Eli Pollard 00:00:14
Hi everyone, just waiting for everybody to join us. Thank you so much for registering. We'll get started in a minute.

Okay, I think I'm going to kick off. I think we got most of the people in the room. Other people will join, I think, as we get going. Hi everyone. Good afternoon. Good evening. Good morning, wherever you are in the world. My name is Eli Pollard. I am the Vice President and Chief Education and Training Officer at the Parkinson's Foundation. I am very excited to have you joining us tonight. This is the first time we've offered something like this from the professional education team at the Foundation. We've organized this webinar about PD GENEration, which, as many of you know or some of you are about to find out, is really a groundbreaking initiative advancing Parkinson's disease research around genetic counseling. It was launched by the Parkinson's Foundation. And if you're here to hear about PD GENEration, you are in the correct space tonight.

Our aim in offering this webinar really is to help you, as healthcare professionals and others. If you're not a healthcare professional, you're welcome as well. But it's really to offer healthcare professionals an opportunity to get up to speed on this initiative and to clarify how you can get involved as a healthcare professional, how you can support your patients getting involved and to explain in detail what we hope to achieve with this work. This project has evolved from the beginning when we first launched it. If you knew about it years ago, there might be some things you're not aware of and how it's actually changed. I'm happy to have you here and excited to kick off tonight.

Before I actually welcome our presenter, I just want to remind you of a few housekeeping notes: this is being recorded, and this recording will be available afterward on our website. We certainly can let you know if you'd like to watch it again. You can also submit questions at any time using the Q&A button down at the bottom of the webinar page. You can submit them at any time. Don't wait until the end. I think just submit them as they come up, but please note that we'll save your questions until the end and we'll pull them all up at the same time. And if we can't get to all of the questions, rest assured we will answer them after the webinar and we'll get responses out to you after the webinar. All right.

Let's get going here. I want to first poll our audience. I just want to know a little bit about how you're connected to Parkinson's so that we know who's in our audience. You're going to see a little poll pop up on your screen. You have about 25 seconds to answer it. What is your connection to Parkinson's disease? This is multiple choice. You can answer more than one, but ideally you're answering at least one.

We'll just wait for a response here and we'll get a sense of who's in our audience with us today. We know it's a bit of a mix of people and we want to make sure we know who's joining us. Right. Thanks, Val, for running the poll.

What is your connection to PD? We have a pretty interesting mix. We've got a mix of healthcare professionals, people with Parkinson's, and then some people representing a wide range: spouse, partner, parents, others, friend, management, admin. Great. Thanks, everybody, for joining. This helps us know who's in the audience tonight. Happy to have you all join us. And then we have a second poll question. If you want to pull that one up, Valerie, everyone can jump on that one. This is also easy, but the second one is we just want to know if you're already aware of PD GENEration. Let us know what you already know.

Valerie 00:04:25
Having a little trouble launching that poll. Just give us one second.

Eli Pollard 00:04:29
All right, thanks, Val. If we can't pull it up, Val, we could do it later, but just let us know. Oh, nice. Are you aware of PD GENEration? Pretty simple here. Yes. Yes, you're aware and you actually know someone who's participated, or maybe yes, and you yourself have participated, or no.

I think I need a little song. Doo doo doo doo. Go ahead and let us know if you're aware and what you already know, and we'll pull this. This will give Megan a sense also of who is joining us tonight.

Okay. Right, Megan, so we've got a few people who really don't know a lot about it at all, and a few people who've been involved or know someone who's been involved, and quite a few people know about it.

Very good. Thank you so much, everyone, for entertaining us with our polls. I'd like to introduce our guest presenter tonight, Megan Dini, one of our colleagues at the Parkinson's Foundation. She is the Associate Director of Clinical Research at the Parkinson's Foundation, and she will be providing an overview as well as just really exciting updates about PD GENEration. Thanks so much. And when Megan concludes her presentation, please stay on. We'll answer your questions at that time.

Megan Dini 00:06:08
Thanks so much, Eli. Hi everyone. Thank you so much for taking the time to join this webinar tonight to learn more about PD GENEration and how you can get involved in the study. As Eli said, my name is Megan Dini. I am the Associate Director of Clinical Research at the Parkinson's Foundation. I lead U.S. operations for PD GENEration. My area of expertise is really ensuring that the study is running smoothly, specifically in the U.S., by managing our study sites and making sure we're meeting our study goals, which we'll talk a little bit about today.

The purpose of the talk today is to really tell you about PD GENEration, let you know why it's important and put out a real call to action to you all to become involved in this study. I'm going to highlight some ways that you can all do that.

I want to just take a really quick moment to introduce the Parkinson's Foundation since you're all here. I'm sure you're already familiar with the Parkinson's Foundation, but just as a reminder, we're a nonprofit organization. We're dedicated to improving the lives of those living with Parkinson's by enhancing care and advancing research. Our efforts are really deeply rooted in collaboration with the Parkinson's community, and we really ensure that everything we do truly aligns with the needs and priorities of the Parkinson's community. PD GENEration and this webinar, honestly, are a really prime example of how we're working to meet those goals.

