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Alison D Archibald - One of the best experts on this subject based on the ideXlab platform.
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Which types of conditions should be included in reproductive Genetic Carrier screening? Views of parents of children with a Genetic condition.
European journal of medical genetics, 2020Co-Authors: Lauren A Thomas, Alison D Archibald, Edwin P. Kirk, Sharon Lewis, John Massie, Kristine Barlow-stewart, Felicity K. Boardman, Jane Halliday, Belinda J Mcclaren, Martin B. DelatyckiAbstract:Reproductive Genetic Carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, Carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of Genetic conditions. Despite advances in genomic testing technology and greater availability of Carrier screening panels, there is no consensus around which types of conditions to include in Carrier screening panels. This study sought to identify which types of conditions parents of children with a Genetic condition believe should be included in Carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering Carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants' views towards Carrier screening and their lived experience of having a child with a Genetic condition.
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Preconception and antenatal Carrier screening for Genetic conditions: The critical role of general practitioners.
Australian journal of general practice, 2019Co-Authors: Martin B. Delatycki, Alison D Archibald, John Massie, Nigel G. Laing, Sarah Moore, Jon Emery, Edwin P. KirkAbstract:Background: General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child. Genetic Carrier screening can identify the chance of couples having children with recessively inherited Genetic conditions. The 2018 federal budget announced Mackenzie's Mission, a $20 million Medical Research Future Fund project investigating how such screening could be offered to all couples who wish to access it. Objectives: The aim of this paper is to discuss historical and current screening methodologies, options for individuals and couples identified as having a high chance of having a child with a Genetic condition, screening guidelines, Mackenzie's Mission and the implications of Carrier screening in general practice. Discussion: GPs are crucial to any population-wide Genetic Carrier screening program and are often the first health professional that women and couples see for preconception and early pregnancy care. Knowledge of Genetic screening will be increasingly important as such programs are developed.
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Reproductive Genetic Carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genetics in medicine : official journal of the American College of Medical Genetics, 2017Co-Authors: Alison D Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva KumarAbstract:Zoe McDonald, BSc, was omitted from the list of article coauthors. Her name should have been included as the seventh author, following Clare Elizabeth Hunt. Her affiliation is Victorian Clinical Genetics Services, Parkville, Victoria, Australia. The authors regret the error.
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I'm Healthy, It's Not Going To Be Me": Exploring experiences of Carriers identified through a population reproductive Genetic Carrier screening panel in Australia.
American journal of medical genetics. Part A, 2016Co-Authors: Catherine A. Beard, David J. Amor, Louisa Di Pietro, Alison D ArchibaldAbstract:Advancing Genetic testing technologies mean that population-based Carrier screening for multiple inherited conditions is now available. As the number of Genetic conditions being screened increases, there is a need for research into how people experience these screening programs. This research aimed to explore how women experience simultaneous Carrier screening for three inherited conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). A qualitative approach was adopted using in-depth semi-structured interviews to explore the experiences of ten female participants: five SMA Carriers, three CF Carriers, and two FXS premutation Carriers. Eight participants were pregnant when offered screening by their general practitioner or obstetrician and the decision to have screening was described as straightforward. Participants reported experiencing emotional responses such as anxiety and stress while waiting for either their partner's Carrier screen result (CF or SMA Carriers) or the pregnancy's CVS result (FXS Carrier) and sought additional information about the relevant condition during this time. Most participants were in favor of population Carrier screening for these conditions, preferably prior to conception. Genetic counselors played an essential role in supporting couples after they received a Carrier result given the variable consent processes undertaken when screening was offered. Further research should focus on the development of reliable online information tailored to people receiving Carrier results and strategies for raising awareness of the availability of population Carrier screening within the community. © 2016 Wiley Periodicals, Inc.
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“It gives them more options”: preferences for preconception Genetic Carrier screening for fragile X syndrome in primary healthcare
Journal of community genetics, 2016Co-Authors: Alison D Archibald, Chriselle L Hickerton, Alice M Jaques, Samantha Wake, Jonathan Cohen, Sylvia A MetcalfeAbstract:This study aims to explore stakeholder views about offering population-based Genetic Carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an in-depth exploration of views and perceptions about practicalities of, and strategies for, offering Carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for Carriers was emphasized. There was a preference for preconception Carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals’ approach to offering screening. With the increasing availability of Genetic Carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of Carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making Genetic screening more accessible to the general community.
