Scientists' and science writers' experiences reporting genetic discoveries: toward an ethic of trust in science journalism.

PURPOSE: To describe the relationship between scientists and science writers and their experiences with media reporting of genetic discoveries. METHODS: This study included individual interviews with 15 scientists who specialize in genetics and 22 science writers who have covered their stories and a qualitative analysis of the data. RESULTS: Scientists and science writers place an equally high priority on accuracy of media reports. They agree on what makes genetics stories newsworthy and the particular challenges in reporting genetic discoveries (i.e., poor public understanding of genetics, the association of genetics with eugenics, and the lack of immediately apparent applications of genetic discoveries to human health). The relationship between scientists and bona fide science writers is largely positive. Scientists tend to trust, respect, and be receptive to science writers. Both scientists and science writers acknowledge that trust is an essential component of a good interview. Science writers report a fair degree of autonomy with respect to the relationship they have with their editors. CONCLUSION: To the degree that trust facilitates the access that science writers have to scientists, as well as higher quality interviews between scientists and science writers, trust might also contribute to higher quality media reporting. Therefore, scientists and science writers have an ethical obligation to foster trusting relationships with each other. Future research should systematically explore ways to cultivate such relationships and assess their impact on the quality of science journalism.     

Attitudes of publics who are unwilling to donate DNA data for research

With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of interest. This can only be successful if DNA and medical data are donated by large numbers of people to ‘research’, including clinical, non-profit and for-profit research initiatives, in order to be accessed by scientists and clinicians worldwide.The objective of the ‘Your DNA, Your Say’ global survey is to explore public attitudes, values and opinions towards willingness to donate and concerns regarding the donation of one's personal data for use by others. Using a representative sample of 8967 English-speaking publics from the UK, the USA, Canada and Australia, we explore the characteristics of people who are unwilling (n = 1426) to donate their DNA and medical information, together with an exploration of their reasons. Understanding this perspective is important for making sense of the interaction between science and society. It also helps to focus engagement initiatives on the issues of concern to some publics.     

Psychiatric genetics researchers' views on offering return of results to individual participants

In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome‐wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision‐making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR.     

Consulting the community: public expectations and attitudes about genetics research

Genomic discoveries and technologies promise numerous opportunities for improving health. Key to these potential health improvements, however, are health-care consumers'' understanding and acceptance of these new developments. We identified community groups and invited them to a public information-consultation session in order to explore public awareness, perception and expectations about genetics and genomics research. One hundred and four members of seven community groups in Newfoundland, Canada took part in the community sessions. Content analysis of participant comments revealed they were largely hopeful about genetics research in its capacity to improve health; however, they did not accept such research uncritically. Complex issues arose during the community consultations, including the place of genetics in primary care, the value of genetics for personal health, and concerns about access to and uses of genetic information. Participants unequivocally endorsed the value of public engagement with these issues. The rapid pace of discoveries in genomics research offers exciting opportunities to improve population health. However, public support will be crucial to realize health improvements. Our findings suggest that regular, transparent dialog between researchers and the public could allow a greater understanding of the research process, as well as assist in the design of efficient and effective genetic health services, informed by the public that will use them.     

International Society of Psychiatric Genetics Ethics Committee: Issues facing us

Psychiatric genetics research is improving our understanding of the biological underpinnings of neurodiversity and mental illness. Using psychiatric genetics in ways that maximize benefits and minimize harms to individuals and society depends largely on how the ethical, legal, and social implications (ELSI) of psychiatric genetics are managed. The International Society of Psychiatric Genetics (ISPG) is the largest international organization dedicated to psychiatric genetics. Given its history, membership, and international reach, we believe the ISPG is well‐equipped to contribute to the resolution of these ELSI challenges. As such, we recently created the ISPG Ethics Committee, an interdisciplinary group comprised of psychiatric genetics researchers, clinical geneticists, genetic counselors, mental health professionals, patients, patient advocates, bioethicists, and lawyers. This article highlights key ELSI challenges identified by the ISPG Ethics Committee to be of paramount importance for the ethical translation of psychiatric research into society in three contexts: research settings, clinical settings, and legal proceedings. For each of these arenas, we identify and discuss pressing psychiatric genetics ELSI dilemmas that merit attention and require action. The goal is to increase awareness about psychiatric genetics ELSI issues and encourage dialogue and action among stakeholders.     

