“It just becomes much more complicated”: Genetic counselors' views on genetics and prenatal testing

Many social scientists and commentators have expressed concerns about the acceleration of genetic medicine and testing in the last few decades. While there is a growing body of work on how patients and the lay public view the potential of genetic medicine, there remains relatively little social science research on the personal and professional views of master's-trained genetic counselors, a growing profession of clinicians who are often the key medical actors translating increasingly complex genetic information to patients. This study begins to fill in this lacuna by examining the perspectives of 26 genetic counselors in the USA on some of the central bioethical concerns raised by genetic testing, with a particular focus on prenatal testing. The study finds that while there is general enthusiasm for genetic medicine, and prenatal testing in particular, genetic counselors also have reflexive ambivalence, expressing both skepticism and concern about the usefulness and consequences of acquiring genetic information.     

The influence of experiential knowledge on prenatal screening and testing decisions

Minimal research focuses on the process of decision making in the context of prenatal screening and testing. This paper outlines an important contextual influence on these decisions. Specifically, we propose that experiential knowledge, particularly about pregnancy, screening, and disability, has a significant influence on prenatal screening and testing decisions. Drawing upon 38 semistructured interviews with women, this study explored how women made prenatal screening and testing decisions. Qualitative data analysis revealed two types of experiential knowledge, empathetic and embodied, which played a pivotal role in women's thinking about the value of prenatal tests and whether or not they accepted the offer of screening, testing, or both. We conclude that prenatal genetic counseling could benefit from an exploration of clients' experiential knowledge, both empathetic and embodied forms.     

Commercial Genetic Testing in Mainland China: Social, Financial and Ethical Issues

This paper provides an empirical account of commercial genetic predisposition testing in mainland China, based on interviews with company mangers, regulators and clients, and literature research during fieldwork in mainland China from July to September 2006. This research demonstrates that the commercialization of genetic testing and the lack of adequate regulation have created an environment in which dubious advertising practices and misleading and unprofessional medical advice are commonplace. The consequences of these ethically problematic activities for the users of predictive tests are, as yet, unknown. The paper concludes with a bioethical and social science perspective on the social and ethical issues raised by the dissemination and utilization of genetic testing in mainland China.     

PRENATAL GENETIC TESTING KITS SOLD AT YOUR LOCAL PHARMACY: PROMOTING AUTONOMY OR PROMOTING CONFUSION?

Research groups around the world are developing non‐invasive methods of prenatal genetic diagnosis, in which foetal cells are obtained by maternal blood test. Meanwhile, an increasing number of genetic tests are sold directly to the public. I extrapolate from these developments to consider a scenario in which PNGD self‐testing kits are sold directly to the public. Given the opposition to over‐the‐counter genetic tests and the continuing controversy surrounding PNGD, it is reasonable to expect objections to PNGD self‐testing kits. I focus on one potential objection, that PNGD self‐testing kits would undermine the autonomy of potential test subjects. More specifically, that ‘direct to the public’ PNGD would fail to ensure that consumers exercise autonomy in the following PNGD‐related choices:

• ? Should I use PNGD?
• ? Based on the results of the PNGD test, should I continue or terminate my pregnancy?

Under the current system, PNGD is provided by health care practitioners, who are required to counsel women both before and after the test. In contrast, ‘direct to the public’ PNGD would allow women to make their PNGD‐related decisions outside the context of the health care system. I compare these two decision‐making contexts, arguing that the health care system is not unequivocally better at promoting the autonomy of potential test subjects. Therefore the promotion of autonomy does not constitute a strong argument against such test kits. Other objections may be more persuasive, so I do not offer an overall assessment of the acceptability of ‘direct to the public’ PNGD.     

