Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Maureen Mulhern, Louise Bier, Roy N. Alcalay, Manisha Balwani

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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.

Original languageEnglish
Pages (from-to)675-680
Number of pages6
JournalJournal of Genetic Counseling
Issue number3
StatePublished - 1 Jun 2018


  • Carrier screening
  • Gaucher disease
  • Parkinson disease
  • Reproductive genetic counseling


Dive into the research topics of 'Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers'. Together they form a unique fingerprint.

Cite this