Elementary school-aged children's reports of their health: a cognitive interviewing study.

There are no standard methods for assessing the quality of young children's perceptions of their health and well-being and their ability to comprehend the tasks involved in reporting their health. This research involved three cross-sectional studies using cognitive interviews of 5-11-year-old children (N = 114) to determine their ability to respond to various presentations of pictorially illustrated questions about their health. The samples had a predominance of children in the 5-7-year-old range and families of lower and middle socio-economic status. The research questions in Study 1 involved children's ability to convert their health experiences into scaled responses and relate them to illustrated items (n = 35); Study 2 focused on the type of response format most effectively used by children (n = 19); and Study 3 involved testing children's understanding of health-related terms and use of a specific recall period (n = 60). The results of Study 1 showed that children identified with the cartoon drawing of a child depicted in the illustrated items, typically responding that the child was at or near their own age and of the same gender, with no differences related to race. Study 2 results indicated that children responded effectively to circles of graduated sizes to indicate their response and preferred them to same-size circles or a visual analogue scale. Tests of three-, four-, and five-point response formats demonstrated that children could use them all without confusion. In Study 3, expected age-related differences in understanding were obtained. In fact, the 5-year-old children were unable to understand a sufficient number of items to adequately describe their health. Virtually all children 8 years of age and older were able to fully understand the key terms and presentation of items, used the full five-point range of response options, and accurately used a 4-week recall period. Six- and seven-year-olds were more likely than older children to use only the extreme and middle responses on a five-point scale. No pattern of gender differences in understanding or in use of response options was found. We conclude that children as young as eight are able to report on all aspects of their health experiences and can use a five-point response format. Children aged 6-7 had difficulty with some health-related terms and tended to use extreme responses, but they understood the basic task requirements and were able to report on their health experiences. These results provide the guidance needed to develop and test a pediatric health status questionnaire for children 6-11 years old.

Mothers and daughters from breast cancer families: a qualitative study of their perceptions of risks and benefits associated with minor's participation in genetic susceptibility research.

OBJECTIVES: To determine: 1) the views of daughters at increased risk of developing breast cancer regarding the benefits and risks of participating in genetic susceptibility research; 2) mothers' views about enrolling their daughters in genetic susceptibility research; and 3) any important areas of agreement and disagreement between mothers and daughters in their assessment of risks and benefits. METHODS: We conducted separate interviews of mothers and daughters from 12 breast cancer families recruited primarily through the Breast Center at Johns Hopkins University. Daughters were between the ages of 10 and 17. Interviews were transcribed and coded and analyzed qualitatively. RESULTS: We observed that mothers and daughters had a range of reactions to the prospect of enrolling children and adolescents in genetic susceptibility research, that perceptions of benefits and risks were fairly concordant between mothers and daughters, and that daughters initially identified no risks of participating, but their perceptions of the risks and benefits of genetic susceptibility research evolved over the course of conversation. CONCLUSION: These findings underscore the view that informed consent ought to be a "process" rather than a single event, and that children's first reactions to the prospect of participating in genetic testing research should not be taken as evidence that they have adequately considered the risks and benefits of participation.

Should women at increased risk for breast and ovarian cancer be randomized to prophylactic surgery? An ethical and empirical assessment.

More information is needed about the relative effectiveness of prophylactic surgery, chemoprevention, and surveillance in reducing breast and ovarian cancer risk in women with an inherited susceptibility mutation. We assessed practical and ethical barriers to conducting randomized clinical trials (RCTs) to compare preventive interventions for breast and ovarian cancer. Eighty-seven at-risk women who attended an education and counseling session about BRCA1/2 testing were asked about their willingness to participate in hypothetical research studies for breast and ovarian cancer risk reduction. In addition, 247 Maryland physicians from five specialties completed a mail survey including a question about their likelihood of recommending RCT participation to an at-risk woman. Nineteen percent of at-risk women reported willingness to participate in a hypothetical RCT for breast cancer risk reduction and 17% for ovarian cancer risk reduction. Women with children and women likely to have a prophylactic mastectomy if found to have a susceptibility mutation were significantly more willing to participate in an RCT. A majority of women would be willing to participate in nonrandomized trials or registries. Fifty-two percent of physicians responded that they would be likely to recommend RCT participation to a woman carrying a breast cancer susceptibility mutation. Oncologists were the most likely to recommend an RCT. Although the results of nonrandomized trials may be difficult to interpret because of such issues as selection bias. Greater feasibility combined with fewer ethical concerns make nonrandomized trials a more viable alternative to randomized trials for evaluation of preventive interventions for breast and ovarian cancer when prophylactic surgery is one of the treatments being evaluated.

