Teaching about cystic fibrosis carrier screening by using written and video information.

We performed two studies using only written and video materials to educate people about cystic fibrosis (CF) and carrier screening. Participants were randomized to receive written or video materials. All received a brief questionnaire. Subjects in group I (n = 238) were (1) individuals in steady relationships and their partners, (2) > or = 18 years old, and (3) not pregnant. Those who accepted free screening and were not demonstrable carriers were sent a letter explaining their results and another questionnaire. Subjects in group II (n = 108) were parents seeking well child care in a university clinic. The main outcome measures were ability to answer questions correctly about (1) health status of CF carriers and people with CF, (2) the possibility of false-negative results, and (3) for those who had screening, the implications of their own results. Written and video materials were equally effective in conveying information. Prior to screening, subjects answered an average of 86% of questions correctly. Subjects with less formal education answered fewer questions correctly; 60% of those with less than a high school education had adequate knowledge of the health consequences of having CF or being a carrier, compared with > or = 94% of college graduates. Performance improved after screening. Where neither partner was a demonstrable carrier, 88% knew their own and their partner's test results, and 90% indicated that their risk of having a child with CF was not zero. Written and video educational materials can be used without face-to-face counseling to inform most people about carrier screening and their test results. These materials may be less effective for those with lower educational backgrounds.     

Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization.

We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) or were approached in waiting rooms at the HMO sites and given the opportunity to have the test without making an additional visit (N = 608). Uptake was considerably higher when testing could be obtained without making an additional visit (23.5%) than when attendance at an educational session was required as a prerequisite for having the test (3.7%). Utilization was higher among respondents who were planning children. Caucasians, and those with higher educational attainment. Among respondents planning to have children, individuals with higher tolerance for test uncertainty, lower fear of stigma, and higher perceived risk of being a carrier were significantly more likely to have the test. Testing decisions were not associated with the perceived burden of a child with CF or with the likelihood of aborting for CF. Although utilization of CF carrier testing is relatively low among nonpregnant individuals, uptake is significantly higher when testing can be obtained with minimal effort. Factors associated with the decision to be tested had more to do with implications of being a carrier per se than with the concerns of having a child with CF.     

Analysis of questions asked by family physicians regarding patient care

Objectives To characterize the information needs of family physicians by collecting the questions they asked about patient care during consultations and to classify these in ways that would be useful to developers of knowledge bases. Design An observational study in which investigators visited physicians for two half-days and collected their questions. Taxonomies were developed to characterize the clinical topic and generic type of information sought for each question. Setting Eastern Iowa. Participants Random sample of 103 family physicians. Main outcome measures Number of questions posed, pursued, and answered; topic and generic type of information sought for each question; time spent pursuing answers; and information resources used. Results Participants asked a total of 1,101 questions. Questions about drug prescribing, obstetrics and gynecology, and adult infectious disease were most common, comprising 36% of the total. The taxonomy of generic questions included 69 categories; the three most common types, comprising 24% of all questions, were "What is the cause of symptom X?" "What is the dose of drug X?" and "How should I manage disease or finding X?" Answers to most questions (n = 702 [64%]) were not immediately pursued, but of those pursued, most (n = 318 [80%]) were answered. Physicians spent an average of less than 2 minutes pursuing an answer, and they used readily available print and human resources. Only two questions led to a formal literature search. Conclusions Family physicians in this study did not pursue answers to most of their questions. Questions about patient care can be organized into a limited number of generic types, which could help guide the efforts of knowledge-base developers.     

Carrier screening for cystic fibrosis among Maryland obstetricians before and after the 1997 NIH Consensus Conference

The 1997 National Institutes of Health (NIH) Consensus Conference on Cystic Fibrosis (CF) testing recommended that carrier screening be offered to all pregnant women and couples planning a pregnancy. We surveyed 492 Maryland Ob-Gyns before and after the consensus conference to: (1) assess whether obstetricians changed their practice regarding CF carrier testing, and (2) identify the factors associated with changing practice patterns, including awareness of the statement, and knowledge about CF. Fifty-six percent (275) responded to the first mail questionnaire and 107 obstetricians responded to both questionnaires. In 1998, only 18% of respondents to the second questionnaire were familiar with the NIH statement, but 43% reported discussing testing with patients with no family history, a significant increase from 1997, when only 20% reported discussing testing. Less than one-third correctly answered six multiple-choice knowledge questions about CF and carrier testing. In multivariate analysis, knowledge and familiarity with the NIH consensus statement were not associated with beginning to discuss CF carrier testing after the CF conference with their patients without a family history.     

