The social value of genomic sequencing for disadvantaged families facing rare disease

Outram, Simon; Julia, Brown; SL, Ackerman

doi:10.1016/j.socscimed.2022.115465

Cited by 4 publications

(4 citation statements)

References 44 publications

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“…Being able to name the mitochondrial disease provided a valuable sense of validation for parents and in some cases also reduced their sense of guilt. This is similarly reflected in studies focusing on the value that parents place on the diagnostic aetiology of intellectual disability or rare diseases [10,21]. Given the variable nature of any mitochondrial disorder, however, and the lack of formal treatment guidelines, a clinical diagnosis may not fulfil parental expectations of clarity around prognosis and treatment options [22].…”

Section: Discussionmentioning

confidence: 99%

“…All participants were Caucasian and mostly well educated, so findings may not be generalizable to other patient groups. In particular, the unique challenges faced by families of culturally and linguistically diverse backgrounds in navigating the healthcare system are likely to be under-represented [21]. Including this demographic in future research will be key to provide a more complete depiction of the spectrum of parents' psychosocial experiences in caring for a child with PMD.…”

Section: Discussionmentioning

confidence: 99%

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Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Heath,

Hammerl,

Spitzinger

et al. 2024

Preprint

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Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty, and considerable psychosocial challenges. Semi-structured interviews (N= 24) were conducted with parents of 13 children (aged 2-19 years) with a genetically confirmed PMD. Paternal (N=11) and maternal (N=13) perspectives were obtained, and thematic analysis performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Heath,

Hammerl,

Spitzinger

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Being able to name the mitochondrial disease provided a valuable sense of validation for parents and in some cases also reduced their sense of guilt. This is similarly reflected in studies focusing on the value that parents place on the diagnostic etiology of intellectual disability or rare diseases [10,22]. Given the variable nature of any mitochondrial disorder, however, and the lack of formal treatment guidelines, a clinical diagnosis may not fulfill parental expectations of clarity around prognosis and treatment options [23].…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, all participants were Caucasian and mostly well-educated, so findings may not be generalizable to other patient groups. In particular, the unique challenges faced by families of culturally and linguistically diverse backgrounds in navigating the healthcare system are likely to be under-represented [22]. Including this demographic in future research will be key to providing a more complete depiction of the spectrum of parents' psychosocial experiences in caring for a child with PMD.…”

Section: Discussionmentioning

confidence: 99%

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Heath,

Hammerl,

Spitzinger

et al. 2024

JPM

View full text Add to dashboard Cite

Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty and considerable psychosocial challenges. Semi-structured interviews (N = 24) were conducted with parents of 13 children (aged 2–19 years) with a genetically confirmed PMD. Paternal (N = 11) and maternal (N = 13) perspectives were obtained, and thematic analysis was performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied, with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs.

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“I Have Fought for so Many Things”: Disadvantaged families’ Efforts to Obtain Community-Based Services for Their Child after Genomic Sequencing

Ackerman

Brown

Zamora

et al. 2023

AJOB Empirical Bioethics

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The social value of genomic sequencing for disadvantaged families facing rare disease

Cited by 4 publications

References 44 publications

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

“I Have Fought for so Many Things”: Disadvantaged families’ Efforts to Obtain Community-Based Services for Their Child after Genomic Sequencing

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