This slide just highlights the core focus areas of the Foundation, which really guide everything we do: research, care and education. Again, PD GENEration is a good example that sort of combines multiple of these pillars by really advancing research and empowering people with Parkinson's to learn more about their Parkinson's disease and ultimately improve their care.

As you're all aware, we're going to talk about PD GENEration. PD GENEration is a Parkinson's Foundation research study that offers genetic testing and genetic counseling for people with Parkinson's disease at no cost to the participant.

This is quickly what we're going to cover: what PD GENEration is and why it's important. We'll talk a little bit about the gaps it's seeking to fill and how it can benefit research and participants. I'll go over a brief history of PD GENEration and where we're at currently. I will also talk about the overall participant and study flow of PD GENEration so you can really understand the process a participant goes through when they're entering the study. If you decide yourself to participate in PD GENEration, or you refer someone to participate in PD GENEration, you can really understand the process that they'll go through, so you might be able to help answer some questions. And then I'll talk about how to get involved in the study by referring people with Parkinson's who might be interested to participate.

Megan Dini 00:08:58
To start us off, I'm going to talk about what PD GENEration is and just the overall rationale for the study.

As we all are aware, we know every person's journey with Parkinson's is truly unique. Personally, I like to consider each person's journey as like a fingerprint. Each fingerprint is really made up of different sections that are unique to that individual, such as the way they were diagnosed, their journey leading to that diagnosis, their treatment plans and their support systems. One aspect of the fingerprint that is not currently well understood, honestly, is genetics. Genetics is really important because it might serve as a key to really understanding the biology of Parkinson's.

It may give us insight into how to create better treatments and care in the future. Genetics is the field of science that really examines how traits are passed down or inherited from parents to children through genes. The study of genetics really truly begins with our DNA. Our DNA is like a cookbook that contains about 23,000 genes, or recipes, that really make us who we are. Changes in our genes, for the most part, are harmless, but in some cases they can really affect our risk of getting a disease. Clearly, genetics are very important.

However, genetic testing is not currently offered as a regular part of clinical care for people with Parkinson's. Why is that?

People with Parkinson's do not receive genetic testing because the cost is very high and it's normally not covered by insurance companies, making the tests not easily accessible. There are some direct-to-consumer panels, but normally they only test a very limited number of genes linked to Parkinson's. Also important to note, these tests are not normally accompanied by genetic counseling, which is really, honestly, a crucial step in understanding what the results mean to the person with Parkinson's and their families.

This lack of accessible genetic testing and genetic counseling really creates a major barrier in the success also of genetics-based clinical Parkinson's-related trials. Generally, clinicians and people with Parkinson's do not know their genetic makeup and if they are carrying genes potentially related to Parkinson's disease. Why genetic testing again? Genetic testing can really identify if a change in a gene, or what we could call a variant, contributed to Parkinson's disease potentially. If a variant is identified, it can really give us information about inheritance in the family, if other family members might be at risk of Parkinson's and what that level of risk might be. In some cases, genetic test results might give us more information about potential symptoms, treatment or even future progression.

Megan Dini 00:11:58
These are all reasons why PD GENEration is important and, honestly, why it was developed. The Parkinson's Foundation really sought to change the landscape of genetic testing for people with Parkinson's. This includes using certified genetic testing at no cost to the participant. The study is really, honestly, open to everyone who wants to participate regardless of age, race and gender. You'll see that when I go through the eligibility criteria that that is one of the true benefits of PD GENEration: it's very accessible. We also include genetic counseling as a mechanism to return genetic testing results to participants.

Again, it's a very accessible, very low-burden study, and participants have the benefit of getting results back because one of our goals is to really empower people with Parkinson's and clinicians with more knowledge. I really think, honestly, the returning of results is an extremely unique aspect of PD GENEration and what makes it really, really valuable to people with Parkinson's and their families.

Just to reiterate our mission of PD GENEration, the goal is really to empower people with Parkinson's and their care team. By providing people with Parkinson's the ability to attain their genetic data within a clinical setting, it will really truly help them better manage their Parkinson's disease and potentially improve their quality of life. As I already mentioned, genetic data can really offer insights into disease progression and symptom severity that could potentially influence clinical care.

Another goal of PD GENEration is to really improve Parkinson's care and research. We help provide clinicians and researchers with new tools and knowledge that might lead to novel therapies and options for people with Parkinson's disease. For example, which I'll talk a little bit more about here in another slide, our genetic data is shared with the GP2 Initiative, which allows us to hopefully greatly expand our understanding of the genetics really underlying Parkinson's. Also, our mission is to really accelerate clinical trials for Parkinson's.

There are certain clinical drug trials that target specific PD-related genes, such as LRRK2 and GBA, and those trials can find participants faster and deliver results faster if more people with Parkinson's know their genetic status.