Cystic fibrosis carrier population screening in the primary care setting.

To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of 124 prenatal care providers, only 37 elected to participate, but many of these offered screening only to pregnant women. The acceptance rate among pregnant women was approximately 57%. The most common reasons for accepting screening were to obtain reassurance (50.7%) and to avoid having a child with CF (27.8 %). The most common reasons for declining screening were not intending to terminate a pregnancy for CF (32.4%) and believing that the chance of having a CF child was very low (32.2%). Compared with decliners, acceptors were more likely to have no children, regarded having a child with CF as more serious, believed themselves more susceptible to having such a child, knew more about CF, would be more likely to terminate a pregnancy if the fetus were shown to have CF, and more strongly supported offering CF screening to women of reproductive age. Of 4,879 women on whom results were obtained, 124 were found to be carriers. Of these 124 carriers, the partners of 106 were tested. Of the five at-risk couples, four requested prenatal diagnosis and one requested neonatal diagnosis. No woman found to be a carrier whose partner tested negative requested prenatal diagnosis. Except for the imperfect knowledge of those testing negative, none of the adverse outcomes predicted for CF carrier testing in the general population were observed in this study.     

Reactions to children's faces: Resemblance affects males more than females

Since cuckoldry risk is asymmetrical, we hypothesized that parental investment would be more affected by paternal than maternal resemblance. To test this hypothesis, we asked subjects hypothetical questions about investing in children under conditions in which their faces or those of other people had been morphed with photographs of children. Males were more likely to choose a face they had been morphed with as the most attractive, the child they were most likely to adopt, the child they would like to spend the most time with, the child they would spend US$50 on, and the child they would least resent having to pay child support for. Reactions to children's faces by females were much less affected by resemblance.     

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.

We used signs and letters to offer free cystic fibrosis (CF) carrier screening to nonpregnant adults in stable relationships who visited numerous clinical and nonclinical sites in Nashville. A total of 179 individuals (<<1% of those eligible) elected to be tested. To understand this observation, we used questionnaires to assess individuals' attitudes about genetic testing in general and about CF carrier screening in particular (n=873). Participants expressed conflicting views about carrier screening. More than 90% of people thought that genetic testing should at least be available. Most respondents said that the views of their partners and physicians were important in their decision making, and most believed that these others favored genetic testing. Yet, more than two-thirds indicated that such factors as insurability, being "at risk," what they would need to learn, abortion, and religious beliefs were important in their decision making, opinions that mitigated against genetic testing. In particular, one-third feared that carriers would lose their health insurance, one-quarter said that they would have been more interested had they been able to provide DNA by buccal swab rather than by finger stick, and less than one-sixth believed that genetic testing was meddling in God's plan. In the face of both the low level of use of free CF carrier screening by nonpregnant couples when it was not offered in person by health-care professionals and the wide variety of concerns demonstrated, we believe that clinicians should not routinely offer carrier screening to nonpregnant individuals who do not have a family history of CF.     

Laboratory policies and practices for the genetic testing of children: a survey of the Helix network.

