"They don't really get heard": A qualitative study of sibling involvement across two forms of family-based treatment for adolescent anorexia nervosa.

Little is known about the involvement of siblings in family-based treatment (FBT) for anorexia nervosa (AN). To explore the experience of families, adolescents who had completed FBT, their siblings, and parents were interviewed. Siblings reported that involvement in FBT enhanced their understanding of anorexia and that they supported their family in various ways. While siblings often wished they had attended more sessions, there was no consensus among parents and patients regarding sibling attendance and many were concerned about potential negative impacts on siblings. Clinicians should discuss sibling roles and expectations early in FBT and work actively with families to address concerns.

"I'm scared of being like mum": The Experience of Adolescents Living in Families with Huntington Disease.

BACKGROUND: The debilitating and very visible motor effects of the incurable, progressive, and fatal neurodegenerative condition Huntington disease (HD) are accompanied by more insidious cognitive, behavioural and personality disturbance. The usual age of HD onset exposes children and adolescents to the natural history of the condition as it affects a parent. This group of young people has been largely overlooked in most research, which has concentrated upon the experiences of affected individuals and their partners. OBJECTIVE: This study explores the psychosocial context of young people living in families affected by HD, to better understand their experiences and the specific challenges they face. METHOD: Ten young people from five unrelated families affected by HD separately participated in semi-structured individual interviews. At the time of interview, nine were less than 18 years of age, and none had requested a predictive genetic test. RESULTS: The young people demonstrated a depth of insight in their descriptions of complex and often painful family circumstances. In addition to the tasks and challenges associated with typical adolescent development, young people from families affected by Huntington disease recognize that they face greater responsibilities and stresses. CONCLUSION: This study highlights areas of unmet needs for young people living in families affected by HD. Best practice HD care should include consideration of the needs of young people in the family, and offer developmentally appropriate HD education, prospective orientation to genetic services, and psychological and social support.

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by variable age of onset, with no treatment proven to alter its natural history. Siblings of individuals with FRDA have a 25 % risk of developing the condition, raising issues around genetic testing of asymptomatic minors. There is a lack of professional consensus and limited empirical evidence to support provision or refusal of testing. This study aimed to ascertain the opinions of individuals with and parents of individuals with FRDA regarding pre-symptomatic testing of minors. A qualitative research approach using semi-structured interviews and thematic analysis was employed. Interviews with ten individuals with FRDA, and ten parents of individuals with FRDA were conducted, recorded, transcribed and analyzed. Four findings emerged. First, a number of arguments for and against testing minors were identified. Second, strong support existed from parents about the parental right to test their at-risk immature children, but individuals with FRDA were of mixed opinions. Third, participants felt it was not the clinician's role to make a final decision about whether testing occurs. Finally, a specific issue of concern regarding testing was what and when to tell at-risk children about the test result. The findings highlight a dilemma of how to manage the desires of some individuals and families affected by FRDA to access testing, when there is a lack of professional consensus due to differing opinions regarding autonomy, confidentiality and risk of harm. Research regarding the impact of testing and the views of at-risk individuals and clinicians is required so an appropriate framework for dealing with this contentious issue is developed.

Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.

BACKGROUND: Genetic carrier screening is increasingly possible for many conditions, but it is important to ensure decisions are informed. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to evaluate informed choice in prenatal screening for Down syndrome, measuring knowledge, attitudes and uptake. To apply the MMIC in other screening settings, the knowledge scale must be modified. OBJECTIVE: To develop and validate a modified MMIC knowledge scale for use with women undergoing carrier screening for fragile X syndrome (FXS). SETTING AND PARTICIPANTS: Responses to MMIC items were collected through questionnaires as part of a FXS carrier screening pilot study in a preconception setting in Melbourne, Australia. DESIGN: Ten knowledge scale items were developed using a modified Delphi technique. Cronbach's alpha and factor analysis were used to validate the new FXS knowledge scale. We summarized the knowledge, attitudes and informed choice status based on the modified MMIC. RESULTS: Two hundred and eighty-five women were recruited, 241 eligible questionnaires were complete for analysis. The FXS knowledge scale items measured one salient construct and were internally consistent (alpha = 0.70). 71% (172/241) of participants were classified as having good knowledge, 70% (169/241) had positive attitudes and 27% (65/241) made an informed choice to accept or decline screening. DISCUSSION AND CONCLUSIONS: We present the development of a knowledge scale as part of a MMIC to evaluate informed choice in population carrier screening for FXS. This can be used as a template by other researchers to develop knowledge scales for other conditions for use in the MMIC.

