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Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.

OBJECTIVE: To assess the effectiveness of a two tier neonatal screening strategy for cystic fibrosis, which combines estimation of immunoreactive trypsinogen followed by direct gene analysis in dried blood spot samples collected at age 5 days. DESIGN: Prospective study of two tier screening strategy. The first tier of testing immunoreactive trypsinogen concentration was measured in dried blood spot samples from neonates aged 4-5 days. In the second tier direct gene analysis to detect cystic fibrosis mutations deltaF508 and deltaI506 was performed in those blood spot samples which produced the highest 1% of immunoreactive trypsinogen values. Direct gene analysis was also performed on blood spot samples from infants with suspected or confirmed meconium ileus, regardless of the immunoreactive trypsinogen value. SETTING: The South Australian Neonatal Screening Programme, operating from the department of chemical pathology at Adelaide Children's Hospital. Subjects--All 12,056 neonates born in South Australia between December 1989 and June 1990. No selection criteria were applied. INTERVENTIONS: All infants found to have two recognised cystic fibrosis mutations on direct gene analysis were referred directly for clinical management, and those with one recognised cystic fibrosis mutation were recalled for a sweat test; their families were given genetic counselling. MAIN OUTCOME MEASURES: Direct or exclusion of cystic fibrosis by sweat testing of neonates identified as being at high risk of cystic fibrosis on screening and of those at minimum risk but whose subsequent clinical history raised suspicion about the disease. RESULTS: Of the 12,056 infants screened, 11,907 (98.8%) were reported as "cystic fibrosis not indicated" on the basis of low immunoreactive trypsinogen values. Of the 148 (1.23%) infants with raised immunoreactive trypsinogen values and one (0.008%) with meconium ileus, 132 (1.09%) were reported as cystic fibrosis not indicated, four (0.033%) were identified as having cystic fibrosis, and 13 (0.108%) were recalled for sweat testing after direct gene analysis for the presence of the deltaF508 and deltaI506 cystic fibrosis mutations. No cases of affected infants are known to have been missed to date. CONCLUSION: The strategy of measurement of immunoreactive trypsinogen followed by direct gene analysis is a highly specific neonatal screen for cystic fibrosis, requiring only 2.8 families to be contacted for every case of cystic fibrosis diagnosed.

Cystic Fibrosis↗

Predictors of quitting among African American light smokers enrolled in a randomized, placebo-controlled trial.

OBJECTIVE: To examine the predictors of quitting among African American (AA) light smokers (<10 cigarettes per day) enrolled in a smoking cessation trial. METHODS: Baseline variables were analyzed as potential predictors from a 2 x 2 cessation trial in which participants were randomly assigned to 1 of 4 treatment groups: nicotine gum plus health education (HE) counseling, nicotine gum plus motivational interviewing (MI) counseling, placebo gum plus HE counseling, or placebo gum plus MI counseling. Chi-square tests, 2 sample t-tests, and multiple logistic regression analyses were used to identify predictors of cotinine (COT) verified abstinence at month 6. RESULTS: In the final regression model, HE rather than MI counseling (odds ratio [OR]=2.26%, 95% confidence interval [CI]=1.36 to 3.74), older age (OR=1.03%, 95% CI=1.01 to 1.06), and higher body mass index (OR=1.04%, 95% CI=1.01 to 1.07) significantly increased the likelihood of quitting, while female gender (OR=0.46%, 95% CI=0.28 to 0.76),</=$1,800/month income (OR=0.60%, 95% CI=0.37 to 0.97), higher baseline COT (OR=0.948%, 95% CI=0.946 to 0.950), and not completing all counseling sessions (OR=0.48%, 95% CI=0.27 to 0.84) reduced the odds of quitting. CONCLUSIONS: Individual characteristics may decrease the likelihood of quitting; however, the provision of directive, advice-oriented counseling focused on the addictive nature of nicotine, health consequences of smoking, benefits of quitting, and development of a concrete quit plan may be an important and effective facilitator of quitting among AA light smokers.

