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1.
This study explores neurologists’ and psychiatrists’ knowledge, attitudes, and practices concerning genetic tests. Psychiatrists (n?=?5,316) and neurologists (n?=?2,167) on the American Medical Association master list who had agreed to receive surveys were sent an email link to a survey about their attitudes and practices regarding genetic testing; 372 psychiatrists and 163 neurologists responded. A higher proportion of neurologists (74 %) than psychiatrists (14 %) who responded to the survey had ordered genetic testing in the past 6 months. Overall, most respondents thought that genetic tests should be performed more frequently, but almost half believed genetic tests could harm patients psychologically and considered legal protections inadequate. Almost half of neurologists (49 %) and over 75 % of psychiatrists did not have a genetics professional to whom to refer patients; those who had ordered genetic tests were more likely than those who did not do so to have access to a genetic counselor. Of respondents, 10 % had received patient requests not to document genetic information and 15 % had received inquiries about direct-to-consumer genetic testing. Neurologists reported themselves to be relatively more experienced and knowledgeable about genetics than psychiatrists. These data, the first to examine several important issues concerning knowledge, attitudes and behaviors of neurologists and psychiatrists regarding genetic tests, have important implications for future practice, research, and education.  相似文献   

2.
A major goal of predictive genetic testing is to alert people to their risk before illness onset; however, little is known about how risk perceptions change following genetic testing and whether information is recalled accurately over time. In the United States, a CDKN2A/p16 mutation confers 76 % lifetime risk of melanoma. Following genetic counseling and test reporting, subjective risk estimates and recall of counselor-provided risk estimates were assessed 5 times over the next 2 years among 60 adult members of 2 extended CDKN2A/p16 kindreds. No sustained changes from baseline in risk perceptions were reported. Unaffected carriers (n?=?15) consistently reported significantly lower subjective risk estimates (46 %) than they were actually given (76 %, p?<?0.001) or recalled having been given (60 %, p?<?0.001). Noncarriers’ (n?=?27) risk estimates decreased following results disclosure, but rebounded, with both subjective and recalled estimates subsequently exceeding what they were told by the counselor (both ps?<?0.001). Affected carriers’ (n?=?18) risk estimates for developing a new melanoma corresponded well to counselor-provided information (p?=?0.362). For all 3 patient groups, results were consistent across multiple risk measures and remained similar when demographic, phenotypic, and baseline behavioral contributors to melanoma risk were statistically controlled. These findings are consistent with other studies of risk perception, but additional studies of more diverse populations are needed to understand the reasons behind both the persistence of initial risk estimates and their divergence from information provided by the counselor during genetic counseling. Additionally, determining whether holding subjective risk perceptions that differ from counselor-provided information ultimately affects adherence to management recommendations will help guide the presentation of risk information in genetic counseling practice.  相似文献   

3.
4.
The objective of this study was to assess the genetics knowledge of patients with Parkinson’s disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson’s Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available. Patients reported a high interest to discuss the benefits, risks, and impacts of genetic testing for PD (mean sum score?=?26, range?=?9–35), and 43% patients expressed interest in meeting with a genetic counselor. Multivariate regression analysis showed that patients who had more positive attitudes toward genetic testing for PD were more interested in meeting with a genetic counselor (β?=?0.6, p?<?0.001). This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing.  相似文献   

5.
Physician burnout, as a prolonged response to chronic emotional and interpersonal stressors on the job, has been associated with suboptimal patient care and deterioration in the patient?Cprovider relationship. Although prior studies have identified a range of factors associated with decreased patient satisfaction, most have been conducted in tertiary care settings, with staff burnout examined at the hospital unit-level. To examine the impact of physician burnout on patient satisfaction from consultation in the primary care setting, a cross-sectional survey was conducted in Western Greece. Using a one-with-many design, 30 physicians and 300 of their patients, randomly selected, responded to the survey. Results showed that patient satisfaction correlated significantly with physician emotional exhaustion (r = ?.636, p < .01) and physician depersonalization (r = ?.541, p < .01). Mixed-effects multilevel models indicated that 34.4% of total variation in patients?? satisfaction occurred at the physician level, after adjustment for patients?? characteristics. Moreover, physician emotional exhaustion and depersonalization remained significant factors associated with patient satisfaction with consultation, after controlling for patient and physician characteristics. Patients of physicians with high-exhaustion and high-depersonalization had significantly lower satisfaction scores, compared with patients of physicians with low-exhaustion and low-depersonalization, respectively. Future studies need to explore the mechanisms by which physician burnout affects patient satisfaction.  相似文献   

