Publications by authors named "Maatje Scheepers-Joynt"
Purpose: To prospectively assess patient reported outcomes and risk management behavior of women choosing to receive (receivers) or decline (decliners) their breast cancer polygenic risk score (PRS).
Methods: Women either unaffected or affected by breast cancer and from families with no identified pathogenic variant in a breast cancer risk gene were invited to receive their PRS. All participants completed a questionnaire at study enrollment.
Article Synopsis
- - Hereditary breast cancer is linked to genetic changes, including rare gene variants and common genomic risk variants that create a polygenic risk (PR) score, which is still being evaluated for clinical use.
- - A study analyzed 65 genetic counseling sessions about PR scores and found that compared to discussions about monogenic risk (MR), counseling for PR was less patient-centered, focusing more on teaching rather than understanding individual patient needs.
- - As PR scores are expected to become standard in clinical practice, it’s essential for genetic health professionals to receive proper education to effectively communicate and address patient concerns and preferences.
Objective: To describe the communication of polygenic risk scores (PRS) in the familial breast cancer setting.
Methods: Consultations between genetic healthcare providers (GHP) and female patients who received their PRS for breast cancer risk were recorded (n = 65). GHPs included genetic counselors (n = 8) and medical practitioners (n = 5) (i.
Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and determine factors associated with uptake of PRS among women at increased risk of breast cancer for whom genetic testing to date had been uninformative. Participants were recruited from the Variants in Practice study from which breast cancer PRS had been calculated.
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