Making community voices heard in a research-health service alliance, the evolving role of the Community Advisory Group: a case study from the members' perspective.

BACKGROUND: The Melbourne Genomics Health Alliance (the Alliance) is a collaboration of leading hospitals, research and academic organisations, supported by its member organisations and the Victorian Government. The Alliance was set up by its members in 2013 to steer the translation of genomics, making it an integral part of health care in Victoria, Australia. The Community Advisory Group (CAG) was formed soon after, to give input and advice across the program. This was to ensure consideration of community values, perspectives and priorities, and knowledge translation for patient care. The CAG was charged with providing a strong community voice for the duration of the program. Appointed members were experienced consumer advocates with developed connections to the community. MAIN BODY: The Alliance progressed from an initial Demonstration Project (2013-2015) to a multifaceted program (2016-2020). The CAG worked strategically to help address complex issues, for example, communication, privacy, informed consent, ethics, patient experience, measurement and evaluation standards and policies, data storage and re-use of genomic data. Many aspects of translating genomics into routine care have been tackled, such as communicating with patients invited to have genomic testing, or their caregivers, and obtaining informed consent, clinical questions across 16 areas of health care, training and education of health and laboratory professionals, genomic data management and data-sharing. Evidence generated around clinical utility and cost-effectiveness led to government funding of testing for complex genetic conditions in children. CONCLUSION: The CAG activities, recorded in a CAG-inspired Activity register, span the full spectrum of information sharing and consultation to co-design and partnership. The CAG were involved at multiple levels of participation and in all tiers of activity including governance, development of policies and procedures, program planning and evaluation. Working relationships were built up and a level of trust instilled to advance the Alliance work program in ensuring an effective patient-care model of delivery of genomics. CAG input into project deliverables has been tangible. Less tangible contributions included presentations at external meetings and conferences, direct interactions at meetings with Alliance members, interactions with visitors and external experts, taking part in consultations with experts, state and federal government.

Melbourne Genomics Health Alliance was established in 2013 to steer genomics into health care in Victoria, Australia. The Community Advisory Group (CAG) was formed soon after to provide advice and insights from the patient perspective. The CAG has added value to the Alliance's complex research-to-clinical service program of work over eight years to date. Following an explanation of the program, the CAG members identified priority areas and mechanisms for their involvement. Areas that members were involved in included: communication, visual identity and website, patient portal and its evaluation, information management, consent processes, laboratory requirements, tools for patient experience and quality of life measures, predictive health issues study, storage and sharing of data, databases, CAG Communication Plan, the Patient Guide, role with Victorian Government Department of Health and Human Services, implementation plan, workshop to upskill patient advocates, financial and strategic planning. Members also presented on the role of the CAG at conferences and symposia. The balanced, trusting relationship that developed between the CAG, the Program Team and its governance structure was of great value to and an achievement for the Alliance. CAG input into project deliverables and impact was recorded in a CAG inspired Activity Register and has been very tangible. Their less tangible contribution to the project is also important. Contributions included presentations at external meetings, direct interactions at annual meetings with Alliance members, interactions with visitors and external experts, taking part in consultations with experts, state and federal government. These provided opportunities to influence mindsets.

"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result.

Chromosomal microarray is an increasingly utilized diagnostic test, particularly in the pediatric setting. However, the clinical significance of copy number variants detected by this technology is not always understood, creating uncertainties in interpreting and communicating results. The aim of this study was to explore parents' experiences of an uncertain microarray result for their child. This research utilized a qualitative approach with a phenomenological methodology. Semi-structured interviews were conducted with nine parents of eight children who received an uncertain microarray result for their child, either a 16p11.2 microdeletion or 15q13.3 microdeletion. Interviews were transcribed verbatim and thematic analysis was used to identify themes within the data. Participants were unprepared for the abnormal test result. They had a complex perception of the extent of their child's condition and a mixed understanding of the clinical relevance of the result, but were accepting of the limitations of medical knowledge, and appeared to have adapted to the result. The test result was empowering for parents in terms of access to medical and educational services; however, they articulated significant unmet support needs. Participants expressed hope for the future, in particular that more information would become available over time. This research has demonstrated that parents of children who have an uncertain microarray result appeared to adapt to uncertainty and limited availability of information and valued honesty and empathic ongoing support from health professionals. Genetic health professionals are well positioned to provide such support and aid patients' and families' adaptation to their situation as well as promote empowerment. © 2016 Wiley Periodicals, Inc.