Megan Dini 00:14:26
This slide here shows the seven genes that are included in the primary seven-gene panel for PD GENEration. Everyone who participates in PD GENEration will receive the results related to these seven genes here. Some of these genes are more rare and some are more common, like GBA1. It's important to note that while most cases of Parkinson's disease are sporadic, 15% of people with Parkinson's have a family history of Parkinson's disease, and at least 10 to 15% of people with Parkinson's carry a genetic variant with a predisposition to developing Parkinson's.

The most common genetic causes of Parkinson's include variants in the genes GBA1, LRRK2 and Parkin, although many other gene variants have been linked to Parkinson's disease.

Now I want to share a little bit about the history of PD GENEration and the current progress of the study.

PD GENEration has really gone through many different phases and iterations. It began in 2019 as a pilot study that enrolled 600 participants, and it evolved to being a registry study that enrolled 18,000 participants by the summer of 2024. Importantly, PD GENEration expanded to our fourth phase in 2024, which allows us to provide more data to researchers through the utilization of whole genome sequencing and expanding internationally. I'll talk a little bit more about specifically where we're at.

I'll show a map, but we're currently offering testing in 10 countries and plan to keep expanding within the U.S. and abroad, specifically in Latin America and Israel.

This expansion is also why we want to urge all of you to get involved in the study today by referring people with Parkinson's.

This slide shows our overall enrollment into PD GENEration. We currently have enrolled over 20,000 people with Parkinson's in the study, and we generally enroll around 600 participants a month. You can see here also some of the stats of who we enroll or who decide to participate in PD GENEration. I also want to emphasize that PD GENEration is really a great first study for people to participate in who have never participated in research before. You can see that 77% of participants have never participated in a clinical research study before.

Megan Dini 00:16:57
As I mentioned, one of our main goals of PD GENEration is to really help build a data repository for future research. To date, we have shared sequencing data from over 10,000 PD GENEration participants with the greater PD research community through our collaboration, as I mentioned, with the Global Parkinson's Genetics Program, adding significantly to their growing database. We plan to continue to release de-identified, it's all de-identified data that we're sharing, genetic data for the use of PD researchers and clinicians worldwide as we continue to expand.

This slide here highlights our global reach, which I mentioned we really expanded internationally significantly in 2024. That was one of our big goals. Currently, we're actively enrolling in the U.S., Canada, Israel, as well as Latin America. This year we plan to continue to significantly expand internationally, specifically in Latin America and Israel. As you know, gathering genetic data on people of non-Western European ancestry is particularly important. Through support from Aligning Science Across Parkinson's, as was shown on a previous slide, we've been able to achieve this significant expansion.

This slide here shows current results of our seven primary gene panel. As you can see here, 12.2% of people enrolled have tested positive. As I previously mentioned, and you can see here on this slide, the most common is GBA1 at 57.7%, then followed by LRRK2 and Parkin.

I just wanted to talk to you a little bit about whole genome sequencing and the importance of that with that transition that we made last year. Whole genome sequencing truly allows us to gather more data for researchers and also give more information back to people with Parkinson's. I'll go over in more detail the additional panels we've added in some coming slides because of whole genome sequencing. Again, this transition was really important because it allows us to really build a library of information related to Parkinson's genetics.

Previously, before our transition to whole genome sequencing, we were operating under exome sequencing. You can think about exome sequencing as sort of a single book or even a single chapter in a single book. It doesn't tell the full story. Now, with whole genome sequencing, it's really allowing us to build this entire library of information to share back with researchers.

Now I'm going to talk a little bit about the participant flow of PD GENEration and study eligibility, so you can really be informed and get involved if you're interested in referring people with Parkinson's or even participating.

Megan Dini 00:20:00
As I mentioned, PD GENEration is very accessible, and our eligibility criteria is very minimal, so a lot of people can participate. Anyone over the age of 18 with a diagnosis of Parkinson's can participate. We do offer participation in both English and Spanish. We currently don't have a stop date. We are full speed ahead with enrolling people into PD GENEration, with a goal actually to enroll 6,000 participants in the first six months of 2025.

Interested participants can enroll in person at a participating PD GENEration site or online remotely. Of note, when they do enroll online, they can enroll independently on their own, or they can schedule an appointment to meet with a research coordinator who will guide them through the process of enrolling into PD GENEration.

This slide shows our eligibility criteria.

For someone to participate in PD GENEration, they must have a diagnosis of Parkinson's disease. They must be willing to undergo genetic testing for those seven genes that I showed on the slide, and they have to be able to go through the informed consent, have the capacity to understand the informed consent or have an LAR participate on their behalf. They have to be able to go through the study activities, which are very minimal. I'll show you, but it's going through the consent form, completing a very short survey, doing the sample collection and attending a genetic counseling visit.

This is our exclusion criteria. People who have an atypical parkinsonian disorder cannot participate. The next three requirements are actually dictated by our lab because they can impact the quality of the sample analysis and actually lead to an incorrect analysis. These include people who have received a blood transfusion within the past three months, have an active hematologic malignancy such as lymphoma or leukemia, have undergone a bone marrow transplant within the last five years, or are under the age of 18.

