Expanded universal carrier screening and its implementation within a publicly funded healthcare service

Rowe, Charlotte A; Wright, Caroline F.

doi:10.1007/s12687-019-00443-6

Cited by 38 publications

(43 citation statements)

References 76 publications

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“…There are also ethical aspects regarding the classification of gene variants identified during the testing process. 11 There can be a degree of uncertainty as to how strongly a particular variant is associated with a genetic condition, an issue compounded in population screening because there is no index case (proband) to facilitate interpretation. This has ethical implications because reporting a variant as disease-causing when it is not may mean a couple will experience additional uncertainty and perhaps go through unnecessary tests or interventions.…”

Section: Ethical Aspects Of Gene Selectionmentioning

confidence: 99%

“…Cost-effectiveness of population-wide RCS has not yet been established conclusively by the existing evidence; 11 however, one of the aims of Mackenzie's Mission is to generate such evidence for the Australian health care system.…”

Section: Public Fundingmentioning

confidence: 99%

“…There are also ethical aspects regarding the classification of gene variants identified during the testing process 11. There can be a degree of uncertainty as to how strongly a particular variant is associated with a genetic condition, an issue compounded in population screening because there is no index case (proband) to facilitate interpretation.…”

Section: Ethical Aspects Of Gene Selectionmentioning

confidence: 99%

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Ethical issues in reproductive genetic carrier screening

Dive

Newson

2020

Medical Journal of Australia

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Section: Ethical Aspects Of Gene Selectionmentioning

confidence: 99%

Section: Public Fundingmentioning

confidence: 99%

Section: Ethical Aspects Of Gene Selectionmentioning

confidence: 99%

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Ethical issues in reproductive genetic carrier screening

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Newson

2020

Medical Journal of Australia

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“…Another aspect associated with the implementation of ECS is the large heterogeneity of ECS panels. The number of disorders included in current panels varies from 40 to almost 1500 disorders (Chokoshvili et al 2018b ; Rowe and Wright 2020 ). Although European (Henneman et al 2016 ), American (Edwards et al 2015 ), and Australian (Kirk et al 2020 ) guidelines and pilot studies have proposed consensus-based criteria for the composition of panels, major differences were shown in an overview of 16 available (commercial) ECS tests with overlap in only three disorders for all providers (Chokoshvili et al 2018b ).…”

Section: Introductionmentioning

confidence: 99%

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

et al. 2021

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Preconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

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“…Although data are obtained for the whole genome or exome, screening is often targeted at a predetermined subset of genes and/or variants. 11,12 The Australian Government is evaluating the potential benefits and challenges that ECS presents 7,[12][13][14][15][16][17] with a view to its introduction into the national healthcare system. 18 Our focus here is on the significant challenges of achieving inclusion and equitable benefits for Indigenous Australians from this approach and, by extension, medical genomics generally.…”

Section: Introductionmentioning

confidence: 99%

Expanded carrier screening for monogenic diseases for Australians of Aboriginal and/or Torres Strait Islander descent

Easteal¹,

McWhirter²

2020

Preprint

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Accounting for ancestral diversity is essential in medical genomics. For this reason, inclusion of Indigenous and other under-represented populations in genomic research is necessary to ensure equitable outcomes and access to precision medicine and disease prevention. Here we discuss this issue in the context of a national program of pre-conception expanded carrier screening (ECS) for recessive monogenic diseases, funded by the Australian Government as part of its Genomics Health Futures Mission. Current knowledge and research about monogenic diseases are mainly based on people with European ancestry and little is known about pathogenic DNA variants in people of Aboriginal and/or Torres Strait Islander descent. We argue that significant effort is required to build the evidence base and genomic reference data required before ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. Research programs and creation of reference data are required to correct this bias. They are essential steps to achieving the Australian Government’s objectives and its commitment “to leveraging the benefits of genomics in the health system for all Australians”. They require culturally safe, community-led research and community engagement embedded within national health and medical genomics programs that ensure that new knowledge is integrated into medicine and health services in ways that address the cultural and health needs of Indigenous people. Until this occurs, Australians of European ancestry stand to benefit most and, as a consequence, Indigenous Australians and other minority groups in the Australian population are at risk of being, in relative terms, further disadvantaged.

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Expanded universal carrier screening and its implementation within a publicly funded healthcare service

Cited by 38 publications

References 76 publications

Ethical issues in reproductive genetic carrier screening

Ethical issues in reproductive genetic carrier screening

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

Expanded carrier screening for monogenic diseases for Australians of Aboriginal and/or Torres Strait Islander descent

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