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.

AIM: Spinal muscular atrophy (SMA) type 1 is a relatively common, untreatable and invariably fatal neuromuscular disorder of early childhood. Psychosocial care is vital in management of families affected by this disease. There are few studies examining the impact of having a family member with a neuromuscular disorder, and none describing parents' experiences of having a child with SMA type 1. This study explored parents' perspectives of having a child with SMA type 1, from diagnosis to bereavement, in order to inform clinical practice by identifying aspects most meaningful to parents and to aid development of support strategies. METHODS: This qualitative study undertook thematic analysis of 11 in-depth interviews with 13 bereaved parents of children with SMA type 1. RESULTS: While individuals' experiences were unique, common themes emerging from the data include: experiencing shock and anticipatory grief, processing feelings of responsibility and helplessness, experiencing multiple losses including the loss of future reproductive freedom, feeling supported, regaining a sense of control by making decisions about the child's life and death, and finding peace in the dying process. CONCLUSION: These findings highlight the importance of a multidisciplinary approach to the care of such families, including psychosocial support beginning from the time of diagnosis and continuing to bereavement. We suggest areas for further exploration, with a goal to develop family-centred and evidence-based psychosocial care guidelines to complement the current Standards of Care for Spinal Muscular Atrophy.

Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals.

Indigenous populations are thought to have particularly low levels of access to genetic health services, and cultural issues may be a contributing factor. This article presents the findings of the first study of genetic health service provision to Indigenous Australians. This qualitative study aimed to identify elements of culturally-competent genetic health service provision in Indigenous Australian contexts. Twelve semi-structured interviews were conducted with genetic counselors and clinical geneticists from around Australia who had delivered services to Indigenous Australians. Participants were asked to describe their experiences and identify any collective cultural needs of Indigenous clients, as well as comment on specific training and resources they had received or used. Interviews were audio-recorded and transcribed with thematic analysis conducted on the data. The findings show that participants were reluctant to generalize the needs of Indigenous peoples. Some participants asserted that Indigenous peoples have needs that differ from the general population, while others felt that there were no collective cultural needs, instead advocating an individualized approach. Being flexible and practical, taking time to build rapport, recognizing different family structures and decision-making processes, as well as socio-economic disadvantage were all identified as important factors in participants' interactions with Indigenous clients. Indigenous support workers and hospital liaison officers were seen as valuable resources for effective service provision. The implications of this study for training and practice are discussed.

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study.

Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of the lip with or without cleft palate (CL/P). 'OzCleft', a family-based genotype/phenotype study, is investigating this further. Participation for families involves various clinical investigations of the child with the cleft, and their unaffected sibling(s) and parents. Informal feedback from individuals involved in OzCleft suggested that participation in this research programme had benefits for families. Taking a qualitative approach, this study sought to investigate this hypothesis further. Semi-structured in-depth interviews were conducted with nine parents who had participated in OzCleft. All parents described participation as a positive experience for themselves and their families. Perceived benefits included a greater appreciation of the cleft treatment experience by unaffected family members. Being involved in a genetic study raised issues for parents regarding the cause of clefting in their child. While some parents found the possibility of a genetic component reassuring, it also raised questions about the potential implications for future generations. Parents were largely unsure about how to communicate this information to their children and the predictive value of this information. This study suggests a lack of genetic understanding and/or perceived value of genetic information by parents of children with CL/P that, in turn, highlights the need for increased support from genetic health professionals in this area.

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.

