Lynn Gillam

Ethics, Reflexivity, and “Ethically Important Moments” in Research

Ethical tensions are part of the everyday practice of doing research—all kinds of research. How do researchers deal with ethical problems that arise in the practice of their research, and are there conceptual frameworks that they can draw on to assist them? This article examines the relationship between reflexivity and research ethics. It focuses on what constitutes ethical research practice in qualitative research and how researchers achieve ethical research practice. As a framework for thinking through these issues, the authors distinguish two different dimensions of ethics in research, which they term procedural ethics and “ethics in practice.” The relationship between them and the impact that each has on the actual doing of research are examined. The article then draws on the notion of reflexivity as a helpful way of understanding both the nature of ethics in qualitative research and how ethical practice in research can be achieved.

Slight/mild sensorineural hearing loss in children.

OBJECTIVE. The goal was to determine the prevalence and effects of slight/mild bilateral sensorineural hearing loss among children in elementary school. METHODS. A cross-sectional, cluster-sample survey of 6581 children (response: 85%; grade 1: n = 3367; grade 5: n = 3214) in 89 schools in Melbourne, Australia, was performed. Slight/mild bilateral sensorineural hearing loss was defined as a low-frequency pure-tone average across 0.5, 1, and 2 kHz and/or a high-frequency pure-tone average across 3, 4, and 6 kHz of 16 to 40 dB hearing level in the better ear, with air/bone-conduction gaps of <10 dB. Parents reported childrens health-related quality of life and behavior. Each child with slight/mild bilateral sensorineural hearing loss, matched to 2 normally hearing children (low-frequency pure-tone average and high-frequency pure-tone average of ≤15 dB hearing level in both ears), completed standardized assessments. Whole-sample comparisons were adjusted for type of school, grade level, and gender, and matched-sample comparisons were adjusted for nonverbal IQ scores. RESULTS. Fifty-five children (0.88%) had slight/mild bilateral sensorineural hearing loss. Children with and without sensorineural hearing loss scored similarly in language (mean: 97.2 vs 99.7), reading (101.1 vs 102.8), behavior (8.4 vs 7.0), and parent- and child-reported child health-related quality of life (77.6 vs 80.0 and 76.1 vs 77.0, respectively), but phonologic short-term memory was poorer (91.0 vs 102.8) in the sensorineural hearing loss group. CONCLUSIONS. The prevalence of slight/mild bilateral sensorineural hearing loss was lower than reported in previous studies. There was no strong evidence that slight/mild bilateral sensorineural hearing loss affects adversely language, reading, behavior, or health-related quality of life in children who are otherwise healthy and of normal intelligence.

“You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)†

There has been much debate about the psychosocial effects of predictive genetic testing in minors. The majority of this debate has been theoretical, with little empirical evidence published. We conducted in‐depth interviews with 18 young people who had undergone testing, to explore the range of harms and benefits that they perceived were associated with their tests. Participants were eight individuals who were tested for Huntington disease (two gene‐positive, six gene‐negative) and ten who were tested for familial adenomatous polyposis (five gene‐positive, five gene‐negative). At the time of their test they ranged from 10 to 25 years of age. When interviewed they ranged from 14 to 26 years of age. Harms described included knowledge of future illness, witnessing distress in parents, negative effects on family relationships and friendships, effects upon employment and school, experiencing regret, feeling guilty and having to confront difficult issues. Benefits included knowledge of gene‐negative status, relief from uncertainty, witnessing relief in parents, feeling able to plan for the future, positive effects on family relationships and friendships, feeling empowered and experiencing a sense of clarity about what is important in life. Harms were described in relation to gene‐negative test results, as were benefits in relation to gene‐positive test results. The testing process itself had several positive and negative effects for young people, distinct from the actual test result. Future research concerning the effects of predictive genetic testing in young people must remain broad and should aim to measure the beneficial as well as the harmful effects that resonate for young people themselves.

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Molecular karyotyping using chromosome microarray analysis (CMA) detects more pathogenic chromosomal anomalies than classical karyotyping, making CMA likely to become a first tier test for prenatal diagnosis. Detecting copy number variants of uncertain clinical significance raises ethical considerations. We consider the risk of harm to a woman or her fetus following the detection of a copy number variant of uncertain significance, whether it is ethically justifiable to withhold any test result information from a woman, what constitutes an ‘informed choice’ when women are offered CMA in pregnancy and whether clinicians are morally responsible for ‘unnecessary’ termination of pregnancy. Although we are cognisant of the distress associated with uncertain prenatal results, we argue in favour of the autonomy of women and their right to information from genome‐wide CMA in order to make informed choices about their pregnancies. We propose that information material to a womans decision‐making process, including uncertain information, should not be withheld, and that it would be paternalistic for clinicians to try to take responsibility for womens decisions to terminate pregnancies. Non‐directive pre‐test and post‐test genetic counselling is central to the delivery of these ethical objectives.

