Publications by authors named "Maryanne Aitken"

30 Publications

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Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.

Eur J Hum Genet 2016 Mar 1;24(3):356-60. Epub 2015 Jul 1.

Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.

When an inherited genetic condition is diagnosed in an individual it has implications for other family members. Privacy legislation and ethical considerations can restrict health professionals from communicating directly with other family members, and so it is frequently the responsibility of the first person in a family to receive the diagnosis (the proband) to share this news. Communication of genetic information is challenging and many at-risk family members remain unaware of important information that may be relevant to their or their children's health. We conducted a randomised controlled trial in six public hospitals to assess whether a specifically designed telephone counselling intervention improved family communication about a new genetic diagnosis. Ninety-five probands/parents of probands were recruited from genetics clinics and randomised to the intervention or control group. The primary outcome measure was the difference between the proportion of at-risk relatives who contacted genetics services for information and/or genetic testing. Audit of the family genetic file after 18 months revealed that 25.6% of intervention group relatives compared with 20.9% of control group relatives made contact with genetic services (adjusted odds ratio (OR) 1.30, 95% confidence interval 0.70-2.42, P=0.40). Although no major difference was detected overall between the intervention and control groups, there was more contact in the intervention group where the genetic condition conferred a high risk to offspring (adjusted OR 24.0, 95% confidence interval 3.4-168.5, P=0.001). The increasing sophistication and scope of genetic testing makes it imperative for health professionals to consider additional ways of supporting families in communicating genetic information.
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http://dx.doi.org/10.1038/ejhg.2015.122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755371PMC
March 2016

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

BMC Med Genet 2014 Mar 14;15:33. Epub 2014 Mar 14.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

Background: Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.

Methods: This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.

Discussion: This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.

Trial Registration: Australia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.
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http://dx.doi.org/10.1186/1471-2350-15-33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995589PMC
March 2014

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing.

Genet Med 2013 Jul 24;15(7):533-40. Epub 2013 Jan 24.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

Purpose: Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing.

Methods: Parents were interviewed about communicating the genetic information and also asked to recruit their relatives to receive a specifically developed questionnaire.

Results: Thirty parents were interviewed and addresses of 284 relatives were provided; completed questionnaires were received from 225 (79%). A relative's relationship to the child, as well as knowledge, is associated with having had carrier testing. Relatives' reasons for testing included curiosity and wanting information for other relatives and for reproductive planning. Reasons for not testing were perceived irrelevance, lacking awareness, and viewing it as something to do in the future. Parents communicated the genetic information to relatives in various ways, which contributed to whether relatives accessed carrier testing.

Conclusion: Newborn screening programs should provide support to parents to aid communication of genetic information to relatives. (Ir)relevance of testing is often linked to life stage; ongoing support and communication may allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.
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http://dx.doi.org/10.1038/gim.2012.175DOI Listing
July 2013

Why do people choose not to have screening for hemochromatosis?

Genet Test Mol Biomarkers 2013 Jan 25;17(1):21-4. Epub 2012 Oct 25.

Murdoch Childrens Research Institute, Parkville, Australia.

Aim: Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution. A workplace-screening program was conducted in which over 11,000 individuals were screened for this mutation. A substudy of this project was to ascertain why people chose not to attend information and screening sessions offered in their workplace.

Method: Staff were recruited by email, questionnaires in common areas, and direct approach. A purpose-designed questionnaire sought the reasons for not attending information and screening sessions.

Results: The nonattender questionnaire was distributed at 24 workplaces and completed by 872 individuals. The most common reason for not attending sessions, accounting for 70.1%, was practical (e.g., unaware of session, too busy, or unavailable). Other relatively common reasons were that the individual had low iron levels or were a blood donor (14.9%), or that hemochromatosis was considered unimportant (12.2%). Insurance concerns were very rarely cited as the reason for nonattendance (1.0%).

Conclusion: The nonattender data presented here indicate that concerns about insurance, anxiety, and use of genetic information are not major factors for why people did not attend workplace information and screening sessions for hereditary hemochromatosis. Practical barriers were the major reasons identified. This highlights that when implementing screening programs, as many practical barriers as possible need to be overcome, so that a maximum number of people who would like to be informed about screening are given the opportunity to do so.
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http://dx.doi.org/10.1089/gtmb.2012.0247DOI Listing
January 2013

Research performance evaluation: the experience of an independent medical research institute.

