Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”

Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations.     

Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study

The ability to perform predictive genetic testing of children raises ethical concerns regarding whether and when to test and the disclosure of results. Semi-structured interviews with a convenience sample of pediatricians (12) and geneticists (13) were conducted to see how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. We also asked about disclosure attitudes and practices for their patients' relatives and within their own families. Respondents would provide predictive genetic testing for most conditions, yet were less likely to seek this information about their own children. Respondents believed it was very important for patients to share some types of genetic information with relatives, and were directive in their counseling about intrafamilial disclosure, especially within their own families. Although respondents would almost never breach patient confidentiality, many would breach confidentiality within their own families. Health care professionals distinguish between their professional and personal roles with regard to issues of access and confidentiality in predictive testing of children. They are willing to provide greater access and more confidentiality for their patients than within their own families.     

Teaching resources for genetics

Genetics education is essential for preparing the public to engage in an informed debate about the future of genetics research and how its applications affect human health and the environment. This article provides an overview of genetics education resources that are available online, and is relevant to students in secondary education, health professionals, geneticists and the public. It also describes an integrated approach to teaching genetics, emphasizes the need for continuing teacher education, and encourages the involvement of geneticists and health professionals in providing a teaching resource.     

A Survey of Attitudes of Local Citizens of a Residential Area Toward Urban Stray Cats in Japan

This study surveyed the attitudes of local residents living in an urban area in Japan toward stray cats. An anonymous questionnaire asked local residents (359 houses) about their attitudes toward stray cats. Responses were received from126 houses (35%). Answers about nuisance, respondents' actions, and actions to be taken with regard to stray cats did not differ by place or type of residence of respondents. More than one third (36.7 ± 16.6%) of the respondents answered that the “bad smell of the feces and urine” was a nuisance. Respondents who lived in detached houses tended to like cats compared with those who lived in condominiums. Respondents who liked cats took care of cats more frequently, whereas those who disliked cats chased cats away and prevented their intrusion into their houses and land. However, it is noteworthy that one third or more (minimum value: 37.8%) of respondents of all kinds answered that neutering is one effective way to suppress the population of stray cats.     

General practitioners' views about the statutory annual practice report.

OBJECTIVE--To ascertain the views of primary care professionals about the current purpose, uses, potential, and workload implications of the statutory general practice annual report. DESIGN--Postal questionnaire survey. SETTING--General practices in the Northern region. SUBJECTS--All practices in the region that were singlehanded, fundholding, non-fundholding and with more than five partners, and a one in three random sample of all non-fundholding practices (n = 318). RESULTS--263 practices responded (83%). The report took a median of 12 hours to produce (95% confidence interval 11 to 15 hours; interquartile range 7-35). The main perceived purpose of the report was to monitor practice activity (165 respondents; 63% (95% confidence interval 57% to 69%)), but 44 respondents (17%; 13% to 22%) produced it only because it was contractually required. Practices included statutory and non-statutory data in these reports and would have liked comparative practice activity information (155 respondents; 59%) and "good ideas" (165 respondents; 63%) fed back to them. Respondents would have liked the annual report used to improve practice development planning (122 respondents; 46% (40% to 52%)), to facilitate audit (115 respondents; 44% (38% to 50%)), and to influence resource allocation (104 respondents; 40% (34% to 46%)). One hundred and eighteen practices (45%; 39% to 51%) would produce an annual report even if not contractually required. Data collected were perceived to be already available elsewhere. CONCLUSIONS--Primary care professionals have concerns about the current annual report. They would prefer to collect relevant, standardised data which could lead to better audit, planning, and resource allocation.     

Continued misuse of multiple testing correction methods in population genetics‐A wake‐up call?

Population geneticists often use multiple independent hypothesis tests of Hardy–Weinberg Equilibrium (HWE), Linkage Disequilibrium (LD), and population differentiation, to make broad inferences about their systems of choice. However, correcting for Family‐Wise Error Rates (FWER) that are inflated due to multiple comparisons, is sparingly reported in our current literature. In this issue of Molecular Ecology Resources, perform a meta‐analysis of 215 population genetics studies published between 2011 and 2013 to show (i) scarce use of FWER corrections across all three classes of tests, and (ii) when used, inconsistent application of correction methods with a clear bias towards less‐conservative corrections for tests of population differentiation, than for tests of HWE, and LD. Here we replicate this meta‐analysis using 205 population genetics studies published between 2013 and 2018, to show the same continued disuse, and inconsistencies. We hope that both studies serve as a wake‐up call to population geneticists, reviewers, and editors to be rigorous about consistently correcting for FWER inflation.     

