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White S.M.,Genetic Health Services Victoria | White S.M.,Murdoch Childrens Research Institute | White S.M.,University of Melbourne | Fahey M.,Monash University
American Journal of Medical Genetics, Part A

Deafness and onychodystrophy is a presumed autosomal dominant condition previously reported in five families. We report on a three-generation family with three affected members with absent finger and toenails, finger-like thumbs, and severe sensorineural deafness. In the hands, the first and fifth digits had absent nails and bulbous swelling of the distal phalanx. The second, third, and fourth digits were relatively spared. In the feet, there were hypoplastic great toenails and absent nails on second to fifth toes. Intelligence was normal. In addition to deafness and onychodystrophy, other features in this family included subtle facial dysmorphism in two individuals, cutis aplasia in one individual, epilepsy in one individual, and sudden infant death in two family members, one of whom had deafness and onychodystrophy and one who did not. A full autopsy of both infants did not reveal a cause. SNP microarray analysis of one family member showed no evidence of copy number change. This family's condition fits within the spectrum of dominant deafness-onychodystrophy syndrome (DDOD) and further characterises this rare condition. © 2011 Wiley-Liss, Inc. Source

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

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. Source

Forrest L.,Murdoch Childrens Research Institute | Forrest L.,Australian National University | Forrest L.,University of Melbourne | Delatycki M.,Murdoch Childrens Research Institute | And 5 more authors.
Genetics in Medicine

Purpose: The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. Methods: A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. Results: The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. Conclusion: The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing. © 2012 American College of Medical Genetics. Source

Duncan R.E.,Murdoch Childrens Research Institute | Duncan R.E.,University of Melbourne | Gillam L.,Murdoch Childrens Research Institute | Savulescu J.,University of Oxford | And 5 more authors.
Familial Cancer

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. © 2009 Springer Science+Business Media B.V. Source

Forrest L.E.,Murdoch Childrens Research Institute | Forrest L.E.,University of Melbourne | Delatycki M.B.,Murdoch Childrens Research Institute | Delatycki M.B.,University of Melbourne | And 4 more authors.
American Journal of Medical Genetics, Part A

The communication of genetic information in families is an important process which can inform family members that they are at risk. However, evidence suggests that at-risk family members are often uninformed. Genetic health professionals have a role to assist consultands to communicate genetic information to their family members. Therefore, the aim of this study was to investigate genetic health professionals' practice with regard to the familial implications of a genetic diagnosis and subsequent family communication. An online survey resulted in 626 responses from genetic health professionals internationally. The results indicated that over 90% of genetic health professionals consistently counsel consultands about the familial implications of a genetic diagnosis during a consultation. Also there were no major differences in practice between clinical geneticists and genetic counselors. An average of 79% of genetic health professionals always send a summary letter to the consultand after a consultation. In contrast, 41% of genetic health professionals never write letters for at-risk family members. Other support is available to consultands after a consultation, but the availability of support relies on consultands and family members acting proactively and seeking out assistance from genetic health professionals for family communication. This may result in family members who are unaware that they are at risk of carrying and/or developing a genetic condition. This study is limited by the self-selection and self-reporting of the respondents' practice. © 2010 Wiley-Liss, Inc. Source

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