In order to discover whether laboratories have policies regarding the testing of unaffected children, we surveyed all laboratories registered with Helix, a national net-work of DNA diagnostic laboratories. Of 186 laboratories asked to respond anonymously to a four-page questionnaire, 156 (84%) replied. A screening question removed 51 laboratories that provided no clinical services. Of the remaining 105, 92% said that their requisition forms asked the person's age. Substantial minorities had policies for the testing of minors for late-onset disorders (46%), for carrier status for recessive disorders (33%), or for disorders for which the test offers no medical benefit within 3 years (33%). Most laboratories are responsive to parental requests. For 12 of 13 late-onset disorders, the majority of laboratories that offered testing had had requests to test children. The majority had tested healthy children, <12 years of age, for eight disorders. Approximately 22% had tested children, <12 years of age, for Huntington disease. Majorities had received requests to test healthy children for carrier status for 10 of 15 recessive or X-linked disorders and had tested children, <12 years of age, for 6 of these disorders, including cystic fibrosis, hemophilia A, fragile X syndrome, and Duchenne muscular dystrophy. Approximately 45% of the laboratories occasionally had provided tests directly to consumers. In view of the possibility that the harms of presymptomatic diagnoses of children sometimes may outweigh the benefits, our results suggest a need for consistent laboratory policies designed for the best interests of the child and the family.     

Reproductive attitudes of couples having a child with cystic fibrosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)

Cystic fibrosis (CF) has a high incidence (1/936 live births) and carrier rate (1/15 inhabitants) in Saguenay-Lac-Saint-Jean. One objective of a major enquiry among several subsets of individuals from this high-risk population for CF was to evaluate the reproductive behaviour of couples with a CF child attending the comprehensive CF clinic in Chicoutimi. The knowledge of the recurrence risk resulted in deciding against further progeny or in reducing the number of children. More reliable contraception methods after the birth of the CF child, but not prenatal diagnosis, were used. Although a minority of parents with a CF child would abort a CF foetus, they apparently started viewing pregnancy interruption for CF after prenatal diagnosis as an acceptable reproductive option.     

Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands

Knowledge of the opinions of physicians with regard to preconceptional cystic fibrosis (CF) carrier screening and the possible factors that are associated with their opinions is important for the implementation of such a screening program. Data were obtained from a study in which genetic knowledge, opinions with regard to genetic testing and related skills were investigated. A questionnaire, developed and used by American researchers, was adapted to the Dutch health care situation, and sent to randomly selected general practitioners (GPs) (n = 200), gynecologists (GYNs) (n = 300), and pediatricians (PEDs) (n = 265). In this part of the study, their opinions with regard to genetic preconceptional CF carrier screening in different situations were assessed. The response rate for the GPs, GYNs, and PEDs was 64%, 69%, and 72%, respectively. In total, 63% of the GPs, 69% of the GYNs and 72% of the PEDs supported preconceptional CF carrier testing if a couple requested a test. Sixteen percent, 19% and 25%, respectively, were in favor of actively offering a test with 95% test sensitivity to all couples who were planning a pregnancy. A positive opinion on preconceptional CF carrier screening was associated with the following variables: "considering the test sensitivity as less important" (GPs, GYNs), "high perceived risk of having a child with CF" (GYNs), "providing genetic counselling in their own practice" (PEDs) and "reassurance when both partners test negative" (PEDs). Physicians are sympathetic toward preconceptional CF carrier screening if the couples themselves request a test. Physicians had reservations about routinely offering a CF carrier test.     

Quantum Models for Psychological Measurements: An Unsolved Problem

There has been a strong recent interest in applying quantum theory (QT) outside physics, including in cognitive science. We analyze the applicability of QT to two basic properties in opinion polling. The first property (response replicability) is that, for a large class of questions, a response to a given question is expected to be repeated if the question is posed again, irrespective of whether another question is asked and answered in between. The second property (question order effect) is that the response probabilities frequently depend on the order in which the questions are asked. Whenever these two properties occur together, it poses a problem for QT. The conventional QT with Hermitian operators can handle response replicability, but only in the way incompatible with the question order effect. In the generalization of QT known as theory of positive-operator-valued measures (POVMs), in order to account for response replicability, the POVMs involved must be conventional operators. Although these problems are not unique to QT and also challenge conventional cognitive theories, they stand out as important unresolved problems for the application of QT to cognition. Either some new principles are needed to determine the bounds of applicability of QT to cognition, or quantum formalisms more general than POVMs are needed.     

