Ethical issues in the diagnostic genetic testing process

The diagnostic genetic testing process has certain unique ethical features and deserves special consideration. The purpose of this study was to determine through empirical research, using focussed interview, what ethical issues are involved in the diagnostic genetic testing process. This article describes views and perceptions of adult patients, parents of child patients and various personnel groups (n = 30). The ethical issues were analysed classified into three main categories: a) personnel characteristics, including personality, professional skills, morals and values; b) realization of ethical principles in the examination process, with subcategories of knowledge, autonomy, data protection and equity; and c) consequences of genetic testing, including patients' control over their own lives, manifestation of heterogeneity and outlook on the world. Problematic ethical issues in all three main categories were described in a more many‐sided way by parents and personnel than by adult patients. In the future, attention should be paid to the content areas highlighted by the study, in both clinical practice and further studies.     

Presymptomatic testing for late-onset genetic disorders: lessons from Huntington's disease.

Huntington's disease is an inherited, neurodegenerative disorder, usually of adult onset. Since the identification of linked markers, more than 1000 presymptomatic tests have been performed worldwide and multiple ethical issues have been encountered in relation to informed consent, testing of children, exclusion testing during pregnancy, and confidentiality. Further ethical problems are anticipated after identification of the causal mutation (or mutations). As Huntington's disease is a model for other disorders of adult onset for which testing is becoming possible, the successful resolution of these ethical issues is of great importance. A failure to do so might discredit genetic testing as a whole.     

Ethical issues in human genome research.

In addition to provocative questions about science policy, research on the human genome will generate important ethical questions in at least three categories. First, the possibility of greatly increased genetic information about individuals and populations will require choices to be made about what that information should be and about who should control the generation and dissemination of genetic information. Presymptomatic testing, carrier screening, workplace genetic screening, and testing by insurance companies pose significant ethical problems. Second, the burgeoning ability to manipulate human genotypes and phenotypes raises a number of important ethical questions. Third, increasing knowledge about genetic contributions to ethically and politically significant traits and behaviors will challenge our self-understanding and social institutions.     

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.     

Psychiatrists' attitudes regarding genetic testing and patient safeguards: a preliminary study

AIMS: A probability sample of U.S. psychiatrists (n = 93) was invited to complete a mail survey regarding the likely impact of genetic testing on psychiatry; the clinical utility of pharmacogenetic, diagnostic, and susceptibility genetic testing; and 14 proposed ethical and legal safeguards for clinical genetic testing. RESULTS: Forty-five psychiatrists participated in the survey (response rate = 48%). The majority (80% and 60%, respectively) believed that genetic testing would benefit many psychiatric patients and would dramatically change the way psychiatry is practiced. Many psychiatrists (73-85%) also stated that pharmacogenetic, diagnostic, and susceptibility tests for common psychiatric disorders would be somewhat useful or extremely useful in the clinical setting. Nearly all (98-100%) believed that psychiatrists should obtain informed consent before genetic testing, should keep test results confidential, should provide pre- and posttest counseling, and should demonstrate competence in interpreting test results. Nearly all (96-100%) supported laws and regulations to prevent discrimination based on genetic test results and to protect consumers from misleading advertisements for testing. Ninety-one percent endorsed restrictions on the sale of genetic tests directly to consumers. CONCLUSIONS: This probability sample of U.S. psychiatrists expressed a strongly positive view of genetic testing in psychiatry, while voicing nearly unanimous support for seven ethical and legal safeguards.     

Mapping out structural features in clinical care calling for ethical sensitivity: a theoretical approach to promote ethical competence in healthcare personnel and clinical ethical support services (CESS)

Clinical ethical support services (CESS) represent a multifaceted field of aims, consultancy models, and methodologies. Nevertheless, the overall aim of CESS can be summed up as contributing to healthcare of high ethical standards by improving ethically competent decision-making in clinical healthcare. In order to support clinical care adequately, CESS must pay systematic attention to all real-life ethical issues, including those which do not fall within the 'favourite' ethical issues of the day. In this paper we attempt to capture a comprehensive overview of categories of ethical tensions in clinical care. We present an analytical exposition of ethical structural features in judgement-based clinical care predicated on the assumption of the moral equality of human beings and the assessment of where healthcare contexts pose a challenge to achieving moral equality. The account and the emerging overview is worked out so that it can be easily contextualized with regards to national healthcare systems and specific branches of healthcare, as well as local healthcare institutions. By considering how the account and the overview can be applied to i) improve the ethical competence of healthcare personnel and consultants by broadening their sensitivity to ethical tensions, ii) identify neglected areas for ethical research, and iii) clarify the ethical responsibility of healthcare institutions' leadership, as well as specifying required institutionalized administration, we conclude that the proposed account should be considered useful for CESS.     

Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening

Newborn screening (NBS) involves the collection of blood from the heel of a newborn baby and testing it for a list of rare and inheritable disorders. New biochemical screening technologies led to expansions of NBS programs in the first decade of the 21st century. It is expected that they will in time be replaced by genetic sequencing technologies. These developments have raised a lot of ethical debate. We reviewed the ethical literature on NBS, analyzed the issues and values that emerged, and paid particular interest to the type of impacts authors think NBS should have on the lives of children and their families. Our review shows that most authors keep their ethical reflection confined to policy decisions, about for instance (a) the purpose of the program, and (b) its voluntary or mandatory nature. While some authors show appreciation of how NBS information empowers parents to care for their (diseased) children, most authors consider these aspects to be ‘private’ and leave their evaluation up to parents themselves. While this division of moral labor fits with the liberal conviction to leave individuals free to decide how they want to live their private lives, it also silences the ethical debate about these issues. Given the present and future capacity of NBS to offer an abundance of health‐related information, we argue that there is good reason to develop a more substantive perspective to whether and how NBS can contribute to parents’ good care for children.     

'You don't make genetic test decisions from one day to the next'--using time to preserve moral space

The part played by time in ethics is often taken for granted, yet time is essential to moral decision making. This paper looks at time in ethical decisions about having a genetic test. We use a patient-centred approach, combining empirical research methods with normative ethical analysis to investigate the patients' experience of time in (i) prenatal testing of a foetus for a genetic condition, (ii) predictive or diagnostic testing for breast and colon cancer, or (iii) testing for Huntington's disease (HD). We found that participants often manipulated their experience of time, either using a stepwise process of microdecisions to extend it or, under the time pressure of pregnancy, changing their temporal 'depth of field'. We discuss the implications of these strategies for normative concepts of moral agency, and for clinical ethics.     

The Full Spectrum of Clinical Ethical Issues in Kidney Failure. Findings of a Systematic Qualitative Review

Background

When treating patients with kidney failure, unavoidable ethical issues often arise. Current clinical practice guidelines some of them, but lack comprehensive information about the full range of relevant ethical issues in kidney failure. A systematic literature review of such ethical issues supports medical professionalism in nephrology, and offers a solid evidential base for efforts that aim to improve ethical conduct in health care.

Aim

To identify the full spectrum of clinical ethical issues that can arise for patients with kidney failure in a systematic and transparent manner.

Method

A systematic review in Medline (publications in English or German between 2000 and 2014) and Google Books (with no restrictions) was conducted. Ethical issues were identified by qualitative text analysis and normative analysis.

Results

The literature review retrieved 106 references that together mentioned 27 ethical issues in clinical care of kidney failure. This set of ethical issues was structured into a matrix consisting of seven major categories and further first and second-order categories.

Conclusions

The systematically-derived matrix helps raise awareness and understanding of the complexity of ethical issues in kidney failure. It can be used to identify ethical issues that should be addressed in specific training programs for clinicians, clinical practice guidelines, or other types of policies dealing with kidney failure.     

Implications of the human genome initiative for the primary care physician

... Despite the need for physicians to be knowledgeable about and open to advances in genetic technology, little is known about the level of preparedness of primary care physicians to offer new genetic tests. Evidence suggests that several barriers exist to physicians adopting genetic tests. These include lack of knowledge, inability to interpret probabilistic information, low tolerance for uncertainty, negative attitudes about their responsibility for genetic counseling and testing, lack of confidence in their clinical skills, and unfamiliarity with ethical issues raised by testing. This paper will explore some of these barriers in further depth, discuss the ethical impact of physician unpreparedness on both patient care and the diffusion of genetic tests, and describe a study that is currently underway to investigate some of these issues.     

