Genetic Recruitment. Genetic Coordination Core
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1 Genetic Recruitment Genetic Coordination Core
2 Genetic Arms Recruit for: LRRK2: G2019S, R1441G, I2020T SNCA: A53T, G209A GBA: N370S Other mutations can be found in these genes Limited the range of mutations Only mutations that have been shown to increase the risk of PD Select mutations that we can find in multiple families
3 LRRK2 Testing at PPMI Sites Salerno Tuebingen Banner PI Uwash CCF BU INDD London UPenn UAB Tel Aviv Paris USF Emory Beth Israel Columbia Northwestern Norway San Sebastian Barcelona LRRK2- LRRK Number of Subjects Tested
4 LRRK2 Testing at PPMI Sites Salerno Tuebingen Banner PI Uwash CCF BU INDD London UPenn UAB Tel Aviv Paris USF Emory Beth Israel Columbia Northwestern Norway San Sebastian Barcelona Boca LRRK2- LRRK Number of Subjects Tested
5 SNCA Testing at PPMI Sites Greece Salerno SNCA- SNCA Number of Subjects Tested
6 GBA Testing at PPMI Sites Northwestern UAB Pending GBA- GBA+ Boca Barcelona Number of Subjects Tested
7 Widespread Recruitment Initiative Number of Subjects LRRK2+ individuals identified! 0 Sent kit Results returned Positive LRRK2 G2019S With previous testing LRRK2+ G2019S GBA+ N370S
8 Genetic Counseling in WRI Over 975 individuals have received genetic counseling as part of the WRI Jennifer Verbrugge, MS, CGC Lisa Cushman Spock, MS, PhD, CGC
9 Widespread Recruitment Initiative Registry with PD Registry Unaffected Cohort with PD Cohort Unaffected # of individuals referred
10 WRI Site Referrals Site Name Tel Aviv CCF Uwash UR Hopkins USF Oregon London UCSF INDD Baylor Boca Emory BU Upenn PI Banner UCSD Columbia Beth Israel Northwestern # of subjects
11 Rochester Columbia OHSU Baylor PI Upenn USF UCSD Johns Hopkins Emory INDD BU UAB UCSF Beth Israel Northwestern UWash CCF Banner Paris Boca Tuebingen London San Sebastian Barcelona Norway Salerno Tel Aviv Greece Genetic Registry PD Genetic Registry UNAF Genetic Cohort PD Genetic Cohort UNAF Number of Subjects
12 Current Enrollment Genetic Registry PD Genetic Registry UNAF 78 Number of Subjects Enrolled Genetic Cohort PD Genetic Cohort UNAF SNCA LRRK2 GBA Total
13 PPMI Goals for Genetics 600 cohort 300 PD 300 unaffected 600 registry 300 PD 300 unaffected
14 150 LRRK Genetic Registry PD Genetic Registry UNAF Genetic Cohort PD Genetic Cohort UNAF LRRK2 Actual LRRK2 Target 60 SNCA Genetic Registry PD Genetic Registry UNAF Genetic Cohort PD Genetic Cohort UNAF SNCA Actual SNCA Target
15 How will we reach our study recruitment goals? Working together
16 Upcoming Recruitment Plans: 23 and Me Sending s to individuals with positive results for: LRRK2 G2019S ( individuals) GBA N370S (~2500 individuals) 23 and Me sending these s in waves to states with PPMI sites Individuals directed to WRI Rapid referral to sites following confirmation of genetic test results and genetic counseling
17 Upcoming Recruitment Plans: WRI Newsletter being sent to all WRI LRRK2- individuals (n=820) Invite individuals to come back to WRI Sign Informed Consent for GBA N370S testing MGH perform genetic testing Typical WRI referral Subjects complete genetic counseling Subjects referred to PPMI site with typical paperwork
18 Don t stop with one person, recruit families WRI identified LRRK2+ individuals During counseling, obtain a pedigree During counseling, discuss opportunity for family members to participate (including nonclosure of test results) We reviewed the pedigree and the WRI database to identify family members who came through WRI At least 1 family member participating (%) No other family members participating currently (% ) Totals MGH tested 51 (52%) 47 (48%) 98 Previous testing 9 (22%) 31 (78%) 40 totals 60 (43%) 76 (57%) 138
19 Take home! LRRK2 recruitment is going well Need to keep looking for new probands Need to try to recruit other family members GBA is likely to be very productive recruitment Outreach in place to start SNCA still challenging Need to expand recruitment, if possible
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