Jackie Boyle
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View article: Shared Decision‐Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person‐Centred, and Respectful Approaches
Shared Decision‐Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person‐Centred, and Respectful Approaches Open
With over 1000 genetic causes for neurodevelopmental conditions, genetic testing (including exome sequencing) is recommended for people with intellectual disability to guide clinical care, as well as improve empowerment, connection to peer…
View article: “All doctors should be trained in that”: The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability
“All doctors should be trained in that”: The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability Open
View article: Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”
Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember” Open
Rare genetic conditions (molecularly diagnosed and undiagnosed) of childhood are typically complex in presentation and natural history. Consequently, the diagnostic odyssey can result in families having multiple interactions with diverse h…
View article: “All doctors should be trained in that”: The coproduction and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability
“All doctors should be trained in that”: The coproduction and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability Open
Coproduction can be successfully applied to improve the engagement of people with intellectual disability, potentially reducing health inequity and improving the safety and quality of genetic health care.
View article: “It was up to me to be curious”: Perceptions and Experiences of Students with Intellectual Disability on Genetics and Health Education
“It was up to me to be curious”: Perceptions and Experiences of Students with Intellectual Disability on Genetics and Health Education Open
People with intellectual disability want to learn more about their health and genetics. They want to be empowered with the knowledge and skills to make informed health and genetic healthcare choices. Little is known about what high school …
View article: The Healthcare and Societal Costs of Familial Intellectual Disability
The Healthcare and Societal Costs of Familial Intellectual Disability Open
Most of the studies on the cost of intellectual disability are limited to a healthcare perspective or cohorts composed of individuals where the etiology of the condition is a mixture of genetic and non-genetic factors. When used in policy …
View article: The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability
The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability Open
The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability
View article: Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia – CORRIGENDUM
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia – CORRIGENDUM Open
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View article: Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions
Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions Open
This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests. In this Statement, the term ‘carrier testing’ refers to genetic testing in a…
View article: Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia Open
The expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or …
View article: “I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare
“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare Open
View article: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Open
View article: “I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare.
“I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare. Open
There is limited research exploring the knowledge and experiences of genomic healthcare from the perspective of people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults …
View article: Human Genetics Society of Australasia Position Statement: Use of Human Genetic and Genomic Information in Healthcare Settings
Human Genetics Society of Australasia Position Statement: Use of Human Genetic and Genomic Information in Healthcare Settings Open
Human genetic and genomic information (HGI) is being generated, utilized and accessed across a wide range of healthcare settings. While traditionally clinical genetics services have maintained guardianship and enforced rigid protections of…
View article: Australian human research ethics committee members’ confidence in reviewing genomic research applications
Australian human research ethics committee members’ confidence in reviewing genomic research applications Open
View article: Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children
Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children Open
In 2020, the Human Genetics Society of Australasia released its Position Statement on Predictive and Presymptomatic Genetic Testing in Adults and Children. This Position Statement synthesizes the major practical, psychosocial and ethical c…
View article: Pre‐genetics clinic resource evaluation for adults with intellectual disability: The pre‐genetics clinic aid
Pre‐genetics clinic resource evaluation for adults with intellectual disability: The pre‐genetics clinic aid Open
People with intellectual disability (PWID) consistently identify the importance of health service information that is accessible and relevant. Resources tailored to the information and support needs of PWID can facilitate inclusivity in th…
View article: Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Open
View article: Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia Open
The expansion of genetic and genomic testing in clinical practice and research and the growing market for at home personal genome testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or geno…
View article: Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study
Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study Open
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population s…
View article: The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy
The molecular and phenotypic spectrum of <i><span>IQSEC</span>2</i>‐related epilepsy Open
Summary Objective IQSEC 2 is an X‐linked gene associated with intellectual disability ( ID ) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC 2 pathogenic variants. Methods Forty‐eight patie…
View article: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females Open
View article: A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability Open
View article: THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability Open
View article: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Open