Balancing parental involvement with adolescent friendly health care in teenagers with diabetes: are we getting it right?

PURPOSE: Current guidance about adolescent-friendly health care emphasizes the benefits of seeing young people alone for confidential consultations. Yet in young people with Type 1 diabetes mellitus (T1DM), parental involvement has been shown to contribute to better diabetes control. This study aimed to better understand how these apparent tensions are reconciled in clinical practice by identifying how frequently adolescents with T1DM are seen alone and exploring parents' opinions about this. METHODS: A convenience sample of consecutive parents of adolescents (aged 12-21 years) with T1DM was recruited from the outpatient clinic of a specialist diabetes service and asked to complete a 30-item written survey. RESULTS: A total of 137 surveys were returned from 146 eligible parents (94%) of whom 106 had complete data. Thirteen percent of adolescents with T1DM had ever been seen alone for a confidential consultation with their doctor. The most common concern for parents about confidential care was not being informed about important information, not just about T1DM, but also about common adolescent risk behaviors and mental health states. DISCUSSION: These findings suggest that young people with T1DM are not being routinely seen alone for confidential care. This could be attributed to: parents or adolescents declining confidential care; clinicians being time-poor and/or lacking the necessary skills; or a culture of uncertainty about the value of confidential care. A discussion is now required about how best to enact adolescent-friendly care in the chronic-illness outpatient setting, where parental involvement is understood to be important for effective chronic illness management.

"There's a whole different way of working with adolescents": interviews with Australian Genetic Counselors about their experiences with adolescent clients.

Adolescence is a developmental period marked by unique physical, psychological and social changes. Guidelines about working with adolescents are available to health professionals in other fields, yet few resources are tailored specifically to genetic counselors. The current qualitative study explored the experiences of genetic counselors who work with adolescent clients to determine whether challenges exist and if further training and support are needed. Semi-structured interviews were conducted with 11 genetic counselors from Australia. Interview transcripts were analyzed using thematic analysis from which 7 key themes emerged: 1) Adolescents: A distinct client group? 2) Characteristics of adolescents; 3) Strategies for working with adolescents; 4) Confidentiality; 5) Parental involvement and presence in sessions; 6) Benefits of working with adolescents; and 7) The effectiveness of past training and education. The findings hold important implications for clinical practice and may inform future training programs and guidelines for genetic counselors internationally.

"It was the missing piece": adolescent experiences of predictive genetic testing for adult-onset conditions.

PURPOSE: Predictive genetic testing for adult-onset conditions, such as Huntington disease, is available to at-risk adults. Guidelines consistently recommend against such testing before adulthood unless there is associated medical benefit. Guidelines, and related commentary, cite a range of potential harms that might be associated with young people undergoing testing, yet evidence is limited. Clinical practice has forged ahead, with research demonstrating that some clinicians are making their own determinations about the best interests of individual young people and are providing testing in specific cases. For the first time, this study reports empirical evidence concerning the process and impacts of predictive testing in mature minors for adult-onset conditions where no medical benefit exists. METHODS: First-hand accounts from nine young people have been documented. All were aged 16 or 17 years of age when tested. Six tested gene positive. RESULTS: Contrary to existing assumptions, the results convey a range of benefits and absence of harms flowing from testing. Some individuals reported considerable distress associated with institutional processes before testing. CONCLUSION: The results highlight that young people from families affected by genetic conditions might possess task-specific competence relating to decision making about predictive testing. Further research and longer-term follow-up is required to study the outcomes of testing in young people.

Confidential consultations with adolescents: an exploration of Australian parents' perspectives.