6.
Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent <10 min for pre-amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p?<?0.0001), university hospitals (p?<?0.0001), and MD geneticists (p?=?0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.  相似文献   

7.
The aim of this study was to explore whether spirituality was associated with menopausal symptoms. Menopausal symptoms, spirituality, health and menopausal status, and socio-demographic variables were assessed in a community sample of 710 peri- and postmenopausal women. A structural model was explored using structural equation modeling. The results evidence spirituality as a significant contributor regarding the severity of most menopausal symptoms. Among others, spirituality had a significant weight in depressive mood (β = ?.414; p < .001), anxiety (β = ?.308; p < .001), cognitive impairment (β = ?.287; p < .001), aches/pain (β = ?.148; p < .001), vasomotor (β = ?.125; p = .005) and sexual symptoms (β = ?.211; p < .001). Some socio-demographic variables, as well as perceived health, also predicted the menopausal symptoms’ severity. Therefore, spirituality can have a positive impact on the menopausal symptoms’ reporting.  相似文献   

8.
People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using “MMRpro.” Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] (p?<?0.001); this was independent of age and sex (p?=?0.9). Among those reporting any medical advice and any screening colonoscopy (n?=?18), those with higher risk perception had less frequent colonoscopy (Pearson’s r?=?0.49 [0.02, 0.79]). People who decline genetic testing for CRC susceptibility mutations perceive themselves to be at substantially higher risk than they really are. Those with high perceived risk do not undertake screening colonoscopy more often than those who perceive themselves to be at average risk.  相似文献   

9.
The Children’s Attention-deficit Hyperactivity Disorder (ADHD) Telemental Health Treatment Study (CATTS) tested the hypotheses that children and caregivers who received guideline-based treatment delivered through a hybrid telehealth service delivery model would experience greater improvements in outcomes than children and caregivers receiving treatment via a comparison delivery model. Here, we present caregiver outcomes. 88 primary care providers (PCPs) in seven geographically underserved communities referred 223 children (ages 5.5 ? 12.9 years) to the randomized controlled trial. Over 22 weeks, children randomized to the CATTS service delivery model received six sessions of telepsychiatry and six sessions of caregiver behavior management training provided in person by community therapists who were trained and supervised remotely. Children randomized to the comparison Augmented Primary Care (APC) service model received management in primary care augmented by a single telepsychiatry consultation. Caregiver outcomes included changes in distress, as measured by the Patient Health Questionnaire (PHQ-9), Parenting Stress Index (PSI), Caregiver Strain Questionnaire (CSQ) and Family Empowerment Scale (FES). Caregivers completed five assessments. Multilevel mixed effects regression modeling tested for differences between the two service delivery models in caregiver outcomes from baseline to 25 weeks. Compared to caregivers of children in the APC model, caregivers of children in the CATTS service model showed statistically significantly greater improvements on the PHQ-9 (β?=?-1.41, 95 % CI?=?[?2.74, ?0.08], p?<?.05), PSI (β?=??4.59, 95 % CI?=?[?7.87, ? 1.31], p?<?.001), CSQ (β?=??5.41, 95 % CI?=?[? 8.58, ?2.24], p?<?.001) and FES (β?=?6.69, 95 % CI?=?[2.32, 11.06], p?<?.01). Improvement in child ADHD symptoms mediated improved caregiver scores on the PSI and CSQ. Improvement in child ODD behaviors mediated caregiver CSQ scores. The CATTS trial supports the effectiveness of a hybrid telehealth service delivery model for reducing distress in caregivers of children with ADHD and suggests a mechanism through which the service model affected caregiver distress.  相似文献   

