SHOULD CHILDREN AND ADOLESCENTS BE TESTED FOR HUNTINGTON’S DISEASE? ATTITUDES OF FUTURE LAWYERS AND PHYSICIANS IN SWITZERLAND

The objective of the study was to identify future lawyers' and physicians' views on testing children for Huntington's disease (HD) against parents' wishes. After receiving general information about HD, patient autonomy and confidentiality, law students and advanced medical students were shown an interview with a mother suffering from HD who is opposed to informing and testing her two children (aged 10 and 16) for HD. Students then filled out questionnaires concerning their agreement with testing. No significant differences were found between medical and law students or between students from different courses concerning the adolescent son. Three quarters of students thought that he should be told about his mother's disease, and 91% thought the adolescent son should have the opportunity of genetic testing for HD himself. However, significant differences were found concerning the 10-year old son, with 44% of law students and 30% of medical students in favour of testing the child for HD. Students raised some important ethical issues in their elective comments. In conclusion, we found highly positive attitudes towards informing a 16-year old of his mother's HD and offering to test him. These attitudes were not in tune with guidelines. Students did not consider several practical and ethical issues of genetic testing of children and adolescents. Specific education should ensure that attitudes are based on sufficiently detailed knowledge about all aspects of genetic testing of children to discourage pressures on persons at risk of HD.     

Development of a genetics education workshop curriculum for Native American college and university students.

The long-term goal of Genetic Education for Native Americans (GENA), a project funded by the National Human Genome Research Institute (NHGRI), is to provide a balance of scientific and cultural information about genetics and genetic research to Native Americans and thereby to improve informed decision making. The project provides culturally sensitive education about genetic research to Native American medical students and college and university students. Curriculum development included focus groups, extensive review of available curricula, and collection of information about career opportunities in genetics. Special attention was focused on genetic research to identify key concepts, instructional methods, and issues that are potentially troublesome or sensitive for Native Americans. Content on genetic research and careers in genetics was adapted from a wide variety of sources for use in the curriculum. The resulting GENA curriculum is based on 24 objectives arranged into modules customized for selected science-related conference participants. The curriculum was pretested with Native American students, medical and general university, health care professionals, and basic scientists. Implementation of the curriculum is ongoing. This article describes the development and pretesting of the genetics curriculum for the project with the expectation that the curriculum will be useful for genetics educators working in diverse settings.     

Teaching human genetics in biochemistry by computer literature searching.

We describe a new user-intense-learning experience that incorporates the teaching of clinical and research applications of human genetics in biochemistry while training first-year medical students to develop skills in computer access to the literature. Human genetics was incorporated into the biochemistry curriculum by providing each student with experience in on-line literature searching in MEDLINE, using Grateful Med, in order to write an abstract about a specific inherited biochemical disorder. We stressed the need for the students to obtain current information in order to understand and interpret the rapidly changing field of human genetics. We taught the students that the most efficient method of obtaining such information was by searching the medical literature via computer.     

Students online: learning medical genetics.

It is possible to focus medical genetics education by using a model that integrates the skills of end-user searching of the medical literature into the traditional course content. Since 1988, 313 first-year medical students were studied as they accessed MEDLINE to retrieve information about biochemical genetic disorders. Their search behavior was studied by analyzing data from the National Library of Medicine's traffic files. The skills that they initially learned were reinforced as they searched clinical genetics problem cases in the second-year pathology course, and these skills were consolidated in the third year when the students addressed specific patient-care questions in pediatrics. The students' perception of the value of this model was studied by analyzing questionnaires completed during the exercise. It was demonstrated that when students were taught the skills of accessing MEDLINE by computer, they could formulate a question, retrieve current information, critically review relevant articles, communicate effectively, and use these skills to contribute to patient care.     