Aust Health Rev 2012 May;36(2):218-23

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Background: Evaluation of the social and economic outcomes of health research funding is an area of intense interest and debate. Typically, approaches have sought to assess the impact of research funding by medical charities or regional government bodies. Independent research institutes have a similar need for accountability in investment decisions but have different objectives and funding, thus the existing approaches are not appropriate.

Methods: An evaluation methodology using eight indicators was developed to assess research performance across three broad categories: knowledge creation; inputs to research; and commercial, clinical and public health outcomes. The evaluation approach was designed to provide a balanced assessment across laboratory, clinical and public health research.

Results And Discussion: With a diverse research agenda supported by a large number of researchers, the Research Performance Evaluation process at the Murdoch Childrens Research Institute has, by necessity, been iterative and responsive to the needs of the Institute and its staff. Since its inception 5 years ago, data collection systems have been refined, the methodology has been adjusted to capture appropriate data, staff awareness and participation has increased, and issues regarding the methodology and scoring have been resolved.

Conclusions: The Research Performance Evaluation methodology described here provides a fair and transparent means of disbursing internal funding. It is also a powerful tool for evaluating the Institute's progress towards achieving its strategic goals, and is therefore a key driver for research excellence.
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http://dx.doi.org/10.1071/AH11057DOI Listing
May 2012

An audit of clinical service examining the uptake of genetic testing by at-risk family members.

Genet Med 2012 Jan;14(1):122-8

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.

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.
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http://dx.doi.org/10.1038/gim.2011.3DOI Listing
January 2012

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Eur J Hum Genet 2012 May 11;20(5):505-9. Epub 2012 Jan 11.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are critical, unanswered questions. This study aimed to assess the acceptability and feasibility of genetic screening for preventable disease, using the model of hereditary haemochromatosis, in high-school students. Screening was offered for the HFE C282Y substitution to 17,638 students. Questionnaires were administered at the time of screening (Q1) and approximately 1 month after results were communicated (Q2). Outcomes assessed were uptake of screening, change in scores of validated anxiety, affect and health perception scales from Q1 to Q2, knowledge and iron indices in C282Y homozygous individuals. A total of 5757 (32.6%) students had screening and 28 C282Y-homozygous individuals (1 in 206) were identified, and none of the 27 individuals who had iron indices measures had significant iron overload. There was no significant change in measures of anxiety, affect or health perception in C282Y homozygous or non-homozygous individuals. Over 86% of students answered each of five knowledge questions correctly at Q1. Genetic population-based screening for a preventable disease can be offered in schools in a way that results in minimal morbidity for those identified at high risk of disease. The results of this study are not only relevant for haemochromatosis, but for other genetic markers of preventable disease such as those for cardiovascular disease and cancer.
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http://dx.doi.org/10.1038/ejhg.2011.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330225PMC
May 2012

"Did you find that out in time?": new life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely.

Am J Med Genet A 2012 Feb 2;158A(2):373-83. Epub 2011 Dec 2.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

The availability of tests to detect genetic conditions prenatally has expanded considerably in recent decades. These advances allow women and couples choices; the choice of whether or not to undergo prenatal screening or diagnosis and therefore the choice whether to continue or terminate a pregnancy. Following prenatal testing many people choose to terminate an affected pregnancy, however little is known about the experiences of parents who choose to continue such a pregnancy. This exploratory qualitative study involved in-depth interviews with five mothers and four fathers who experienced a pregnancy where a genetic diagnosis was, or could have been, detected prenatally. Transcripts of the interviews were analyzed using thematic analysis. While the participants' experiences of genetic diagnoses and prenatal choices varied, findings revealed three major categories triggering new life trajectories for all of these parents: knowledge of reproductive risk and receiving a genetic diagnosis; adapting to diagnosis and new life path; and attitudes to prenatal diagnosis and disability. Parents reported that while dealing with their own attitudes and getting on with their "new world," positive and negative attitudes of others impacted on these parents' experiences. A conceptual model arising from the major themes is offered as a way of thinking about this paradigm. Parents who continue a pregnancy where a genetic condition is detected or suspected prenatally, can be supported appropriately by health professionals while adjusting to their new life path.
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http://dx.doi.org/10.1002/ajmg.a.34399DOI Listing
February 2012

A case for cystic fibrosis carrier testing in the general population.

Med J Aust 2011 Feb;194(4):208-9

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http://dx.doi.org/10.5694/j.1326-5377.2011.tb03781.xDOI Listing
February 2011

Development of a questionnaire for evaluating genetics education in general practice.

