Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control. | LitMetric
Despite clinical guidelines, programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. We interviewed individuals (n = 13) instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. To characterize determinants of readiness to implement population-based cancer genetic service delivery models, interviews and deductive codes drew on Weiner's theory of organizational readiness for change. Qualitative analysis identified themes across programs. The degree to which organizational stakeholders valued moving to a population-based genetic service delivery model depended on the existence of aligned clinical guidelines at the time of program implementation. However, judgments of implementation capacity within the organization, particularly with respect to task demands and resource concerns, were more often barriers to readiness. Program champions were essential to facilitating readiness, frequently taking on substantial uncompensated work. These data suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.
Optimal blood flow through a patent cerebral circulation is critical for supply of oxygen and nutrients for brain function. The integrity of vascular elements within arterial vessels of any calibre can be compromised by various disease processes. Pathological changes in the walls of veins and the venous system may also alter the dynamics of cerebral perfusion.
Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Trousseau, Service de Pneumologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares RespiRare, Paris, France; Sorbonne Université, Inserm U938, Centre de Recherche Saint-Antoine (CRSA), Paris, France. Electronic address:
Although relatively rare, neuroendocrine tumors (NETs) represent the most common type of endobronchial tumors in pediatric patients. Their clinical presentation lacks specificity, often leading to delayed diagnosis due to limited clinical suspicion. Mainly classified as low-grade malignant tumors (grade 1), they typically demonstrate favorable outcomes following surgical removal.
Introduction: The common genetic underpinnings of psoriasis and pulmonary comorbidities have yet to be explored.
Material And Methods: In this cross-sectional study, we investigated the single-nucleotide polymorphisms (SNPs) associated with psoriasis and their relationship with pulmonary function using data from the UK Biobank (UKBB) and the Vanderbilt University Medical Center Biobank (BioVU).
Results: Out of the 63 psoriasis-associated SNPs identified in previous genome-wide association studies within the European population, we successfully identified 53 SNPs, including proxy SNPs in UKBB database.
Background: Cancer patients frequently suffer from pain, often managed with opioids. However, undertreated pain remains a significant concern. Opioid effectiveness varies due to genetic differences in how individuals metabolize some of these medications.