FURTHERING INJUSTICES AGAINST WOMEN: GENETIC INFORMATION, MORAL OBLIGATIONS, AND GENDER

The purpose of this paper is to show that a decontextualized approach to ethical issues is not just unhelpful for the decision making process of real, situated human beings, but dangerous. This is so, because by neglecting the context in which people make moral decisions we run the risk of reinforcing or furthering injustices against already disadvantaged groups. To show this, I evaluate three moral obligations that our ability to obtain genetic information has made salient: the duty to obtain genetic information about ourselves, the obligation to inform family members about genetic risks and the duty not to reproduce when we know that there is a high risk of transmitting a serious disease or defect. I will argue here that in ignoring the context in which these moral obligations are put into practice, and in particular the situation of women in our society, those who defend these moral duties might be furthering injustices against women.     

A survey of medical directors of life insurance companies concerning use of genetic information.

Rapid advances in our ability to test persons presymptomatically for genetic diseases have generated increasing concern that genetic information will be abused by insurance companies. Reasoning that the insurance companies may have the strongest interest in using genetic data and that the medical directors of those companies with responsibility for rating applicants would be a good source of information on the use of such data, we conducted a large survey of medical directors of North American life insurance companies. We received responses from 27 medical directors. Our results suggest that (1) few insurers perform genetic tests on applicants, but most are interested in accessing genetic test information about applicants that already exists; (2) the degree of insurers' interest in using genetic test results may depend on the face amount of the policy applied for and on the specificity and sensitivity of the test; (3) many companies employ underwriting guidelines with respect to certain genetic conditions but may not always have specific actuarial data in house to support their rating decisions; (4) a considerable degree of subjectivity is involved in most insurers' rating decisions; and (5) some of the medical directors who responded to our survey are not fully informed about certain basic principles of medical genetics.     

Getting a head start: the importance of personal genetics education in high schools

With advances in sequencing technology, widespread and affordable genome sequencing will soon be a reality. However, studies suggest that "genetic literacy" of the general public is inadequate to prepare our society for this unprecedented access to our genetic information. As the current generation of high school students will come of age in an era when personal genetic information is increasingly utilized in health care, it is of vital importance to ensure these students understand the genetic concepts necessary to make informed medical decisions. These concepts include not only basic scientific knowledge, but also considerations of the ethical, legal, and social issues that will arise in the age of personal genomics. In this article, we review the current state of genetics education, highlight issues that we believe need to be addressed in a comprehensive genetics education curriculum, and describe our education efforts at the Harvard Medical School-based Personal Genetics Education Project.     

What research participants want to know about genetic research results: the impact of "genetic exceptionalism"

The disclosure of individual genetic results has generated an ongoing debate about which rules should be followed. We aimed to identify factors related to research participants' preferences about learning the results of genomic studies using their donated tissue samples. We conducted a cross-sectional survey of 279 patients from the United States and Spain who had volunteered to donate a sample for genomic research. Our results show that 48% of research participants would like to be informed about all individual results from future genomic studies using their donated tissue, especially those from the U.S. (71.4%) and those believing that genetic information poses special risks (69.7%). In addition, 16% of research participants considered genetic information to be riskier than other types of personal medical data. In conclusion, our study demonstrates that a high proportion of participants prefer to be informed about their individual results and that there is a higher preference among those research subjects who perceive their genetic information as riskier than other types of personal medical data.     

Genetic testing and insurance. The Ad Hoc Committee on Genetic Testing/Insurance Issues.

The rapid expansion of opportunities for genetic testing has been accompanied by complex questions about the appropriate relationships between providers, patients, and insurers. Some of these questions involve large public-policy decisions, such as whether the government should guarantee access to health care for all citizens. Universal access to health care, without regard to past, present, or future risk of disease, could eliminate risk-oriented underwriting in health-care coverage. A positive response to that question will ameliorate other problems. Until universal access is reality, genetic testing and genetic diagnosis will raise important issues for the practicing geneticist. How much does a client need to know about insurance implications before consenting to a genetic test? Should patients be counseled to purchase insurance before being tested? Should genetic information be excluded from medical records before their release to insurance companies for routine reimbursements or underwriting? What are the ethical and legal responsibilities of the geneticist?     