Again, as I showed on the last slide, everyone who participates will receive results related to this primary seven-gene panel. Importantly, they'll have a genetic counseling visit regardless of if they test positive or negative for this panel. These are all the genes that are included in our seven-gene panel: GBA1, LRRK2, alpha-synuclein, Parkin, PINK1, PARK7 and VPS35.

This slide really shows the full study flow. Everyone who participates in PD GENEration will go through this whole workflow. First, the person with Parkinson's will come to our website and they will select whether they want to participate online or in person. Again, like I said, it's a newer feature that when someone selects that they want to enroll online, they can select that they want more study assistance enrolling in the study and participating in the study.

Megan Dini 00:23:15
We do highly encourage participants to use this option if they feel like they might have questions that they want asked or answered. If they need help with their at-home blood collection, we highly encourage them to use this option. The first thing is the participant will complete the electronic informed consent form, which ensures that they fully understand the study and they're agreeing to participate. We also do have a consent video that goes through the consent form and what PD GENEration is about. If someone does choose to enroll more independently without that additional support, we do have a video that explains the study and the consent form.

After the consent form is complete, then they complete a very short and simple survey. We intentionally keep it very short. It asks basic demographic questions such as name and address. It asks some questions about Parkinson's disease history, their family history and also where they receive their care. Then once this survey is completed, if they enrolled remotely on their own, they'll receive a confirmation call from a research coordinator, just ensuring that they meet eligibility criteria and that they do want to participate.

That is managed through a centralized team, either through Indiana University or at one of our other PD GENEration sites who are enrolling remote participants. Once it's confirmed, they will then receive an at-home blood collection kit called Tasso, which I'll show you all what that kit is. It's a very awesome kit that we've recently implemented that allows people to collect a blood sample at home.

After the blood sample is collected, it is then shipped to our lab using a prepaid shipping label on the Tasso kit. Once the lab receives the sample, it takes them about six to eight weeks to analyze it. Once a report is ready, they will receive a call to schedule their genetic counseling appointment. They will meet with a genetic counselor who will explain the results to them and their family. After the genetic counseling visit is completed, they will be mailed a copy of their genetic counseling report and a follow-up letter from the counselor and any other materials that might be relevant related to what their results were.

I just want to highlight after that a few things that could happen. By consenting into the study, people are consenting to be contacted by the Parkinson's Foundation about potential participation in future research studies, additional data collection and things like that. I would say the main next step for most people is participating in our secondary health findings. This is new with whole genome sequencing, so we now can give more information back to people with Parkinson's. I'll show you what is on that panel, but our secondary health findings are optional, and there are two different panels: one that has additional genes that are potentially related to Parkinson's disease and another panel with genes that are not.

Megan Dini 00:26:14
Again, that's completely optional, but basically what would happen is they go through this whole workflow for the primary seven-gene panel, and if they opted in to receive results for any of the secondary health findings panels, they wouldn't have to recollect a sample. That sample is then reanalyzed for whatever panel that they selected, and then a genetic counseling visit would occur if the result was positive, not if it was negative. That is a difference between the primary and the secondary panels.

This is the breakdown of our optional panels for additional Parkinson's-related genes, as well as 10 genes from the CDC Tier 1 list. These genes were chosen because they're clinically actionable. The 21 additional Parkinson's-related genes are genes that may be related to Parkinson's disease, rare or atypical forms of Parkinson's disease or overlapping neurological conditions. Generally, I would say these are considered to be a little bit more exploratory and were decided on by members of our steering committee. The CDC 10 genes are not related to Parkinson's disease but could be important to people with Parkinson's and their family's health.

They include variants in a limited set of health-related genes associated with specific inherited breast or colon cancers or inherited heart conditions. I will say we also maintain a full list of all these additional genes on our secondary health findings panel on our website. It is there under our study resources. We do plan to re-evaluate this list every year, so it'll most likely change or be expanded in the future. If it is, that'll be updated.

I will say, too, during the genetic counseling visit for the primary seven-gene panel, they will be asked to basically reconfirm their decision or their selection related to the secondary health findings and have the opportunity to ask a genetic counselor any questions before their sample undergoes analysis for this secondary gene panel.

Megan Dini 00:28:27
As I mentioned, new to PD GENEration and with whole genome sequencing, we now have to have a blood sample. To accommodate this, we have brought on the use of Tasso, which allows for at-home blood collection. This Tasso kit is FDA-approved and it's a small blood lancing device that can be used at home or in clinic. Basically, the device goes on the upper arm like a sticker, and you push that red button down where a sterile lancet deploys and punctures the skin and immediately retracts back in, and it cannot be redeployed.

Then basically a vacuum forms that pulls the sample out. The sample collection process takes about five minutes. Once that's done, the participant can just peel the device off. You put a cap on the tube, you put the tube in a bag, and I have a slide that goes over the contents of the Tasso kit so you can actually see what people get. Then it gets mailed off to our lab with that prepaid shipping label that's included on the kit.