PURPOSE: Extensive literature documents the high value adolescents place on seeing doctors alone for confidential health care. This is articulated in clinical guidelines that promote confidentiality for adolescents. However, little research has explored parents' views and beliefs regarding their adolescent children seeing doctors alone for confidential care. METHOD: A qualitative study was undertaken to investigate the beliefs and opinions of parents about confidential care for adolescents. In-depth semi-structured interviews were conducted with 17 parents of adolescents recruited through the Centre for Adolescent Health at the Royal Children's Hospital in Melbourne, Australia. Interviews were audio-recorded and transcribed verbatim. Transcripts were analyzed using content and thematic analyses. RESULTS: Parents demonstrated a wide variety of opinions about confidentiality for adolescents in the health setting, with several expressing concern about not being involved in their children's care. Parents' opinions appeared to be underpinned by two key factors; the way in which they perceived their role as a parent and the level of trust they held in health professionals generally but also, specifically, their child's doctor. CONCLUSION: In this study, parental desires regarding confidentiality for their adolescent children in the health setting were not always in accordance with current guidance provided to health professionals. Consequently, the provision of confidential care for young people may be more successful if health professionals invest in building trust with parents, as well as with adolescents, to facilitate parental acceptance of confidential health care for adolescents.

Ethical dilemmas associated with genetic testing: which are most commonly seen and how are they managed?

PURPOSE: The aim of this study was to document the range and frequency of ethical dilemmas associated with genetic testing encountered by genetic health professionals and to determine the strategies used to manage them. METHODS: An online survey was used to document how often the 11 key ethical dilemmas have been encountered; whether any additional dilemmas have been encountered; and how these dilemmas have been managed. Members of the Australasian Association of Clinical Geneticists, Australasian Society of Genetic Counsellors, and genetic social workers practicing in Australia and New Zealand were invited to participate. RESULTS: A total of 102 responses were received (31% response rate). Respondents had encountered all of the 11 ethical dilemmas included in the survey, and 18 respondents had encountered 14 additional dilemmas. Respondents encountered an average of 2.2 dilemmas per year of practice. Peer and clinical supervision were the most common strategies used to manage dilemmas, and seeking advice from clinical ethics committees was rare. Occasionally, respondents facilitated practices they deemed unethical as a consequence of client deception. CONCLUSION: Ethical dilemmas of genetic testing are encountered regularly in clinical genetics practice. Evidence provided by our study can assist in targeting training, support, and guidance to help genetic health professionals navigate such dilemmas in the future.

Tricky teens: are they really tricky or do genetic health professionals simply require more training in adolescent health?

Providing health services to young people poses specific challenges as a consequence of their unique developmental stage. In the field of genetics, providing developmentally appropriate care can be further complicated by the familial nature of genetic information. Several fields of medicine have developed specific guidance around how best to work with adolescent patients. No such advice exists in the field of clinical genetics or genetic counseling. It is time for the field of genetics to address this aspect of practice through development of a specific adolescent-friendly model of care. Without such a model, the field risks falling behind other medical specialties and adolescents who visit genetic health professionals are at risk of missing out on best possible care.

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 debate's 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 debate's 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.

Adolescents with implantable cardioverter defibrillators: a patient and parent perspective.

BACKGROUND: An implantable cardioverter defibrillator (ICD) is a device used in the treatment of individuals with life-threatening cardiac conditions. These include genetic disorders such as long QT syndrome, hypertrophic cardiomyopathy, and Brugada syndrome, all of which have the propensity to cause sudden cardiac death. Adults with ICDs consistently report elevated levels of anxiety and depression, as well as negative lifestyle changes associated with the device. Compared to older ICD recipients, young patients face decades of life with the device and the long-term impact and implications are important to consider. This research explores the experiences of adolescents living with an ICD. Parents of these adolescents were also included to explore the impact on them as the primary caregivers. METHODS: A qualitative approach was chosen to explore the lived experience; semistructured interviews with six adolescents and six parents were conducted from which a number of key themes emerged. RESULTS: The experiences described by participants included the restrictions adolescents face, the ICD shock experience, and ongoing challenges post-ICD implantation. However, both adolescents and parents were able to adjust to life after receiving an ICD and described several benefits associated with having the device. Findings also emerged relating to communication between health professionals and adolescents, and the limitations adolescents impose on themselves post-ICD implantation. CONCLUSION: These findings have important implications for clinical practice and may help guide medical management for adolescents with ICDs and their families.

Confidentiality with adolescents in the medical setting: what do parents think?