Multidimensional training among Latin America's restoration professionals

The ambitious restoration commitments made by Latin American countries have increased the demand for professionals having multidimensional training in ecological restoration; however, little is known about the kind of training that professionals are currently receiving. Through an online survey, we explored whether restoration professionals in Latin America have been trained on the ecological, socioeconomic, and management dimensions of ecological restoration, and their perceptions of training constraints and curricula needs. Half of the 411 respondents simultaneously work in academia, governments, and nongovernmental organizations, lessening the typical division between the science and practice of restoration, and suggesting the need for stronger multidimensional training to adequately respond to different needs and expectations. Over 80% received formal academic training in fields relevant for restoration and most respondents also reported attending interdisciplinary courses. Training was more focused on the ecological dimension of restoration compared to socioeconomic or management dimensions. Respondents have similar education levels (i.e. most respondents have postgraduate degrees), independently from the organization type in which respondents work, and multidimensionality among organization types was slight. Professionals expressed a need for training opportunities not demanding full‐time dedication. Although increasing training opportunities in socioeconomic and management dimensions is needed, we highlight opportunities to reinforce multidimensional training on restoration through organizational and institutional training, and collaborations among organizations.     

Internet resources for the human geneticist

The Internet is a massive expanding body of information, which is likely to play a significant role for clinicians and researchers across the world. Since its inception in December 1969 the Internet has grown rapidly and is anticipated to expand 1,000% in the coming next few years. Various useful databases on human genetics are already in 'the Net' and many more are being added constantly. The future of human geneticist is in handling of information. In this review of Internet and compilation of important web site addresses we expect to stimulate and instruct human geneticists in navigating the Net. The list of web sites provided in this article is expected to facilitate their search.     

Advances in medical genetics.

Although advances in medical genetics are designed ultimately to help human beings receive better health care, they pose many problems for society. Some of these concerns are real, but others result from misunderstanding and/or misrepresentation of the true implication of certain developments in genetics. It is obvious that the geneticist must play a dual role in society as scientist and as advocate. Although such a duality or role is not easy, it is not impossible. However, it does mean that the training of the medical geneticist must include more than exposure to the scientific approach.     

Letter: Interferon in serum and cerebrospinal fluid in subacute sclerosing panencephalitis.

In a household health survey more than 15 000 individuals in four areas of Canada were interviewed as part of the World Health Organization/International Collaborative Study of Medical Care Utilization. Data were collected to describe the health services system in each area and to measure the population''s utilization of health professionals, hospitals, medicines and selected preventive services, perceived acute and chronic morbidity, attitudes and beliefs about health and health care, and sociodemographic characteristics. The proportion of persons with perceived morbidity was twice that of persons reporting visits with a physician in the same 2-week period. Prescribed and nonprescribed medications had been used by more than 50% of respondents in each area in the 2 days before the interview, nonprescribed medicines accounting for more than half of this use. Respondents were found to be more sceptical of medical doctors than of medical science.     

A report from Japan: choices of Japanese patients in the face of disagreement

Background: Patients in different countries have different attitudes toward self-determination and medical information. Little is known how much respect Japanese patients feel should be given for their wishes about medical care and for medical information, and what choices they would make in the face of disagreement.
Methods: Ambulatory patients in six clinics of internal medicine at a university hospital were surveyed using a self-administered questionnaire.
Results: A total of 307 patients participated in our survey. Of the respondents, 47% would accept recommendations made by physicians, even if such recommendations were against their wishes; 25% would try to persuade their physician to change their recommendations; and 14% would leave their physician to find a new one.
Seventy-six percent of the respondents thought that physicians should routinely ask patients if they would want to know about a diagnosis of cancer, while 5% disagreed; 59% responded that physicians should inform them of the actual diagnosis, even against the request of their family not to do so, while 24% would want their physician to abide by their family's request and 14% could not decide. One-third of the respondents who initially said they would want to know the truth would yield to the desires of the family in a case of disagreement.
Interpretations: In the face of disagreement regarding medical care and disclosure, Japanese patients tend to respond in a diverse and unpredictable manner. Medical professionals should thus be prudent and ask their patients explicitly what they want regarding medical care and information.     

