Genetic Health Services Victoria


Genetic Health Services Victoria

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Stark Z.,Genetic Health Services Victoria | Stark Z.,Murdoch Childrens Research Institute | Massie J.,Murdoch Childrens Research Institute | Massie J.,Royal Childrens Hospital | And 10 more authors.
Twin Research and Human Genetics | Year: 2013

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally. © The Authors 2013.

Ioannou L.,Murdoch Childrens Research Institute | Ioannou L.,Monash University | Massie J.,Royal Melbourne Hospital | Massie J.,University of Melbourne | And 14 more authors.
Clinical Genetics | Year: 2010

A screening programme for Tay Sachs disease (TSD) carrier status was introduced in high schools in Victoria, Australia in 1997, and was expanded to screen for six other genetic conditions common in the Ashkenazi Jewish population in 2008. The aim of this study was to evaluate the current programme and compare it with an evaluation of the programme when screening was offered for TSD alone. All students from Jewish high schools in Melbourne who offered the programme in 2009 were invited to participate in the study. A purpose-designed questionnaire explored the following domains: knowledge (disease and genetics), reasons for screening, anxiety, and predicted negative feelings if found to be a carrier. Two hundred and seventy-three students were offered screening, and 272 (99.6%) completed the questionnaire. Only two students chose not to have screening. Two hundred and seventy-one students were in the penultimate year of high school (99.6%) and 222 were of Ashkenazi Jewish descent (82.5%). The main reasons for choosing screening were the desire to know carrier status and convenience. Knowledge level decreased and negative feelings increased in the current cohort compared to that when screening was offered for TSD alone. We conclude that the current programme is efficient, although increasing the number of conditions resulted in a decrease in knowledge and increase in predicted negative feelings if found to be a carrier of one of the conditions. This has implications for multi-disease screening programmes that will increase in frequency as more conditions can be screened for and costs diminish. © 2010 John Wiley & Sons A/S.

Storey E.,Monash University | Gardner R.J.M.,Genetic Health Services Victoria
Handbook of Clinical Neurology | Year: 2011

Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. Six pedigrees have been reported to date, in Anglo-Celtic and Japanese populations. Other than notably slow progression, its main distinguishing characteristic is tremor, often affecting the head, which is seen in about half of affecteds and which may be the presenting feature. Neuroradiology shows cerebellar atrophy, particularly affecting the anterior and dorsal vermis. SCA15 is due to various deletions of the inositol 1,4,5-triphosphate receptor 1 gene (ITPR1) on the distal short arm of chromosome 3. The potential of point mutations in ITPR1 to cause SCA15 is not yet confirmed. "SCA16" has now been shown to be due to an ITPR1 mutation, and has now been subsumed into SCA15. © 2012 Elsevier B.V.

Storey E.,Monash University | Gardner R.J.M.,Genetic Health Services Victoria
Handbook of Clinical Neurology | Year: 2011

Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. It is characterized by dentate calcification from an early stage of the illness. Dysarthria without ataxia is the first symptom in the majority - an unusual feature amongst the SCAs. In addition to ataxia, examination often reveals spasmodic dysphonia and palatal tremor, but the syndrome is otherwise fairly pure. The responsible genetic abnormality has been tentatively identified as a 260-kb duplication in the pericentric region of chromosome 11, but confirmation will necessarily await description of further families. © 2012 Elsevier B.V.

Wakefield C.E.,Prince of Wales Hospital | Wakefield C.E.,University of New South Wales | Watts K.J.,Prince of Wales Hospital | Watts K.J.,University of New South Wales | And 13 more authors.
Patient Education and Counseling | Year: 2011

Objective: This study aimed to develop and pilot test an online screening decision aid (DA) for men with a family history of prostate cancer. Methods: Eligible men (with no previous prostate cancer diagnosis) were recruited through relatives attending a urology outpatient clinic. Men evaluated the DA in two stages. First, they appraised a paper-based version using a questionnaire (n= 22). Second, the same men were asked to reflect on an interactive web-based version via a semi-structured telephone interview (n= 20). Results: Men evaluated both forms of the DA positively. Of the paper-based version, the majority of participants found the DA useful (91%), and that it contained enough information to make a screening decision (73%). All participants reported that the online DA was easy to use and navigate. Most participants reported that a website was their preferred mode of receiving prostate cancer screening information (70%). Conclusion: The developed DA may represent the first online decision-making tool designed specifically for men with a family history prostate cancer that presents age and risk specific information to the user. Practice implications: Comprehensive evaluations of the efficacy and impact of educational interventions such as this are crucial to improve services for individuals making informed screening decisions. © 2010 Elsevier Ireland Ltd.

