Tara A Jones1, Jeanine Schulze2, Sharon Aufox1, Jason Rothstein3, Aishwarya Arjunan4. 1. Clinical Genetics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. 2. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. 3. Norton & Elaine Sarnoff Center for Jewish Genetics, Chicago, IL, USA. 4. Myriad Women's Health, Medical Affairs, South San Francisco, CA, USA. arjunan.aishwarya@gmail.com.
Abstract
PURPOSE: Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients. METHODS: Eligible participants included board-certified or board-eligible genetic counselors who had counseled preconception/prenatal patients within the past 3 years. An online survey was distributed via the National Society of Genetic Counselors in November of 2017. RESULTS: One hundred twenty genetic counselors completed the quantitative survey, distributed in Fall of 2017. While the majority of respondents knew of the Gaucher-related Parkinson's link (n = 78; 65%), just over one-third reported discussing it in preconception/prenatal settings (n = 30; 38.5%). Respondents reported discussing these links more consistently when disclosing positive results or when the patient/family approached the topic. Respondents cited the lack of professional guidelines as one of the main reasons for not discussing the link. CONCLUSION: These results highlight an inconsistency in PPGCs' discussions of the Parkinson's risk in Gaucher disease carriers, and the need to develop guidelines regarding these issues to help standardize the care and education of patients.
PURPOSE: Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients. METHODS: Eligible participants included board-certified or board-eligible genetic counselors who had counseled preconception/prenatal patients within the past 3 years. An online survey was distributed via the National Society of Genetic Counselors in November of 2017. RESULTS: One hundred twenty genetic counselors completed the quantitative survey, distributed in Fall of 2017. While the majority of respondents knew of the Gaucher-related Parkinson's link (n = 78; 65%), just over one-third reported discussing it in preconception/prenatal settings (n = 30; 38.5%). Respondents reported discussing these links more consistently when disclosing positive results or when the patient/family approached the topic. Respondents cited the lack of professional guidelines as one of the main reasons for not discussing the link. CONCLUSION: These results highlight an inconsistency in PPGCs' discussions of the Parkinson's risk in Gaucher disease carriers, and the need to develop guidelines regarding these issues to help standardize the care and education of patients.
Authors: Anthony R Gregg; Mahmoud Aarabi; Susan Klugman; Natalia T Leach; Michael T Bashford; Tamar Goldwaser; Emily Chen; Teresa N Sparks; Honey V Reddi; Aleksandar Rajkovic; Jeffrey S Dungan Journal: Genet Med Date: 2021-07-20 Impact factor: 8.864
Authors: Wayne W Grody; Barry H Thompson; Anthony R Gregg; Lora H Bean; Kristin G Monaghan; Adele Schneider; Roger V Lebo Journal: Genet Med Date: 2013-04-25 Impact factor: 8.822