eHEALS scores and ethnicity (standardized ß=-.083, P=.016 for Black participants) and education level (standardized ß=-.151, P=.001 for participants with high-school education or lower). Controlling for demographic characteristics, CoV-eHEALS scores demonstrated positive independent associations with knowledge (standardized ß=.168, P<.001) and adherence to protective behaviors (standardized ß=.241, P<.001) and a negative association with conspiracy beliefs (standardized ß=-.082, P=.009). CONCLUSIONS: This study provides an estimate of coronavirus-related eHealth literacy among US adults. Our findings suggest that a substantial proportion of US adults have low coronavirus-related eHealth literacy and are thus at a greater risk of lower and less-protective COVID-19 KAPs. These findings highlight the need to assess and address eHealth literacy as part of COVID-19 control efforts. Potential strategies include improving the quality of health information about COVID-19 available on the internet, assisting or simplifying web-based search for information about COVID-19, and training to improve general or coronavirus-specific search skills.
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COVID-19 , Conocimientos, Actitudes y Práctica en Salud , Alfabetización en Salud , SARS-CoV-2 , Telemedicina , Adolescente , Adulto , Anciano , Femenino , Humanos , Internet , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Estados Unidos , Adulto JovenRESUMEN
Course-based undergraduate research experiences (CUREs) are increasingly common approaches to provide students with authentic laboratory experiences. Typically, CUREs are semester-long, in-person experiences that can be financially and time prohibitive for some institutions, faculty, and students. Here, we developed a short-duration, fully-online CURE, the Spine Lab, to provide an opportunity for students to conduct original research. In this CURE, we focused on synaptic spines in the mammalian brain; synapses are the unit structure that functions in rapid information processing. The students worked together in pairs and as a class to analyze cortical neuron spine density and structural morphology changes between a mouse line with learning impairments (forebrain-specific ß-catenin knockouts [ß-cat cKOs]) and control (Ctl) littermates. The students showed their results in an online poster presentation. Their findings show that spine density is significantly reduced, while spine structural maturation is unaltered in the ß-cat cKO. Defining pathophysiological changes caused by CTNNB1/ß-catenin loss-of-function provides important insights relevant to human disorders caused by disruptive mutations in this gene. To assess the benefits of this CURE, students completed a pre- and post-test assessment including a content quiz, STEM identity survey, and a standardized CURE survey. Participation in the Spine Lab correlated with improved content and STEM identity scores, and decreased negative attitudes about science. Moreover, direct comparison to the CURE database reveals that the Spine Lab produces comparable benefits to traditional CUREs. This work as a whole suggests that short-duration, fully-online CUREs can provide benefit to students and could be an inclusive tool to improve student outcomes.
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Direct-acting antiviral inhibitors have revolutionized the treatment of hepatitis C virus (HCV) infected patients. Herein is described the discovery of velpatasvir (VEL, GS-5816), a potent pan-genotypic HCV NS5A inhibitor that is a component of the only approved pan-genotypic single-tablet regimens (STRs) for the cure of HCV infection. VEL combined with sofosbuvir (SOF) is Epclusa®, an STR with 98% cure-rates for genotype 1-6 HCV infected patients. Addition of the pan-genotypic HCV NS3/4A protease inhibitor voxilaprevir to SOF/VEL is the STR Vosevi®, which affords 97% cure-rates for genotype 1-6 HCV patients who have previously failed another treatment regimen.