Social responsibility in human genetics – a survey

The potential for molecular biological manipulation of human beings is a challenge to the social responsibility of human geneticists. The concept of individual healthcare is compromised by a reductionist approach to human biology which defines health solely in terms of genetics. The ability of professionals working in the fields of molecular biology and human genetics to understand the wider social context of their work and the effects it may have on individual health is rarely discussed. This is a report of a survey of social attitudes and awareness carried out among molecular biologists and human geneticists in Germany. The results reveal differences in the understanding of health and these perceptions are shown to depend on the age and gender of the professionals involved.     

Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequencing

Professional recommendations for the return of results from exome and whole-genome sequencing (ES/WGS) have been controversial. The lack of clear guidance about whether and, if so, how to return ES/WGS incidental results limits the extent to which individuals and families might benefit from ES/WGS. The perspectives of genetics professionals, particularly those at the forefront of using ES/WGS in clinics, are largely unknown. Data on stakeholder perspectives could help clarify how to weigh expert positions and recommendations. We conducted an online survey of 9,857 genetics professionals to learn their attitudes on the return of incidental results from ES/WGS and the recent American College of Medical Genetic and Genomics Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Of the 847 respondents, 760 completed the survey. The overwhelming majority of respondents thought that incidental ES/WGS results should be offered to adult patients (85%), healthy adults (75%), and the parents of a child with a medical condition (74%). The majority thought that incidental results about adult-onset conditions (62%) and carrier status (62%) should be offered to the parents of a child with a medical condition. About half thought that offered results should not be limited to those deemed clinically actionable. The vast majority (81%) thought that individual preferences should guide return. Genetics professionals’ perspectives on the return of ES/WGS results differed substantially from current recommendations, underscoring the need to establish clear purpose for recommendations on the return of incidental ES/WGS results as professional societies grapple with developing and updating recommendations.     

Eugenics: past, present, and the future.

During the past 20 years there has been a resurgence of interest in the history of the eugenics movements, particularly those of the United States and Germany. Unfortunately, most of these accounts have been published in nonmedical and nongenetic journals, so they are not readily available to geneticists or physicians. The authors of this article are concerned about the lack of information that geneticists, physicians, and students have concerning the origin and progress of these movements. This article provides a short history of the American and German eugenics programs and concludes with a review of their possible relations to our current practices. It is hoped that this will encourage institutions to include, in master's Ph.D., and M.D. programs in human genetics, lectures, seminars, and journal clubs on the topic of eugenics.     

Practice and Politics in Japanese Science: Hitoshi Kihara and the Formation of a Genetics Discipline

This paper examines the history of Japanese genetics in the 1920s to 1950s as seen through the work of Hitoshi Kihara, a prominent wheat geneticist as well as a leader in the development of the discipline in Japan. As Kihara’s career illustrates, Japanese genetics developed quickly in the early twentieth century through interactions with biologists outside Japan. The interactions, however, ceased due to the war in the late 1930s, and Japanese geneticists were mostly isolated from outside information until the late 1940s. During the isolation in wartime and under the postwar U.S. Occupation, Kihara adapted to political changes. During wartime, he developed a research institute focusing on applied biology of various crops, which conformed to the national need to address food scarcity. After the war, he led the campaign for the establishment of a national institute of genetics and negotiated with American Occupation officers. The Americans viewed this Japanese effort with suspicion because of the rising popularity of the controversial theory of the Russian agronomist, Trofim Lysenko, in Japan. The institute was approved in 1949 partly because Kihara was able to bridge the gap between the American and Japanese sides. With Kihara’s flexible and generous leadership, Japanese genetics steadily developed, survived the wartime, and recovered quickly in the postwar period. The article discusses Kihara’s interest in cytoplasmic inheritance and his synthetic approach to genetics in this political context, and draws attention to the relation between Kihara’s genetics and agricultural practice in Japan.     

Elimination and Eradication of Neglected Tropical Diseases with Mass Drug Administrations: A Survey of Experts

Background

Lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminths, and trachoma are the five most prevalent neglected tropical diseases in the world, and each is frequently treated with mass drug administrations. We performed a survey of neglected tropical diseases experts to elicit their opinions on the role of mass drug administrations for the elimination of these infections.