The kit includes all the materials needed to collect a sample.

We have really made sure that we have extensive resources related to the Tasso kit and how to use it on our website. It's at Parkinson.org/Tasso. Last year we developed instructional videos with a person with Parkinson's using the kit and also one with a person with Parkinson's and a care partner that go through step-by-step how to use the kit. We also provide a proctoring service that participants can call and access while using the kit. It's called eMed, so basically just a live support service.

If someone receives the kit, they open it up, and they think, "Oh gosh, I really wish I had someone to live-talk me through how to use the kit," then in that kit it tells them how to contact eMed, and that is staffed and will meet with them and walk them through using the kit.

I would say we've had really good success using the Tasso kit so far in PD GENEration. We've used over a thousand kits and have received good feedback from people with Parkinson's and care partners who have used the kit. I will say, too, now with our new option when people enroll online, there's also now that option for people to meet with a research coordinator as well, if they choose the option that they want more assistance or support.

Megan Dini 00:31:00
Now I'm going to wrap up with how to get involved in PD GENEration and talk a little bit about our current study goals.

Our top 2025 goal for PD GENEration is to significantly increase our enrollment. We really truly want to empower more people with Parkinson's with knowing their genetic status related to Parkinson's and really expand our data repository for researchers. To do this, we plan to significantly increase the number of sites and clinicians we have referring into PD GENEration. We want to really increase our reach. We want to reach even more areas of the U.S. I'll show a map here of our breakdown in the U.S. so you can see, but really, we honestly truly want to encourage you all to get involved, whether you want to refer into PD GENEration or participate.

Our goal is to really reach 6,000 participants in the next six months.

Here you can see PD GENEration is found in every state. You can see here the states with the deeper blue color indicating more PD GENEration participants have participated in that state, and each individual who's participated is highlighted as an orange dot. This map just kind of gives you an idea of where most of our participants are coming from currently.

We currently have over 60 sites who are enrolling for us on site, and we have about 40 more sites who are referring people into PD GENEration by sending them to enroll online through our website. This graphic just shows some of our local sites who partner with us by enrolling people in clinic who are being seen. But really truly, our goal this year is to increase the number of sites who are referring participants into PD GENEration by having them go online and enroll online.

What does it mean to be a referral site in PD GENEration? It's very low burden. Here you can see in red the responsibility of the site, which is a very low lift. Essentially, to be a referral site, your responsibility would be to send interested people who are diagnosed with Parkinson's disease online to our website to enroll. I want to say, too, to do this, you don't need to officially be a referral site. Anyone who wants to participate in PD GENEration can go online and enroll.

But to officially be listed as a PD GENEration referral site, this is what we would ask of you, and I'll go over the benefits of being a referral site here shortly. I forgot to say this, but the entire study process, which is also outlined here, takes usually about three to four months, depending on if someone has opted into secondary health findings.

Megan Dini 00:33:48
Again, if you are a part of a practice, we invite you all to become an official referral site in PD GENEration. You would sort of become a part of the Parkinson's Foundation PD GENEration Referral Site Network. These are just some benefits to think about or consider. Your name would be listed on our website as being an official PD GENEration referral site. You'll receive an official PD GENEration referral site plaque to hang or display at your site if you want to. You'll get PD GENEration recruitment materials at no cost to you. We'll send you whatever you need.

You'll get access to Parkinson's Foundation PD GENEration communications, so you can really stay up to date with all things PD GENEration. You can also get access to PF resources. I will say we are still finalizing this process and the benefits of being a referral site, so I anticipate there will be more benefits added to this list. If you do decide to become a referral site, it would also involve the signing of a simple site agreement stating your commitment to refer eligible participants, although we wouldn't have a required referral number or anything like that.

I will say, as I mentioned, we also do have a local site model, which is more like a traditional clinical research site model that requires IRB approval and on-site enrollment and things like that. We're currently just adding a limited number of those local sites, but that could be a potential option in the future as well if that's something you'd be interested in. My email is listed on this presentation at the end. Feel free to reach out to me if you're interested in that option or even being a referral site.

Here at the end, I want to just walk you through what a participant will see. If you do decide to participate in PD GENEration, or you refer someone to participate in PD GENEration, excuse me, this is what they'll see when they go online to enroll in the study. As I mentioned, the interested participant, a person with Parkinson's, would visit our website, Parkinson.org/PDGENEration. This link is on our recruitment materials, so we have a lot of recruitment materials that we can send out as well if you're interested in those, such as our postcard that's pictured here.

Once you get to our website, essentially they will need to click that orange enroll now button. Once they click enroll now, a set of screener questions will be asked. Confirming: do they have a diagnosis of Parkinson's disease? Are they over the age of 18? And asking how they would like to enroll. Of note, I think we will also be adding soon a screener question that asks what state they reside in, but right now it's not on there.