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Antivirales/farmacología , Carbamatos/farmacología , Descubrimiento de Drogas , Hepacivirus/efectos de los fármacos , Compuestos Heterocíclicos de 4 o más Anillos/farmacología , Inhibidores de Proteasas/farmacología , Proteínas no Estructurales Virales/antagonistas & inhibidores , Antivirales/síntesis química , Antivirales/química , Carbamatos/síntesis química , Carbamatos/química , Relación Dosis-Respuesta a Droga , Combinación de Medicamentos , Genotipo , Hepacivirus/genética , Compuestos Heterocíclicos de 4 o más Anillos/síntesis química , Compuestos Heterocíclicos de 4 o más Anillos/química , Humanos , Compuestos Macrocíclicos/química , Pruebas de Sensibilidad Microbiana , Estructura Molecular , Inhibidores de Proteasas/síntesis química , Inhibidores de Proteasas/química , Sofosbuvir/química , Relación Estructura-Actividad , Sulfonamidas/química , Comprimidos/química , Comprimidos/farmacología , Proteínas no Estructurales Virales/genética , Proteínas no Estructurales Virales/metabolismoRESUMEN
Graft versus host disease (GvHD) is a serious and common complication of allogenic haematopoietic stem cell transplant. Corticosteroids are considered the standard care for initial treatment of GvHD but a significant proportion of patients will need long-term steroid treatment for control of GvHD. Extracorporeal photopheresis (ECP) is a cell-based immunomodulatory therapy that is an accepted second line treatment in patients with steroid refractory, dependent or intolerant GvHD and has shown efficacy in allowing steroid dose reduction and discontinuation in this cohort of patients. Adrenal cortical insufficiency is defined by the inability of the adrenal cortex to produce sufficient amounts of glucocorticoids and/or mineralocorticoids leading to a severe and potentially life-threatening condition. The most common cause of drug-induced adrenal insufficiency is the suppression of the hypothalamic-pituitary-adrenal axis by exogenous glucocorticoid doses ≥5 mg prednisolone equivalent for more than 4 weeks. The aim of the study was to ascertain the number of patients with GvHD receiving ECP that are affected by adrenocortical insufficiency.
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Insuficiencia Suprarrenal/epidemiología , Enfermedad Injerto contra Huésped/terapia , Fotoféresis , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing. Toddlers completed common standardized assessments and experimental eye-tracking and observational measures every 9-12 months until age 3. Longitudinal performance on standardized assessments and experimental tests from initial evaluations were compared. Delay in social communication skills was seen in both ASD groups at early-age initial assessment, including increased preference for nonsocial stimuli, increased stereotypic play, reduced exploration, and use of gestures. On standardized psychometric assessments, early-diagnosed toddlers showed more impairment initially while late-diagnosed toddlers showed a slowing in language acquisition. Similar social communication impairments were present at very early ages in both early-detected ASD and so-called late-onset ASD. Data indicate ASD is present whether detected or not by current methods, and development of more sensitive tools is needed.
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Trastorno del Espectro Autista/diagnóstico , Diagnóstico Precoz , Desarrollo del Lenguaje , Habilidades Sociales , Edad de Inicio , Trastorno del Espectro Autista/fisiopatología , Preescolar , Humanos , Lactante , Estudios Longitudinales , MasculinoRESUMEN
The rhs genes are a family of enigmatic composite genes, widespread among Gram-negative bacteria. In this study, we characterized rhsT, a Pseudomonas aeruginosa rhs gene that encodes a toxic protein. Expression of rhsT was induced upon contact with phagocytic cells. The RhsT protein was exposed on the bacterial surface and translocated into phagocytic cells; these cells subsequently underwent inflammasome-mediated death. Moreover, RhsT enhanced host secretion of the potent proinflammatory cytokines IL-1ß and IL-18 in an inflammasome-dependent manner. In a mouse model of acute pneumonia, infection with a P. aeruginosa strain lacking rhsT was associated with less IL-18 production, fewer recruited leukocytes, reduced pulmonary bacterial load, and enhanced animal survival. Thus, rhsT encodes a virulence determinant that activates the inflammasome.
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Toxinas Bacterianas/genética , Inflamasomas/metabolismo , Neumonía/inmunología , Pseudomonas aeruginosa/genética , Factores de Virulencia/genética , Animales , Línea Celular , Citometría de Flujo , Técnica del Anticuerpo Fluorescente Indirecta , Immunoblotting , Péptidos y Proteínas de Señalización Intercelular , Interleucina-1beta/metabolismo , Espectrometría de Masas , Ratones , Ratones Endogámicos BALB C , Fagocitos/metabolismo , Neumonía/microbiología , Reacción en Cadena en Tiempo Real de la Polimerasa , Espectrometría de Masas en Tándem , TransfecciónRESUMEN
Obesity, diabetes, and metabolic syndrome are growing worldwide health concerns, yet their causes are not fully understood. Research into the etiology of the obesity epidemic is highly influenced by our understanding of the evolutionary roots of metabolic control. For half a century, the thrifty gene hypothesis, which argues that obesity is an evolutionary adaptation for surviving periods of famine, has dominated the thinking on this topic. Obesity researchers are often not aware that there is, in fact, limited evidence to support the thrifty gene hypothesis and that alternative hypotheses have been suggested. This review presents evidence for and against the thrifty gene hypothesis and introduces readers to additional hypotheses for the evolutionary origins of the obesity epidemic. Because these alternate hypotheses imply significantly different strategies for research and clinical management of obesity, their consideration is critical to halting the spread of this epidemic.