Fukuzawa R.,University of Otago | Fukuzawa R.,Tokyo Metropolitan Kiyose Childrens Hospital | Holman S.K.,University of Otago | Chow C.W.,Royal Melbourne Hospital | And 5 more authors.
Journal of Medical Genetics | Year: 2010

Background: Somatic mutations in the X-linked tumour suppressor gene WTX have been observed in 6- 30% of sporadic cases of Wilms tumour. Germline mutations in the same gene cause the sclerosing skeletal dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS). No evidence points towards a susceptibility to the development of tumours in individuals with OSCS, suggesting that there are unrecognised additional determinants that influence the phenotypic outcome associated with germline mutations in WTX. One explanation may be that a somatic mutation in WTX may need to occur late in tumour development to contribute to tumourigenesis. Methods: Here a panel of four sporadic Wilms tumours with associated nephrogenic rest tissue and characterised WTX and CTNNB1 mutations is studied to ascertain the temporal sequence of acquisition of these mutations. Additionally, a family with OSCS is described segregating a germline mutation in WTX and manifesting a lethal phenotype in males. One male from this family had bilateral multifocal nephrogenic rests at autopsy. Results: In one of the four tumours the WTX mutation was present in both tumour and rest tissue indicating it had arisen early in tumour development. In the remaining three tumours, the WTX mutation was present in the tumour only indicating late acquisition of these mutations. Conclusions: These data indicate that WTX mutations can arise both early and late in Wilms tumour development. WTX mutations may predispose to nephrogenic rest development rather than Wilms tumour per se.

Massie J.,Royal Melbourne Hospital | Massie J.,University of Melbourne | Curnow L.,Genetic Health Services Victoria | Gaffney L.,Genetic Health Services Victoria | And 4 more authors.
Archives of Disease in Childhood | Year: 2010

Objectives: Newborn screening for cystic fibrosis (CF) facilitates early diagnosis and genetic counselling for parents of affected infants. Many parents elect to use prenatal testing for subsequent pregnancies, and this may affect the prevalence of CF. The aim of this study was to assess the evidence for changes in the live-birth prevalence of CF since the introduction of newborn screening for CF. Methods: The authors reviewed the records of the Victorian newborn screening programme and the clinical records of the three centres caring for patients with CF in Victoria, Australia, in order to determine the live-birth prevalence of patients with CF; before (1979-1988) and after (1989-2006) the introduction of newborn screening. The authors reviewed the records of the Victorian Clinical Genetics Service to ascertain the number and outcome of prenatal tests for CF (1979-2006). Live births in Victoria were obtained from the state birth register. Findings: Between 1979 and 1988, the live-birth prevalence of CF was 3.96 (95% CI 3.48 to 4.49) per 10 000 live births. Following the introduction of newborn screening (1989-2006) the live-birth prevalence of CF was 3.28 (95% CI 2.97 to 3.63) per 10 000 live births, representing a reduction of 17% (95% CI 2% to 29%, p=0.025). In the prescreening period, there were 10 prenatal tests, which identified three affected pregnancies, all of which were terminated. In the later period, there were 304 prenatal tests (mean 17/year), of which 76 were affected, and 70 of these pregnancies were terminated. Conclusion: The authors observed a modest reduction in the live-birth prevalence of CF since the introduction of newborn screening. This is principally due to at-risk couples detected by newborn screening electing to use prenatal testing on subsequent pregnancies.

Eastaugh L.J.,Royal Childrens Hospital | James P.A.,Murdoch Childrens Research Institute | James P.A.,University of Melbourne | Phelan D.G.,Murdoch Childrens Research Institute | And 4 more authors.
Journal of Cardiovascular Electrophysiology | Year: 2011

SCN5A deletion only detected by MLPA. A 14-year-old boy presented with atrial flutter. His ECG showed Brugada changes, first-degree AV block and major sinus pauses. Polymorphic VT was inducible at electrophysiology study. A pacemaker defibrillator was placed. Classic sequencing for SCN5A was normal. Multiplex ligation-dependent probe amplification, however, detected a major deletion in SCN5A. It is predicted that this deletion would result in haploinsufficiency. The report is the first description of a large-scale rearrangement of the SCN5A gene and supports the association between the molecular pathology and the phenotypic expression. © 2011 Wiley Periodicals, Inc.