The health profile of incarcerated male youths.

OBJECTIVE: To identify the health needs of adolescent males incarcerated in a juvenile justice facility and to compare their health profiles with those of male adolescents in the community. METHODS: Cross-sectional surveys were conducted of incarcerated (N = 202) and school (N = 379) samples of male youths. Questionnaires were self-administered and completed before admission health screens (incarcerated youth) or in classrooms (school sample). Health status was assessed by the Child Health and Illness Profile, Adolescent Edition, using scale and item means and by categorizing each youth's pattern of health into 1 of 13 mutually exclusive health profile types. RESULTS: Compared with school counterparts, incarcerated male youths had significantly worse health status as demonstrated by poorer health and functioning scores in perceived well being, self-esteem, physical discomfort, acute, chronic, and psychosocial disorders, family involvement, physical activity, interpersonal problem-solving, risk behaviors, and academic performance. Three profile types-High Risks, High Risks/Low Resilience, and Worst Health-accounted for patterns of health for 69.8% of incarcerated youth versus 37.3% of an age-matched school sample. Just 6.4% of incarcerated males were in the Excellent/Good Health profile types, which contrasted with 34.2% of the age-matched school sample. CONCLUSIONS: The health profiles of incarcerated male youths were worse than those of male youths in school. Our results indicate that rehabilitation programs will need to address incarcerated youth's basic health needs as well as modifying their risk and antisocial behaviors.

Genetic testing for breast cancer susceptibility: awareness and interest among women in the general population.

Previous research has suggested that demand for genetic testing for breast cancer susceptibility may be quite high, even among those at relatively low risk of carrying a mutation. This study examined the extent to which a group of female HMO enrollees were aware of the discovery of the BRCA1 gene and, without having received detailed information about the test, whether they would be interested in being tested to find out if they have the gene. Factors associated with awareness of and interest in testing were also examined. Four hundred seventy-three women age 50 and over, almost all of whom did not have an increased risk of breast cancer based on family history, were surveyed by telephone. Fifty-one percent of respondents had heard about the discovery of a breast cancer gene. In logistic regression analysis, women who described themselves as comfortable financially, had at least some college education, and were premenopausal were more likely to have heard of the gene discovery than women who were not comfortable financially, had no more than a high school education, and were postmenopausal. Sixty-nine percent of the respondents said that they would be interested in being tested to find out if they had a breast cancer gene. Women who were younger than 60, white, believed their family would benefit if they had a mammogram, and believed that regular mammograms give them a feeling of control over their health, were more likely to be interested in testing than those who were 60 or older, African-American or other, and did not believe that their family would benefit if they had a mammogram or that mammograms give them a feeling of control over their health. These findings have implications for education and counseling. Women who express an interest in being tested must be made fully aware of the limitations and possible consequences of testing. Special efforts may be needed to make information about testing available to women who have low levels of education.

Educating patients about cystic fibrosis carrier screening in a primary care setting.

OBJECTIVE: To assess the effectiveness of education about cystic fibrosis carrier screening in a primary care setting. DESIGN: Participants were asked to read a brochure, and were offered cystic fibrosis carrier screening. They were assessed for knowledge after reading the brochure and again after having an opportunity to ask questions and reread the brochure at home, at which time consent for testing was obtained. SETTING: Two sites of a health maintenance organization in the Baltimore, Md, area. PARTICIPANTS: Enrollees in a health maintenance organization aged 18 to 44 years. Of 608 enrollees approached, 477 completed an initial knowledge questionnaire, and 143 consented to testing. MAIN OUTCOME MEASURE: Change in knowledge score. RESULTS: Knowledge scores improved from a mean of 69% correct initially to 75% at the time of consent (P < 0.1, Student's paired t test). When participants were stratified by educational attainment, significant improvement was observed only for participants with no more than a high school education. However, their final knowledge score was significantly lower than that of college graduates. CONCLUSIONS: For people with more formal education, printed materials augmented by a chance to ask questions may be sufficient to ensure informed consent. For less well-educated persons, additional education may be necessary to ensure understanding of difficult concepts.

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.

Involving consumers in the development of an educational program for cystic fibrosis carrier screening.

