A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.
Tara A JonesJeanine SchulzeSharon A AufoxJason RothsteinAishwarya ArjunanPublished in: Journal of assisted reproduction and genetics (2022)
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.
Keyphrases
- parkinson disease
- end stage renal disease
- healthcare
- deep brain stimulation
- ejection fraction
- newly diagnosed
- quality improvement
- copy number
- chronic kidney disease
- peritoneal dialysis
- palliative care
- genome wide
- clinical practice
- gene expression
- dna methylation
- patient reported outcomes
- pain management
- chronic pain