Freedman R.,University of Melbourne | Sahhar M.,University of Melbourne | Sahhar M.,Genetic Health Services Victoria | Curnow L.,Genetic Health Services Victoria | And 4 more authors.
Journal of Genetic Counseling | Year: 2013

Medical intervention for lysosomal storage disorders becomes part of life, shaping the reality of the condition for affected individuals and families. Enzyme replacement therapy (ERT) is available to treat some lysosomal storage disorders. ERT is costly and time consuming, requiring frequent hospital visits to receive intravenous infusions. This qualitative study sought to explore the impact of receiving ERT for a lysosomal storage disorder on the health related quality of life (HRQoL) of young patients and their families. Fifteen semi-structured interviews were conducted with young people and parents and siblings of young people accessing ERT for Pompe disease, Gaucher disease or mucopolysaccharidosis types I or II living in Victoria, Australia. Interviews were transcribed then analyzed thematically. The biopsychosocial model assisted in interpreting themes. Findings revealed positive attitudes towards ERT, with noticed improvements in physical and psychosocial well-being. Participants prioritised intervention over other activities and provided suggestions for improving current service delivery. Communication with family members and professionals was deemed important, especially in respect to information provision. Participants described challenges associated with living with a lysosomal storage disorder and receiving ERT and coping strategies, such as positive thinking and ways to manage uncertainty. These findings provide valuable insights into the impact of living with a chronic genetic condition and receiving intensive treatment on HRQoL. © 2013 National Society of Genetic Counselors, Inc.

PubMed | Genetic Health Services Victoria
Type: Journal Article | Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology | Year: 2016

9624 Background: Lifetime cancer burden is significant for men and women with HNPCC. In addition to cancers of other sites women with HNPCC are estimated to have a 40-60% lifetime risk of developing uterine cancer and an up to 10% lifetime risk of developing ovarian cancer.Cancer diagnoses of Australian (Victorian) women with HNPCC were reviewed to determine the frequency of cancer and the frequency of gynaecological compared to other cancer diagnoses. Female mutation carriers were identified from Familial Cancer Centre database records. From pedigrees first degree female relatives of mutation positive females who had been diagnosed with HNPCC related cancers, and female obligate HNPCC mutation carriers were also identified. Verified cancer diagnoses of these women were recorded.107 women from 50 families were included. Twenty-four women (22%) belonged to families with an MLH1 mutation, 79 (74%) to families with an MSH2 mutation and 4 (4%) had MSH6 mutations. Twenty-three women (21%) were unaffected by cancer at a median age of 37 years (range 20-88 years). Only five of these were over 40 years of age. Of the women diagnosed with cancer (N=84 or 79%), 50/84 (60%) had colorectal cancer with a median age at first diagnosis of 39 years (range 29-80 years); 32/84 (38%) had CRC only. Thirty-six of 84 (43%) had a gynaecological cancer; 29/84 (35%) had endometrial cancer diagnosed at a median age of 51 (range 39-71 years) and 5/84 (6%) had ovarian cancer (all diagnosed < 50 years of age).Twenty of 84 women with cancer (23%) had a gynaecological cancer alone (15 endometrial, 5 ovarian). Fifteen of 84 women (18%) had both CRC and uterine cancer. Twelve of 107 women (11%) had had prophylactic hysterectomy and oophorectomy. Of 84 women diagnosed with cancer 23 (27%) had more than one cancer and 11 (13%) had 3 or more. Of those with cancer 10 (12%) had breast cancer, 5 (6%) had stomach cancer, 3 (4%) had small bowel cancer, 3 (4%) had transitional cell carcinomas of the urinary tract, 4 (5%) had Muir Torre syndrome and 1 (1%) had a primary brain tumour.Cancer burden in women with HNPCC is significant due to the combination of gynaecological cancers, as well as CRC and cancers of other sites; however CRC remains the commonest primary cancer site. No significant financial relationships to disclose.

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