Black People↗

Genetic counselors and research: current practices and future directions.

Members of the genetic counseling community have debated the need for doctoral degree programs to further advance the profession. However, genetic counselors' interest in conducting independent research and attitudes toward obtaining a doctoral degree in genetic counseling has not been assessed in more than a decade. We designed a comprehensive web-based survey to characterize the current research values and practices of genetic counselors. Respondents were asked to self-report their current research involvement, their specific role in research activities, and their interest in performing research in the future. The study showed that a significant number of genetic counselors (84.5%) have conducted previous research, and 69.4% of respondents plan to perform research in the future. These results reflect the maturation of the genetic counseling field, in that a substantial number of genetic counselors consider active involvement in research to be a core role. The study also showed that 34.1% of respondents have high interest in a hypothetical PhD in Genetic Counseling, suggesting that the profession is primed for the development of doctoral degree training options.

Adult↗

[Genetic counseling. Past time, present time, future].

Recent literature concerning the effects of genetic counselling is reviewed. Although the vast increase in our knowledge about the human genome has opened new possibilities for genetic diagnosis, few scientific investigations consider the questions of the social and individual impact. In general, there is an international consensus that genetic counselling is and should be non-directive, and analyses of reproductive decisions following counselling conclude that it seems to reinforce decisions already made by the families, and that objective genetic risks only play a limited role for the decisions, but the availability of prenatal diagnosis may contribute to the families' desire to have more children.

Forecasting↗

Medication counseling center in a teaching hospital.

Patient compliance is often not achieved during drug therapy. Many reasons including lack of patients' understanding regarding medication and disease, poor socioeconomic pattern, unavailability of drugs are attributed to this situation. Providing counseling to patients can improve their understanding regarding medication, disease and life style modifications which in turn improves compliance. Medication counseling centers are one of the means to counsel the patients. The study was conducted to analyze the performance of such a center at Manipal Teaching Hospital, a teaching hospital in Western Nepal. Patients were counseled as per the Omnibus Budget Reconciliation Act-1990 guidelines and data were collected from the documentation form of the center and analyzed. Results indicated that 84.5% of the patients were directed to the medication counseling center by the pharmacists. Nearly one quarter of the population was either asthmatic or chronic obstructive pulmonary disease patients. Bronchodilators were found to be the major therapeutic category of drugs and were found in 26.7% of the patients. Among the various counseling aids, placebo inhalers were used in 45.1% of the patients. The counseling pharmacists dedicated an average time period of 6-10 minutes in about 42.1% of the patients. Language was found to be the major barrier while counseling 16.5% of the patients. The study concluded that the medication counseling center can play a definite role in enhancing patients' understanding about medications and disease pattern, which in turn may improve patient compliance.

Adolescent↗

Screening for disability: a eugenic pursuit?

This article is written in response to the idea that selective termination may be eugenic. It points out that a mixture of motives and goals may inform screening programmes and selective termination for fetal abnormality without the intention being "eugenic". The paper locates modern genetics within the tradition of humanist medicine by suggesting that parents who choose to terminate a pregnancy because of fetal abnormalities are not making moral judgments about those who are living with these abnormalities already. Rather they are making judgments about their own lives and the lives of their children in relation to this genetic disorder. It concludes by introducing several caveats about the counselling that parents receive after the results of the testing and suggests that counselling inevitably contains a directive element because of the nature of the information covered.

Abortion, Eugenic↗

Development and validation of a Breast Cancer Genetic Counseling Knowledge Questionnaire.

