Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints.
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Confidentiality↗
Biomedical subjects
Martin B Delatycki
Publications and source records attributed to Martin B Delatycki.
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previously, the gene associated with BFLS was localized to 17 Mb in Xq26-q27 (refs 2-4). We have reduced this interval to roughly 9 Mb containing more than 62 genes. Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS. Transient transfection studies with PHF6 tagged with green fluorescent protein (GFP) showed diffuse nuclear staining with prominent nucleolar accumulation. Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription.
Amino Acid Motifs↗
Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program.
PURPOSE: Tay Sachs disease is a recessively inherited neurodegenerative disorder, for which carrier screening programs exist worldwide. Education for those offered a screening test is essential in facilitating informed decision-making. In Melbourne, Australia, we have designed, developed, and evaluated a computer-based instructional resource for use in the Tay Sachs disease carrier screening program for secondary school students attending Jewish schools. The resource entitled "Genetics in the Community: Tay Sachs disease" was designed on a platform of educational learning theory. METHODS: The development of the resource included formative evaluation using qualitative data analysis supported by descriptive quantitative data. The final resource was evaluated within the screening program and compared with the standard oral presentation using a questionnaire. Knowledge outcomes were measured both before and after either of the educational formats. RESULTS: Data from the formative evaluation were used to refine the content and functionality of the final resource. The questionnaire evaluation of 302 students over two years showed the multimedia resource to be equally effective as an oral educational presentation in facilitating participants' knowledge construction. CONCLUSION: The resource offers a large number of potential benefits, which are not limited to the Tay Sachs disease carrier screening program setting, such as delivery of a consistent educational message, short delivery time, and minimum financial and resource commitment. This article outlines the value of considering educational theory and describes the process of multimedia development providing a framework that may be of value when designing genetics multimedia resources in general.
Adolescent↗
An international survey of predictive genetic testing in children for adult onset conditions.
PURPOSE: Predictive genetic testing is offered to asymptomatic adults even when there is no effective prophylaxis or treatment. Testing of young people in similar circumstances is controversial, and guidelines recommend against it. We sought to document descriptive examples of the occurrence of genetic testing in young people for nonmedical reasons, in the countries where guidelines exist. METHODS: Clinical geneticists in the USA, Canada, UK, Australia, and New Zealand were surveyed about the occurrence and outcomes of testing in asymptomatic young people for conditions where no prophylaxis or treatment exists and onset is usually in adulthood. RESULTS: Of 301 responses, details were provided of 49 cases where such testing had occurred. The most common condition tested for was Huntington Disease. In 22 cases (45%), the young person tested was immature, defined as under the age of 14 years. Results were disclosed to only two immature minors and in three cases parents experienced clinically significant anxiety related to how they would pass on information to their gene positive child. In 27 cases (55%), the young person tested was mature. Results were disclosed to 26 mature minors and it was reported that two individuals experienced an adverse event. Consistent follow-up did not take place and findings represent the minimum frequency of adverse events. The majority of respondents agree with existing guidelines but many believe each case must be considered individually. CONCLUSION: Clinicians agree with existing guidelines regarding predictive testing in young people, but choose to provide tests for nonmedical reasons in specific cases.
Adolescent↗
Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling.
PURPOSE: Tay Sachs disease carrier screening programs have been offered successfully worldwide since 1970. The programs typically offer education, testing, and counseling to provide reproductive choices. One such program has been offered to Jewish school students in Melbourne since 1998. In a time of increasing public awareness of genetics, programs require continuous evaluation and updating. METHODS: Over 2 successive years, a longitudinal evaluation involved students attending Jewish schools in Melbourne. Both qualitative and quantitative techniques were used to analyze alternative methods for education and sampling procedures. Comparisons involved (1) a computer-based resource versus an oral educational presentation and (2) blood sampling for enzyme and genetic testing versus cheekbrush testing for genetic sampling alone. RESULTS: The education session was effective in significantly increasing students' knowledge (10.5% +/- 1.2%, P < .0001) and decreasing their anxiety about being a carrier (-12.2% +/- 1.6%, P < .0001). For the students, no significant differences were found between the computer-based resource and oral presentation. There were significantly more students accepting a carrier test and anxiety was lower when a cheekbrush test was offered compared with when a blood test was offered. CONCLUSIONS: Computer-based instruction is equally effective, in addition to offering advantages of self-paced learning and minimization of human resources as an oral presentation within a genetic carrier screening program. Cheekbrush sampling is preferred to blood sampling and should be implemented into current practices for offering genetic screening programs. These results present alternatives to practices for genetic screening reflecting the current developing technology.
Adolescent↗
Retrospective analysis of patients attending a neurofibromatosis type 1 clinic.
AIM: To undertake a retrospective analysis of the patients who attended the neurofibromatosis type 1 clinic (NF clinic) at the Royal Children's Hospital, Melbourne between March 2001 and May 2004. From this analysis, we aimed to ascertain the frequency and nature of complications of NF1 in this cohort and compare this with other large series. METHODS: Genetic files and hospital records of patients who attended the NF clinic were reviewed. Data regarding the clinical features and NF1-related complications present in the patient population were entered into a database and then analysed. RESULTS: Data were available for 121 patients with presumed or confirmed diagnoses of NF1 who attended the NF clinic between the study dates. While most patients were referred to the clinic for 'routine surveillance', complications of NF1 were common. Forty-four per cent of patients had learning difficulties, 21% had optic gliomas and 17% had plexiform neurofibromas. Fifty-five per cent of those with plexiform neurofibromas required at least one surgical procedure. CONCLUSION: The NF clinic was accessed by patients of all ages to assist with diagnosis, provide routine surveillance and manage complex complications of NF1. The prevalence and range of complications of NF1 of the patients attending this clinic is similar to other large retrospective studies in tertiary centres.
Adolescent↗