Sylvia A Metcalfe - One of the best experts on this subject based on the ideXlab platform.
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“It gives them more options”: preferences for preconception Genetic Carrier screening for fragile X syndrome in primary healthcare
Journal of community genetics, 2016Co-Authors: Alison D Archibald, Chriselle L Hickerton, Alice M Jaques, Samantha Wake, Jonathan Cohen, Sylvia A MetcalfeAbstract:This study aims to explore stakeholder views about offering population-based Genetic Carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an in-depth exploration of views and perceptions about practicalities of, and strategies for, offering Carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for Carriers was emphasized. There was a preference for preconception Carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals’ approach to offering screening. With the increasing availability of Genetic Carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of Carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making Genetic screening more accessible to the general community.
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"It's about having the choice": stakeholder perceptions of population-based Genetic Carrier screening for fragile X syndrome.
American journal of medical genetics. Part A, 2012Co-Authors: Alison D Archibald, Chriselle L Hickerton, Alice M Jaques, Samantha Wake, Jonathan Cohen, Sylvia A MetcalfeAbstract:This project explored, the views of key stakeholders regarding population-based Genetic Carrier screening for fragile X syndrome (FXS). Interviews and focus groups were conducted with healthcare providers, relatives of individuals with FXS and members of the general population. Data were transcribed verbatim and coded into themes. 188 individuals took part in this study. Perceived benefits of Carrier screening included: learning the risk of having a child with FXS; learning the risk of fragile X-associated primary ovarian insufficiency; and the opportunity for Carriers to access reproductive options. Concerns included: the emotional impact of screening and receiving a Carrier result; the predictive testing nature of the Carrier test with respect to fragile X-associated tremor/ataxia syndrome; potential confusion created by receiving an intermediate result; and implications of Genetic screening for society. Overall, population-based Genetic Carrier screening was perceived to be acceptable provided it is optional and offered at an appropriate stage of life. With the support of the participants to promote individual choice by offering a population-based Carrier screening program for FXS, it is essential to carefully consider how screening might be offered in order to ensure broad accessibility and facilitation of decision-making.
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It's about having the choice": stakeholder perceptions of population-based Genetic Carrier screening for fragile X syndrome.
American Journal of Medical Genetics Part A, 2012Co-Authors: Alison D Archibald, Chriselle L Hickerton, Alice M Jaques, Samantha Wake, Jonathan Cohen, Sylvia A MetcalfeAbstract:This project explored, the views of key stakeholders regarding population-based Genetic Carrier screening for fragile X syndrome (FXS). Interviews and focus groups were conducted with healthcare providers, relatives of individuals with FXS and members of the general population. Data were transcribed verbatim and coded into themes. 188 individuals took part in this study. Perceived benefits of Carrier screening included: learning the risk of having a child with FXS; learning the risk of fragile X-associated primary ovarian insufficiency; and the opportunity for Carriers to access reproductive options. Concerns included: the emotional impact of screening and receiving a Carrier result; the predictive testing nature of the Carrier test with respect to fragile X-associated tremor/ataxia syndrome; potential confusion created by receiving an intermediate result; and implications of Genetic screening for society. Overall, population-based Genetic Carrier screening was perceived to be acceptable provided it is optional and offered at an appropriate stage of life. With the support of the participants to promote individual choice by offering a population-based Carrier screening program for FXS, it is essential to carefully consider how screening might be offered in order to ensure broad accessibility and facilitation of decision-making. © 2012 Wiley Periodicals, Inc.
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Carrier screening for Beta-thalassaemia: a review of international practice
European Journal of Human Genetics, 2010Co-Authors: Nicole E Cousens, Sylvia A Metcalfe, Clara L Gaff, Martin B. DelatyckiAbstract:β -thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia Carrier screening is the most widely performed Genetic screening test, occurring in many different countries. β -thalassaemia Carrier screening programmes provide a unique opportunity to compare the delivery of Carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of β -thalassaemia Carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia Carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which Genetic Carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population Carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.