Women who undergo genetic counseling concerning their increased risk of developing breast cancer confront large quantities of complex information in a short period of time. Clinical reports have suggested that many women may not retain what they learned during counseling. A validated questionnaire to measure their knowledge, however, is lacking. In this study, we describe the development and validation of a questionnaire to assess knowledge of information typically included in genetic counseling for breast cancer. Items were empirically derived from detailed content analyses of actual genetic counseling sessions. The instrument's content validity was high, as evidenced by high levels of independent interrater agreement (0.93) on items. Subsequent data reduction and confirmatory factor analytic techniques yielded a highly reliable (alpha = 0.92) 27-item Breast Cancer Genetic Counseling Knowledge Questionnaire (BGKQ). Direct comparison of this questionnaire to a scale previously developed in the literature (BCHK; [Breast Cancer Res. Treat. 53 (1999) 69]) supported the utility of the new questionnaire for evaluation of knowledge after counseling. Compared to non-counseled groups (n = 45), women who had undergone genetic counseling (n = 28) scored significantly higher (P < 0.0001) on the BGKQ, but not on the other questionnaire, establishing the BGKQ's criterion validity. The BGKQ may, thus, provide a useful clinical and research tool for assessing knowledge of information provided during genetic counseling and exploring the potential impact of distress on knowledge, as well as the impact of knowledge on screening behaviors.

Adult↗

Marked improvement in recognition and completion of health care proxies. A randomized controlled trial of counseling by hospital patient representatives.

BACKGROUND: Advance directives provide a means for patients to retain influence on their medical care should decisional capacity be lost. Several studies have now demonstrated that advance directives that are completed in the ambulatory care setting are rarely available and recognized when patients are admitted to the acute care hospital. OBJECTIVE: To evaluate a generalizable model for improving recognition of previously completed advance directives and for promoting appointment of health care proxies in hospitalized patients. METHODS: Hospitalized elderly patients were randomly assigned to receive the intervention or usual care (n = 190). Intervention patients with capacity were counseled by hospital patient representatives about advance directives and encouraged to complete health care proxies. Patients with existing proxies had this information noted in their charts. For patients without capacity, counselors reviewed their charts for proxy documentation and if absent, contacted patients' next of kin and private physicians to determine proxy status. Usual care patients were not contacted by patient representatives. RESULTS: Forty-eight percent of intervention patients completed a new proxy or had a previously completed proxy identified compared with 6% of controls (P < .001). For patients with capacity, 22% of intervention patients had a previously appointed proxy agent identified compared with 6% of controls (P < .001). Thirty-six percent of intervention patients appointed a proxy decision maker compared with 0% of controls (P < .02). For patients without capacity, 31% of intervention patients had previously appointed proxies identified compared with 6% of controls (P < .001). CONCLUSIONS: Counseling by hospital patient representatives is an effective and generalizable means of improving recognition and execution of advance directives in the acute care hospital.

Advance Directives↗

Physical activity counseling in primary care and patient well-being: Do patients benefit?

BACKGROUND: Promoting physical activity is an important public health strategy for long-term reductions in incidence or severity of clinical disease. Benefits to health-related quality of life (HRQL) and subjective well-being may be as important and take less time to accrue. PURPOSE: We examined the HRQL benefits of a social-cognitive-theory-based intervention of the Activity Counseling Trial (ACT), both directly in terms of changes in physical fitness and indirectly from increased self-efficacy associated with the intervention. METHODS: In ACT, 395 female and 479 male inactive patients ages 35 to 75 years were randomized to one of: physician advice, advice plus behavioral counseling during primary care visits, or advice plus behavioral counseling that also included telephone contact and behavioral classes. Participants were assessed at baseline, 6 months, and 24 months. HRQL was assessed as perceived quality of life, perceived stress, depression, and general health. Satisfaction with function and appearance, self-efficacy, and social support were also assessed. RESULTS: At 24 months women who received counseling or assistance had significant reductions in daily stress and improvements in satisfaction with body function compared to those receiving advice only. Men had reductions in daily stress across all treatment arms. These results mirrored VO2max changes observed per group. Change in barriers self-efficacy was significantly associated with reductions in daily stress at 24 months. CONCLUSIONS: Patient benefit from ACT intervention was mediated by enhanced cardiorespiratory fitness and by barriers self-efficacy.

Adult↗

Which juvenile crime victims get mental health treatment?