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Evolución Biológica , Obesidad/genética , Adaptación Fisiológica , Animales , Conducta , Peso Corporal , Humanos , Obesidad/epidemiologíaRESUMEN
Over the last several years, nationally disseminated course-based undergraduate research experiences (CUREs) have emerged as an alternative to developing a novel CURE from scratch, but objective assessment of these multi-institution (network) CUREs across institutions is challenging due to differences in student populations, instructors, and fidelity of implementation. The time, money, and skills required to develop and validate a CURE-specific assessment instrument can be prohibitive. Here, we describe a co-design process for assessing a network CURE [the Prevalence of Antibiotic Resistance in the Environment (PARE)] that did not require support through external funding, was a relatively low time commitment for participating instructors, and resulted in a validated instrument that is usable across diverse PARE network institution types and implementation styles. Data collection efforts have involved over two dozen unique institutions, 42 course offerings, and over 1,300 pre-/post-matched assessment record data points. We demonstrated significant student learning gains but with small effect size in both content and science process skills after participation in the two laboratory sessions associated with the core PARE module. These results show promise for the efficacy of short-duration CUREs, an educational research area ripe for further investigation, and may support efforts to lower barriers for instructor adoption by leveraging a CURE network for developing and validating assessment tools.
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Course-based undergraduate research experiences (CUREs) are an effective method of engaging large numbers of students in authentic research but are associated with barriers to adoption. Short CURE modules may serve as a low-barrier entryway, but their effectiveness in promoting expansion has not been studied. The Prevalence of Antibiotic Resistance in the Environment (PARE) project is a modular CURE designed to be a low-barrier gateway into CURE use. In a series of interviews, we track and characterize use of PARE in 19 PARE-interested instructors throughout the Innovation-Decision Process described by Rogers' Diffusion of Innovations theory. The majority (16/19) implement PARE at least once, and a majority of these implementers (11/16) expanded use by the final interview. Three of four cases of discontinuance were due to a disruption such as moving institutions or a change in course assignment and occurred for community college faculty. Expanders expressed fewer personal challenges than nonexpanders. Overall analysis shows that perception of barriers is nuanced and impacted by the innovation itself, the institutional context, and one's own experiences. These results suggest that a short duration, low barrier CURE can serve as a catalyst for implementation of a longer duration CURE.
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Estudiantes , Humanos , Universidades , Docentes , Estudios Longitudinales , Curriculum , Investigación , Farmacorresistencia MicrobianaRESUMEN
BACKGROUND: Effective COVID-19 vaccines have been available since early 2021 yet many Americans refuse or delayed uptake. As of mid-2022, still around 30% of US adults remain unvaccinated against COVID-19. The majority (81%) of these unvaccinated adults say they will "definitely not" be getting the COVID-19 vaccine. Understanding the determinants of COVID-19 vaccine uptake is critical to reducing death and illness from the virus, as well as to inform future vaccine efforts, such as the more recent bivalent (omicron) booster. OBJECTIVE: This study aimed to expand our understanding of psychosocial determinants of COVID-19 vaccine uptake. We focus on both COVID-19-specific factors, such as COVID-19 conspiracy beliefs, as well as more global personality attributes such as dogmatism, reactance, gender roles, political beliefs, and religiosity. METHODS: We conducted a web-based survey in mid-2021 of a representative sample of 1376 adults measuring both COVID-19-specific beliefs and attitudes, as well as global personality attributes. COVID-19 vaccination status is reported at 3 levels: vaccinated; unvaccinated-may-get-it; unvaccinated-hard-no. RESULTS: Our analyses focused on the correlation of COVID-19 vaccination status with 10 psychosocial attributes: COVID-19-specific conspiracy theory beliefs; COVID-19 vaccine misinformation; COVID-19-related Rapture beliefs; general