Human genome agreements.
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Biomedical subjects
Publications and source records attributed to N A Holtzman.
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Errors that harm patients are infrequently brought to the attention of these patients. The full disclosure of such medical errors is in the best interest of patients because it allows them to understand what has occurred, and to gain appropriate compensation for the harm that they have suffered. Physicians have been given little guidance regarding how to conduct a relationship with the patient after such an injury. We argue that the physician must continue to respect the patient, and communicate honestly with him or her throughout their relationship, even after the patient has been injured. It is painful to admit our errors, especially to those who have been harmed by them. Nevertheless, offering an apology for harming a patient should be considered to be one of the ethical responsibilities of the profession of medicine. Monetary compensation alone is not to be offered as a charitable gesture; rather, it should be accompanied by an apology to demonstrate the responsibility of the physician to the trusting patient. Full and honest disclosure of errors is most consistent with the mutual respect and trust patients expect from their physicians. Clearly, physicians' ethical responsibilities sometimes differ from their legal and risk-management responsibilities.
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.
This article is intended to acquaint those whose principal concerns are the health and safety of workers with genetic screening and some of the medical and ethical issues it raises. Population-based genetic screening increasingly is being considered for predicting future disease in the person being screened. A major problem in screening for alleles that contribute to the development of common, multifactorial disorders is low sensitivity and positive predictive value. In many instances, no demonstrably effective prophylaxis or treatment is available to help those with positive test results. This creates ethical problems of assuring that testing is in the person's best interest and raises in turn issues of autonomy, discrimination, and privacy. Instead of screening for genetic predispositions to harm from workplace exposures, other means of improving the health of workers may bring greater benefits to a higher proportion of workers. The current state of genetic tests for chronic beryllium disease are considered. None are suitable for screening.
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OBJECTIVE: This study measures the incidence of discrepancies among written prescriptions, medication regimens transcribed onto patient discharge instruction sheets (DCIs), and labels on medications dispensed by community pharmacies after discharge of patients from an academic medical center. METHODS: During a 2-month study period, we collected copies of prescriptions and DCIs. We also called care givers after discharge and asked them to read the medication labels that were filled from discharge prescriptions. Care givers were also asked whether they received instruction from community pharmacies. RESULTS: Data were collected on 335 prescriptions for 192 patients. Differences among the prescriptions, DCIs, and medication labels were found for 40 (12%) of the medications prescribed at discharge, representing 19% of the patients studied. Nineteen prescriptions had prescriber errors in dosing frequencies or dosage formulations. Three prescriptions were filled with different medication concentrations or strengths than requested. Prescriptions were altered by the community pharmacists for unexplained reasons in 6 cases, whereas the DCIs and original prescriptions differed in 12 cases. Only 44% of families were counseled about proper medication administration by their pharmacists. CONCLUSIONS: A potential for medication errors exists when pediatric patients are discharged with unfilled prescriptions. The potential may be worsened when discharge instructions are created from a prescription rather than from the label of a dispensed medication. Educational and risk-management efforts should emphasize the importance of writing complete, legible prescriptions and consulting appropriate reference materials to ensure that dose formulations and guidelines are accurate. Whenever possible, prescriptions should be filled before patients are discharged, so that the dispensed medications can be reviewed, and health care providers can provide accurate discharge instructions.
The discovery of inherited gene mutations that increase the risk of certain cancers could greatly expand the use of predictive genetic testing in healthy individuals. In families with hereditary forms of cancer, the use of genetic tests to determine whether family members have inherited susceptibility mutations (ISMs) may improve outcome. Even within high-risk families, questions remain about the role of other genetic, nutritional, and environmental factors in the development of cancer, the value of monitoring people with ISMs, and the safety and efficacy of preemptive interventions. Before screening is undertaken in the general population, these questions must be addressed. Also, the frequency and penetrance of ISMs in the population at large must be determined, as well as the safety and effectiveness of screening. Lastly, mechanisms need to be established to ensure that those offered screening give full, informed, autonomous consent and that laboratories involved in testing meet quality standards.
An Expert Panel convened by the National Cholesterol Education Program has recommended selective screening and treatment of children for high blood cholesterol levels, based on family history of cardiovascular disease or high blood cholesterol. This recommendation is problematic for several reasons. First, the recommended diets are likely to cause only a slight decrease in low-density lipoprotein cholesterol levels, the projected benefits of which will be offset by a similar decrease in high-density lipoprotein cholesterol levels. Lack of efficacy of the recommended diets could lead to use of more restrictive diets or to cholesterol lowering drugs. Second, even under optimistic assumptions, beneficial effects of cholesterol intervention will be small and delayed for many decades. As a result, childhood cholesterol-lowering efforts will not be cost-effective. Third, the Expert Panel's recommendations do not address important gender differences. Girls have higher average cholesterol levels than boys. They will therefore qualify for more dietary and drug treatment despite their lower age-adjusted risk of heart disease and the lack of association between cholesterol levels and cardiovascular mortality in women. Finally, recent evidence from randomized trials, cohort studies, and animal experiments suggests that cholesterol lowering may have serious adverse effects. This evidence was not discussed in the Expert Panel's report. Given current evidence, any screening and treatment of children for high blood cholesterol levels is, at best, premature.
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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.
Much of the current interest in genetics stems from the Human Genome Project. Although the project will accelerate the identification of disease-related genes, as currently formulated it may retard discovery of gene function and effective treatments, thereby prolonging the stage in which people at risk of genetic diseases can be identified but not treated. This stage is fraught with ethical problems. The project's goal of sequencing the entire human genome could also detract from basic biological research, as could the growing interest of universities in biotechnology transfer to the commercial sector.
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.
Efforts to localize human genes to specific chromosomes and then to identify these genes and their role in specific diseases are increasing. These developments will expand the repertoire of genetic tests that are claimed to be predictive of future disease in the person being tested (pre-symptomatic tests) or in future offspring of those being tested (tests for reproductive options). In single-gene (mendelian) disorders, such tests may fail to detect all of the alleles capable of causing disease. In multifactorial disorders, positive results of tests for specific alleles will not always predict future disease because the other necessary factors may be absent. Policies are already in place to provide safe and effective clinical laboratory tests and interventions for subjects with positive test results, and to assure the quality of the laboratories performing such tests, but are not widely known or enforced for genetic tests.