OBJECTIVE: To explore factors that facilitate the receipt of mental health treatment among juvenile crime victims. METHOD: Telephone interviews were conducted with a national sample of 157 caretakers whose children had suffered a serious sexual or physical assault in the previous year. RESULTS: Twenty-two percent of caretakers had thought about getting professional counseling for their child victims, and 20% of the child victims actually received it. But half of the families who thought about it did not follow through on their consideration. Moreover, nearly half of those victimized children who actually received counseling did so without their families reporting that they had considered it in advance. The level of symptoms and parent-child relationship factors were related to considering counseling which was in turn strongly related to actually getting counseling. Other factors were independently related to receiving counseling, such as the victimization occurring at school and the victim being perceived as at fault to some degree. Advice to get counseling and medical insurance also played roles. CONCLUSIONS: These findings suggested two pathways to counseling. One occurred via direct parental concern, and was associated with such variables as parental perceptions that the child was depressed or withdrawn or that the parent-child relationship had been negatively affected. The other pathway occurred independent of parental concern, most likely via school interventions, because this counseling was in conjunction with school victimizations.

Adolescent↗

Prevention of HIV infection in drug abusers: a cost analysis.

BACKGROUND: Counseling and testing for HIV infection is performed at many sites, including drug treatment centers. The actual cost of providing HIV counseling and testing at drug treatment sites, based upon empirical data collection, has not been reported. The average lifetime medical cost for an HIV-infected individual is $56,000. This study provides both a systematic method for estimating HIV counseling and testing costs and actual cost results. These results can be compared with the medical costs associated with HIV infection. METHODS: At three publicly funded methadone treatment centers, we collected cost data on the provision of HIV counseling and testing. We obtained provider service times for HIV counseling and testing components, provider salaries and fringe rates, laboratory costs, and support costs at each center. RESULTS: The average cost of HIV counseling and testing is $215 per client entering HIV counseling and testing and $341 per client made aware of HIV serostatus. The total direct cost of providing HIV counseling and testing is $41 for an HIV-negative client who completes the process and $57 for an HIV-positive client; the support costs add an additional $175 per client. CONCLUSIONS: Existing methadone maintenance treatment clinics planning to add HIV counseling and testing can expect costs in a range of $189 to $242 per person entering HIV counseling and testing (1991 dollars). Using an average lifetime cost of HIV infection ($56,000) and the average cost per person entering HIV counseling and testing ($215), if more than 1 person in 260 changes his or her behavior to prevent one additional HIV infection, the ratio of medical care savings to costs of counseling and testing would be greater than 1.0, a cost-saving prevention strategy.

AIDS Serodiagnosis↗

Effect of therapeutic class on counseling in community pharmacies.

OBJECTIVE: To assess the effect and importance of the therapeutic class of a drug as a determinant for verbal counseling by community pharmacists. METHODS: Direct external observations (n = 1431) of pharmacist-customer interactions at the point of delivery of prescription medicines were conducted in 7 community pharmacies in Finland. Trained observers noted whether the pharmacist provided information on directions for use, mode of action, and adverse effects. To examine factors associated with counseling, a multiple logistic regression analysis was constructed, with the dependent variable being counseling of any of the 3 observed topics. In addition to therapeutic class, other independent variables were the pharmacy; pharmacist's age, gender, and degree; and the customer's age, gender, previous use of medicine, and question asking. RESULTS: Provision of counseling differed significantly according to therapeutic classes. Counseling on any of the 3 observed topics was most likely to be provided for customers with antibiotics (80%) and least likely for customers with gynecologic preparations (18%). Differences between therapeutic classes remained statistically significant when the effects of the other variables were controlled for. Other significant predictors for any verbal counseling were the pharmacy, customer's previous use of the medicine, and question asking. CONCLUSIONS: Therapeutic class is an important variable that should be included in further studies and considered when comparing studies on patient counseling in community pharmacies.

