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Recommendations on Genetic Counseling for Gaucher-Parkinson’s Link Are Needed, Researchers Argue

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Thursday, July 13, 2017

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Although people with Gaucher disease have a higher risk of developing Parkinson's disease later in life, the link between the two diseases is rarely addressed in a genetic counseling setting.

But in implementing new strategies for genetic counseling, questions need to be discussed that are specific to the settings in which genetic counseling is performed, argue two researchers from Indiana University School of Medicine.

Knowledge about the association between Gaucher and Parkinson's diseases is very poor among patients with both types of diseases, the researchers showed. But there is also a lack of information on the part of healthcare professionals.

Published in the Journal of Genetic Counseling, their article, "Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings," noted that healthcare professionals generally lack recommendations and guidelines on whether and how the connection should be discussed with patients.

Gaucher is a disease that is caused by mutations in the glucosylceramidase beta (GBA) gene. The same gene is often mutated in people with Parkinson's disease. The general consensus among healthcare professionals has been that for people who carry only one faulty gene copy, there are virtually no health consequences.

But the connection to Parkinson's disease might prove otherwise.

Since the two diseases affect people in varying stages of life, adapting counseling is not a straightforward task. For example, many people at risk for Gaucher disease opt for prenatal and carrier screening to estimate the risk of disease for future children.

Should the risk of Parkinson's be discussed in this setting? It could affect both carrier parents, who might wish to stay vigilant to any signs of coming disease, as well as influence their reproductive choices.

And if a patient with Parkinson's disease is found to have a mutation in the GBA gene, should the link to Gaucher disease be lifted? This information could be relevant to other family members.

The researchers also argued that discussing the association between the conditions before any genetic tests are performed might be relevant because at this time, life, long-term, or disability insurance is not covered by the Genetic Information Nondiscrimination Act.

Knowledge of the genetic risk to develop one or both of these conditions could potentially influence a range of life decisions.

To approach this complex issue, the duo suggested that it is crucial to establish the knowledge, practice, and comfort levels of healthcare professionals and genetic counselors in various clinical settings.

But a more formal dialogue is also needed, they said, to develop recommendations on how to counsel and educate people at risk for both conditions.

Author: Magdalena Kegel
Source: Gaucher Disease News
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