An international survey of predictive genetic testing in children for adult onset conditions

Purpose: Predictive genetic testing is offered to asymptomatic adults even when there is no effective prophylaxis or treatment. Testing of young people in similar circumstances is controversial, and guidelines recommend against it. We sought to document descriptive examples of the occurrence of genetic testing in young people for nonmedical reasons, in the countries where guidelines exist.Methods: Clinical geneticists in the USA, Canada, UK, Australia, and New Zealand were surveyed about the occurrence and outcomes of testing in asymptomatic young people for conditions where no prophylaxis or treatment exists and onset is usually in adulthood.Results: Of 301 responses, details were provided of 49 cases where such testing had occurred. The most common condition tested for was Huntington Disease. In 22 cases (45%), the young person tested was immature, defined as under the age of 14 years. Results were disclosed to only two immature minors and in three cases parents experienced clinically significant anxiety related to how they would pass on information to their gene positive child. In 27 cases (55%), the young person tested was mature. Results were disclosed to 26 mature minors and it was reported that two individuals experienced an adverse event. Consistent follow-up did not take place and findings represent the minimum frequency of adverse events. The majority of respondents agree with existing guidelines but many believe each case must be considered individually.Conclusion: Clinicians agree with existing guidelines regarding predictive testing in young people, but choose to provide tests for nonmedical reasons in specific cases.

The Declaration of Helsinki, CIOMS and the ethics of research on vulnerable populations.

In an attempt to broaden the current debate over proposed revisions to the Declaration of Helsinki, we define vulnerable subjects as those lacking basic rights, and examine the ethical risks inherent in research on such subjects. We then propose special ethical criteria for the conduct and publication of research on vulnerable subjects.

Holding your breath: interviews with young people who have undergone predictive genetic testing for Huntington disease.

Guidelines recommend that predictive genetic testing for Huntington disease (HD) should be deferred until the age of majority (18 years in most countries). However, opposition to these guidelines exists, with some professionals arguing that testing may be beneficial for young people, and should be considered much earlier. Empirical evidence is unable to substantiate either position. We aimed to (1) explore the experience of predictive genetic testing for HD from the young persons perspective and to (2) document the impact that testing has upon various aspects of young peoples lives. Eight young people who had undergone predictive genetic testing for HD were interviewed. They ranged in age from 17 to 25 years at the time of their test. Four were female and two had received a gene‐positive test result. Interviews were taped, transcribed and analyzed thematically. Three themes emerged related to the time before the test was performed: “Living as though gene‐positive,” “Risk behaviors,” and “Complex pasts.” Two themes emerged related to the time after testing: “Identity difficulties” and “Living again.” When the young people spoke about their experiences of predictive testing, they placed these within a broader context of growing up in a family affected by HD. For some of the young people, uncertainty about their genetic status constituted a barrier in their lives and prevented them from moving forward. Testing alleviated these barriers in some cases and helped them to move forward and make significant behavioral changes. Not one of the young people interviewed regretted undergoing predictive testing.

Revealing the diagnosis of androgen insensitivity syndrome in adulthood

It is always going to be difficult for a woman to find out that she is genetically male. What are the ethical issues generated by being confronted by outdated practice on disclosure?

Ethical Principles for the Management of Infants with Disorders of Sex Development

The Fifth World Congress on Family Law and Children’s Rights (Halifax, August 2009) adopted a resolution endorsing a new set of ethical guidelines for the management of infants and children with disorders of sex development (DSD) [www.lawrights.asn.au/index.php?option=com_content&view=article&id=76&Itemid=109]. The ethical principles developed by our group were the basis for the Halifax Resolution. In this paper, we outline these principles and explain their basis. The principles are intended as the ethical foundation for treatment decisions for DSD, especially decisions about type and timing of genital surgery for infants and young children. These principles were formulated by an analytic review of clinician reasoning in particular cases, in relation to established principles of bioethics, in a process consistent with the Rawlsian concept of reflective equilibrium as the method for building ethical theory. The principles we propose are: (1) minimising physical risk to child; (2) minimising psychosocial risk to child; (3) preserving potential for fertility; (4) preserving or promoting capacity to have satisfying sexual relations; (5) leaving options open for the future, and (6) respecting the parents’ wishes and beliefs.

Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments

Predictive genetic testing is now routinely offered to asymptomatic adults at risk for genetic disease. However, testing of minors at risk for adult-onset conditions, where no treatment or preventive intervention exists, has evoked greater controversy and inspired a debate spanning two decades. This review aims to provide a detailed longitudinal analysis and concludes by examining the debates current status and prospects for the future. Fifty-three relevant theoretical papers published between 1990 and December 2010 were identified, and interpretative content analysis was employed to catalogue discrete arguments within these papers. Novel conclusions were drawn from this review. While the debates first voices were raised in opposition of testing and their arguments have retained currency over many years, arguments in favour of testing, which appeared sporadically at first, have gained momentum more recently. Most arguments on both sides are testable empirical claims, so far untested, rather than abstract ethical or philosophical positions. The dispute, therein, lies not so much in whether minors should be permitted to access predictive genetic testing but whether these empirical claims on the relative benefits or harms of testing should be assessed.