Adult↗

Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 controls using the polymerase chain reaction (PCR) and a refined Southern protocol. In the majority of the cases molecular analysis confirmed the clinical diagnosis. These included seven cases of congenital DM (CDM) with widely differing gene expansions and instabilities. In most DM families the expanded fragment became larger in successive generations, but we also identified four families with contractions and two families that showed stability of the enlarged fragment during transmission. In four clinically defined DM patients we were unable to detect enlarged CTG repeats. Sequencing of each exon of the DM gene in two of these patients failed to show any mutations. Our cases have important implications for genetic counselling of DM families, highlighting both the diagnostic value of direct genomic analysis and its limitations.

Adult↗

[Effectiveness of partial and complete instrumental masking in chronic tinnitus. Studies with reference to retraining therapy].

Jastreboff und Hazell [9] developed a neurophysiological approach to tinnitus perception, including the important role of the central nervous system in the maintenance and intrusiveness of tinnitus. They introduced tinnitus-retraining therapy, consisting of four different strategies: (1) directive and person-centered counseling; (2) hearing aids and/or noise generators and/or environmental sounds; (3) psychological therapy; (4) adjacent therapies. Tinnitus should not be masked as with a tinnitus-masker, but must be able to be heard in addition to the noise! A noise generator or hearing aid should be worn at least 6-8 h per day over a period of up to 18 months. In additions several clinical visits are required in order to reinforce the counseling. The actual results show complete tinnitus remission for about 20-30% and partial remission for 50-60% of the patients [6]. We report on a retrospective study in patients wearing hearing aids or tinnitus-maskers over a period of 3 years. We compared the results of patients using partial tinnitus masking to those using complete masking. The tinnitus-related and general psychological complaints were acquired by the 52-item tinnitus questionnaire developed by Hallam et al. [4] and modified by Goebel and Hiller [3]. To describe the dimensions of tinnitus-related distress the scales are labelled emotional distress, cognitive distress, emotional and cognitive distress, intrusiveness, auditory perceptual difficulties, sleep disturbance and somatic complaints. Positive changes for the global tinnitus questionnaire score of more than 10 points are significant in the dimensions of tinnitus-related distress and are described as partial tinnitus-reduction. The group with partial masking effects can be compared to those performing retraining therapy to day because directive and personal centered counseling were integrated for all patients. Patients reporting partial masking effects through their aids (hearing aid or noise generator) showed more effective treatment results (reduced or disappeared tinnitus) than those using complete masking effects (P < 0.05). The reported results are improved by current investigations in Germany showing about 20-30% tinnitus remission and 50-60% significant reduction after 1 year of treatment [1]. Further scientific investigations must be carried out to evaluate the appropriateness and effectiveness of the retraining therapy and with regard to unique quality standards.

Cognitive Behavioral Therapy↗

Tobacco cessation counseling: pharmacists' opinions and practices.

OBJECTIVE: As a key interface between patients and the health-care community, pharmacists are uniquely positioned to promote tobacco cessation. The objectives of this study were to: (a) characterize pharmacists' past training and current activities in provision of tobacco interventions, attitudes toward assisting patients with quitting, and interest in receiving specialized training for tobacco cessation counseling; and (b) identify predictors of pharmacists' counseling for tobacco cessation. METHODS: A 10-page survey was mailed to all licensed pharmacists in four California counties. RESULTS: Returned surveys (n = 1,168; 54.2% response) indicated that fewer than 8% of pharmacists have received formal training for tobacco cessation counseling, and current levels of counseling are low. Key predictors of cessation counseling include practice setting, pharmacists' race/ethnicity, perceived pros of counseling, and self-efficacy for counseling. Of 715 pharmacists who have direct patient contact, 93% indicated that receiving specialized tobacco cessation counseling training would increase their counseling quality, and 70% indicated that it would increase the number of patients counselled. Eighty-eight percent reported interest in receiving specialized training to obtain these skills. CONCLUSION: Although few pharmacists have received formal training in tobacco cessation and counseling activities currently are low, there is substantial professional interest in further developing this role. PRACTICE IMPLICATIONS: Provision of comprehensive training that focuses on promoting self-efficacy for counseling likely will increase pharmacists' tobacco cessation counseling activities.