Procedure to protect confidentiality of familial data in community genetics and genomic research

The collection of familial data is an essential step for community genetics programs or genetic research. Ethical issues concerning privacy and confidentiality present a major challenge in such programs. In order to keep familial data confidential, we have developed a family-based numerical coding procedure which allows the use of confidential data and the determination of familial relationships without risk of disclosure. This procedure is composed of two parts: the physical separation of identifying information and individual data; and the use of a code containing all the information required to build family trees. This procedure has been used in Eastern Quebec since 1995, mainly for screening, genetic counseling, research on familial dyslipidemias, public health intervention, and research projects on the genetics of complex traits, such as arterial hypertension and coronary artery disease.     

Getting the word out: Teaching middle-school children about cardiovascular disease

Cardiovascular disease (CVD) has roots in childhood. Because CVD begins early, a clear strong case for early education focused on CVD primary prevention exists. Scientists are not traditionally involved in disseminating health knowledge into public education. Similarly, public school teachers typically do not have access to biomedical research that may increase their students' health science literacy. One way to bridge the “cultural” gap between researchers and school teachers is to form science–education partnerships. For such partnerships to be successful, teams of scientists and teachers must “translate” biomedical research into plain language appropriate for students. In this work, we briefly review the need for improving health literacy, especially through school-based programs, and describe work with one model scientist–teacher partnership, the Teacher Enrichment Initiatives. Examples of cardiovascular research “translated” into plain language lessons for middle-school students are provided and practical considerations for researchers pursuing a science–education partnership are delineated.     

Genetic disease in the 1960s: a structural revolution

From about 1955 to about 1975, an explosion of new institutions, disciplines, databases, interventions, practices, techniques, and ideas turned technically driven human genetics from a medical backwater to an exotic and appealing medical research frontier. In the early 1960s, health care professionals were attracted to the new insights of cytogenetics, including the chromosomal explanation of Down syndrome and of other congenital defects and abnormalities of sexual development. The discovery of a connection between myeloid leukemia and chromosomal abnormalities in leukemic cells made human cytogenetics suddenly relevant to cancer research and diagnosis. Successful dietary treatment of phenylketonuria brought genetic disease into the domain of public health and provoked legislative programs with sweeping long-term consequences. Meanwhile, those promoting the importance of genetic disease to medical education began to elaborate the idea that disease was literally becoming more genetic, as a consequence of techno-historical change. In this article, I present an overview of these remarkable events and a framework for understanding how and why they occurred. I emphasize the important roles of family members, religious isolates, legislators, pediatricians, and others who were not trained in genetic science, but who became advocates, at many levels, of genetic medicine. And I suggest that the idea, so important to the Human Genome Project, that "all disease is genetic disease" was structurally realized and institutionalized long before technologies for mapping the genome were available.     

Clinical genetics issues encountered by family physicians.

PURPOSE: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. METHODS: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions. RESULTS: The response rate was 38% (n = 190). Respondents were similar to non-respondents except that more were women. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis. CONCLUSION: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians.     

“Am I my genes?”: Questions of identity among individuals confronting genetic disease

PurposeTo explore many questions raised by genetics concerning personal identities that have not been fully investigated.MethodsWe interviewed in depth, for 2 hours each, 64 individuals who had or were at risk for Huntington disease, breast cancer, or alpha-1 antitrypsin deficiency.ResultsThese individuals struggled with several difficult issues of identity. They drew on a range of genotypes and phenotypes (e.g., family history alone; mutations, but no symptoms; or symptoms). They often felt that their predicament did not fit preexisting categories well (e.g., “sick,” “healthy,” “disabled,” “predisposed”), due in part to uncertainties involved (e.g., unclear prognoses, since mutations may not produce symptoms). Hence, individuals varied in how much genetics affected their identity, in what ways, and how negatively. Factors emerged related to disease, family history, and other sources of identity. These identities may, in turn, shape disclosure, coping, and other health decisions.ConclusionsIndividuals struggle to construct a genetic identity. They view genetic information in highly subjective ways, varying widely in what aspects of genetic information they focus on and how. These data have important implications for education of providers (to assist patients with these issues), patients, and family members; and for research, to understand these issues more fully.     

Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues

Background

As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants simultaneously for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.

Discussion

This paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'

Summary

Consideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility.     

Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics

Technology development in human genetics is fraught with uncertainty, controversy and unresolved moral issues, and industry scientists are sometimes accused of neglecting the implications of their work. The present study was carried out to elicit industry scientists' reflections on the relationship between commercial, scientific and ethical dimensions of present day genetics and the resources needed for robust governance of new technologies. Interviewing scientists of the company deCODE genetics in Iceland, we found that in spite of optimism, the informants revealed ambiguity and uncertainty concerning the use of human genetic technologies for the prevention of common diseases. They concurred that uncritical marketing of scientific success might cause exaggerated public expectations of health benefits from genetics, with the risk of backfiring and causing resistance to genetics in the population. On the other hand, the scientists did not address dilemmas arising from the commercial nature of their own employer. Although the scientists tended to describe public fear as irrational, they identified issues where scepticism might be well founded and explored examples where they, despite expert knowledge, held ambiguous or tentative personal views on the use of predictive genetic technologies. The rationality of science was not seen as sufficient to ensure beneficial governance of new technologies. The reflexivity and suspension of judgement demonstrated in the interviews exemplify productive features of moral deliberation in complex situations. Scientists should take part in dialogues concerning the governance of genetic technologies, acknowledge any vested interests, and use their expertise to highlight, not conceal the technical and moral complexity involved.     

Navigating a world of genes: A conceptual analysis of gene fetishism,geneticization, genetic exceptionalism and genetic essentialism

Genetics, as a discipline, is an essential part of the modern world. However, analyzing the interaction between genetics and society can be complex. Therefore, terminology has arisen from diverse fields to better understand genetics and its relation to other domains. Nevertheless, the diverse origins of many of these terms, as well as a lack of clarity in their definitions, have led to differences in use. This paper focuses on four such terms: genetic fetishism, geneticization, genetic essentialism, and genetic exceptionalism. By clarifying what each term means, the fields that utilize them will be helped. Furthermore, these terms can have specific value to bioethics in analyzing ethical issues that arise from genetics and the interaction with the socio-cultural world. While these terms may not always be applicable, a more careful analysis of their meaning can cultivate a more scientific and rigorous analysis of the ways genetics impacts and is understood by humanity.     

Mexican geneticists’ views of ethical issues in genetics testing and screening. Are eugenic principles involved?

Herein we discuss Mexican geneticists' views of ethical issues in genetic testing and screening, analyzing whether eugenic principles are involved in this activity. The information was obtained from a comprehensive survey on genetics, ethics, and society organized by Wertz and Fletcher in 1993, in which 37 nations participated. The responses to 21 questions from 64 out of 89 (72%) geneticists invited to participate are analyzed in this paper. The questions were practically the same as those answered recently by a group of Chinese geneticists (Mao X. Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China. Am J Hum Genet 1998: 63: 688-695), who work in a country where the furtherance of eugenic principles is considered to be the goal of human genetics. We concluded that although there are many similarities in the answers from both countries, this is not indicative of Mexican geneticists pursuing eugenic goals because: a) there is no coercion involved; and b) there is no intention of improving the gene pool.     

Research participants' attitudes towards the confidentiality of genomic sequence information

Respecting the confidentiality of personal data contributed to genomic studies is an important issue for researchers using genomic sequencing in humans. Although most studies adhere to rules of confidentiality, there are different conceptions of confidentiality and why it is important. The resulting ambiguity obscures what is at stake when making tradeoffs between data protection and other goals in research, such as transparency, reciprocity, and public benefit. Few studies have examined why participants in genomic research care about how their information is used. To explore this topic, we conducted semi-structured phone interviews with 30 participants in two National Institutes of Health research protocols using genomic sequencing. Our results show that research participants value confidentiality as a form of control over information about themselves. To the individuals we interviewed, control was valued as a safeguard against discrimination in a climate of uncertainty about future uses of individual genome data. Attitudes towards data sharing were related to the goals of research and details of participants'' personal lives. Expectations of confidentiality, trust in researchers, and a desire to advance science were common reasons for willingness to share identifiable data with investigators. Nearly, all participants were comfortable sharing personal data that had been de-identified. These findings suggest that views about confidentiality and data sharing are highly nuanced and are related to the perceived benefits of joining a research study.     

Preempting genetic discrimination and assaults on privacy: report of a symposium

At a symposium in June, 2002, biomedical researchers, clinicians, legal experts, policymakers, and representatives of the insurance industry and the advocacy community gathered to address issues of genetic privacy and discrimination; and to identify research, legal, and policy gaps needing to be filled. They concluded that over the next decade, as more genetic information becomes available and the public becomes more aware of individual risks, concerns about privacy and discrimination will become increasingly important. Documented cases of genetic discrimination are rare and largely anecdotal, yet individuals with genetic conditions harbor significant fears about discrimination. Current laws enacted to protect individuals from workplace and insurance discrimination offer some measure of protection, but leave many unfilled gaps. Moreover, the use of genetic information in potentially discriminatory ways is not limited to employment and insurability. Existing laws do little to protect people seeking life, disability, or long-term care insurance. And the courts have used genetic information in a wide variety of cases including paternity, criminal, and tort (personal injury) cases. Genetic information that might jeopardize an individual's right to privacy may also be obtained in the course of research studies, including through the collection of DNA and tissue samples. The insurance industry, State and Federal agencies, and the advocacy community are all making efforts to address some of these gaps through legislation and education of clinicians, the public, and policy makers.     

