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Port Adelaide, Australia

Ratnayake P.,University of New South Wales | Ratnayake P.,Psychosocial Research Group PRG | Wakefield C.E.,Psychosocial Research Group PRG | Wakefield C.E.,University of New South Wales | And 7 more authors.
Familial Cancer

The responsibility for informing at-risk relatives of the availability of genetic testing for breast/ovarian cancer gene (BRCA1 or BRCA2) mutations currently falls on the probands. This study explored the support needs of individuals from families with identified BRCA1 or BRCA2 mutations when communicating about genetic risk and genetic testing with at-risk family members. Thirty-nine semi-structured telephone interviews were conducted with individuals from families with identified BRCA mutations. Interview responses were cross-tabulated by sample characteristics using the qualitative research analysis software NVivo8. The development of educational materials, which individuals could use when communicating the risks of carrying a BRCA gene mutation with their relatives, was identified as a specific need. Many participants expressed a preference for a staged approach, where relatives are notified of their increased risk and the availability of genetic testing risk either face-to-face or via a letter, with additional educational sources, including brief written information or access to a website, made available for those wishing to access more in-depth information. This research identified a need for the development of educational/informational resources to support individuals with identified breast/ovarian cancer mutations to communicate with their at-risk relatives about genetic risk and genetic testing availability. © 2010 Springer Science+Business Media B.V. Source

Brown N.M.K.,SA Clinical Genetics Service | Lui C.-W.,University of Queensland | Robinson P.C.,Thoracic Medicine | Boyle F.M.,University of Queensland
Supportive Care in Cancer

Purpose: Lung cancer patients report both high levels of unmet supportive care need and underutilisation of support services, but the existing literature offers limited understanding of their specific needs and preferences for help. This study aimed to address this research gap through qualitative exploration of the supportive care needs and preferences of lung cancer patients. Methods: Semi-structured interviews were conducted with ten lung cancer patients recruited from the Chest Clinic, Royal Adelaide Hospital (South Australia). Interviews particularly focussed on four key supportive care domains: medical information, physical symptoms, activities of daily living and emotional needs. Results: Participants reported low use of supportive care services and resources in all four domains. Verbal information from doctors was preferred over printed or online information, and upfront and honest communication was highly valued. Attitude was viewed as important for coping with physical symptoms. Participants demonstrated strong determination to manage activities of daily living independently and, when this was not possible, preferred to seek help from family over external organisations. Support groups and helplines were not utilised for a variety of reasons, although several benefits of connecting with fellow cancer patients were identified. Conclusions: The reasons behind underutilisation of supportive care services by lung cancer patients are more complex than simple lack of awareness or availability of services. Information about patients’ needs and preferences reveals opportunities for service improvement and alternative models of supportive care. © 2014, Springer-Verlag Berlin Heidelberg. Source

Wakefield C.E.,University of New South Wales | Wakefield C.E.,Center for Childrens Cancer and Blood Disorders | Ratnayake P.,Prince of Wales Hospital | Ratnayake P.,University of New South Wales | And 7 more authors.
Genetic Testing and Molecular Biomarkers

Context: Despite proven benefits, the uptake of genetic counseling and testing by at-risk family members of BRCA1 and BRCA2 mutation carriers remains low. Aims: This study aimed to examine at-risk individuals' reported reasons for and against familial cancer clinic (FCC) attendance and genetic testing. Methods: Thirty-nine telephone interviews were conducted with relatives of high-risk mutation carriers, 23% (n=9) of whom had not previously attended an FCC. Interview responses were analyzed using the frameworks of Miles and Huberman. Results: The reasons most commonly reported for FCC attendance were for clarification of risk status and to gain access to testing. While disinterest in testing was one reason for FCC nonattendance, several individuals were unaware of their risk (n=3) or their eligibility to attend an FCC (n=2), despite being notified of their risk status through their participation in a large-scale research project. Individuals' reasons for undergoing testing were in line with that reported elsewhere; however, concerns about discrimination and insurance were not reported in nontestees. Conclusions: Current guidelines regarding notifying individuals discovered to be at increased risk in a research, rather than clinical setting, take a largely nondirective approach. However, this study demonstrates that individuals who receive a single letter notifying them of their risk may not understand/value the information they receive. © Copyright 2011, Mary Ann Liebert, Inc. Source

Chiang P.-W.,Casey Eye Institute Molecular Diagnostic Laboratory | Wang J.,CAS Beijing Institute of Genomics | Chen Y.,CAS Beijing Institute of Genomics | Fu Q.,Zhejiang University | And 20 more authors.
Nature Genetics

Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G>A, p.Trp169*) and missense (c.769G>A, p.Glu257Lys) mutations in NMNAT1, which encodes an enzyme in the nicotinamide adenine dinucleotide (NAD) biosynthesis pathway implicated in protection against axonal degeneration. We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant. © 2012 Nature America, Inc. All rights reserved. Source

Dobson-Stone C.,Neuroscience Research Australia | Dobson-Stone C.,University of New South Wales | Luty A.A.,Neuroscience Research Australia | Luty A.A.,University of New South Wales | And 19 more authors.
Acta Neuropathologica

Numerous families exhibiting both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have been described and although many of these have been shown to harbour a repeat expansion in C9ORF72 several C9ORF72-negative FTD-ALS families remain. We performed neuropathological and genetic analysis of a large European Australian kindred (Aus-12) with autosomal dominant inheritance of dementia and/or ALS. Affected Aus-12 members developed either ALS or dementia; some of those with dementia also had ALS and/or extrapyramidal features. Neuropathology was most consistent with frontotemporal lobar degeneration with type B TDP pathology but with additional phosphorylated tau pathology consistent with corticobasal degeneration. Aus-12 DNA samples were negative for mutations in all known dementia and ALS genes including C9ORF72 and FUS. Genome-wide linkage analysis provided highly suggestive evidence (maximum multipoint LOD score of 2.9) of a locus on chromosome 16p12.1-16q12.2. Affected individuals shared a chromosome 16 haplotype flanked by D16S3103 and D16S489 spanning 37.9 Mb with a smaller suggestive disease haplotype spanning 24.4 Mb defined by recombination in an elderly unaffected individual. Importantly this smaller region does not overlap with FUS. Whole-exome sequencing identified four variants present in the maximal critical region that segregate with disease. Linkage analysis incorporating these variants generated a maximum multipoint LOD score of 3.0. These results support the identification of a locus on chromosome 16p12.1-16q12.2 responsible for an unusual cluster of neurodegenerative phenotypes. This region overlaps with a separate locus on 16q12.1-q12.2 reported in an independent ALS family indicating that this region may harbour a second major locus for FTD-ALS. © 2013 The Author(s). Source

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