Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants

Motor and nonmotor heterogeneity of LRRK2‐related and idiopathic Parkinson's disease

“…First‐degree family members of the index patient were also invited to participate whether they carried a mutation in the LRRK2 gene or not. These individuals were included for comparison with nonmanifesting carriers and to avoid the inadvertent disclosure of molecular test results to the subjects at those sites where genetic tests were not reported to the participants …”

“…These individuals were included for comparison with nonmanifesting carriers and to avoid the inadvertent disclosure of molecular test results to the subjects at those sites where genetic tests were not reported to the participants. 21 The study cohort comprised subjects who carried a mutation in the LRRK2 gene and had PD (manifesting carriers, MCs), subjects who carried a mutation in the LRRK2 gene and did not manifest PD (nonmanifesting carriers, NMCs), subjects who had a confirmed clinical diagnosis of PD but did not carry an LRRK2 mutation (iPD), and subjects who did not carry a mutation in the LRRK2 gene and did not manifest PD at the time of enrollment. Mutations in genes other than the LRRK2 were not tested for at most sites; however, participants carrying GBA mutations were excluded from participation at the Tel Aviv site.…”

The prodromal phase of leucine‐rich repeat kinase 2–associated Parkinson disease: Clinical and imaging Studies

“…Study participants were then dichotomized to subjects with LRRK2 gene mutations, but did not manifest PD (NMCs) and subjects without a LRRK2 mutation and without having PD (nonmanifesting noncarriers; NMNCs). These individuals were included as controls for comparison to NMCs as well, in order to avoid the inadvertent disclosure of genetic results to the subjects in those sites where genetic tests were not reported to the participants …”

Disclosure of research results in genetic studies of Parkinson's disease caused byLRRK2mutations

“…In contrast, 7 of 11 sites reported that "few" at-risk family members were interested. 3 In a study of genetic attitudes limited to the subgroup of participants at the New York Ashkenazi Jewish (AJ) LRRK2 Consortium sites and older individuals with PD (LRRK2 carriers and noncarriers) were less likely to "definitely/probably" want to pursue genetic testing than younger subjects. Across demographic groups, subjects were more likely to want testing if they perceived results as influencing early prevention, treatment, or medication response.…”

“…whether disclosure is mandatory for different groups of subjects (eg, those with PD vs. those without). For example, in the United States (Clinical Laboratory Improvement Amendments), 3 Germany (Genetics Diagnostics Act), 4 and Israel (Genetic Information Law), 5 federal law dictates that results may be disclosed only if performed through a certified or accredited laboratory. In Spain, results can be disclosed from research laboratories without necessarily being confirmed by an accredited clinical laboratory, although usually a separate sample is drawn.…”