Developing an interdisciplinary, community-based education program for health professions students: the Rochester experience.

To successfully meet the nation's changing health needs, future health professionals must learn skills in applied health promotion and disease prevention. To achieve these goals, the Center for Rochester's Health (the Center), a collaboration of the Monroe County Department of Public Health and the University of Rochester School of Medicine and Dentistry and School of Nursing, all located in Rochester, New York, developed an innovative education program that gives interdisciplinary teams of students opportunities to partner with community agencies engaged in research-oriented health improvement initiatives. The Center started this course in 1998, under the auspices of a national initiative supported by the Health Resources and Services Administration and the Institute for Healthcare Improvement. The authors discuss the challenges related to the implementation and institutionalization of this interdisciplinary population-based education program. They describe their experiences over a seven-year period, from 1998 to 2005, including the various factors that enabled them to make necessary changes in the program activities and the ways in which the Center was able to bring departments together to consider new course directions for engaging students in the community health improvement process. They discuss the different stages of program development, including the early years of program planning and later curriculum changes that involved the development of an online population health curriculum. The authors conclude that by understanding changes in the education goals of various health professions schools and by adapting education programs to meet the needs of students from these schools, program planners will have more opportunities to sustain community-based education programs.     

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics, health care, researchers and the society in general. Genetic causes have a considerable involvement in infertility. Genetic conditions may also be transmitted to the offspring and hence create transgenerational infertility or other serious health problems. Several studies also suggest a slightly elevated risk of birth defects in children born following ART. Preimplantation genetic diagnosis (PGD) has become widely practiced throughout the world for various medical indications, but its limits are being debated. The attitudes towards ART and PGD vary substantially within Europe. The purpose of the present paper was to outline a framework for development of guidelines to be issued jointly by European Society of Human Genetics and European Society of Human Reproduction and Embryology for the interface between genetics and ART. Technical, social, ethical and legal issues of ART and genetics will be reviewed.     

Carrying out the Medicine/Public Health Initiative: the roles of preventive medicine and community-responsive care.

Leaders in medicine and public health, recognizing the inherent interdependency of these fields, established the Medicine/Public Health Initiative in the mid-1990s as "an evolving forum in which representatives of both sectors can explore their mutual interests in improving health and [can] define collaborative mechanisms to achieve that goal." The Initiative's participants developed six goals that they and others in medicine and public health across the nation should implement: engage the community; change the education process; create joint research efforts by clinical, public health, and preventive medicine investigators; develop a shared view of illness between medicine and public health; work together to provide health care; and work jointly to develop health care assessment measures. The authors describe the six goals in depth and explain the important combined roles of clinically-oriented preventive medicine and community-oriented preventive medicine--as practiced in a model of health care delivery called community-oriented primary care (COPC)--in implementing the Initiative's goals. They then report recent efforts, including two in Boston and Dallas, to merge medicine and public health, and state that academic health centers, which are in the process of reshaping themselves, can help themselves as well as the public by embracing their key role in the effort to integrate medicine and public health. In particular, they can expand and strengthen existing training programs in preventive medicine and COPC or add these programs to their curricula.     

Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs.

PURPOSE: Permanent hearing loss at birth or in early childhood is common and has many genetic and environmental causes. Advances in the identification and characterization of genetic forms, combined with the early identification of children through the implementation of state-based Early Hearing Detection and Intervention programs suggests the need for education about the causes of hearing loss among professionals who work in these programs. METHODS: An online survey was directed to state program coordinators of Early Hearing Detection and Intervention programs to identify gaps in knowledge about the genetic causes of hearing loss and to assess interest in continuing education on this topic. RESULTS: The study identified clear gaps in respondents' knowledge about genetic causes of hearing loss. Twenty percent of respondents indicated that they had received no training in genetics. When asked to rate their knowledge about the genetics of hearing loss, most rated their knowledge as "not adequate." Respondents expressed interest in genetics training through several modalities, including a distance learning format. CONCLUSION: This study provides documentation of the need for education of health care professionals involved in the early identification of hearing loss. Suggestions for suitable educational formats based on respondent needs and interests are provided.