J Community Genet 2010 Dec 16;1(4):175-83. Epub 2010 Oct 16.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, 3052, VIC, Australia.

To support developments in genetics education, we constructed the GPGeneQ questionnaire to assess skills required for the practice of genetics by general practitioners (GPs). We describe the process of developing and validating this questionnaire to provide a detailed guide in the construction for questionnaires in the application of evaluating genetics education. The GPGeneQ was developed through a multi-step process with the initial draft based on a theoretical framework and literature review. The subsequent draft instrument contained three scales pertaining to GPs' knowledge, self-reported behaviour and attitudes regarding genetics in medicine. Content and ecological validity were measured by an iterative Delphi process involving experts, GPs and consumers of health services. Piloting to assess construct and criterion validity was conducted with a sample of GPs attending an educational workshop that was presented on a number of separate occasions in Victoria, Australia. Results from evaluations of 145 GPs participating in ten workshops revealed evidence for validity and reliability of the GPGeneQ: knowledge change (p < 0.001; CI, -1.63 to -0.68), behaviour change (p < 0.001; CI, -4.15 to -2.21), attitudinal change (p = 0.002; CI, -2.68 to -0.62). This paper details the procedures involved in developing and validating an assessment questionnaire for genetics education. The GPGeneQ is the first validated questionnaire covering a broad range of topics that is designed to provide a reliable measure for the evaluation of genetics education specifically in general practice. The procedures used are transferable to the construction of any instrument for use in genetics or other medical education.
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http://dx.doi.org/10.1007/s12687-010-0027-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185998PMC
December 2010

"It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

J Genet Couns 2010 Dec 24;19(6):640-52. Epub 2010 Jul 24.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

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. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding--that of the impact experienced by counselors from both countries while working when pregnant.
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http://dx.doi.org/10.1007/s10897-010-9315-zDOI Listing
December 2010

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

Eur J Hum Genet 2010 Oct 26;18(10):1084-9. Epub 2010 May 26.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been previously described, and this study describes uptake by both parents and adult non-parent relatives in Victoria, Australia. Pedigrees were taken from parents of children who were born in 2000-2004 and diagnosed with CF. A total of 40 families were eligible for the study and 30 (75%) were recruited. In all, 716 non-parent relatives were identified from the pedigrees as eligible for carrier testing, and 82 (adjusted uptake percentage: 11.8%; 95% confidence interval 8.0-15.7) have had carrier testing by March 2009. On average, 2.7 non-parent relatives per family had CF carrier testing after diagnosis through NBS. The odds of being tested were greater for females than males (adjusted odds ratio 1.61; 95% confidence interval 1.11-2.33; P=0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38-11.24; P<0.001). Most relatives who undergo testing are tested immediately after the baby's diagnosis; however, some testing is undertaken up to 8 years later. These results indicate that in a clinical setting, the diagnosis of a baby with CF by NBS does not lead to carrier testing for the majority of the baby's non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.
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http://dx.doi.org/10.1038/ejhg.2010.78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987447PMC
October 2010

Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation.

Am J Med Genet A 2010 Jun;152A(6):1458-66

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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.
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http://dx.doi.org/10.1002/ajmg.a.33385DOI Listing
June 2010

Consumer contribution to the delivery of genetic health services.

Am J Med Genet A 2008 Sep;146A(17):2266-74

Department of Paediatrics, Genetics Education and Health Research, Murdoch Childrens Research Institute, The University of Melbourne, Parkville, Australia.

Clinical genetics services have been the focus of evaluation and guidelines since the 1970s. In this study we used consumer satisfaction as the evaluative measure with the aim being to seek feedback from consumers of a genetics service to inform quality measures for client-centered genetic services. In the first phase of the study issues were identified by consumers and health professionals around delivering genetics services and the priorities ranked into five themes: expectations, information, respect, privacy and logistics. These themes then formed the basis of a questionnaire that was distributed to consumers of a genetics service in Victoria, Australia. Three hundred ninety-seven out of 821 questionnaires were completed (49.8% response rate). More than 85% of consumers were satisfied in the theme of expectations, with the only issue being waiting times for genetic test results (68.6% satisfied). Over 83% of consumers were satisfied with the information received from the genetics service. The matter of interruptions during appointments was the only area in the theme of respect that rated less than 80% satisfactory (79.1%). In relation to privacy, consumers rated over 95% satisfaction. Logistics was the theme where satisfaction was lowest with ratings of less than 75% for issues such as availability of public transport to the clinic, parking and wheelchair access. Consumer satisfaction was related to the information received before and after consultations and also to the attitudes and behaviors of health professionals. These findings have implications for genetics services both in Australia and internationally and recommendations from the findings are outlined.
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http://dx.doi.org/10.1002/ajmg.a.32271DOI Listing
September 2008

Health first, genetics second: exploring families' experiences of communicating genetic information.

