Parkinson’s Disease Risk Should Be Discussed Before Gaucher Genetic Testing, Patients Say

Parkinson’s Disease Risk Should Be Discussed Before Gaucher Genetic Testing, Patients Say
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A recent survey of people who were tested to see if they carry Gaucher disease-causing mutations in the GBA gene asked if they believe patients should also be informed about the increased risk of Parkinson’s disease (PD) before the screening. Most of those surveyed replied yes, they think people should be informed, the study found.

The findings respond to a need for genetic counseling guidelines for the Gaucher-Parkinson’s link with patients screening for Gaucher. The study, published in the Journal of Genetic Counseling, also illustrates the importance of taking patient preferences into account when developing strategies on counseling.

According to the American College of Medical Genetics and Genomics, people who take genetic carrier tests should be counseled that being a carrier, or having only one mutated gene copy when two are needed to develop a disease, will not mean developing the disease, but rather a risk of passing the mutated gene to children.

People who carry one mutated GBA gene (who will not develop Gaucher) are more likely to develop Parkinson’s disease.

The study, “Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers,” recruited 75 people who had tested negative on genetic scans for Gaucher disease.

Researchers at the Icahn School of Medicine at Mount Sinai, who performed the study, argued that by only including people who did not have Gaucher mutations, participants would not be exposed to unwanted information about their health by participating in the study. All participants had genetic screening in preparation for pregnancy.

They completed a survey, which first explained the basics of inheriting Gaucher disease and the associated risk of Parkinson’s disease, and then asked people how they felt about the prospect of being informed of the Parkinson’s risk before screening.

A vast majority — 93.3% — of the 75 participants, who were mainly college-educated, white, non-Hispanic females, said they would have opted for screening even if they had been provided previously with the information about Parkinson’s risk.

Additionally, 86.7% agreed that everyone who is screened should be informed of the relationship between Gaucher and Parkinson’s diseases before screening. Researchers also asked if it would be more suitable to provide only those who test positive for GBA mutations with the information, but 70.7% disagreed.

The study illustrated that patients think this type of information should not be withheld. The results could help in the development of guidelines for healthcare practitioners and genetic counselors, researchers said.

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Magdalena holds an MSc in Pharmaceutical Bioscience and an interdisciplinary PhD merging the fields of psychiatry, immunology and neuropharmacology. Her previous research focused on metabolic and immunologic changes in psychotic disorders. She is now focusing on science writing, allowing her to culture her passion for medical science and human health.