Social-science Perspectives on Bioethics: Predictive Genetic Testing (PGT) in Asia

In this essay, I indicate how social-science approaches can throw light on predictive genetic testing (PGT) in various societal contexts. In the first section, I discuss definitions of various forms of PGT, and point out their inherent ambiguity and inappropriateness when taken out of an ideal–typical context. In section two, I argue further that an ethics approach proceeding from the point of view of the abstract individual in a given society should be supplemented by an approach that regards bioethics as inherently ambiguous, contested, changeable and context-dependent. In the last section, I place these bioethical discussions of PGT in the context of Asian communities. Here, a critical view of what constitutes a community and culture proves necessary to understand the role of bioethical debates and the empirical manifestations of PGT in Asian societies. A discussion of the concepts of family and kinship in relation to PGT indicates that any bioethical analysis has to take into account that bioethical values are not just reflections of a cultural community, but embody both bioethical ideals and prevalent political rhetoric which is exhibited, propagated and manipulated by individuals and collectives for a variety of purposes. I end by summarising the contributions that social science could make to the understanding of the bioethics of PGT.     

Savior Siblings,Parenting and the Moral Valorization of Children

Philosophy has long been concerned with ‘moral status’. Discussions about the moral status of children, however, seem often to promote confusion rather than clarity. Using the creation of ‘savior siblings’ as an example, this paper provides a philosophical critique of the moral status of children and the moral relevance of parenting and the role that formative experience, regret and relational autonomy play in parental decisions. We suggest that parents make moral decisions that are guided by the moral significance they attach to children, to sick children and most importantly, to a specific sick child (theirs). This moral valorization is rarely made explicit and has generally been ignored by both philosophers and clinicians in previous critiques. Recognizing this, however, may transform not only the focus of bioethical discourse but also the policies and practices surrounding the care of children requiring bone marrow or cord blood transplantation by better understanding the values at stake behind parental decision making.     

What can we Learn from Patients’ Ethical Thinking about the right ‘not to know’ in Genomics? Lessons from Cancer Genetic Testing for Genetic Counselling

This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer (Lynch Syndrome). 50 were invited to participate (42 were tested; eight declined genetic testing). 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees’ experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as ‘common sense’; the idea of choice around the decision was negated and replaced by a moral imperative to be tested. Those who did not follow ‘common sense’ were judged to be imprudent. Family members who declined testing were discussed negatively by participants. The article addresses what is ethically problematic about how test decliners were discussed and whether these ethical concerns extend to others who are offered genetic testing. Discussions showed that genetic testing was viewed as both an autonomous choice and a responsibility. Yet the apparent conflict between the right to autonomy and the moral imperative of responsibility allowed participants to defend test decliners’ decisions by expressing a preference for or defending choice over responsibility. The ‘right not to know’ seemed an important moral construct to help ethically manage unpopular decisions made by close family who declined testing. In light of this research, the erosion of the ‘right not to know’ in the genomic age could have subtle yet profound consequences for family relationships.     

Closing the gaps in genetics legislation and policy: a report by the new york state task force on life and the law

The New York State Task Force on Life and the Law, a state bioethical policy commission, recently completed a project addressing the ethical, legal, and social concerns surrounding the predictive uses of genetic testing. Its report, Genetic Testing and Screening in the Age of Genomic Medicine, makes legislative, public policy, and practice recommendations on a host of issues. As part of this project, the Task Force reviewed the current policy and legislative landscapes related to confidentiality protections for genetic information and the use of genetic information by insurers. It also assessed requirements for informed consent to clinical genetic testing and for the use of clinical samples for genetics research. The Task Force considered gaps and unintended consequences of relevant genetic testing legislation and assessed its flexibility to address new uses of genetic testing, such as pharmacogenetic testing, and new ways of offering tests, such as multiplex testing panels. The Task Force also considered the relevance of the pleiotropic characteristic of genes for issues of informed consent to genetic testing and the confidentiality of genetic information. The Task Force's recommendations, presented here, seek to promote the appropriate uses of clinical genetic testing and research while preventing potential harms.     

Ethical considerations in prenatal diagnosis.