Eur J Hum Genet 2008 Nov 21;16(11):1329-35. Epub 2008 May 21.

Genetics Education and Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

Genetic information may have health and reproductive implications for the proband and their family members. The responsibility for communicating this information within families generally lies with the proband or consultand. Previous research has explored the barriers and facilitators to communication, particularly in families affected with familial cancer syndromes. This study is an exploration of families' experiences, which aims to elucidate the process of communicating genetic information in families affected with non-cancer genetic conditions. The methodology involved 12 semi-structured interviews with probands, consultands and their family members. There were six different genetic conditions present in the families: adrenoleukodystrophy (n=3), cystic fibrosis (n=3), fragile X syndrome (n=1), haemochromatosis (n=1), balanced reciprocal chromosomal translocation (n=3) and Robertsonian chromosomal translocation (n=1). The results presented arise from two key themes, (1) the diagnosis and (2) post diagnosis. The interview data illustrate that the time of the diagnosis is a traumatic experience for families and that communication stimulated by this event revolves around informing family members about the diagnosis, but not warning them of their genetic risk. Post diagnosis, the collection of information about the genetic condition and continued communication to more distant family members, often using pre-existing family communication patterns, enables the continuation of communication about the genetic condition.
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http://dx.doi.org/10.1038/ejhg.2008.104DOI Listing
November 2008

The importance of program evaluation: how can it be applied to diverse genetics education settings?

J Genet Couns 2008 Apr 5;17(2):170-9. Epub 2008 Feb 5.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

The role of a genetic counselor often entails providing education to patient, community and/or health professional groups. While counseling supervision assists genetic counselors to be reflective about their clinical work and to enhance clinical skills, evaluation is a rather analogous process in the provision of education. Program evaluation of education activities can be applied to provide information about the needs of the target group (needs assessment), the delivery of the program (process evaluation) as well as determining the extent to which the education activity has met its intended aims (summative evaluation). Evaluation assists the educator to assess the impact of their program and provides an evidence base about genetics education. Although program evaluation can be a complex activity, the tools are ones that can be used by individuals to evaluate single or simple education activities. The components of evaluation are discussed with reference to genetic counseling practice and three very different examples of actual evaluations are provided to illustrate the diversity of evaluation strategy and programs to which it can be applied.
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http://dx.doi.org/10.1007/s10897-007-9138-8DOI Listing
April 2008

'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening.

Eur J Hum Genet 2008 Apr 5;16(4):435-44. Epub 2007 Dec 5.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

Carrier screening for cystic fibrosis has been recommended for pregnant women and their partners, individuals and couples prior to conception, and for people with a family history. Many pilot programmes offering cystic fibrosis carrier screening, most commonly in the prenatal setting, have shown that uptake and acceptability are high. This article explores perspectives of the Victorian community regarding carrier screening for cystic fibrosis prior to offering screening. In particular whether or not such carrier screening should be offered, the best time for offering carrier screening, the information required for making a decision about carrier screening, and how this information can best be provided. A qualitative approach was taken to enable exploration of the views of stakeholders. Four focus groups and 32 interviews were conducted with a total of 68 participants. Participants were in agreement that cystic fibrosis carrier screening should be made available to everyone. However, potential consumers viewed cystic fibrosis carrier screening as 'not in my world' and were unlikely to request such screening unless it was offered by a health professional, or they had a family history. The best time for carrier screening was seen to be an individual preference and an information brochure was perceived to be useful when considering carrier screening. Lack of knowledge around the irrelevance of family history is a barrier to cystic fibrosis carrier screening. This study highlights the importance of community consultation, with stakeholders, prior to implementation of carrier screening programmes.
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http://dx.doi.org/10.1038/sj.ejhg.5201965DOI Listing
April 2008

A model for the development of genetics education programs for health professionals.

Genet Med 2007 Jul;9(7):451-7

Genetic Health Services Victoria, Parkville, Australia.