Methodology/Principal Findings

We sent an online survey to corresponding authors who had published an article about a neglected tropical disease from 2007 to 2011. Of 825 unique authors who were invited to complete the survey, 365 (44.2%) responded, including 234 (28.4%) who answered questions regarding one of the five most prevalent neglected tropical diseases. Respondents had varying opinions about the goals of programmatic activities for their chosen neglected tropical disease, with elimination or eradication identified as the most important goal by 87% of lymphatic filariasis respondents, 66% of onchocerciasis respondents, 55% of trachoma respondents, 24% of schistosomiasis respondents, and 21% of soil-transmitted helminth respondents. Mass drug administrations, other non-medication health measures, and education were generally thought to be more important for elimination than vector control, development of a new tool, or the presence of a secular trend. Drug resistance was thought to be a major limitation of mass drug administrations for all five neglected tropical diseases. Over half of respondents for lymphatic filariasis and trachoma thought that repeated mass drug administrations could eliminate infection within ten years of the initiation of mass treatments.

Conclusions/Significance

Respondents for lymphatic filariasis, onchocerciasis, and trachoma were more enthusiastic about the prospects of elimination and eradication than were respondents for schistosomiasis or soil-transmitted helminths. Mass drug administrations were generally believed to be among the most important factors for the success of elimination efforts for each of the five neglected tropical diseases, highlighting the opportunity for integrating drug distributions.     

The prevention and avoidance of genetic disease: summing up

The preceding papers have dealt with major advances in understanding and detecting the mutational basis of human disease. If these advances are to be of practical benefit, systems of effective, efficient and acceptable delivery of the technology to the relevant population groups will need to be planned. In these delivery systems, the key figure is likely to be the clinical geneticist, still a somewhat shadowy figure, difficult to define: a doctor among scientists, and a scientist among doctors. The clinical geneticist, among other duties, acts as a user-friendly interface between the public (including the medical profession) and the conceptually quite difficult fields of modern genetics. Few people in this age of transition to computer literacy will underestimate the importance of a user-friendly interface, without which even the most powerful analytical machines are underused, error prone, or even incomprehensible.     

Do physicians have an ethical obligation to care for patients with AIDS?

This paper responds to the question: Do physicians have an ethical obligation to care for patients with acquired immunodeficiency syndrome (AIDS)? First, the social and political milieu in which this question arises is sampled. Here physicians as well as other members of the community are found declaring an unwillingness to be exposed to people with AIDS. Next, laws, regulations, ethical codes and principles, and the history of the practice of medicine are examined, and the literature as it pertains to these areas is reviewed. The obligation to care for patients with AIDS, however, cannot be located in an orientation to morality defined in rules and codes and an appeal to legalistic fairness. By turning to the orientation to morality that emerges naturally from connection and is defined in caring, the physicians'' ethical obligation to care for patients with AIDS is found. Through an exploration of the writings of modern medical ethicists, it is clear that the purpose of the practice of medicine is healing, which can only be accomplished in relationship to the patient. It is in relationship to patients that the physician has the opportunity for self-realization. In fact, the physician is physician in relationship to patients and only to the extent that he or she acts virtuously by being morally responsible for and to those patients. Not to do so diminishes the physician''s ethical ideal, a vision of the physician as good physician, which has consequences for the physician''s capacity to care and for the practice of medicine.     

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)     

Genetic testing and primary care: a new ethic for a new setting

For several decades, clinical geneticists have espoused two key ethical principles, nondirectiveness and confidentiality. These principles made a great deal of sense in the highly personal and controversial setting of reproductive genetics. Now that clinical genetics has entered the primary care setting, clinicians are rethinking the strength of their commitment to these traditional norms and they are revamping their ethical priorities. Patients increasingly need advice about whether they should take genetic tests and whether and how they should respond to the test results. Patients also need to know about how this information will impact family members and whether other members of their family should be tested. Clinical geneticists may even consider breaking individual confidentiality in order to prevent harms to family members. Although clinical geneticists do not need to abandon nondirectiveness and confidentiality in this new setting, they may not strictly adhere to these principles in some circumstances in order to benefit patients and their families.