Prenatal diagnostic testing raises a number of important ethical issues, some related to diagnostic testing in general and others related to the special circumstances of pregnancy. These issues are most effectively addressed in the context of a broader understanding of the goals of prenatal diagnosis. Our dual obligations--to the pregnant woman and to the fetus--have an important influence on the goals of testing. Testing seldom leads to treatment beneficial to the fetus, but more often can be beneficial to the pregnant woman, particularly if the information provided enhances her ability to make sound decisions about reproductive matters. The process of prenatal diagnostic testing can, however, limit a woman''s sense of control over the decisions made about her pregnancy. It can also provide an opportunity for third parties to become involved in what are usually considered private matters. It is therefore important that the process of testing include adequate counseling and follow-up and that the patient''s confidence be respected. As prenatal diagnostic technology expands, both in terms of patients to be tested and diagnoses to be sought, society will face difficult questions concerning access to testing and the justification for its use.     

Lay perceptions of genetic testing in Germany and Israel: the interplay of national culture and individual experience

Germany and Israel represent opposite regulatory approaches and bioethical outlooks regarding genetic testing. This study examines lay attitudes (including attitudes of people affected by genetic diseases) in both countries towards genetic testing of adults, focusing on the differences between cultural and personal argumentations, as well as between affected and non-affected perspectives. With regard to three major emerging themes – medical technology/technocratic medicine; economic aspects of healthcare; and personal decision-making – a national contrast was apparent on the cultural level of argumentation, but not in the personal context of decision-making or in the concerns of people affected by genetic diseases. We conclude by discussing the interplay of national culture and individual experience in constructing arguments about the harms and benefits of genetic testing, and the implications for the study of cross-cultural bioethics in the context of “genetic responsibility”.     

Do adolescents' bioethical decisions differ from those of experts?

If our students are to become well-informed decision makers then they need to be aware of the practical applications of current developments in biotechnology, and appreciate the social and bioethical implications of this relatively new and controversial science. In this study, Year 10 (14 – 15 year old) science students in two schools were taught biotechnology courses that introduced them to bioethics. At the conclusion of the course, students completed a survey in which they made a decision about three bioethical dilemmas, and gave reasons to support their decision. The students' responses and reasons were compared with those of three experts. Although there was variation amongst students, the results of the survey suggested that the majority of students tended to resolve and justify their decisions in a way that was naive, idealistic, and rights based. Compared to the experts, the students seemed to give undue emphasis to the bioethical principle of autonomy. In addition, the reasons supplied by many of the students to support their decisions suggested that they did not consider long term consequences. These findings have ramifications for teachers who wish to include bioethical dilemmas in their teaching.     

Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results

To assess how participants receiving abnormal prenatal genetic testing results seek information and understand the implications of results, 27 US female patients and 12 of their male partners receiving positive prenatal microarray testing results completed semi-structured phone interviews. These interviews documented participant experiences with chromosomal microarray testing, understanding of and emotional response to receiving results, factors affecting decision-making about testing and pregnancy termination, and psychosocial needs throughout the testing process. Interview data were analyzed using a modified grounded theory approach. In the absence of certainty about the implications of results, understanding of results is shaped by biomedical expert knowledge (BEK) and cultural expert knowledge (CEK). When there is a dearth of BEK, as in the case of receiving results of uncertain significance, participants rely on CEK, including religious/spiritual beliefs, “gut instinct,” embodied knowledge, and social network informants. CEK is a powerful platform to guide understanding of prenatal genetic testing results. The utility of culturally situated expert knowledge during testing uncertainty emphasizes that decision-making occurs within discourses beyond the biomedical domain. These forms of “knowing” may be integrated into clinical consideration of efficacious patient assessment and counseling.     

Focus: Allergic Diseases and Type II Immunity: Allergies and Adaptations: A Perspective on the Need for Culturally Responsive Care to Medically Indicated Dietary Restrictions

In medicine, we tend to think of food as being equivalent to nutrition, and food allergies are understood primarily as a biomedical process. In this piece, I explore how my experience with food allergies intersects with my cultural identity as a second-generation Indian-American. I also offer insights from my experiences in medical training and practice and reflect on the responsibility of health providers to understand the social and cultural context of food allergies.     