Let's say someone selects that they want to enroll online. They'll be brought to this screen, which asks which option they would like. Like I said, there's one that they can complete immediately on their own if they feel comfortable enrolling independently on their own, but then we also have the option if they want support when they're enrolling.

Megan Dini 00:37:10
I do want to also mention on this slide that we do also have the option for Spanish online enrollment through scheduling a visit online to meet with a Spanish-speaking coordinator. Soon, we will also have the option in Spanish for fully independent enrollment for people who speak Spanish. That platform is still being built out for whole genome sequencing, transparently. On our PD GENEration Spanish-facing web page, there is an option to also enroll online, and then they would schedule an appointment and they would meet with a Spanish-speaking coordinator. We also do have Spanish postcards that link to that.

This is again the first thing that they would see when they decide to enroll online, let's say they're enrolling online independently. Our consent form would pop up with a consent video. They can watch the video and then go through the consent form.

This is the simple survey that then shows up. Again, very basic and simple questions that they'll go through and answer in the REDCap system.

Then once the survey is completed, a research coordinator would call them, confirm their eligibility, make sure that they want to participate, they understand what they're participating in and answer any questions. Then the participant would receive the Tasso kit, and they would complete the Tasso kit blood collection and send it off to the lab. I wanted to highlight, just so you can see the contents of the Tasso kit, that there are quite a few materials in there. You can see the eMed card in black on the left, so that's if someone wants additional support and wants that live service that will walk them through step by step when completing the kit.

We also have our Helpline postcard in every single kit. They're an amazing resource. I have a slide on them as well. If participants are enrolling and they have a question, they can also contact our Helpline. Our Helpline communicates directly with us as a PD GENEration team, so we can also help answer any questions too. There's also tube labels. When they're sent a kit, their label is already filled out, so it has the identifiers that our lab needs in order to process the sample. Their PD GENEration ID goes on there, their sex and their year of birth for identification. Then there's an instruction manual, and then also there's a postcard in there that informs them how to schedule a UPS pickup, or the Tasso kit can be dropped off at a UPS location.

Megan Dini 00:39:42
Here are materials related to the actual blood collection and device. There's the Tasso device with the tube. The area first needs to be heated up with the heat pack that's included and then cleaned with the alcohol pad. Then there's also a bandage for post-collection and the specimen bag that the sample goes into post-collection. Like I said, basically once the collection is done, everything comes out of that Tasso box and just the sample goes in there. It seals and then it gets shipped off.

Once the sample is collected, then the genetic counseling session would occur. Once the results are uploaded into REDCap, someone would reach out, a research coordinator most likely, to schedule a genetic counseling visit. Then the participant could meet with a genetic counselor to discuss their results. We do offer genetic counseling sessions in both English and in Spanish. Genetic counseling again is offered at no cost for participating, and genetic counselors really offer guidance and emotional support based on results.

Family members are also welcome to attend, and these sessions really help ensure participants are informed of their results and can really make informed decisions. Participants are also then welcome to share their test results back to their referring clinician as well.

Again, after they've gone through that process for the primary panel, if they opted into any of the secondary health findings panels, then their sample again, they don't need to recollect, but the sample would essentially be reanalyzed for whatever panel, one or the other or both, that they selected. Then they would get a genetic counseling visit if there was a positive result.

As I mentioned, we have tried to build in layers of support for this type of remote study. In addition to the layers that I already mentioned, I already mentioned our Parkinson's Foundation Helpline, staffed by Parkinson's specialists who can answer any questions about PD GENEration and offer support. They're amazing. It's open Monday through Friday, 9:00 a.m. to 7:00 p.m. Eastern Time. They also have an email. They answer over 26,000 calls and emails annually. Like I said, they're just an amazing resource for people who are enrolling into PD GENEration and do connect with us directly as people have questions.

Megan Dini 00:42:18
I want to definitely just let you all know: please reach out to us if you want recruitment materials for PD GENEration. We would be more than happy to send them to you. We do have two for people with Parkinson's. We have a study info flyer that sort of has next steps and also postcards that link to our website for people to enroll. We also have these in different images for different populations. We have a clinician-facing flyer that describes the benefits of PD GENEration and how to direct a person with Parkinson's to enroll in the study. Then I also do have a QR code here at the end that has a brief form that I made.

If you're interested in one of our recruitment materials or resources, just scan that and you can complete that, or you can just reach out to us directly through email.

I wanted to just highlight a couple of our recent publications. If you're interested in learning more about PD GENEration, we had two recent publications from 2024. These were also highlighted if you were in the waiting room before the talk. There's also a QR code on the screen here if you want to get access to the publication directly. You can scan it there. In August 2024, we published initial results from just over 8,000 participants' genetic results in the peer-reviewed journal Brain.

We reported that between September 2019 and June 2023, we enrolled a little over 10,000 participants, with a little over 8,000 having received their study results. We reported out variants that were found in a little over a thousand, with a 12.9% positivity of those participants. As I had already sort of mentioned, GBA1 variants were the most frequently identified at 7.7%, followed then by LRRK2 and Parkin.