10.
A growing literature suggests the clinical importance of acute stress disorder symptoms in youth following potentially traumatic events. A multisite sample of English and Spanish speaking children and adolescents (N = 479) between the ages of 8–17, along with their caregivers completed interviews and self-report questionnaires between 2 days and 1 month following the event. The results indicate that children with greater total acute stress symptoms reported greater depressive (r = .41, p < .01) and anxiety symptoms (r = .53, p < .01). Examining specific acute stress subscales, reexperiencing was correlated with anxiety (r = .47, p < .01) and arousal was correlated with depression (r = .50, p < .01) and anxiety (r = .55, p < .01). Age was inversely associated with total acute stress symptoms (r = ?.24, p < .01), reexperiencing (r = ?.17, p < .01), avoidance (r = ?.27, p < .01), and arousal (r = ?.19, p < .01) and gender was related to total anxiety symptoms (Spearman’s ρ = .17, p < .01). The current study supports the importance of screening acute stress symptoms and other mental health outcomes following a potentially traumatic event in children and adolescents. Early screening may enable clinicians to identify and acutely intervene to support children’s psychological and physical recovery.  相似文献   

11.
Advances in genetics are changing cancer care and requiring institutions to maximize the unique skills of genetics professionals. The identification of genetic syndromes is vital for prevention and management of families with high cancer risks. Despite this, high risk individuals who qualify are often not referred. Genetic counselors could review oncology charts to improve identification. A genetics assessment tool developed by NCI Community Cancer Centers Program was used to perform self-assessment of the genetics program. A weekly report of all new oncology patients was provided to a genetic counselor for chart review. In 2010, 58 % of all eligible patients (n?=?152) were offered a genetics evaluation. In 2011 this improved to 70 % (n?=?167), which was a statistically significant difference, X 2(1)?=?5.13, p?=?0.02. By cancer site, ovarian cancer referrals also showed statistically significant improvement, X 2(1)?=?6.36, p?=?0.01. Breast and colon referrals were improved but not significant. Over 10 months, 129 patients were identified through the chart review program. Three were confirmed to have a genetic mutation for a hereditary cancer syndrome. An average week included review of 73 charts for 10 medical oncologists, 4 radiation oncologists, and 4 pediatric oncologists which generated 60–80 min of work for the genetic counselor. This program improved patient identification and quality, and allowed physicians to become more aware of opportunities for genetic counseling and more patients to receive genetic counseling and testing.  相似文献   

12.
Increasing use of predictive genetic testing to gauge hereditary cancer risk has been paralleled by rising cost-sharing practices. Little is known about how demographic and psychosocial factors may influence individuals’ willingness-to-pay for genetic testing. The Gastrointestinal Tumor Risk Assessment Program Registry includes individuals presenting for genetic risk assessment based on personal/family cancer history. Participants complete a baseline survey assessing cancer history and psychosocial items. Willingness-to-pay items include intention for: genetic testing only if paid by insurance; testing with self-pay; and amount willing-to-pay ($25–$2,000). Multivariable models examined predictors of willingness-to-pay out-of-pocket (versus only if paid by insurance) and willingness-to-pay a smaller versus larger sum (≤$200 vs. ≥$500). All statistical tests are two-sided (α?=?0.05). Of 385 evaluable participants, a minority (42 %) had a personal cancer history, while 56 % had ≥1 first-degree relative with colorectal cancer. Overall, 21.3 % were willing to have testing only if paid by insurance, and 78.7 % were willing-to-pay. Predictors of willingness-to-pay were: 1) concern for positive result; 2) confidence to control cancer risk; 3) fewer perceived barriers to colorectal cancer screening; 4) benefit of testing to guide screening (all p?p?相似文献   

13.
CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial assessment, report templates, a result tracking system, and a patient follow up system. The performance of CGC was assessed in several ways: pre-appointment completion data analyzed for demographic and health variables; a time study to assess overall time per case and to compare the data entry by the genetic counselor compared to the patient, and a measured quality assessment of the program via observation and interview of patients. Prior to their appointment, 52.3 % of 2,414 patients completed the online patient questionnaire section of CGC. There were significant differences in completion rates among racial and ethnic groups. County hospital patients were less likely to complete the questionnaire than insured patients (p?p?CGC. CGC reduces genetic counselor time by approximately 14–46 % compared to average time per case using traditional risk assessment and documentation methods previously reported. All surveyed users felt the questionnaire was easy to understand. CGC is an effective tool that streamlines workflow, and provides a standardized data collection tool that can be used to evaluate and improve the genetic counseling process.  相似文献   