A burden from birth? Non‐invasive prenatal testing and the stigmatization of people with disabilities

The notion of being a burden to others is mostly discussed in the context of care‐intensive diseases or end‐of‐life decisions. But the notion is also crucial in decision‐making at the beginning of life, namely regarding prenatal testing. Ever more sophisticated testing methods, especially non‐invasive prenatal testing (NIPT), allow the detection of genetic traits in the unborn child that may cause disabilities. A positive result often influences the decision of the pregnant women towards a termination of the pregnancy. Thus, critics claim that these testing methods send a negative message to people with disabilities. At the core of this is what we call the burden assumption. This assumption claims that children with disabilities are necessarily a burden to others, especially to their parents and other family members. In this paper, we discuss what being a burden to others means in this context and how such an attitude can be avoided without restraining reproductive autonomy. A closer examination shows that the burden assumption is mostly based on misinformation and a false model of disability. Empirical studies as well as narrative evidence from parents who raise a child with disabilities show that the burden assumption is wrong. Raising a child with disabilities does not necessarily mean a decrease in the quality of life. We show how the burden assumption can be challenged through an advanced genetic counselling that combines empirical evidence with narratives from a first‐person perspective.     

Attitudes toward genetic testing for cancer risk after genetic counseling and decision support: a qualitative comparison between hereditary cancer types

This study aimed to qualitatively assess individuals' attitudes toward genetic testing for cancer risk after genetic counseling and decision support. As part of a larger study, 78 women considering genetic testing for hereditary breast/ovarian cancer (HBOC) risk and 22 individuals considering genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) completed an open-ended table of their perceived pros and cons of genetic testing. The most frequently reported pros were "to help manage my risk of developing cancer," "to help my family," and "to know my cancer risk." With regards to risk management, the HBOC group perceived genetic testing as most helpful in informing their general risk management practices, while the HN-PCC group focused on the potential to clarify their need for bowel cancer screening, suggesting that patients' perceptions of the benefits of genetic testing may differ across cancer syndromes. Individuals in both groups expressed concern about the potential psychological impact of genetic testing. We also found that some affected individuals may not fully comprehend the meaning of their potential test results. Eliciting patients' perceived pros and cons during genetic counseling is likely to be a valuable tool for improving patient care. This data also provides an improved evidence base for the development of patient education tools.     

Natural genetic variation in social environment choice: context-dependent gene-environment correlation in Drosophila melanogaster

Gene-environment correlation (rGE) occurs when an individual's genotype determines its choice of environment, generating a correlation between environment and genotype frequency. In particular, social rGE, caused by genetic variation in social environment choice, can critically determine both individual development and the course of social selection. Despite its foundational role in social evolution and developmental psychology theory, natural genetic variation in social environment choice has scarcely been examined empirically. Drosophila melanogaster provides an ideal system for investigating social rGE. Flies live socially in nature and have many opportunities to make social decisions; and natural, heterozygous genotypes may be replicated, enabling comparisons between genotypes across environments. Using this approach, I show that all aspects of social environment choice vary among natural genotypes, demonstrating pervasive social rGE. Surprisingly, genetic variation in group-size preference was density dependent, indicating that the behavioral and evolutionary consequences of rGE may depend on the context in which social decisions are made. These results provide the first detailed investigation of social rGE, and illustrate that that genetic variation may influence organismal performance by specifying the environment in which traits are expressed.     

Routine prenatal screening for HIV in a low-prevalence setting

BACKGROUND: The objectives of this study were to assess the effect of British Columbia''s June 1994 guidelines for prenatal HIV screening on the rate of maternal-fetal HIV transmission and to estimate the cost-effectiveness of such screening. METHODS: The authors conducted a retrospective review of pregnancy and delivery statistics, HIV screening practices, laboratory testing volume, prenatal and labour management decisions of HIV-positive women, maternal-fetal transmission rates and associated costs. RESULTS: Over 1995 and 1996, 135,681 women were pregnant and 92,645 carried to term. The rate of HIV testing increased from 55% to 76% of pregnancies on chart review at one hospital between November 1995 and November 1996. On the basis of seroprevalence studies, an estimated 50.2 pregnancies and 34.3 (95% confidence interval 17.6 to 51.0) live births to HIV-positive women were expected. Of 42 identified mother-infant pairs with an estimated date of delivery during 1995 or 1996, 25 were known only through screening. Of these 25 cases, there were 10 terminations, 1 spontaneous abortion and 14 cases in which the woman elected to carry the pregnancy to term with antiretroviral therapy. There was one stillbirth. One instance of maternal-fetal HIV transmission occurred among the 13 live births. The net savings attributable to prevented infections among babies carried to term were $165,586, with a saving per prevented case of $75,266. INTERPRETATION: A routine offer of pregnancy screening for HIV in a low-prevalence setting reduces the rate of maternal-fetal HIV transmission and may rival other widely accepted health care expenditures in terms of cost-effectiveness.     

