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. 2022 Mar;39(3):747-755.
doi: 10.1007/s10815-022-02430-2. Epub 2022 Feb 11.

A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility

Tara A Jones  1 , Jeanine Schulze  2 , Sharon Aufox  1 , Jason Rothstein  3 , Aishwarya Arjunan  4
Affiliations

A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility

Tara A Jones et al. J Assist Reprod Genet. 2022 Mar.

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.

Keywords: Carrier risks; Carrier screening; Informed consent; Pregnancy; Prenatal testing; Secondary findings.

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Conflict of interest statement

AA was an employee and shareholder of Myriad Genetics, a laboratory that offers carrier screening at the time of study. TJ holds shares in Invitae and Myriad, both genetic laboratories offering carrier screening. The other authors declare no competing interests.

Figures

Fig. 1
Fig. 1
GBA-PD knowledge level. Participants were asked whether they were aware of any accompanying risk associated with being a carrier of GBA mutation and additional questions regarding the type of risk, symptoms, and onset
Fig. 2
Fig. 2
Circumstances when the risk of Parkinson’s disease in GBA carriers is discussed. Participants were asked to share under which circumstances they discuss the GBA-PD risk with patients undergoing testing
Fig. 3
Fig. 3
Timing of GBA carrier and Parkinson’s disease risk discussion. Participants were asked at what stage of testing do they discuss the risk of Parkinson’s disease in GBA carriers
Fig. 4
Fig. 4
Comfort level in discussing GBA-PD link. Participants were asked how comfortable they were with discussing a result that reveals an increased risk for Parkinson disease during preconception/prenatal indications
See this image and copyright information in PMC

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