14.
This study examined adaptation to work stress among public school teachers (n = 267). Regression analyses tested whether positive affect predicted successful and unsuccessful adaptation to stress (viz., resilience and burnout, respectively) after controlling for demographic characteristics and work stress. Positive affect was largely correlated with resilience (r = .65, p < .001) and burnout (r = ?.57, p < .001). The regression of resilience showed that positive affect had a direct effect (β = .66, p < .001) and the total model explained 44 % of the variance (R 2 Change = 37 %). In the regression of burnout, positive affect also had a direct effect (β = ?.41, p < .001) and the total model explained 52 % of the variance (R 2 Change = 14 %). Further analyses found no significant interaction between work stress and positive affect, but revealed that positive affect completely mediated the effect of work stress on resilience. Results provide support for the broaden-and-build theory of positive emotions, particularly the theory’s building and undoing effects.  相似文献   

15.
Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseling and testing to unselected EC and OC patients. Therefore, in 2007, EC and OC patients were invited for genetic counseling and testing. Patients were asked for their reasons to accept or decline. Nineteen out of fifty-two EC patients (36 %) and twenty-two out of thirty-five OC patients (63 %) accepted genetic counseling, mainly to receive risk assessment for themselves and relatives. Counseling was declined mainly because patients did not want more tests or had no relatives for whom it was relevant. Eighteen out of nineteen EC patients (95 %) and twenty out of twenty-two OC patients (91 %) underwent genetic testing. One EC patient carried an MSH6 mutation (mutation detection rate: 6 %). BRCA1/2 mutations were found in two out of twenty OC patients (10 %). Eleven patients (29 %) received surveillance recommendations for themselves and their relatives. Finally, family history recorded by the gynecologist was compared to that taken by the clinical geneticist. Gynecologists reported family history in ten out of forty-one participants (24 %). In conclusion, genetic counseling and testing are acceptable to patients with OC and/or EC. The 10 % BRCA1/2 mutation detection rate and underreporting of family history by gynecologists warrant referral for genetic counseling for all OC patients, followed by BRCA1/2 testing if indicated. We recommend that microsatellite instability and immunohistochemical analysis be performed in all EC patients, followed by genetic counseling if appropriate. These strategies will lead to better cancer prevention in gynecological cancer patients and their relatives.  相似文献   

16.
HLA molecular typing for celiac disease (CD) is a genetic test with a high negative predictive value. The aim of this study is to explore knowledge of and attitudes towards genetic testing (GT). A 25-item questionnaire was developed by a multidisciplinary team and distributed to members of CD support groups across the United States. Respondents (n?=?1835) were mainly female (88 %), married (76 %), and college-educated (55 %), with a median age range of 31–50 years. Those who were married (82 vs 75 %, p?=?0.002), had children (82 vs 74 %, p?<?0.001), and had pursued education beyond high school (81 vs 68 %, p?=?0.004) were more likely to be aware of the availability of GT. On multivariable analysis, adjusting for age, sex, education, marital status, region of residence, and having children, college-education (OR 2.05, 95 % CI: 1.33–3.16) and having children (OR 1.56, 95 % CI: 1.15–2.11) remained significant predictors of GT awareness. A majority of patients with a personal or family history of CD planned GT for their children, and the most common concerns regarding GT were cost and impact on health care and/or insurance. In conclusion, awareness of GT is high among CD support group members. Efforts should be made to increase knowledge of GT in those with a lower educational level, and healthcare professionals should attempt to address concerns regarding GT cost and the impact of results on health care and insurance status.  相似文献   

