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PD GENE Study Suggests Feasibility of Wider Parkinson's Disease Genetic Testing

Widespread genetic testing for Parkinson's disease is feasible, according to results from an initial phase of the PD GENEration (PD GENE) clinical trial. PD GENE was launched in 2019 and provides free genetic counseling and testing for people with Parkinson's disease, with the first phase of the study focusing on the feasibility of testing as well as interest in such testing. As the Columbia University Medical Center-led team reports in Genetics in Medicine, they enrolled 620 people between early September 2019 and early January 2021 into their multicenter, exploratory pilot study. The participants were randomized to receive results and counseling locally by genetic counselors or neurologists or to receive counseling remotely by genetic counselors. The researchers found no significant difference, as gauged by follow-up surveys, in knowledge or satisfaction between the study arms. "Our evidence suggests that clinicians without specific training in genetic counseling but armed with PD genetics education and clinical experience, can satisfactorily disclose PD genetic test results and provide concomitant counseling to their patients," the researchers write.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.