Thyroid fine needle aspiration cytology: a review of the National Cancer Institute state of the science symposium

L. J. Layfield, E. S. Cibas and Z. Baloch
Thyroid fine needle aspiration cytology: a review of the national cancer institute state of the science symposium In October 2007, the National Cancer Institute (NCI) of the United States sponsored a conference reviewing the state of the science of thyroid fine needle aspiration (FNA). Multiple issues were reviewed including pre‐FNA requirements, training specifications, criteria for the selection of patients to undergo FNA, diagnostic categories and criteria, ancillary testing and post‐FNA follow‐up and treatment options. A summation of conclusions covering three of these topics, followed by a question and answer session, was subsequently presented at the 35th European Congress of Cytology (ECC) in Lisbon, Portugal in September of 2009. At the ECC, the findings of the NCI committee proposals regarding the indications for FNA of thyroid nodules, diagnostic categories and criteria, and post‐FNA options for follow‐up and treatment were discussed. Herein we review the presentations given at that conference.     

Ethical, legal and social issues of genetically modifying insect vectors for public health

The use of genetically modified (GM) insects for control of human disease can be consistent with common ethical norms of international society to reduce human suffering. This paper considers a range of ethical issues including animal rights, informed consent, community consensus and environmental viewpoints. Each community needs to decide its own priorities for methodology of disease policy guidance for ethical genetic engineering, and to negotiate with neighbouring countries. The approach to genetically modify insects raises few intrinsic ethical issues; however, important environmental and human health concerns need to be assessed before release of any GM insects. The policy that each community adopts should be the product of open dialogue involving all sectors of society. It can be expected that this process will take years and not all communities will endorse genetic control approaches to insect vectors.     

Points to Consider: Ethical,Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children and adolescents. In the past 20 years, much has changed in the field of genetics, including the development of powerful new technologies, new data from genetic research on children and adolescents, and substantial clinical experience. This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children. These recommendations are relevant to families, clinicians, and investigators. After a brief review of the 1995 statement and major changes in genetic technologies in recent years, this statement offers points to consider on a broad range of test technologies and their applications in clinical medicine and research. Recommendations are also made for record and communication issues in this domain and for professional education.     

DIAGNOSTIC SELF‐TESTING: AUTONOMOUS CHOICES AND RELATIONAL RESPONSIBILITIES

Diagnostic self‐testing devices are being developed for many illnesses, chronic diseases and infections. These will be used in hospitals, at point‐of‐care facilities and at home. Designed to allow earlier detection of diseases, self‐testing diagnostic devices may improve disease prevention, slow the progression of disease and facilitate better treatment outcomes. These devices have the potential to benefit both the individual and society by enabling individuals to take a more proactive role in the maintenance of their health and by helping society improve health and reduce health costs. However, the full implications of future home‐based diagnostic technology for individuals and society remain unclear due to their novelty. We argue that the development of diagnostic tools, especially for home use, will heighten a number of ethical challenges. This paper will explore some of the ethical implications of home‐based self‐testing diagnostic devices for the autonomous and relational dimensions of the person. This will be facilitated by examining the impact of diagnostic devices for individual autonomy, for the delivery of accurate diagnosis and for the personal significance of the information for the user. The latter will be examined using Charles Taylor's view of personhood and his emphasis on human agency and interpretation. While the ethical issues are not necessarily new, the development of home‐based self‐testing diagnostic devices will make issues regarding autonomy, accuracy of information and personal significance more and more demanding. This will be the case particularly when an individual's autonomous choices come into conflict with the person's relational responsibilities.     

Context, ethics and pharmacogenetics

Most of the literature on pharmacogenetics assumes that the main problems in implementing the technology will be institutional ones (due to funding or regulation) and that although it involves genetic testing, the ethical issues involved in pharmacogenetics are different from, even less than, 'traditional' genetic testing. Very little attention has been paid to how clinicians will accept this technology, their attitudes towards it and how it will affect clinical practice. This paper presents results from interviews with clinicians who are beginning to use pharmacogenetics and explores how they view the ethics of pharmacogenetic testing, its use to exclude some patients from treatment, and how this kind of testing fits into broader debates around genetics. In particular this paper examines the attitudes of breast cancer and Alzheimer's disease specialists. The results of these interviews will be compared with the picture of pharmacogenetics painted in the published literature, as a way of rooting this somewhat speculative writing in clinical practice.     

