Publications by authors named "Renata Thoeny"
Purpose: To understand factors influencing patient satisfaction with genetics education and psychosocial support in an IVF clinic without a genetic counselor (GC), and how the role of a GC may fill gaps in care using a mixed-method cross-sectional study.
Methods: Previous IVF patients (n = 133) completed a survey assessing satisfaction with genetics education and psychosocial support and decisional conflict about genetic testing. Kruskal-Wallis tests were used to compare satisfaction level to demographic and clinical variables.
Article Synopsis
- Birt-Hogg-Dubé (BHD) syndrome is a genetic disorder linked to the FLCN gene, causing benign skin lesions, spontaneous lung issues, and an increased risk of kidney tumors.
- A study at the University of Michigan reviewed cases of patients with skin lesions (trichodiscoma and fibrofolliculoma) to evaluate genetics referrals and test results related to BHD.
- Of the 64 patients studied, only 25% were referred for genetic counseling, but among those tested, 64% were diagnosed with BHD, highlighting the importance of early referral for better management of associated conditions.