SURVIVAL ANALYSIS TO ESTIMATE SENSORY SHELF LIFE USING ACCEPTABILITY SCORES

ABSTRACT

In the present study, survival analysis was applied on consumers' acceptability scores, focusing the shelf‐life risk on the consumers disliking the product. Shelf life was estimated as the time necessary to reach a fixed percentage of consumers disliking the product, that is, the percentage of consumers scoring the product's overall acceptability below 6 in a 9‐point hedonic scale. In the present work, this methodology was applied to estimate the sensory shelf life of whole pan bread and alfajores. Shelf lives estimated considering 50% of the consumers disliking the product were shorter than those estimated considering consumers' rejection to consume. These results suggest that a proportion of consumers might dislike the sample but still answer “yes” when asked if they would consume the product at their homes. This could be attributed to the fact that when consumers are asked whether they would consume the product, they might think about consuming it after being stored at their homes. In this situation, consumers might be more tolerant toward sensory defects because they do not want to discard the product.

PRACTICAL APPLICATIONS

Sensory shelf life can be estimated using survival analysis considering the percentage of consumers disliking the product. This methodology seems to be a conservative criterion in order to assure the product's quality throughout its storage.     

Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population

The aim of this study was to assess the attitudes and intentions of individuals planning a pregnancy with regard to preconceptional cystic fibrosis (CF) carrier screening and to determine factors associated with a positive and negative/neutral intention to have the test. A survey, based on a questionnaire, was conducted among a stratified random sample of 303 recently married couples (606 individuals). Of the eligible individuals, 70% (n = 380) participated. Of the respondents, 73% had a positive attitude toward a routine offer of preconceptional CF carrier screening, and 56% had the intention to participate in a screening program. A positive intention to have the test was associated with high perceived anticipation of regret, intended preconceptional behavior, high perceived pressure from experts, high perceived consequences of the test results, low perceived barriers, and low perceived negative consequences for family members. These results suggest that the offer of routine preconceptional CF carrier screening would lead to substantial acceptance among couples planning a pregnancy. Several variables related with intention were identified.     

Student retention of course content is improved by collaborative-group testing

We recently reported that collaborative testing (i.e., group test taking) increased student performance on quizzes. It is unknown, however, whether collaborative testing improves student retention of course content. Therefore, this study was designed to test the hypotheses that collaborative-group testing improves student retention of course content. To test this hypothesis, our undergraduate exercise physiology class of 38 students was randomly divided into two groups: group A (n = 19) and group B (n = 19). During exam 1, students from both groups answered questions in the traditional format as individuals. Immediately after completing the exam as individuals, students from group A answered a randomly selected subset of questions from exam 1 in groups of two (1 group had 3 students) to test the effectiveness of collaborative-group testing on test performance and level of student retention. On the next exam (exam 2, 4 wk later), students from both groups answered questions in the traditional format as individuals and responded to the same subset of questions from exam 1. The subset of questions was analyzed to determine the level of retention of the original test material. In addition, immediately after completing the exam as individuals, students from group B answered a randomly selected subset of questions from exam 2 in groups of two (1 group had 3 students). Finally, on the next exam (exam 3, 4 wk later), students from both groups answered questions in the traditional format as individuals and responded to the same subset of questions from exam 2. This protocol followed a randomized crossover design to control for time and order effects. Student retention of course content was reduced when students completed the original examinations individually. In sharp contrast, student retention was improved (P < 0.05) when students completed the original examinations in groups. Results suggest that collaborative testing is an effective strategy to enhance learning and increase student retention of course content.     

Medical students' attitudes toward genetic testing of minors

The purpose of this study was to examine attitudes of medical students at a single university toward genetic testing in minors, defining attitudes as willingness to offer testing, and reasons for offering or not offering testing. A survey was distributed to all University of Arizona medical students (n = 428) during the 2003-2004 academic year. The survey consisted of three clinical vignettes concerning genetic testing for Huntington's disease (HD), BRCA1 breast cancer predisposition mutation, and cystic fibrosis (CF) carrier status. For each vignette, students responded to whether they would provide testing for a 7-year-old, a 17-year-old, and their reasons for each age and condition. One hundred thirty-five students (31.5%) responded to the survey. Medical students were significantly more likely to test a 7-year-old for CF carrier status (57%), than they were for a BRCA1 mutation (47%), and an HD mutation (40%). Students were significantly more likely to test a 17-year-old than a 7-year-old in each clinical scenario. Students who had completed a genetics course in medical school were significantly less likely to test a 7-year-old for a BRCA1 mutation than those who had not completed a formal course. Medical students' willingness to perform genetic testing in a minor is influenced by the type of condition, the age of the minor being tested, and the amount of genetics education received in medical school.     