Input from consumers of health care was sought in developing an educational program to be provided to individuals who are considering carrier testing for cystic fibrosis (CF). In addition, we assessed the ability of health professionals to predict consumers' priorities with regard to such information. A focus group of six middle school teachers formulated questions that they would ask in trying to decide whether they wanted carrier screening for CF. Then, other adults with (n = 39) and without (n = 60) a family history of CF were presented with the questions and were asked to select the questions in the order in which they would want them answered if offered the carrier test. After each question was answered, they were asked whether they would want the carrier test if it were offered to them. CF clinic staff, clinical geneticists, and genetic counselors (n = 31) were asked to select the questions in the order in which they believed that an adult from the general population would want them answered. There were no differences in the order in which adults with and without a family history of CF would want questions answered. Consumers would want to learn about the carrier test as well as their risk of being a carrier and of having a child with CF, before receiving information on reproductive options and the effect that a child with CF would have on the family. Of the 44% of consumers who changed their mind about wanting screening during the course of selecting questions, 52% did so after the first question that they selected.(ABSTRACT TRUNCATED AT 250 WORDS)

Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening.

With the identification of the cystic fibrosis (CF) gene and its major mutations in 1989, there has been considerable debate among health professionals as to whether population-based carrier testing should be instituted. This paper presents the results of a survey to determine the attitudes of physicians and genetics professionals toward CF carrier testing. Factors associated with differences in attitudes also were examined. A questionnaire was mailed to primary care physicians and psychiatrists in 10 states who graduated from medical school between 1950 and 1985. For comparison, medical geneticists and genetic counselors in the same states also received the questionnaire. A total of 1,140 primary care physicians and psychiatrists (64.8%) and 280 medical geneticists and genetic counselors (79.1%) responded. Although 92% of respondents believed that a couple should be tested after asking about a test that detected 80% of carriers, only 43.9% of respondents believed such a test should be offered routinely. Those specialists most likely to have been involved in genetic services were most opposed to routine screening. The most important reason reported for opposition to routine screening was the consequences of an 80% detection rate. When presented with a hypothetical "error-free" test, 75.9% of respondents favored routine testing. Our findings suggest that there was little support for routinely offering the CF carrier test available at the time of this study among the physicians and professionals most involved in the provision of genetic services.

Measuring physicians' tolerance for ambiguity and its relationship to their reported practices regarding genetic testing.

Despite uncertainties in medicine, attempts to study physicians' tolerance for uncertainty have been few, and limited by the measurement instruments available. This paper describes development of a modified tolerance for ambiguity (TFA) scale, and correlates it with several physician characteristics and reported behaviors. Eighteen TFA items were included in a national survey of physicians' knowledge and attitudes about genetic testing. Sixty-five percent (n = 1,140) of 1,759 obstetricians, pediatricians, internists, family practitioners, and psychiatrists responded. After psychometric analyses, the scale was reduced to 7 items, demonstrating an acceptable reliability (Cronbach's alpha = .75). TFA was higher among psychiatrists than other specialties, among those who were older when they graduated from medical school, and among those willing to offer a new low-cost, accurate predictive test when none of their colleagues do. TFA was lower among those who indicated that attendance at religious services was important, among those who would make a recommendation to their patients regarding pregnancy termination after prenatal diagnosis, and among those who would withhold negative genetic test results. Future research is needed on the scale itself, and to assess factors affecting TFA, such as its susceptibility to modification, and its potential association with clinical practice in other areas of medicine that are characterized by ambiguity.

Improving response rates through incentive and follow-up: the effect on a survey of physicians' knowledge of genetics.

OBJECTIVES: This study assessed efforts to increase response rates to a mailed physician survey and examined whether, as a result, nonresponse bias was reduced. METHODS: Randomly selected physicians and geneticists were mailed a questionnaire concerning genetics knowledge and attitudes. In the final but not the pilot survey, a $25 incentive and intensive follow-up were used to increase the response rate. RESULTS: The response rate from physicians in the final survey was 64.8% (n = 1140), compared with 19.6% in the pilot test (n = 69). Sample representatives in sociodemographic and practice characteristics was improved by follow-up. Respondents recruited with more difficulty did not differ on the principal outcome variable, genetics knowledge, except on one subscore. Pilot study and final survey respondents did not differ in knowledge. CONCLUSIONS: Although the effect of increased response rates on the principal outcome variable in this study was minimal, this may not be the case for other studies. Every effort should be made to attain as high a response rate as is practical and to establish that respondents are representative of the population being sampled.

Incorporation of genetics in primary care practice. Will physicians do the counseling and will they be directive?