I'll leave that up for just a second more. If you're interested in scanning, you can.

One other publication I wanted to highlight is a manuscript that was published in NPJ Parkinson's Disease in October of 2024 that looked at participant-reported utility of genetic testing and their interest in clinical trials. There's also a QR code on the screen if you want to scan that, if you're interested in reading the manuscript. We surveyed 972 participants who went through PD GENEration and then completed a survey, and found that most participants found their genetic counseling sessions to be useful. 81% of people reported that the sessions satisfied their curiosity.

Megan Dini 00:44:58
80% reported that it helped them feel good about helping the medical community, and 77% said that they appreciated having information to share back with their families. 45% of participants also expressed interest in participating in future research studies.

Just to close out, I just want to recap our goals for PD GENEration for 2025 and beyond. Our goals are really to continue to grow. You saw the map of the U.S. It's great. We have PD GENEration participants in every state, but we still have some holes. We truly want to expand the locations of our sites and get more referral sites into PD GENEration. We plan to continue to expand in Latin America and Israel.

Again, it was a big goal for us in 2024. It's always a high priority of PD GENEration to just continue to increase efforts for recruitment of underrepresented groups. As I've mentioned, we want to significantly increase our overall enrollment, build out our referral site network, increase the number of clinicians who are offering genetic counseling in PD GENEration at our local sites. Then, coming down the pipeline potentially, implement testing for family members of those who have a genetic link to Parkinson's.

This would be potentially available to people who have participated in PD GENEration and have tested positive for a certain gene, enrolling family members potentially of that individual. Those are some of our goals.

If you're interested in any next steps of getting involved in PD GENEration, I have two QR codes here. Again, I mentioned if you want recruitment materials, scan that, fill out the survey, tell us what you want. We'll follow up with you and send you what materials you need, including printing them for you. If you want to become a referral site, please scan this and submit your information. Again, we're really looking for more sites who are interested in getting people with Parkinson's involved. I'll leave this up for one second more.

Or if you don't want to scan, you can also reach out and email us directly. My email's on here, as well as Ismail, who's a coordinator working on PD GENEration. His email is on here. Reach out to us. That's it.

Eli Pollard 00:47:23
Thank you so much, Megan. That was just great. I've been at the Foundation for a long time. I've seen lots of presentations, but this really was just so incredibly in-depth and detailed, really quite useful and wonderful. We've gotten some great questions. I'm just going to jump right in.

I think the first question I wanted to ask was because you started to touch on this at the end of the presentation. If someone does have family members who have Parkinson's, but they themselves do not have a diagnosis, what do they need to know? What's the key takeaway here?

Megan Dini 00:47:58
If they have family members who have Parkinson's, of course family members can participate if they do have Parkinson's and they're interested in participating in PD GENEration. Their family members can participate and get involved. At this time, we're currently not enrolling people who don't have a diagnosis of Parkinson's but do have maybe potentially a genetic link or family members. Could be down the line in the future, but at this time it's only for people who have a diagnosis of Parkinson's disease.

Eli Pollard 00:48:26
What about people who might live outside of these places you've listed where the program is running? If someone is in the UK or in Germany and they really want to participate, is there a way for someone remotely to participate?

Megan Dini 00:48:40
It's a great question and one that we get asked a lot. Unfortunately right now, we're only enrolling people in the U.S. and Canada remotely. People in Latin America and Israel can participate in person on site. If there are any questions at all about where our sites are located or what sites are accepting participants within the U.S. and outside the U.S., go on our website because we have all of our sites listed out when you click enroll now, enroll in person. Those are all listed. Of course, if people are interested outside the U.S., send us an email. We'd love to know where the interest is at.

It can just kind of help us gauge for future expansion where we might be able to make PD GENEration available. I will say it's tough to expand in certain areas just because of lab requirements. All of our sample collection is CLIA-certified, which requires certain types of labs and blood sample shipping, but we would love to hear from you all, though, if you're located in a different area and you want to become involved with PD GENEration. Just reach out to us.

Eli Pollard 00:49:48
I think you've sort of answered the next question, but I'll ask it anyway. One of our guests, our viewers, asked the question because one of the goals is to get data from people of non-European origin. Is there a particular reason why, say, African countries are not currently included in the expansion plan?

Megan Dini 00:50:10
It's a great question. I think in an ideal world, we would be everywhere. Ideally. I think last year, to be fully transparent, was sort of an infrastructure-building year for us. We went from exome sequencing to genome, and we had to establish a lot of different and new pipelines for us. Now that we've done that and we've started a partnership with sites in Latin America and building that out, it is building blocks. We've gotten our base now. We have sort of our target areas for this year, but I anticipate we're just going to keep building and expanding.

Eli Pollard 00:50:49
That's a great answer. I mean, it's capacity, right? If you were to be everywhere in the world, it's going to require massive, you're going to have to hire a whole new team, Megan. But on that, as a follow-on to that, you've talked about the evolution of this project, this research going from exome to whole genome sequencing. Let's say someone got tested three years ago and now we've got whole genome sequencing. Can they come back and get tested again?