Localized past, globalized future: towards an effective bioethical framework using examples from population genetics and medical tourism

This paper suggests that many of the pressing dilemmas of bioethics are global and structural in nature. Accordingly, global ethical frameworks are required which recognize the ethically significant factors of all global actors. To this end, ethical frameworks must recognize the rights and interests of both individuals and groups (and the interrelation of these). The paper suggests that the current dominant bioethical framework is inadequate to this task as it is over-individualist and therefore unable to give significant weight to the ethical demands of groups (and by extension communal and public goods). It will explore this theme by considering the inadequacy of informed consent (the 'global standard' of bioethics) to address two pressing global bioethical issues: medical tourism and population genetics. Using these examples it will show why consent is inadequate to address all the significant features of these ethical dilemmas. Four key failures will be explored, namely, ? That the rights and interests of those related (and therefore affected) are neglected; ? That consent fails to take account of the context and commitments of individuals which may constitute inducement and coercion; ? That consent alone does not have the ethical weight to negate exploitation or make an unjust action just ('the fallacy of sufficiency'); ? That consent is a single one-off act which is inappropriate for the types of decision being made. It will conclude by suggesting that more appropriate models are emerging, particularly in population genetics, which can supplement consent.     

HIV+/AIDS related bioethical issues in Japan

Annual and cumulative incidences of HIV+ and AIDS in patients reported by the AIDS Surveillance Committee of the Ministry of Health and Welfare are cited to illustrate some characteristics in Japan: nearly 59% of either HIV+ or AIDS patients were infected through injection of blood products or by blood transfusion. A number of plaintiffs have sued the Japanese government and pharmaceutical companies since 1989, but no judicial decisions have yet been made. The incidence of HIV decreases for each of the following routes of infection: the second highest route of transmission being heterosexual, followed by bisexual and unconfirmed or unknown cases, and less frequently homosexual, drug use and lastly via vertical transmission. The most serious bioethical problems with HIV+ and AIDS patients in Japan is the social segregation of these patients. There are many emotional fears among the general public and medical personnel about AIDS because of their inadequate scientific knowledge of this disease. The Japan Hospital Association is doing The Stop AIDS Campaign and made several surveys. Japan has become increasingly aware of the importance of AIDS education and a great deal of effort is being made to enhance bioethical consideration.     

HIV +/AIDS RELATED BIOETHICAL ISSUES IN JAPAN

Annual and cumulative incidences of HIV + and AIDS in patients reported by the AIDS Surveillance Committee of the Ministry of Health and Welfare are cited to illustrate some characteristics in Japan: nearly 59% of either HIV + or AIDS patients were infected through injection of blood products or by blood transfusion. A number of plaintiffs have sued the Japanese government and pharmaceutical companies since 1989, but no judicial decisions have yet been made. The incidence of HIV decreases for each of the following routes of infection: the second highest route of transmission being heterosexual, followed by bisexual and unconfirmed or unknown cases, and less frequently homosexual, drug use and lastly via vertical transmission. The most serious bioethical problems with HIV + and AIDs patients in Japan is the social segregation of these patients. There are many emotional fears among the general public and medical personnel about AIDS because of their inadequate scientific knowledge of this disease. The Japan Hospital Association is doing The Stop AIDS Campaign and made several surveys. Japan has become increasingly aware of the importance of AIDS education and a great deal of effort is being made to enhance bioethical considerations.