Personalized diagnosis by cached solutions with hypertension as a study model

Statistical modeling of links between genetic profiles with environmental and clinical data to aid in medical diagnosis is a challenge. Here, we present a computational approach for rapidly selecting important clinical data to assist in medical decisions based on personalized genetic profiles. What could take hours or days of computing is available on-the-fly, making this strategy feasible to implement as a routine without demanding great computing power. The key to rapidly obtaining an optimal/nearly optimal mathematical function that can evaluate the "disease stage" by combining information of genetic profiles with personal clinical data is done by querying a precomputed solution database. The database is previously generated by a new hybrid feature selection method that makes use of support vector machines, recursive feature elimination and random sub-space search. Here, to evaluate the method, data from polymorphisms in the renin-angiotensin-aldosterone system genes together with clinical data were obtained from patients with hypertension and control subjects. The disease "risk" was determined by classifying the patients' data with a support vector machine model based on the optimized feature; then measuring the Euclidean distance to the hyperplane decision function. Our results showed the association of renin-angiotensin-aldosterone system gene haplotypes with hypertension. The association of polymorphism patterns with different ethnic groups was also tracked by the feature selection process. A demonstration of this method is also available online on the project's web site.     

Legal aspects of genetic information

The federally funded Human Genome Initiative will lead to the development of new capabilities to learn about an individual''s genetic status. Legal issues are raised concerning patients'' and other parties'' access to that information. This article discusses the effect of existing statutes and case law on three pivotal questions: To what sort of information are people entitled? What control should people have over their genetic information? Do people have a right to refuse genetic information? The article emphasizes that the law protects a patient''s right to obtain or refuse genetic information about oneself, as well as the right to control the dissemination of that information to others.     

医学细胞生物学教学初探

在医学细胞生物学教学过程中,教师以学生为主体,精心备课;采用多媒体教学方式,用适当的手段和教学方法培养学生的兴趣;引导学生利用网络资源提高分析问题、解决问题的能力;注重反馈信息,多与学生接触和沟通,取得了较好的教学效果。     

Innovations in human genetics education. Medical student elective in clinical genetics.

The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 10 students choosing an elective in clinical genetics have undertaken the project. Their feedback suggests that the requirements of decision making, library research, discussion with consultants, and medical writing in a limited time period are beneficial additions to the standard elective.     

Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records

To reduce costs and improve clinical relevance of genetic studies, there has been increasing interest in performing such studies in hospital-based cohorts by linking phenotypes extracted from electronic medical records (EMRs) to genotypes assessed in routinely collected medical samples. A fundamental difficulty in implementing such studies is extracting accurate information about disease outcomes and important clinical covariates from large numbers of EMRs. Recently, numerous algorithms have been developed to infer phenotypes by combining information from multiple structured and unstructured variables extracted from EMRs. Although these algorithms are quite accurate, they typically do not provide perfect classification due to the difficulty in inferring meaning from the text. Some algorithms can produce for each patient a probability that the patient is a disease case. This probability can be thresholded to define case–control status, and this estimated case–control status has been used to replicate known genetic associations in EMR-based studies. However, using the estimated disease status in place of true disease status results in outcome misclassification, which can diminish test power and bias odds ratio estimates. We propose to instead directly model the algorithm-derived probability of being a case. We demonstrate how our approach improves test power and effect estimation in simulation studies, and we describe its performance in a study of rheumatoid arthritis. Our work provides an easily implemented solution to a major practical challenge that arises in the use of EMR data, which can facilitate the use of EMR infrastructure for more powerful, cost-effective, and diverse genetic studies.     