17.
The different motivations postulated by the Self-Determination Theory have proved to be meaningful to predict the level of engagement in a wide variety of life domains. The present research examines the relation between the different forms of self-determined motivation and behavioral automaticity of 12 behaviors associated with different life domains. Following 1743 measurements of self-determination (using a short version of the situational motivational scale, SIMS8), behavioral automaticity (using the self-reported behavioral automaticity index, SRBAI), and behavioral frequency (self-reported number of executions in a unit of time) for 12 various common behaviors collected on 315 young adults (Mage = 20.60?±?2.87 years) through an online survey, the results of crossed linear mixed models indicated that self-determined motivations are more associated with behavioral automaticity than non-self-determined motivations (intrinsic motivation: β?=?0.13, p?<?.001, identified extrinsic motivation: β?=?0.13, p?<?.001; external extrinsic motivation : β?=?0.08, p?<?.001; amotivation: β?=?0.02, p?=?.433). Furthermore, self-determination played a moderating role between the repetition of behaviors and behavioral automaticity (β?=?0.06, p?<?.002) suggesting that self-determination facilitated automatization, as high level of behavioral automaticity was achieved with less frequent behaviors when behaviors were performed for highly self-determined (β?=?0.41, p?<?.001) than weakly self-determined reasons (β?=?0.29, p?<?.001). The applications of these findings for learning and habit formation are discussed.  相似文献   

18.
Advanced prostate cancer (APC) is associated with disruptions that compromise health related quality of life (HRQOL). Treatment often includes androgendeprivation therapy (ADT), which results in a range of side effects (e.g., fatigue, urinary dysfunction) that further impact HRQOL. Despite these challenges, there are limited evaluations of the impact of stress and stress management skills on HRQOL among APC survivors on ADT. This study evaluated relationships among stress, stress management skills, and HRQOL, and it was hypothesized that better stress management skills would relate to greater physical and emotional well-being by mitigating perceived stress levels. Participants (N = 77) were 69.7 years old (SD = 9.8), 18.6 months post-treatment (SD = 17.5), and ethnically diverse (65 % Non-Hispanic White, 13 % Hispanic, 21 % African-American). Measures included the Measure of Current Status for stress management skills, the Perceived Stress Scale for perceived stress, and the Medical Outcomes Study—Short Form (MOS SF-36; physical functioning and emotional well-being subscales) for HRQOL. Direct effects and mediation models were evaluated to determine the relationships between perceived stress, stress management skills, and HRQOL domains, controlling for relevant covariates. Stress management skills and perceived stress were significantly associated with physical functioning (β = .24, p < .05 and β = ?.43, p < .01, respectively) and emotional well-being (β = .35, p < .01 and β = ?.64, p < .01, respectively). Regression analyses supported the hypothesis that reduced perceived stress mediated the relationship between stress management skills and both physical functioning and emotional well-being. These results demonstrate that one way stress management skills may impact HRQOL is by lessening ongoing perceptions of stress.  相似文献   

19.
Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p?<?0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy.  相似文献   

20.
The objective of this study was to identify variables that may influence the decision to terminate or continue a pregnancy affected by a chromosome abnormality. We performed a retrospective cohort analysis of 286 pregnancies diagnosed with a chromosome abnormality following genetic counseling and prenatal diagnosis. Data obtained included procedure type, chromosome results, ethnicity, maternal age, use of fertility treatments, and uptake of genetic counseling after results, among other factors. Wilcoxon rank sum test, Fisher’s exact test, and univariate and multivariate logistic regression models were used for data analysis. The overall termination rate in this study was 82.9 %. A lower likelihood to terminate was found in pregnancies with a diagnosis of a sex chromosome abnormality (OR 0.05, p?<?.0001), Filipina race (OR 0.10, p?=?.03), and uptake of second genetic counseling session (OR 0.05, p?<?.0001). Prior history of termination was associated with increased likelihood to terminate (OR 8.6, p?=?.02). Factors revealing no statistically significant association with termination included maternal age, gestational age, clinic site, fetal gender, ultrasound anomalies, reason for referral and who informed the patient. Our data affirm the complexity of the decision making process and reinforce that providers should refrain from making assumptions regarding a patient’s likelihood to terminate based on factors such as maternal age, gestational age, type of procedure, or ultrasound.  相似文献   

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