Edwin P. Kirk - One of the best experts on this subject based on the ideXlab platform.
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Which types of conditions should be included in reproductive Genetic Carrier screening? Views of parents of children with a Genetic condition.
European journal of medical genetics, 2020Co-Authors: Lauren A Thomas, Alison D Archibald, Edwin P. Kirk, Sharon Lewis, John Massie, Kristine Barlow-stewart, Felicity K. Boardman, Jane Halliday, Belinda J Mcclaren, Martin B. DelatyckiAbstract:Reproductive Genetic Carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, Carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of Genetic conditions. Despite advances in genomic testing technology and greater availability of Carrier screening panels, there is no consensus around which types of conditions to include in Carrier screening panels. This study sought to identify which types of conditions parents of children with a Genetic condition believe should be included in Carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering Carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants' views towards Carrier screening and their lived experience of having a child with a Genetic condition.
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Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
European journal of human genetics : EJHG, 2020Co-Authors: Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, David J. Amor, Madhura Bakshi, Clara W T ChungAbstract:Reproductive Genetic Carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked Genetic conditions. We developed a gene list for use in “Mackenzie’s Mission”, a research project in which 10,000 couples will undergo screening. Criteria for selecting genes were: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome. Strong evidence for gene-phenotype relationship was required. Candidate genes were identified from OMIM and via review of 23 commercial and published gene lists. Genes were reviewed by 16 clinical Geneticists using a standard operating procedure, in a process overseen by a multidisciplinary committee which included clinical Geneticists, Genetic counselors, an ethicist, a parent of a child with a Genetic condition and scientists from diagnostic and research backgrounds. 1300 genes met criteria. Genes associated with non-syndromic deafness and non-syndromic differences of sex development were not included. Our experience has highlighted that gene selection for a Carrier screening panel needs to be a dynamic process with ongoing review and refinement.
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Preconception and antenatal Carrier screening for Genetic conditions: The critical role of general practitioners.
Australian journal of general practice, 2019Co-Authors: Martin B. Delatycki, Alison D Archibald, John Massie, Nigel G. Laing, Sarah Moore, Jon Emery, Edwin P. KirkAbstract:Background: General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child. Genetic Carrier screening can identify the chance of couples having children with recessively inherited Genetic conditions. The 2018 federal budget announced Mackenzie's Mission, a $20 million Medical Research Future Fund project investigating how such screening could be offered to all couples who wish to access it. Objectives: The aim of this paper is to discuss historical and current screening methodologies, options for individuals and couples identified as having a high chance of having a child with a Genetic condition, screening guidelines, Mackenzie's Mission and the implications of Carrier screening in general practice. Discussion: GPs are crucial to any population-wide Genetic Carrier screening program and are often the first health professional that women and couples see for preconception and early pregnancy care. Knowledge of Genetic screening will be increasingly important as such programs are developed.
Allyn Mcconkie-rosell - One of the best experts on this subject based on the ideXlab platform.
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When to tell and test for Genetic Carrier status: perspectives of adolescents and young adults from fragile X families.
American Journal of Medical Genetics Part A, 2009Co-Authors: Ramsey M Wehbe, Gail A Spiridigliozzi, Elizabeth M Heise, Deborah V Dawson, Allyn Mcconkie-rosellAbstract:We report here on our findings from adolescent and young adult females (ages 14–25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for (1) learning fragile X is inherited, (2) learning one could be a Carrier for fragile X, and (3) offering Carrier testing for fragile X. Three groups were enrolled: those who knew they were Carriers or nonCarriers and those who knew only they were at-risk to be a Carrier. Only 2 of the 53 participants felt that offering Carrier testing should be delayed until the age of 18 years. Participants who knew only that they were at-risk to be a Carrier provided older optimal ages for offering Carrier testing than those who knew their actual Carrier status. Participants did not express regret or negative emotions about the timing of the disclosure of Genetic risk information regarding their own experiences. Participants’ reasoning behind reported ages for informing about Genetic risk and offering Carrier testing varied depending on what type of information was being disclosed, which Carrier status group the participant belonged to, and the preferred age for learning the information. Study findings suggest that decisions regarding the timing to inform about Genetic risk and offer testing should be tailored to the individual needs of the child and his/her family. 2009 Wiley-Liss, Inc.
