1. PPMI 2018 ANNUUAL INVESTIGATORS MEETING May 2-3

2. Enrollment of LRRK2 and GBA Genetic cohort
Tatiana Foroud

4. How do we efficiently identify mutation carriers?

5. 16,106 Consented 10,165 8,700 Counseled Kits Sent 1546
1,084
Previous Results
10,165
Kits Sent
8,700 Counseled
1546
Mutation Carriers

6. Observed mutations among the carriers
Number
LRRK2 (G2019S)
689
GBA (N370S*)
811
LRRK2 + GBA 46
Totals
1546
Referred to PPMI
1457*
* 89 individuals not referred to PPMI for a variety of reasons (decline, ineligible, lost to follow-up)

7. participants Recruited?
How were PPMI
participants Recruited?
*Pulled 4/26/18

8. Genetic Mutations Enrolled in PPMI
LRRK2
GBA
Cohort PD
Cohort UN
Registry PD
Registry UN
Het Wt
136
184
146
140
Hom 3 5 9 4 67
123 53 99 6 1 2 11
Totals
215
324
208
258
*Pulled 4/26/18

9. Mutations Enrolled IN PPMI
LRRK2
GBA
SNCA
G2019S
N370S
G209A
R1441G
L483P or L444P
I2020T
84GG 
N1437H
R463C
R1441H
R496H

10. Jenny Lola Jeanine Amanda Malia Susan
Verbrugge Shukla Schulze Miller Rumbaugh Selby

11. Genetic Counseling Outcomes in the
WRI PPMI Study

12. Previous Genetic Counseling Outcomes
A post-session knowledge survey assessed participant understanding to measure the impact of genetic counseling
Results showed a high level of knowledge (average score, 86.4%).
Significance limited by our highly educated participants and the absence of a pretest
To avoid overburdening participants with a pretest, the knowledge survey was replaced with a satisfaction survey
Between April 30, 2014 and November 30, 2014, 650 participants were counseled about their LRRK2 G2019S test results and ed the survey link. Of these, 354 (55.1%) returned a survey

13. Genetic Counseling Satisfaction Survey (GCSS)
Strongly disagree
Disagree somewhat
Uncertain
Agree somewhat
Agree strongly
1. My genetic counselor seemed to understand the stresses I was facing. 1 2 3 4 5
2. My genetic counselor helped me identify what I needed to know to make decisions about what would happen to me.
3. I felt better about my health after meeting with my genetic counselor.
4. The genetic counseling session was about the right length of time I needed.
5. My genetic counselor was truly concerned about my well-being.
6. The genetic counseling session was valuable to me.

14. Genetic Counseling Satisfaction Survey Scores
GCSS score
P value
Total responders
27.0 (n=376)
PD: Affected
25.0 (n=94)
0.0001
PD: Unaffected
27.8 (n=277)
Gender: Male
27.3 (n=212)
0.30
Gender: Female
26.7 (n=164)
Mutation: positive
25.9 (n=62)
0.0045
Mutation: negative
27.2 (n=314)
Leah, I didn’t see the male/female data more mean scores or the p-values to include in the chart on the left. For the p values we want to know if scores between groups were significantly different (PD vs unaff, Male vs female, mut + vs mut -).
Lola, I can get participant numbers from the other studies and put them in the chart on the right. I am pretty sure they are much smaller than ours.
(maximum score 30)

15. GCSS survey responders similar to non-responders
p value
Total
374 (48.8%)
392 (51.2%)
Mean age
64.8
63.2
p=0.01
Male (%)
162 (43.3)
173 (44.1)
p=0.82
PD (%)
92 (24.9)
100 (26.0)
p=0.11
Mutation + (%)
62 (16.6)
61 (15.6)
p=0.15
LRRK2 + (%)
21 (33.9)
16 (26.2)
p=0.61
GBA + (%)
41 (66.1)
45 (73.8)
p=0.36
Family history
of PD (%)
44 (11.9)
52 (13.5)
p=0.51
Conclusions:
The overall response rate was very good and consistent with our previous surveys- almost 50%!
Responders were not different than non-responders (for Pd, gender, and mutation status)
Leah; was the % of LRRK2 + people different in responders vs non responders?
Same question for GBA +

16. GCSS scores in PPMI compared to other studies
Study population
GCSS score
Standard deviation
Sample size
Parkinson disease
27.0
3.9
376
Cancer1
26.9 61
Prenatal2
27.7
3.1
129
Leah, I didn’t see the male/female data more mean scores or the p-values to include in the chart on the left. For the p values we want to know if scores between groups were significantly different (PD vs unaff, Male vs female, mut + vs mut -).
Lola, I can get participant numbers from the other studies and put them in the chart on the right. I am pretty sure they are much smaller than ours.
1 Demarco et al. 2004
2 Tercyak et al. 2001

17. Mutation Positive Individuals
Recruitment of
Mutation Positive Individuals
PPMI has developed efficient approaches to screen and identify mutation position individuals
Telephone genetic counseling has been effective
This approach could be used for other studies and other disorders