Genetic testing for vascular anomalies – American society of pediatric otolaryngology vascular anomalies task force practice patterns

Eljamri, Soukaina; MacArthur, Carol J.; Strub, Graham M.; Bly, Randall A.; Bonilla-Vélez, Juliana; Rosenberg, Tara L.; Padia, Reema

doi:10.1016/j.ijporl.2022.111363

Cited by 1 publication

(1 citation statement)

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“…Promising preliminary results suggest targeted gene therapies may lead to significant improvements in management, including pain reduction, a decrease in lesion size, reduced bleeding, and, in some cases, allowing the cessation of regular blood transfusions (Seront et al, 2019; Tole et al, 2021). Eligibility for such trials is typically dependent on confirming a molecular genetic diagnosis for the VA; however, genomic technologies have been difficult to access for patients with VAs in Australian healthcare settings due to the lack of appropriate clinical testing programs, funding/resources, and knowledge (Eljamri et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies

Garza,

Hildebrand,

Penington

et al. 2023

Journal of Genetic Counseling

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Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support. Nine semi‐structured interviews were conducted with Australian healthcare professionals involved in the provision of care for individuals with vascular anomalies. Thematic analysis identified six themes: (1) Molecular diagnosis is beneficial; (2) psychosocial needs can motivate families to pursue a molecular diagnosis; (3) molecular genetic testing for vascular anomalies is complex; (4) genetic service provision is not a one size fits all; (5) a client‐centered approach for genetic service provision can go a long way; and (6) the value of genetic counselors. Based on our findings, implementation of a vascular anomalies genetic diagnostic program inclusive of genetic counseling may be challenging, yet such programs are likely to benefit both patients and their families, as well as healthcare professionals. As this paradigm shift unfolds, genetic counselors have an opportunity to contribute to the vascular anomaly field by educating healthcare professionals and patients, by participating in multidisciplinary clinics to support complex cases and by raising awareness regarding their practice and potential contributions.

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Section: Introductionmentioning

confidence: 99%