PURPOSE: When confidential health care is provided to adolescents they are more likely to seek care, disclose sensitive information, and return for future visits. Guidelines for health professionals recommend seeing young people alone to facilitate confidential care. We sought to document parental views regarding confidentiality with adolescents, aiming to identify topics that parents believe they should be informed about despite an assurance of confidentiality between their child and the doctor. We also aimed to document harms and benefits that parents associate with adolescents seeing doctors alone. METHODS: A sample of 86 parents attending an adolescent medicine clinic with their son/daughter was surveyed using a brief, anonymous questionnaire. RESULTS: Parents identified several benefits associated with confidential care, yet also believed they should be informed about a wide range of topics, even if their children did not want them to know. Parents' primary concern about confidentiality was a fear of not being informed about important information. CONCLUSIONS: Parental views concerning confidentiality are complex and conflicting and differ from current guidance provided to health professionals. Ensuring that parents accurately understand the limits to confidentiality and support the notion of confidential care for their children is a challenging yet vital task for health professionals.

Visual storytelling: a beneficial but challenging method for health research with young people.

Visual storytelling is a new research approach drawing on established methods of photovoice and photo elicitation. It appears well suited to research with young people. We explored the feasibility of this approach, reflecting on benefits and challenges encountered while using it during a study of chronic disease self-management in adolescents. During in-depth interviews, 68 participants were questioned about the value of visual storytelling. Thematic analysis was applied. Visual storytelling was valued for (a) being a draw card during recruitment and increasing positive feelings about the research; (b) being fun; (c) promoting self-understanding; and (d) promoting expression, communication, and focus during interviews. Deciding what to photograph was difficult. More time and effort was required by researchers than for a standard qualitative interview study. The technique facilitated rich interviews, drawing into focus details of young peoples' lives that otherwise might not have been discussed.

The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis.

Predictive genetic tests for familial adenomatous polyposis (FAP) are routinely offered to young people during early adolescence. While this is not controversial, due to the medical benefit conferred by the test, it is nonetheless challenging as a consequence of the stage of life of the young people, and the simultaneous involvement of multiple family members. Despite these challenges, it is possible to ensure that the test is offered in such a way that it actively acknowledges and facilitates young people's developing autonomy and psychosocial well-being. In this paper we present findings from ten in-depth interviews with young people who have undergone predictive genetic testing for FAP (four male, six female; five gene-positive, five gene-negative; aged 10-17 years at the time of their predictive test; aged 12-25 years at the time of their research interview). We present five themes that emerged from the interviews which highlight key ethical challenges associated with such testing. These are: (1) the significance of the test; (2) young people's lack of involvement in the decision to be tested; (3) young people's limited understanding; (4) provision of the blood test at the first visit; and (5) group testing of family members. We draw on these themes to make eight recommendations for future practice. Together, these recommendations highlight the importance of providing developmentally appropriate care to young people undergoing predictive genetic testing for FAP.

Is my mum going to hear this? Methodological and ethical challenges in qualitative health research with young people.

Ethical issues arise in all research settings. However, qualitative research with young people raises specific dilemmas that warrant special attention. In this paper we describe an ethical dilemma that arose during a qualitative project we carried out exploring self-management of chronic illness in adolescents. A participant disclosed details of poor adherence with medication, which had significant health implications. Prior to this disclosure he had been assured of confidentiality and thus we found ourselves unsure of how to proceed. Here, we analyse the case in detail, highlighting the ethically important moments, the options for action and the implications of these. We do this with the aim of facilitating ethical mindfulness and thus, ultimately, ethical research practice. As a backdrop to this case we consider the broader ethical context. We find that qualitative research is susceptible to ethical dilemmas because: (1) it is not always possible to predict all possible questions and responses; (2) the nature of the relationship between researchers and participants is amenable to sensitive disclosures; (3) the process of qualitative research can make it difficult for participants to voice concerns or withdraw; and (4) participants' identities are generally known to researchers, complicating boundary issues. Research with young people is susceptible to ethical dilemmas because: (1) young people have limited life experience; (2) consent is often required from both young people and parents; (3) issues of competence can complicate assumptions about informed consent; and (4) the power differential between researchers and participants is significant. When combining qualitative research methods and young participants, the scope for ethical risk is thus substantial.

"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.

"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 person's perspective and to (2) document the impact that testing has upon various aspects of young people's 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.