Adult↗

Predictors of US medical students' prevention counseling practices.

OBJECTIVE: To understand predictors of medical students' prevention counseling practices. METHODS: We surveyed medical students (n=2316 individuals) in the Class of 2003 at freshman orientation, and again at entrance to wards and senior year in a nationally representative sample of 16 US medical schools (response rate=80.3%). MAIN OUTCOME MEASURES: Perceived relevance of prevention counseling and seniors' frequency of prevention counseling. RESULTS: Healthier personal practices (p<0.0001), intention to become a primary care practitioner (p=0.0007), and attending a medical school that encouraged healthy personal practices (p=0.002) significantly predicted the frequency with which seniors reported currently counseling patients about preventive interventions (using a validated measure). Perceived counseling relevance was also significantly predicted by intention to become a primary care practitioner (p<0.0001), attending a school that encouraged healthy personal practices (p=0.0007), being earlier in one's training (p<0.0001), more interested in prevention (p<0.0001), female (p<0.0001), non-White (p=0.007), and by having healthy personal practices (p=0.008). CONCLUSIONS: Several of the variables predicting physician counseling also predict US medical students' reporting counseling (especially personal health practices and specialty type). In addition, the avidity with which medical schools encourage students to be healthy significantly influences their reported patient counseling. These findings can give a fresh, evidence-based direction to help create physicians who counsel patients about prevention.

Adult↗

Bioethics for clinicians: 6. Advance care planning.

Advance rate planning is a process whereby a patient, in consultation with health care providers, family members and important others, makes decisions about his or her future health care. Grounded in the ethical principle of autonomy and the legal doctrine of consent, advance care planning helps to ensure that the norm of consent is respected should the patient become incapable of participating in treatment decisions. Physicians can play an important role by informing patients about advance care planning directing them to appropriate resources, counselling them as they engage in advance care planning and helping them to tailor advance directives to their prognosis.

Adult↗

Smoking cessation counseling with young patients: the practices of family physicians and pediatricians.

OBJECTIVE: To investigate family physicians' and pediatricians' practice of and perceived barriers to smoking cessation counseling among patients 18 years and younger. DESIGN: Cross-sectional mail survey conducted between November 1, 1997, and January 31, 1998. PARTICIPANTS: A stratified random sample selected from the 1997 American Medical Association Physician Masterfile of 1000 family physicians and pediatricians who practice in urban California, work at least 10% of the time in ambulatory care, and have at least 10% of patients 18 years and younger. MAIN OUTCOME MEASURES: Physicians' adherence to 5 components of the National Cancer Institute's smoking cessation counseling recommendations (anticipate, ask, advise, assist, and arrange) and their perceived barriers to smoking cessation counseling. RESULTS: A total of 429 physicians participated in the study. Physicians of both specialties were more likely to anticipate, ask, and advise patients about smoking than to assist with and arrange cessation activities. Family physicians were more likely than pediatricians to assist and arrange, including scheduling follow-up visits to discuss quitting (25.1% vs 11.7%; odds ratio [OR], 3.07; 95% confidence interval [CI], 1.22-7.73) and directing nursing staff to counsel patients (17.1% vs 10.9%; OR, 3.70; 95% CI, 1.30-10.60). The most common perceived barrier to counseling was the belief that children would provide inaccurate responses due to either the presence of parents (86.4%) or the fear that parents would be notified of their answers (74.0%). Pediatricians reported lack of counseling skills as a barrier to providing smoking interventions in greater proportion than did family physicians (24.9% vs 54.8%; OR, 0.29; 95% CI, 0.14-0.63; P<.001). CONCLUSION: Improvement in smoking cessation counseling skills and practices is needed among physicians treating children and adolescents.

Adolescent↗