Purpose: The need for education programs to facilitate the integration of genetics into health practice is well recognized. The inclusion of education as an aspect of genetics policy and the establishment of national bodies for genetics education extend program development beyond ad hoc programs conducted by individual practitioners. A framework for the development of an effective program is required that has a strong theoretic basis and incorporates rigorous evaluation.

Methods: Relevant aspects of three theories that can inform genetics education programs are described: program logic modeling, adult learning theory, and evaluation theory. These are drawn on to develop a framework for the development and implementation of genetics education programs for health professionals and concurrent evaluation.

Results: The utility of the framework is demonstrated in the development and implementation of "The Genetics File" program, a multifaceted program for general practitioners, comprising an enduring print resource and interactive workshop. The evaluation strategy developed is also documented.

Conclusions: Program logic, adult learning theory, and evaluation theory together provide a useful and relevant theoretic framework for the development of genetics education programs for health professionals.
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http://dx.doi.org/10.1097/gim.0b013e3180a6eb69DOI Listing
July 2007

Communicating genetic information in families--a review of guidelines and position papers.

Eur J Hum Genet 2007 Jun 28;15(6):612-8. Epub 2007 Mar 28.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.

This article aims to review ethical and clinical guidelines and policies addressing the communication of genetic information in families. Websites of national and regional bioethics committees, national human genetics societies, international health organisations, genetic interest groups and legal recommendations committees were searched for guidelines and policies. The databases Medline, Web of Science and Google Scholar were also utilised to search for additional guidelines relating to the communication of genetic information in families. The guidelines and policies included in this review are limited to those available in English. The search resulted in guidelines from 18 international, regional and national organisations from six countries pertaining to family communication of genetic information. The following ideals were common in their guidelines: (1) individuals have a moral obligation to communicate genetic information to their family members; (2) genetic health professionals should encourage individuals to communicate this information to their family members; and (3) genetic health professionals should support individuals throughout the communication process. The difference between the organisations' guidelines was the inclusion of information about the role of the health professional in supporting clients during the process of communicating genetic information to their family members. Only two recommendations suggested that the health professional should support their clients by identifying at-risk family members, but more guidelines recommended that directive counselling should be undertaken to encourage clients to communicate genetic information to their family members. In conclusion, the guidelines provide an overview of the role that genetic health professionals may undertake; however, there are gaps that need to be addressed.
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http://dx.doi.org/10.1038/sj.ejhg.5201822DOI Listing
June 2007

It's "back to school" for genetic screening.

Eur J Hum Genet 2006 Apr;14(4):384-9

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

Implementation of population genetic screening programmes requires consideration of strategies for reaching the greatest proportion of the target population in order to achieve maximum awareness. This article reviews the current strategy of school-based population genetic screening programmes. The school environment is an ideal setting for offering relevant genetic screening programmes as it provides an opportunity to engage people at a time when they are exposed to a range of educational experiences and are sufficiently mature to be involved in decision-making processes. Such programmes allow all students, not only those studying biology, an opportunity to be educated and experience genetic screening in a supportive environment, ultimately increasing understanding and empowering students. While the major form of genetic screening in schools has been for reproductive health information (eg carrier screening for TaySachs disease and cystic fibrosis), genetic screening in schools for other conditions may be a timely proposition.
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http://dx.doi.org/10.1038/sj.ejhg.5201581DOI Listing
April 2006

Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling.

Genet Med 2005 Nov-Dec;7(9):626-32

Murdoch Childrens Research Institute, Bruce Lefroy Centre for Genetic Health Research, Department of Paediatrics, University of Melbourne, Royal Children's Hospital.

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.
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http://dx.doi.org/10.1097/01.gim.0000187162.28070.a7DOI Listing
June 2006

Harry Potter and the recessive allele.

Nature 2005 Aug;436(7052):776

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http://dx.doi.org/10.1038/436776aDOI Listing
August 2005

Educating genetic counselors in Australia: developing an international perspective.

J Genet Couns 2005 Aug;14(4):283-94

Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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. The development of the education and training processes compared to that of other countries namely the United States of America (USA), the United Kingdom (UK) and Canada is discussed. The importance of international collaborations between the programs, to facilitate academic discussion and possible curriculum innovations, and to maintain professional understanding between genetic counselors is emphasized. Core genetic counseling competencies have been published for the UK and USA and an Australian set is proposed. In conclusion future directions are considered, including international issues around genetic counseling certification, reciprocity, and the potential for an Australian role in training genetic counselors in South East Asia.
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http://dx.doi.org/10.1007/s10897-005-0572-1DOI Listing
August 2005

Educating general practitioners about prenatal testing: approaches and challenges.