Closure of population biobanks and direct-to-consumer genetic testing companies

Genetic research gained new momentum with the completion of the Human Genome Project in 2003. Formerly centered on the investigation of single-gene disorders, genetic research is increasingly targeting common complex diseases and in doing so is studying the whole genome, the environment and its impact on genomic variation. Consequently, biobanking initiatives have emerged around the world as a tool to sustain such progress. Whether they are small scale or longitudinal, public or private, commercial or non-commercial, biobanks should consider the possibility of closure. Interestingly, while raising important ethical issues, this topic has hardly been explored in the literature. Indeed, ethical issues associated with sale, insolvency, end of funding, or transfer of materials to other entities (which are all issues either related to or possible consequences of closure) are seldom the subject of discussion. In an attempt to fill this gap, this paper will discuss—using population and direct-to-consumer (DTC) genetic testing companies’ biobanks as case studies—(1) international and national normative documents addressing the issue of closure and (2) the internal policies of population biobanks and DTC genetic testing companies. The analysis will inform the debate on biobank closure and elucidate the underlying ethical issues, which include, but are not limited to informed consent, storage and privacy.     

Beyond consent: ethical and social issues in genetic testing

Informed consent is a vital ethical doctrine in clinical medicine and, through genetic counselling, is being applied to genetic testing. But genetic testing raises issues that transcend the traditional concept of informed consent. Genetic tests are adopted without demonstrable clinical benefit, and the consequences of testing can reach beyond the individual to their families and communities. Understanding the social and cultural context of genetic testing will lead to more informed discussion and debate on these issues.     

How Distinctive is Genetic Information?

There is extensive discussion of the ethical, social, economic and political issues associated with the use of technologies based on DNA techniques. Many of these debates are premised on the assumption that DNA, and the genetic information that may be derived from it, have unique features which raise new social and ethical issues. In this paper it is argued that several of the features associated with DNA which are sometimes regarded as unique are shared with other biological materials. Others owe more to the cultural image of DNA and some of the metaphors used to discuss it in biology and in wider debates than to the biological properties of DNA. The paper discusses the concepts of genetic material and genetic information and the social construction of DNA in relation to forensic DNA databases, paternity testing and genetic testing for disease. The paper concludes by suggesting that there are seven areas where issues related to DNA and genetic information are at least relatively distinct.     

Information and consent in internet paternity testing: focus on minors' protection in Italy

Paternity testing in Italy is usually performed by private laboratories and universities having direct contacts with the applicants. Recently, the number of paternity tests offered through laboratory websites has increased in Italy and Europe. The execution of genetic tests, including paternity testing based on DNA analysis, represents a complex act, which contains three main steps. Paternity analyses carried out by laboratories via Internet are performed on samples collected by the applicants and then mailed back to the laboratories without any patient-physician relationship. Information is given to the subjects through the laboratory's website or mailed with the test order form. The execution of "household" DNA analysis without technical precautions may provide an incorrect response with severe consequences on the individual who has undergone testing, on the family involved, and on society in general. The problems connected with this kind of analysis are not technical, but ethical and deontological. In this work, we will discuss the problems related to information and consent by way of outlining the relevant Italian laws and codes of medical ethics. The Italian Privacy's Guarantor is assessing the ethical and legal implications, but regulations are not yet in place. We believe that adequate information related to this practice cannot be given via Internet, and, consequently, the validity of the consent expressed during this kind of procedure can be uncertain. Further, we will analyze issues regarding the importance of minors' protection when a paternity test is performed via Internet. In our opinion, the complexity of the situations and expectations linked to paternity investigations require a special sensitivity in dealing with each case, based on a patient-physician relationship in the decision-making process especially referring to the defense of the minors' well-being.     

Bioethics for clinicians: 14. Ethics and genetics in medicine

Information about a patient''s inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients'' lives.