Karma, reincarnation, and medicine: Hindu perspectives on biomedical research

Prior to the completion of the Human Genome Project, bioethicists and other academics debated the impact of this new genetic information on medicine, health care, group identification, and peoples’ lives. A major issue is the potential for unintended and intended adverse consequences to groups and individuals. When conducting research in, for instance, American Indian and Alaskan native (AI/AN) populations, political, cultural, religious and historical issues must be considered. Among African Americans, the Tuskegee Syphilis Experiment is a reminder of racism and discrimination in this country. The goal of the current study is to understand reasons for participating, or not, in genetic research such as the HapMap project and other genetic/medical research from the perspective of the Indian American community in Houston, Texas. In this article, we report on a topic central to this discussion among Indian Americans: karma and reincarnation. Both concepts are important beliefs when considering the body and what should happen to it. Karma and reincarnation are also important considerations in participation in medical and genetic research because, according to karma, what is done to the body can affect future existences and the health of future descendants. Such views of genetic and medical research are culturally mediated. Spiritual beliefs about the body, tissue, and fluids and what happens to them when separated from the body can influence ideas about the utility and acceptability of genetic research and thereby affect the recruitment process. Within this community it is understood that genetic and environmental factors contribute to complex diseases such as diabetes, hypertension, and cancer; and acknowledgment of the significance of environmental stressors in the production of disease. A commitment to service, i.e. “betterment of humanity,” karmic beliefs, and targeting environmental stressors could be prominent avenues for public health campaigns in this population. This study suggests that minority status does not automatically indicate unwillingness to participate in genetic or medical research. Indian Americans were not skeptical about the potential benefits of biomedical research in comparison to other ethnic minority communities in the United States.     

Current trends in mapping human genes

The human is estimated to have at least 50,000 expressed genes (gene loci). Some information is available concerning about 5000 of these gene loci and about 1900 have been mapped, i.e., assigned to specific chromosomes (and in most instances particular chromosome regions). Progress has been achieved by a combination of physical mapping (e.g., study of somatic cell hybrids and chromosomal in situ hybridization) and genetic mapping (e.g., genetic linkage studies). New methods for both physical and genetic mapping are expanding the armamentarium. The usefulness of the mapping information is already evident; the spin-off from the Human Genome Project (HGP) begins immediately. The complete nucleotide sequence is the ultimate map of the human genome. Sequencing, although already under way for limited segments of the genome, will await further progress in gene mapping, and in particular creation of contig maps for each chromosome. Meanwhile the technology of sequencing and sequence information handling will be developed. It is argued that the HGP is a new form of coordinated, interdisciplinary science; that its primary objective must be seen as the creation of a tool for biomedical research--a source book that will be the basis of study of variation and function for a long time; that the impact on scientist training will be salutary by relieving graduate students of useless drudgery and by training scientists competent in both molecular genetics and computational science; and that the funding of the HGP will have an insignificant negative effect on science funding generally, and indeed may have a beneficial effect through economy of scale and a focusing of attention on the excitement of biology and medical science.     

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.     

Assessing students’ knowledge of owls from their drawings and written responses

Many children learn about and experience animals in the everyday environment where they live and attend school. One way to obtain information about children’s understanding of concepts or phenomena is by using their drawings in combination with written responses or interviews. This study assesses how much Slovenian students 10–15 years old (in sixth to ninth grade) know about owls by analysing their drawings and written responses. The study included 473 students. From assessing students’ drawings and written responses, it can be concluded that the respondents had some knowledge of owls’ appearance, their behaviours, diet and habitats. The differences between students in different grades regarding the representations of owls was not statistically significant. Some students had misconceptions about owls, such as the idea that owls can turn their heads 360 degrees, or they confused the long ear-tufts with external parts of the ears. The students’ written responses provided additional information on their ideas about owls; particularly about owls’ specific behaviours, diet, and conservational status. However, some information, such as depicting owls’ body parts and body proportions or their habitats, was more clearly depicted with drawings. One third of the students drew owls in trees and forests, which makes owls good candidates for promoting forest conservation.