Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives

Dennis, Catherine; Dijk, Fleur S van; Lucassen, Anneke

doi:10.1177/01410768231182836

J R Soc Med

2023

DOI: 10.1177/01410768231182836

|View full text |Cite

Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives

Catherine Dennis

Fleur S van Dijk

Anneke Lucassen

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

2024

Publication Types

Select...

Article3

Relationship

Self Cite0

Independent3

Authors

Journals

Cited by 3 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…When the NHS was founded 75 years ago would anybody have guessed, in the unlikely event that they asked the question, that this month’s JRSM would feature articles on carbon footprints, 1 genetic testing after death, 2 and artificial intelligence? 3 That these issues seem entirely routine to us underline the difficulty of predicting the future.…”

mentioning

confidence: 99%

Is an independent NHS an impossible dream?

Abbasi¹

2023

J R Soc Med

View full text Add to dashboard Cite

mentioning

confidence: 99%

Is an independent NHS an impossible dream?

Abbasi¹

2023

J R Soc Med

View full text Add to dashboard Cite

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood

Wilkinson,

Cervi,

Wagner

et al. 2024

Eur J Hum Genet

View full text Add to dashboard Cite

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this. Patients were identified through the National Ehlers-Danlos Syndrome (EDS) Service London. We report on 18 events in childhood, recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0–13) and genetic testing was initiated as a direct result of the first event in 11/13 cases. In the cohort majority, diagnosis was the result of familial genetic testing (55%). Our findings emphasise the importance of offering genetic testing in childhood when there is a positive family history of vEDS and/or features suggestive of a potential inherited connective tissue disorder. Diagnosis in childhood allows for follow-up surveillance and informed multi-disciplinary management, in addition to genetic counselling and patient-led management including lifestyle modification. As seen in adult cohorts, we anticipate children with vEDS will experience the same protective benefit afforded by early diagnosis and present preliminary data on follow-up in childhood. Formal evaluation of the impact that diagnosis of vEDS in childhood has on disease management is needed when sufficient data is internationally available.

show abstract

Genomic testing and patient rights

Jones,

Karp,

Davis

2024

JNCI: Journal of the National Cancer Institute

View full text Add to dashboard Cite

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives

Cited by 3 publications

References 4 publications

Is an independent NHS an impossible dream?

Is an independent NHS an impossible dream?

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood

Genomic testing and patient rights

Contact Info

Product

Resources

About