OBJECTIVE: To determine, by response to a scenario, how willing primary care physicians would be to counsel a couple about prenatal diagnosis of cystic fibrosis and how directive they would be about whether the couple should undergo prenatal diagnosis and whether the couple should terminate the pregnancy if the fetus is affected. DESIGN: Survey of a random sample of primary care physicians, psychiatrists, and genetics professionals in 10 geographically representative states. RESPONDENTS: Sixty-five percent (N = 1140) of 1759 obstetricians, pediatricians, internists, family practitioners, and psychiatrists, and 79% (N = 280) of medical geneticists and genetic counselors. OUTCOMES AND RESULTS: Respondents were evenly divided on whether they would counsel about prenatal diagnosis or refer to a genetic counselor (49.4% and 50.6%, respectively). Those who indicated that they would counsel were likely to have greater knowledge about genetics, greater confidence in communicating about genetics, and higher tolerance for ambiguity and were more likely to have completed their medical training since 1971 and to practice in a rural area. Forty-four percent of physicians would give an opinion about prenatal diagnosis. Men would be more likely to give an opinion than women (P < .005). Only 9.6% of respondents would give an opinion regarding abortion. These respondents were more likely to come from specialties with less exposure to genetics and to value attendance at religious services. Primary care physicians were more likely to give their opinions about prenatal diagnosis and abortion than genetics professionals. CONCLUSIONS: To the extent that attitudes are reflected in practice, genetic counseling may be more directive when provided by primary care physicians than by genetics professionals, unless primary care physicians' growing involvement in genetics changes their attitudes.

Attitudes toward abortion for fetal anomaly in the second vs. the third trimester: a survey of Parisian obstetricians.

Cross-cultural differences exist in prenatal diagnosis and abortion for fetal anomaly, stemming from variations in laws, reimbursement policies, litigation, physicians' decision-making authority, and attitudes toward the prevention of handicaps. The first part of this paper discusses such differences in France and the U.S. The second part describes a survey of practising obstetricians in Paris, designed to assess (1) their attitudes toward pregnancy termination for various conditions, (2) their concern about fetal viability, (3) their desire for diagnostic certainty before justifying a late abortion, and (4) their perceived role in such decision-making. Among the 64.8 per cent (N = 217) who responded, the majority supported third-trimester termination (TTT) for diseases such as spina bifida, trisomy 21, microcephaly, and Duchenne muscular dystrophy; 30-59 per cent supported TTT for cystic fibrosis and sickle cell disease; and 22-29 per cent supported TTT for haemophilia, tetralogy of Fallot, limb amputation, and Turner and Klinefelter syndromes. Obstetricians who approved of abortion across trimesters were less concerned with the certainty of diagnosis than its severity, more likely to think that abortion ought to be the parents' choice, but more likely to report making a recommendation to the parents about whether to abort a fetus. Such permissive abortion attitudes might imply more permissive prenatal diagnosis and abortion practice among Parisian obstetricians, which might lead to increased migration of patients from other E.C. countries. Cross-cultural variation in obstetric practice suggests that an international registry of pregnancies terminated for medical reasons, enabling further study of this issue, would be valuable.

Physicians' knowledge of genetics and genetic tests.

PURPOSE: To assess primary care physicians' and psychiatrists' knowledge of genetics and genetic tests and the factors associated with differences in these physicians' knowledge. METHOD: Questionnaires were mailed in 1991 to 1,795 primary care physicians (family physicians, internists, pediatricians, obstetrician-gynecologists) and psychiatrists who had graduated from medical school between 1950 and 1985 (67.6% of the sample had graduated after 1970) and who were members of professional societies. The questions elicited demographic and practice characteristics as well as knowledge of genetics concepts and facts and awareness of the availability of genetic tests. To validate the questionnaire, 360 medical geneticists and genetic counselors received questionnaires. Statistical analysis involved arc-sine function transformation, t-tests, analyses of variance, F-tests, Tukey's HSD, and stepwise multiple regression. RESULTS: A total of 1,140 (64.8%) of the non-geneticist physicians responded. They correctly answered an average of 73.9%, SD, 13.9%, of the knowledge items, compared with 94.6%, SD, 4.2%, for the genetics professionals (p < .001). The most significant predictors of knowledge were recency of graduation from medical school and practicing in primary care specialties in which exposure to genetics problems is likely. Other significant predictors (from most to least important) were graduation from a U.S. medical school, willingness to adopt a new predictive test before it becomes standard practice, not using pharmaceutical companies as a source of information about new medical practices, and taking a required genetics course in medical school. CONCLUSIONS: The results suggest that knowledge of genetics and genetic tests is increasing among physicians, particularly among more recent graduates and physicians who are exposed to genetics problems in their practices, but deficiencies remain. Although a medical school course in genetics may improve knowledge, it is not sufficient. Greater emphasis is needed at all levels of medical education to reduce the chance of physician error as more genetic tests become available.