Megan Dini 00:51:17
It's a really, really great question. There's not a reason to re-enroll into PD GENEration if someone's already participated. They don't need to necessarily re-enroll. But if someone is interested in receiving some additional results or secondary health findings, we would encourage them to reach out to us directly and we can kind of have a discussion of what their sample looks like and if they need to re-enroll or not, if they're interested in receiving more results. I would just encourage them to reach out to us directly. We also have a genetics email, which I don't have on here, but they could also reach out to the Helpline, who would then connect them to us as well.

Eli Pollard 00:51:54
Very good. I just want to invite our viewers: we're coming down sort of to the last questions. If you have any questions, please submit them to the Q&A. No question is too crazy. We want them all. We'll get through whatever we can before we wrap up.

The next question is just a basic one, really. Megan, is there someone like yourself or someone else from the team available to virtually speak to different, say, local support groups or clinics, kind of like you're doing now, but maybe not for an hour, maybe something simpler, whatever. Are you guys available to do that?

Megan Dini 00:52:29
Yes. We are happy to come and speak virtually. We're all kind of all over the U.S. If we're near your clinic or support group, we'd be happy to show up in person, but yes, our team is happy to give a presentation on PD GENEration, what it is and how you can enroll. We've spoken at local support groups. We've done virtual talks at support groups. We've presented to different clinics or groups or practices that might be interested in participating in PD GENEration. The answer is yes. Reach out, let us know, and we'll get a member of our team there to talk about PD GENEration.

Eli Pollard 00:53:07
We've got a great question here about access to the data. I know that, Megan, can you talk a little bit about how researchers, I mean, this is potentially a massive research project for researchers, right? How does a researcher request access to the data, and can for-profit companies purchase or get access to the data? How does that all work if someone's interested from that angle?

Megan Dini 00:53:30
It's a good question. If a researcher is interested in looking at the raw data, the de-identified data that, again, doesn't contain any identifying information, you could reach out to us and submit a proposal on what you would want to use the data for, specifically our PD GENEration data. You can reach out to us, and it'll have to go through our steering committee and things like that.

No, we'll never sell the data or anything like that. Also, I will say it's available through the GP2 and AMP PD sample repository. We're part of a consortium that's building a big database of genetic data. It also goes into the AMP PD database as well for access for research too.

Eli Pollard 00:54:18
Okay, excellent. I think that's the whole idea, right? Collecting this data will hopefully simplify the lives of researchers trying to actually look for people with these genetic genes so they don't have to go out and find 500 people to participate in a study. They're already going to be collected and potential candidates. It's moving research faster. I think that's exceptional.

One question, Megan, is what is sort of right now, where we have almost 21,000 people who've done genetic testing, what's sort of the end goal here? Are you going to hit 50,000 and then say, okay, we're done? What is the big vision? What is the dream of the work of the team that's behind this work?

Megan Dini 00:55:02
It's a really good question. To be honest, we don't have a stop date in mind. Our goal is to really just continue on and increase. Like I explained in the beginning of the presentation, genetics is still not yet well understood and there's a lot there to be learned. That's why really our main goal this year, why we want to increase recruitment, is to really, like I said, not only empower more people, but to continue to build up that data repository, so there's more information for researchers, and honestly to continue to expand to non-European ancestries and things like that.

The information is lacking right now, so I think we're still in that mode of: let's still try to gather as much data as we can to really empower researchers. I would say that's our more immediate goal, but I will say we are truly full speed ahead with PD GENEration.

Eli Pollard 00:56:03
I think the big dream, and correct me if I'm wrong, but I think the big dream and the vision here is that eventually one day genetic testing will become just standard protocol for people going into a Parkinson's office. It won't be this special thing. It'll just be something like, generally, people who have breast cancer, generally women but people who have breast cancer, are always offered genetic testing with the BRCA gene. This would eventually, in a big dream, in a big vision, one day just become standard protocol, I imagine.

Megan Dini 00:56:35
I think that would be amazing. I do think, too, another thing as well that I mentioned that's really important with PD GENEration is empowering people with more knowledge related to their genetic status and if they are positive for a certain gene, because then it makes them eligible for certain clinical trials. That could be really beneficial to them that they wouldn't know they were eligible for. There's more coming down the pipeline, and so that also is a priority and part of the vision.

Eli Pollard 00:57:02
Amazing. That's great. I want to thank you. I think we're going to wrap up. We don't have any more questions in the queue right now. But as Megan said, there's contact information up on the screen. If you do come up with a question later on, make sure you take a photograph of that, a screenshot of that. You can reach out to those connections and ask a question at any time. The team is amazing. Megan, really incredible. Thank you so much for joining us at the late end of a day. I know you've had a long workday. We really appreciate it. And I'm just really grateful for everybody's time today and tonight, wherever you are in the world. We look forward to engaging you more with our PD GENEration project. Thanks so much, Megan.

Megan Dini 00:57:46
Thank you.