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.

"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.

'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.

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.

"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.

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.

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.

"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.

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.

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.

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.

"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.

"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.

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.

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.

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.

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.