Prenat Diagn 2005 Jul;25(7):592-601

Genetics Education, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

Objectives: To examine the effects of an education intervention on the knowledge and practice behaviours of general practitioners (GPs) regarding prenatal screening and diagnostic testing in Melbourne, Australia.

Methods: A single group, pre-test, repeated post-test design was used. Information on demographics, knowledge, behaviours and skills was collected via a self-administered questionnaire prior to the educational intervention. Responses to individual questions were coded and scores calculated, as well as a percent total score. Following the education, data were again collected, immediately afterwards (Post-Q) and six-to-eight months later (Foll-Q).

Results: Data for all three time points were collected from 63 GPs and showed a variable, and relatively poor knowledge regarding aspects of prenatal testing, especially before education. The percent mean total score at baseline was 51.2+/-1.59% (CI 48.02 to 54.39), which increased significantly (p<0.001) in both Post-Q (62.88+/-1.51%; CI 59.86 to 65.89) and Foll-Q (58.92+/-1.6%; CI 55.71 to 62.12).

Conclusion: The educational intervention significantly increased knowledge and practice behaviour of GPs, even up to eight months later, but this could be improved further, to a considerable extent. There is a need for ongoing multi-faceted approaches to educating GPs on prenatal testing to ensure that they are engaged in appropriate practice.
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http://dx.doi.org/10.1002/pd.1202DOI Listing
July 2005

Medical students' views about Modernising Medical Careers: a questionnaire survey of London students.

Hosp Med 2004 Jul;65(7):431-3

University of London Union, London WCIE 7HY.

A survey of London medical students asked for their views of the changes to postgraduate medical education starting in August 2005. The majority had clear ideas about their career plans and did not want their career held back by the introduction of an extra year. They overwhelmingly preferred to start their early training in or reasonably near to where they had undertaken their medical studies.
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http://dx.doi.org/10.12968/hosp.2004.65.7.15480DOI Listing
July 2004

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.

Genet Med 2004 Jul-Aug;6(4):226-31

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville 3052, Victoria, Australia.

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.
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http://dx.doi.org/10.1097/01.gim.0000132681.36771.63DOI Listing
January 2005

Bullying among doctors in training: cross sectional questionnaire survey.

BMJ 2004 Sep 15;329(7467):658-9. Epub 2004 Jul 15.

London Deanery, London WC1N 1DZ.

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http://dx.doi.org/10.1136/bmj.38133.502569.AEDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC517643PMC
September 2004

Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature.

Am J Med Genet A 2003 Oct;122A(2):100-7

Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

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. Semistructured interviews were conducted with 11 families who had children diagnosed with a bone dysplasia, specifically, achondroplasia (n = 9) and pseudoachondroplasia (n = 2). Families were recruited through the Bone Dysplasia Clinic at the Royal Children's Hospital, Victoria, Australia and via contact with the Short Statured People's Association of Victoria. Parents were asked about how they were told of their child's diagnosis, how they would have preferred to have been told, and what would have made the experience less distressing for them. Transcripts of the interviews were analyzed, and major themes were identified relating to the parents' experiences. Our data suggest that the manner in which the diagnosis is conveyed to the parents plays a significant role in their adjustment and acceptance. Provision of written information relating to the condition, possible medical complications, positive outlook for their child's future, and how to find social services and supports were some of the most significant issues for the parents. The multidisciplinary approach of the Bone Dysplasia Clinic was important to parents in the continued management of the families.
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http://dx.doi.org/10.1002/ajmg.a.20201DOI Listing
October 2003

Trainees' attitudes to shift work depend on grade and specialty.

BMJ 2003 Jan;326(7379):48

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1124934PMC
January 2003

Using a competence framework to select future medical specialists.

Hosp Med 2002 Jun;63(6):361-7

London Department of Postgraduate Medical & Dental Education, London WC1N 1DZ.

Postgraduate deans in one UK region have developed a competence framework for selection of specialist registrars. This paper describes the process by which this was developed and adapted to 62 specialties. Evaluation demonstrated high levels of acceptability for applicants and to a lesser extent for selectors. An external review confirmed that the process was in keeping with good employment practice.
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http://dx.doi.org/10.12968/hosp.2002.63.6.2008DOI Listing
June 2002