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When to tell and test for Genetic Carrier status: perspectives of adolescents and young adults from fragile X families.
American journal of medical genetics. Part A, 2009Co-Authors: Ramsey M Wehbe, Gail A Spiridigliozzi, Elizabeth M Heise, Deborah V Dawson, Allyn Mcconkie-rosellAbstract:We report here on our findings from adolescent and young adult females (ages 14-25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for (1) learning fragile X is inherited, (2) learning one could be a Carrier for fragile X, and (3) offering Carrier testing for fragile X. Three groups were enrolled: those who knew they were Carriers or nonCarriers and those who knew only they were at-risk to be a Carrier. Only 2 of the 53 participants felt that offering Carrier testing should be delayed until the age of 18 years. Participants who knew only that they were at-risk to be a Carrier provided older optimal ages for offering Carrier testing than those who knew their actual Carrier status. Participants did not express regret or negative emotions about the timing of the disclosure of Genetic risk information regarding their own experiences. Participants' reasoning behind reported ages for informing about Genetic risk and offering Carrier testing varied depending on what type of information was being disclosed, which Carrier status group the participant belonged to, and the preferred age for learning the information. Study findings suggest that decisions regarding the timing to inform about Genetic risk and offer testing should be tailored to the individual needs of the child and his/her family.
Martin B. Delatycki - One of the best experts on this subject based on the ideXlab platform.
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Which types of conditions should be included in reproductive Genetic Carrier screening? Views of parents of children with a Genetic condition.
European journal of medical genetics, 2020Co-Authors: Lauren A Thomas, Alison D Archibald, Edwin P. Kirk, Sharon Lewis, John Massie, Kristine Barlow-stewart, Felicity K. Boardman, Jane Halliday, Belinda J Mcclaren, Martin B. DelatyckiAbstract:Reproductive Genetic Carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, Carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of Genetic conditions. Despite advances in genomic testing technology and greater availability of Carrier screening panels, there is no consensus around which types of conditions to include in Carrier screening panels. This study sought to identify which types of conditions parents of children with a Genetic condition believe should be included in Carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering Carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants' views towards Carrier screening and their lived experience of having a child with a Genetic condition.
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Preconception and antenatal Carrier screening for Genetic conditions: The critical role of general practitioners.
Australian journal of general practice, 2019Co-Authors: Martin B. Delatycki, Alison D Archibald, John Massie, Nigel G. Laing, Sarah Moore, Jon Emery, Edwin P. KirkAbstract:Background: General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child. Genetic Carrier screening can identify the chance of couples having children with recessively inherited Genetic conditions. The 2018 federal budget announced Mackenzie's Mission, a $20 million Medical Research Future Fund project investigating how such screening could be offered to all couples who wish to access it. Objectives: The aim of this paper is to discuss historical and current screening methodologies, options for individuals and couples identified as having a high chance of having a child with a Genetic condition, screening guidelines, Mackenzie's Mission and the implications of Carrier screening in general practice. Discussion: GPs are crucial to any population-wide Genetic Carrier screening program and are often the first health professional that women and couples see for preconception and early pregnancy care. Knowledge of Genetic screening will be increasingly important as such programs are developed.
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Carrier screening for Beta-thalassaemia: a review of international practice
European Journal of Human Genetics, 2010Co-Authors: Nicole E Cousens, Sylvia A Metcalfe, Clara L Gaff, Martin B. DelatyckiAbstract:β -thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia Carrier screening is the most widely performed Genetic screening test, occurring in many different countries. β -thalassaemia Carrier screening programmes provide a unique opportunity to compare the delivery of Carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of β -thalassaemia Carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia Carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which Genetic Carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population Carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.