Objective: To increase genetic counseling referrals for patients with newly diagnosed epithelial ovarian cancer (EOC).
Methods: A practice-gap analysis was performed after measuring baseline genetic counseling referral rates to identify barriers to referral from the multidisciplinary single institution EOC care group. A Genetics Referral Toolkit consisting of a referral template, a genetic risk checklist, family history worksheet and provider and patient awareness was developed to address identified gaps with the goal of increasing referral rates. Clinical characteristics, referral placement, completion of genetic counseling/testing were abstracted for a historic cohort and intervention cohort. Data for the two cohorts were compared using chi-square, Fisher's exact test, or t-test. Association with referral was determined by univariate logistic regression.
Results: Eighty one patients from July through December 2013 (historic cohort) and 62 patients from July through December 2015 (intervention cohort) were identified as having a new diagnosis of EOC. Among these women, genetic counseling referral rates increased from 48.1% (39/81) in 2013 to 74.2% (46/62) in 2015 (p=0.002) after implementation of the toolkit. In a subset of patients without a previous genetic counseling referral, 87.9% (29/33) completed counseling and 79.3% (23/29) pursued testing from the historic cohort. In the intervention cohort, 60% (24/40) were seen for counseling and 100% (24/24) had testing.
Conclusion: Application of a quality improvement process to create a Genetics Referral Toolkit increased the genetic counseling referral rate in patients with a new diagnosis of EOC. The majority of patients who were referred completed genetics consultation and elected genetic testing.
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http://dx.doi.org/10.1016/j.ygyno.2018.01.033 | DOI Listing |
J Clin Med
January 2025
Medical Oncology Department, Hospital Universitario Miguel Servet, 50012 Zaragoza, Spain.
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Eye Clinic, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases characterized by the progressive loss of photoreceptor function, visual impairment, and, ultimately, blindness. While gene therapy has emerged as a promising therapy, it is currently available only for the RPE65 gene mutation, leaving many patients without targeted genetic treatments. Non-surgical interventions may help in managing the progression of RP and improving patients' quality of life.
View Article and Find Full Text PDFAmniocentesis is a widely used invasive prenatal diagnostic procedure, recognized for its high sensitivity and low risk of complications. This study aims to evaluate the association between amniocentesis and pregnancy outcomes, such as miscarriage, preterm rupture of membranes (PROM), and preterm birth, as well as perinatal outcomes. A case-control study was conducted at the Regional Hospital in Kielce, Poland, from 2016 to 2022, involving 1834 patients, 225 of whom underwent amniocentesis, while 1609 did not receive any invasive diagnostics.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
View Article and Find Full Text PDFMedicina (Kaunas)
January 2025
Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute for Mother and Child Health, 20382 Bucharest, Romania.
Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!