Core Focus: the Genetics Coordination Core

The PPMI study cores are responsible for a wide range of study needs including analyzing, storing, and performing quality control measures on the study data and specimens; providing supplies, guidance, and support to study sites; and  overseeing performance and study management.  In this core spotlight, Genetics Coordination Core Principal Investigator Tatiana Foroud, PhD and her team explain their role in PPMI.

What is the Genetics Coordination Core (GCC)?

The PPMI Genetics Coordination Core (GCC) is located at Indiana University School of Medicine. The GCC works directly with PPMI sites that are recruiting potential genetic cohort and genetic registry participants and on PPMI?s internet-based recruitment, the Widespread Recruitment Initiative (WRI). The GCC also leads a new PPMI study component called the Family History Sub-Study that is just beginning.

What are the goals of the GCC?

Site Responsibilities

The GCC is responsible for providing blood and saliva collection kits for genetic testing to PPMI sites, and for cross-checking subject information found on the Genetic Mutation Form (GMU) with data entered into the Clinical Trials Coordination Center (CTCC) eClinical database which is managed by the Clinical Core. In addition, all LRRK2 mutation testing results are sent to the GCC for entry into the CTCC eClinical database.  This process triggers official study cohort assignment.  (See the Genetics Operations Manual)

Widespread Recruitment Initiative (WRI)

The Widespread Recruitment Initiative is an internet-based recruitment tool that allows potential PPMI participants to be screened, consented and provided with LRRK2 testing without having to visit a PPMI site.  The purpose of the WRI is to identify and screen individuals at increased risk of the LRRK2 mutation, who may be willing and eligible to participate in the PPMI study.

Family History Sub-Study

The GCC also leads the Family History Sub-Study. This effort obtains family history information from LRRK2 or SNCA positive individuals. These data are used to identify relatives participating in the PPMI study and compare that information with DNA results to confirm reported family relationships. In addition, relatedness is often used in analyses as a covariate in the analytic model.

Tracking Progress

The GCC leads efforts to track the consent and enrollment of participants who have received genetic testing results, either through a PPMI site or through the Widespread Recruitment Initiative. This is accomplished through regular calls between the GCC coordinator and each PPMI site coordinator. These calls review the status of each individual identified by the site or referred to the site by the WRI who is eligible for participation in either the PPMI genetic cohort or genetic registry. From these calls, the GCC can help identify approaches that sites can use to maximize their ability to consent and enroll subjects into PPMI.

What is the most frequently asked question by prospective participants going through WRI?

Many participants want to know how many people have qualified for the study and what percentage of study participants have been found to carry a LRRK2 gene mutation, and if other members of their family should participate.

How does the GCC support the PPMI study sites?

The GCC reduces burden on sites by providing blood and saliva collection materials.  The GCC also plays an important role in querying initial data to ensure that collection forms and biological specimens are accurately matched. The WRI greatly reduces site burden by recruiting, screening, mutation testing and providing genetic counseling to individuals all prior to referring the LRRK2+ individuals on to a PPMI site for participation.

What are the latest changes in PPMI Genetics?

All WRI participants who complete genetic counseling are asked to complete a post-counseling survey to assess how well they have understood the information presented and to evaluate the telephone counseling process. The responses from this survey will help to improve the process for all participants.

Can you share any key insights from your PPMI experience thus far?

PPMI study participants appear to be a very interested, educated and motivated group.  Many have elected to participate due to their strong desire to contribute to Parkinson disease research as well as to better understand their risks or their family members? risks for developing Parkinson disease.