antivaccination beliefs; trait reactance; trait dogmatism; belief in 2020 election fraud; belief in a QAnon conspiracy; health care system distrust; and identification with traditional gender roles. We used a multivariate analysis of covariance to examine mean differences across vaccine status groups for each of the correlates while holding constant the effects of age, gender, race, income, education, political party, and Evangelicalism. Across the 10 psychosocial correlates, several different response scales were used. To allow for comparison of effects across correlates, measures of effect size were computed by converting correlates to z scores and then examining adjusted mean differences in z scores between the groups. We found that all 10 psychosocial variables were significantly associated with vaccination status. After general antivaccination beliefs, COVID-19 misinformation beliefs and COVID-19 conspiracy beliefs had the largest effect on vaccine uptake. CONCLUSIONS: The association of these psychosocial factors with COVID-19 vaccine hesitancy may help explain why vaccine uptake has not shifted much among the unvaccinated-hard-no group since vaccines became available. These findings deepen our understanding of those who remain resistant to getting vaccinated and can guide more effective tailored communications to reach them. Health communication professionals may apply lessons learned from countering related beliefs and personality attributes around issues such as climate change and other forms of vaccine hesitancy. For example, using motivational interviewing strategies that are equipped to handle resistance and provide correct information in a delicate manner that avoids reactance.
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LAY ABSTRACT: Delays in autism spectrum disorder identification and access to care could impact developmental outcomes. Although trends are encouraging, children from historically underrepresented minority backgrounds are often identified at later ages and have reduced engagement in services. It is unclear if disparities exist all along the screen-evaluation-treatment chain, or if early detection programs such as Get SET Early that standardize, these steps are effective at ameliorating disparities. As part of the Get SET Early model, primary care providers administered a parent-report screen at well-baby examinations, and parents designated race, ethnicity, and developmental concerns. Toddlers who scored in the range of concern, or whose primary care provider had concerns, were referred for an evaluation. Rates of screening and evaluation engagement within ethnic/racial groups were compared to US Census data. Age at screen, evaluation, and treatment engagement and quantity was compared across groups. Statistical models examined whether key factors such as parent concern were associated with ethnicity or race. No differences were found in the mean age at the first screen, evaluation, or initiation or quantity of behavioral therapy between participants. However, children from historically underrepresented minority backgrounds were more likely to fall into the range of concern on the parent-report screen, their parents expressed developmental concerns more often, and pediatricians were more likely to refer for an evaluation than their White/Not Hispanic counterparts. Overall results suggest that models that support transparent tracking of steps in the screen-evaluation-treatment chain and service referral pipelines may be an effective strategy for ensuring equitable access to care for all children.
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Trastorno del Espectro Autista , Lactante , Humanos , Preescolar , Trastorno del Espectro Autista/diagnóstico , Etnicidad , Grupos Minoritarios , Pediatras , Accesibilidad a los Servicios de SaludRESUMEN
Anti-immigrant rhetoric and immigration policy enforcement in the United States over the last 2 decades has increased attention to fear of deportation as a determinant of poor health. We describe its association with mental health outcomes among Middle East and North African (MENA) residents of Michigan. Using a convenience sample of MENA residents in Michigan (n = 397), we conducted bivariate and multiple variable regression to describe the prevalence of deportation worry and examine the relationship between deportation worry and depressive symptoms (PHQ-4 scores). We found that 33% of our sample worried a loved one will be deported. Deportation worry was associated with worse mental health (p < 0.01). Immigration policies are health policies and deportation worry impacts mental and behavioral health.