Do Ask,Do Tell: High Levels of Acceptability by Patients of Routine Collection of Sexual Orientation and Gender Identity Data in Four Diverse American Community Health Centers

Background

The Institute of Medicine and The Joint Commission have recommended asking sexual orientation and gender identity (SOGI) questions in clinical settings and including such data in Electronic Health Records (EHRs). This is increasingly viewed as a critical step toward systematically documenting and addressing health disparities affecting lesbian, gay, bisexual, and transgender (LGBT) people. The U.S. government is currently considering whether to include SOGI data collection in the Stage 3 guidelines for the incentive program promoting meaningful use of EHR. However, some have questioned whether acceptable standard measures to collect SOGI data in clinical settings exist.

Methods

In order to better understand how a diverse group of patients would respond if SOGI questions were asked in primary care settings, 301 randomly selected patients receiving primary care at four health centers across the U.S. were asked SOGI questions and then asked follow-up questions. This sample was mainly heterosexual, racially diverse, and geographically and regionally broad.

Results

There was a strong consensus among patients surveyed about the importance of asking SOGI questions. Most of the LGBT respondents thought that the questions presented on the survey allowed them to accurately document their SOGI. Most respondents—heterosexual and LGBT—answered the questions, and said that they would answer such questions in the future. While there were some age-related differences, respondents of all ages overwhelmingly expressed support for asking SOGI questions and understood the importance of providers'' knowing their patients'' SOGI.

Conclusions

Given current deliberations within national health care regulatory bodies and the government''s increased attention to LGBT health disparities, the finding that patients can and will answer SOGI questions has important implications for public policy. This study provides evidence that integrating SOGI data collection into the meaningful use requirements is both acceptable to diverse samples of patients, including heterosexuals, and feasible.     

Regret Expression and Social Learning Increases Delay to Sexual Gratification

Objective

Modification and prevention of risky sexual behavior is important to individuals’ health and public health policy. This study employed a novel sexual discounting task to elucidate the effects of social learning and regret expression on delay to sexual gratification in a behavioral task.

Methods

Amazon Mechanical Turk Workers were assigned to hear one of three scenarios about a friend who engages in similar sexual behavior. The scenarios included a positive health consequence, a negative health consequence or a negative health consequence with the expression of regret. After reading one scenario, participants were asked to select from 60 images, those with whom they would have casual sex. Of the selected images, participants chose one image each for the person they most and least want to have sex with and person most and least likely to have a sexually transmitted infection. They then answered questions about engaging in unprotected sex now or waiting some delay for condom-protected sex in each partner condition.

Results

Results indicate that the negative health outcome scenario with regret expression resulted in delayed sexual gratification in the most attractive and least STI partner conditions, whereas in the least attractive and most STI partner conditions the negative health outcome with and without regret resulted in delayed sexual gratification.

Conclusions

Results suggest that the sexual discounting task is a relevant laboratory measure and the framing of information to include regret expression may be relevant for prevention of risky sexual behavior.     

Molecular methods for rapid detection of aneuploidy

Rapid molecular biological methods for prenatal diagnosis of the most common aneuploidies, collectively known as rapid aneuploidy testing, are compared in this review. We discuss methodological problems and limitations of these various methods. All these techniques are believed to be accurate and carry a low risk of misdiagnosis, but they differ in terms of labour-intensity and amenability to automation and high throughput testing. The question how to apply them safely and economically in a clinical setting has not been answered yet. The discussed techniques are so far not used as stand-alone tests, but some of them are routinely applied as a preliminary test that shortens the waiting time for classic cytogenetic karyotyping. In the future, mainly because of economical reasons, these methods may replace cytogenetics in the category of patients who make up the majority of those currently offered prenatal karyotyping: patients with moderately increased risk and no abnormalities detected by ultrasound.