The Melbourne high school Tay-Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively designed questions. Questionnaires were sent to all carriers and two non-carriers for each carrier who were screened in the program between 1999 and 2005. Twenty-four out of 69 (34.8 %) carriers and 30/138 (21.7 %) non-carriers completed the questionnaire. Most participants (82 %) retained good knowledge of TSD and there was no evidence of a difference in knowledge between carriers and non-carriers. Most participants (83 %) were happy with the timing and setting of screening and thought that education and screening for TSD should be offered during high school. There was no difference between carriers and non-carriers in mean scores for the State Trait Anxiety Inventory and Decision Regret Scale. This evaluation indicated that 5-11 years post high school screening, those who were screened are supportive of the program and that negative consequences are rare.

"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.

Educating genetic counselors in Australia-developing a masters program.

In 2005 a publication about genetic counseling training in Australia recommended that a 2 year Masters program be established to better equip Australian genetic counselors with increased clinical skills and genetic knowledge (Sahhar et al. Journal of Genetic Counseling, 14(4), 283-294, 2005). A 2 year Masters program, it was argued, would increase the possibility of international reciprocity, thus increasing the employment opportunities for Australian trained genetic counselors overseas. In 2008 the first 2 year professional Masters program in Australia began at the University of Melbourne. The model for how this was achieved is discussed, along with the impact of the competencies developed by the Human Genetics Society of Australasia (Australia and New Zealand), on program evolution, teaching styles and clinical supervision. The principal challenges in developing the Masters program are explored and initiatives specific to SE Asia are discussed.

"Taking its toll": the challenges of working in fetal medicine.

BACKGROUND: Advances in genetic technologies have resulted in the diagnosis during pregnancy of increasing numbers of fetal abnormalities. A few published personal commentaries have indicated that health professionals' interactions with couples at risk of a fetal abnormality can be emotionally and ethically challenging, highlighting the need for empirical research in this area. This study sought to explore whether working in the fetal medicine setting has an effect on health professionals and to ascertain any supports used to manage these effects. METHODS: In-depth interviews were conducted with 40 medical and allied health professionals working in fetal medicine settings in Melbourne, Australia. Qualitative analysis of the interview data was performed using thematic analysis. RESULTS: Participants discussed at length the emotional impact of working with patients who were experiencing adverse pregnancy outcomes. All participants reported that working in fetal medicine had an impact on their daily lives, and many spoke about dreaming about or losing sleep over patient outcomes. Participants described working in this setting as being particularly difficult when they were pregnant themselves. Most spoke about feeling largely unsupported in their work and felt that these effects resulted in burnout and staff turnover. CONCLUSIONS: This study explored several work force concerns in fetal medicine. Health professionals working with couples at risk of a fetal abnormality are vulnerable to the phenomena of compassion fatigue and burnout. The need for formal support and self-care management is suggested.

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.

Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

We conducted a survey of physician opinions in relation to enzyme replacement therapy (ERT) and extended newborn screening (ENBS) for mucopolysaccharidoses (MPS). A questionnaire consisting of hypothetical clinical scenarios about ERT and ENBS for MPS was posted on metab-L, a list server for the metabolic community. The questionnaire included similar questions to those used in previous studies that sought the views of individuals and families affected by MPS. Our aim was to compare medical professionals' opinions with that of the individuals and families affected by MPS that they serve. The questionnaire was completed by 35 physicians, most of whom were metabolic physicians. Responses differed significantly between the physician and parent groups when the clinical scenario involved intellectual impairment. In this setting, physicians were significantly less inclined to advocate the use of ERT. Comparison of the responses to the ENBS scenarios revealed that compared to physicians, family of individuals with MPS were more inclined to desire diagnosis at birth, even if no treatment could alter the outcome of the condition. Compared to the family of individuals with MPS, physicians are more likely to advocate the use of ERT and ENBS where there is proven medical benefit to the affected individual.

"It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few studies have explored whether this type of work impacts on genetic counselors themselves. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding--that of the impact experienced by counselors from both countries while working when pregnant.

"Testing times, challenging choices": an Australian study of prenatal genetic counseling.

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.

Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families.

OBJECTIVES: To assess the opinions of individuals with mucopolysaccharidoses (MPS) and their parents regarding the use of enzyme replacement therapy (ERT). STUDY DESIGN: A validated questionnaire, including hypothetical clinical scenarios about ERT for MPS, was distributed to members of MPS support groups in the United States and Australia. RESULTS: The questionnaire was completed by 249 MPS support group members. Overall, 92% were in favor of ERT where MPS causes severe physical problems but does not affect intellect, and 69% were in favor of ERT where the physical limitations are mild and intellect is spared. Only 47% were in favor of ERT where severe physical and intellectual problems are well established; however, 77% were in favor of ERT in this situation if treatment begun early prolongs life and improves quality of life. CONCLUSION: Most respondents were in favor of ERT for MPS, even where it would not alter the intellectual deterioration. The medical community has a responsibility to advocate for their patients in situations where ERT is appropriate and recognize the economic burden and "family function burden" ERT can incur.

Genetic counselling for psychiatric disorders.

Family, adoption and twin studies demonstrate that many adult psychiatric disorders, including schizophrenia, major depression and bipolar disorder, have a clear genetic component. The aetiology of psychiatric disorders is a complex combination of both genetic and environmental components. While potential susceptibility genes for psychiatric disorders have been identified, interaction with the environment is a crucial component in disease development. Pharmacogenetics and genetic testing have the potential to play key roles in the future of clinical psychiatry. At present, an increased risk of psychiatric disorders can be identified through a detailed family history. The empirical risk of developing a disorder has been determined for many psychiatric disorders and can be used as a general guide. Genetic counselling can extend and enhance patient care by providing information to patients about the complexities of inheriting psychiatric disorders and the associated risks of recurrence. The genetic counselling process can facilitate informed decision making, alleviate misconceptions and reduce stigma through an improved understanding of the genetic cause of psychiatric disorders, and offer support to patients and their families.

Educating genetic counselors in Australia: developing an international perspective.

The demand for genetic counseling services is increasing worldwide. This paper highlights the Australian experience of genetic counselor education and the history of the profession. The relevance of local factors, including the health care system, the education system and the small population in the evolution of the 1-year training programs are considered as an alternative model for emerging programs. The development of the education and training processes compared to that of other countries namely the United States of America (USA), the United Kingdom (UK) and Canada is discussed. The importance of international collaborations between the programs, to facilitate academic discussion and possible curriculum innovations, and to maintain professional understanding between genetic counselors is emphasized. Core genetic counseling competencies have been published for the UK and USA and an Australian set is proposed. In conclusion future directions are considered, including international issues around genetic counseling certification, reciprocity, and the potential for an Australian role in training genetic counselors in South East Asia.

Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature.

Many studies have shown that, for families who are given the diagnosis of a disability, satisfaction with disclosure is an important element. Information given and the attitudes of the disclosing health professionals during this critical period have a significant effect on the coping and adaptation of the family. While most studies dealt with conditions involving intellectual disability or cancer, this study was conducted to explore parents' experience of being told that their child had a condition, such as a bone dysplasia, that would result in significant short stature. Semistructured interviews were conducted with 11 families who had children diagnosed with a bone dysplasia, specifically, achondroplasia (n = 9) and pseudoachondroplasia (n = 2). Families were recruited through the Bone Dysplasia Clinic at the Royal Children's Hospital, Victoria, Australia and via contact with the Short Statured People's Association of Victoria. Parents were asked about how they were told of their child's diagnosis, how they would have preferred to have been told, and what would have made the experience less distressing for them. Transcripts of the interviews were analyzed, and major themes were identified relating to the parents' experiences. Our data suggest that the manner in which the diagnosis is conveyed to the parents plays a significant role in their adjustment and acceptance. Provision of written information relating to the condition, possible medical complications, positive outlook for their child's future, and how to find social services and supports were some of the most significant issues for the parents. The multidisciplinary approach of the Bone Dysplasia Clinic was important to parents in the continued management of the families.