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Deportación , Salud Mental , Pueblos de Medio Oriente , Pueblo Norteafricano , Humanos , Miedo/psicología , Política de Salud , Michigan/epidemiología , Pueblo Norteafricano/psicología , Estados Unidos , Pueblos de Medio Oriente/psicologíaRESUMEN
BACKGROUND: Only a small proportion of patients who qualify for clinical genetic testing for cancer susceptibility get testing. Many patient-level barriers contribute to low uptake. In this study, we examined self-reported patient barriers and motivators for cancer genetic testing. METHODS: A survey comprised of both new and existing measures related to barriers and motivators to genetic testing was emailed to patients with a diagnosis of cancer at a large academic medical center. Patients who self-reported receiving a genetic test were included in these analyses (n = 376). Responses about emotions following testing as well as barriers and motivators prior to getting testing were examined. Group differences in barriers and motivators by patient demographic characteristics were examined. RESULTS: Being assigned female at birth was associated with increased emotional, insurance, and family concerns as well as increased health benefits compared to patients assigned male at birth. Younger respondents had significantly higher emotional and family concerns compared to older respondents. Recently diagnosed respondents expressed fewer concerns about insurance implications and emotional concerns. Those with a BRCA-related cancer had higher scores on social and interpersonal concerns scale than those with other cancers. Participants with higher depression scores indicated increased emotional, social and interpersonal, and family concerns. CONCLUSIONS: Self-reported depression emerged as the most consistent factor influencing report of barriers to genetic testing. By incorporating mental health resources into clinical practice, oncologists may better identify those patients who might need more assistance following through with a referral for genetic testing and the response afterwards.
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Pruebas Genéticas , Neoplasias , Recién Nacido , Humanos , Masculino , Femenino , Salud Mental , Neoplasias/diagnóstico , Neoplasias/epidemiología , Neoplasias/genéticaRESUMEN
BACKGROUND: Although most cancers are sporadic, germline genetic variants are implicated in 5-10% of cancer cases. Clinical genetic testing identifies pathogenic germline genetic variants for hereditary cancers. The Michigan Genetic Hereditary Testing (MiGHT) study is a three-arm randomized clinical trial that aims to test the efficacy of two patient-level behavioral interventions on uptake of cancer genetic testing. METHODS: The two interventions being tested are (1) a virtual genetics navigator and (2) motivational interviewing by genetic health coaches. Eligible participants are adults with a diagnosis of breast, prostate, endometrial, ovarian, colorectal, or pancreatic cancer who meet the National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Participants are recruited through community oncology practices affiliated with the Michigan Oncology Quality Consortium (MOQC) and have used the Family Health History Tool (FHHT) to determine testing eligibility. The recruitment goal is 759 participants, who will be randomized to usual care or to either the virtual genetics navigator or the motivational interviewing intervention arms. The primary outcome will be the proportion of individuals who complete germline genetic testing within 6 months. DISCUSSION: This study addresses patient-level factors which are associated with the uptake of genetic testing. The study will test two different intervention approaches, both of which can help address the shortage of genetic counselors and improve access to care. TRIAL REGISTRATION: This study has been approved by the Institutional Review Board of the University of Michigan Medical School (HUM00192898) and registered in ClinicalTrials.gov (NCT05162846).
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Entrevista Motivacional , Neoplasias , Masculino , Adulto , Humanos , Michigan , Pruebas Genéticas , Oncología Médica , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
OBJECTIVE: The objective of this study was to implement a validated, university-based early detection program, the Get SET Early model, in a community-based setting. Get SET was developed to improve Screening, Evaluation, and Treatment referral practices. Specifically, its purpose was to lower the age of diagnosis and enable toddlers with autism spectrum disorder (ASD) to begin treatment by 36 months. METHODS: One hundred nine pediatric health care providers were recruited to administer the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist at 12-month, 18-month, and 24-month well-baby visits and referred toddlers whose scores indicated the need for a developmental evaluation. Licensed psychologists were trained to provide diagnostic evaluations to toddlers as young as 12 months. Mean age of diagnosis was compared with current population rates. RESULTS: In 4 years, 45,504 screens were administered at well-baby visits, and 648 children were evaluated at least 1 time. The overall median age for ASD diagnosis was 22 months, which is significantly lower than the median age reported by the CDC (57 months). For children screened at 12 months, the age of first diagnosis was significantly lower at 15 months. Of the 350 children who completed at least 1 follow-up evaluation, 323 were diagnosed with ASD or another delay, and 239 (74%) were enrolled in a treatment program. CONCLUSION: Toddlers with ASD were diagnosed nearly 3 years earlier than the most recent CDC report, which allowed children to start a treatment program by 36 months. Overall, Get SET Early was an effective strategy for improving the current approach to screening, evaluation, and treatment. Efforts to demonstrate sustainability are underway.