Abstract
Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening. It is also unknown if pre-test counseling on this topic would affect screening uptake. In order to answer these questions, a survey was administered to individuals who screened negative for GBA mutations. Of the 75 participants, 86.7% believed that patients should be informed about the increased risk of PD prior to having GD carrier screening, and 93.3% responded that this information would not have changed their decision to have carrier screening. These results indicate that healthcare providers should take into consideration patient preferences when determining how to counsel about GD carrier screening. Additionally, these results have implications for genetic counseling about other later-onset conditions that may be incidentally ascertained through carrier screening.
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This study was performed as part of a thesis project to fulfill a degree requirement at the Icahn School of Medicine at Mount Sinai.
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Authors Maureen Mulhern and Louise Bier declare that they have no conflict of interest.
Author Dr. Alcalay is supported by the Parkinson’s Disease Foundation, the National Institutes of Health (K02NS080915 and P50HG007257), and the Michael J Fox Foundation. He consulted and received travel support from Genzyme/Sanofi, Prophase and Denali Therapeutics.
Author Dr. Balwani is a member of the International Collaborative Gaucher Group North American board of advisors. She has received honoraria and travel reimbursement from Genzyme and Shire for advisory board participation.
Human Studies and Informed Consent
This project was approved and determined to be exempt by the ISMMS Institutional Review Board on September 11th, 2014. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5).
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No animal studies were carried out by the authors for this article
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Mulhern, M., Bier, L., Alcalay, R.N. et al. Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers. J Genet Counsel 27, 675–680 (2018). https://doi.org/10.1007/s10897-017-0161-0
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DOI: https://doi.org/10.1007/s10897-017-0161-0