Episode 67: PD GENE: Genetic Counseling

Dan Keller 0:08

Welcome to this episode of Substantial Matters: Life and Science of Parkinson's. I'm your host, Dan Keller. At the Parkinson's Foundation, we want all people with Parkinson's and their families to get the care and support they need. Better care starts with better research and leads to better lives. In this podcast series, we highlight the fruits of that research—the treatments and techniques that can help you live a better life now, as well as research that can bring a better tomorrow. In most cases of diseases with a genetic component, genes are risk factors that can modify the chances of developing the disease or affect its course or severity. Genes in themselves are not a diagnosis. Testing for various genes that may be disease risk factors is now common, but a laboratory result should not stand in isolation. There are many factors to consider before deciding to get a genetic test, such as what one will do with the result, how it may affect other members of one's family, and even how it may affect the ability to get certain forms of insurance. Then, once results are in hand, questions arise about how to interpret them and how to put any risk factors into perspective. This episode marks the third in our PD GENEration podcast series in which we'll be providing you with quarterly initiative updates. This episode marks nearly 100 people enrolled in PD GENEration; by the end of 2020, the Parkinson's Foundation aims to enroll 600 participants in the study. I speak with certified genetic counselor Jenny Verbrugge about the role of genetic counseling in helping a person decide whether to get tested and what to make of the results if they do get tested. She first gives an overview of the purpose of genetic counseling.

Jenny Verbrugge 2:10

Genetic counseling is a process that provides education and support to patients and families surrounding the genetics of a condition or disease. So we might discuss how a condition may impact an individual, but we also discuss how that condition may impact their family members as well. Genetic counseling is different than genetic testing, although genetic testing is maybe a very important component of a genetic counseling session, but a person doesn't need to have had a genetic test to see a genetic counselor. For example, for some conditions or diseases, there may not be any genetic testing available, and then, as well, a person may still benefit from meeting with a genetic counselor, even if no genetic testing is available. Like I mentioned, some people just want to understand what their risks might be, or what their family members' risk might be.

Dan Keller 3:03

Why would someone need genetic counseling? What does it do for them, especially in light of having had a genetic test?

Jenny Verbrugge 3:11

People might want to meet with a genetic counselor for a number of different reasons. They may meet with a genetic counselor before or after having genetic testing, or both. Sometimes the meeting before having genetic testing, we may help a person kind of work through the risk, benefits, and limitations of that genetic test, and then meeting with a genetic counselor after having genetic testing, what we do is help people understand the meaning of their genetic testing.

Dan Keller 3:40

Are there positive and negative aspects to getting genetic testing? If so, can you tell me some examples?

Jenny Verbrugge 3:49

Absolutely, and considering both the positives and negatives of genetic testing is actually a really important part of what we try to help people understand. So some of the positives of having genetic testing is genetic testing can sometimes give people answers. And for some people answering the question of, you know, "Why did this happen to me?" or "Why did this happen in my family?" are very important questions. Sometimes genetic testing can give people more answers about what to expect in the future. Genetic testing results can sometimes provide more information about risk to family members, like we discussed, and for some conditions and diseases, genetic testing can sometimes help direct specific treatments. Now, we're not quite there with Parkinson's disease, but researchers are really hoping that we'll get there soon, and genetic testing can also sometimes identify people who might be eligible to participate in certain research studies concerning some of these targeted treatments.

Dan Keller 4:49

Now that you bring that up, the Parkinson's Foundation is beginning a big project called PD GENEration that's going to test ultimately like 15,000 people. What is that supposed to reveal?

Jenny Verbrugge 5:01

I think the hope there is there's a big move in research in disclosing genetic test results back to people, because people really want to know and understand the results of genetic testing. So I think it's twofold: so it may help us understand more about the genetic basis of Parkinson's disease, but then the hope, really, is to empower people to have information so they can use that information in certain circumstances to help to participate in research.

Dan Keller 5:31

Can it benefit the research by identifying different subgroups of either genetic risk or people with certain forms of Parkinson's disease? I guess at this point, the thinking is it's not all one uniform disease. If you ask people to participate in clinical trials, does it help to have the same sort of people in the trial so that your result really is specific to them? For example, if you have two different subtypes of a disease and one responds well to a drug and the other responds poorly, on average, it looks like the drug doesn't do anything, so you're muddying the waters. So is it a really good idea from this kind of research to be able to identify subtypes of people with Parkinson's?

Jenny Verbrugge 6:13

Yes. I mean, I think researchers are hoping that understanding the biology and the genetics of Parkinson's disease—hopefully that will help inform treatments and what kind of treatments may benefit some people better than others. Absolutely.

Dan Keller 6:29

Are there limitations to genetic testing? What can't it tell us?

Jenny Verbrugge 6:32

Absolutely there are limitations to all genetic tests, even the newer technologies. So even the genetic tests that can sequence a person's entire genome in one single test has limitations. And that's actually what genetic counselors hope to do is to help people understand, kind of navigate all the technical aspects, especially of these newer genetic tests and technologies, and to really understand the limitations—understand the information that it does give, but also understand at the same time the information that perhaps it can't give somebody.

Dan Keller 7:08

I suppose one of those pieces of information it can't give is: how do I overcome my risk? It doesn't change risk, it only informs people, I take it.

Jenny Verbrugge 7:18

This is an area that researchers are trying to learn more about: how does some of this genetic information—these different gene variants—how does it inform risk for a disease like Parkinson's disease? Also, how might it change the chances of maybe certain symptoms developing? These are all areas where researchers are really trying to explore some of this information, and we don't necessarily have all the answers yet. In some circumstances, we have better information than in other areas of Parkinson's disease. And again, this is specifically why researchers are really wanting to encourage people to participate in research.

Dan Keller 7:56

Are there legal safeguards for what happens to the results?

Jenny Verbrugge 8:00

There are legal safeguards. There is a federal law called the Genetic Information Nondiscrimination Act that does help to protect people, helps to prevent genetic discrimination, which we think that the instances of genetic discrimination are rare, yet it is a big concern for many people. The other thing to consider is that GINA does have certain limitations. It applies mainly to the area of health insurance and employment. It does not apply to, for example, long-term care insurance, disability insurance, life insurance. So it's also important for people to recognize some of those limitations of the law as well.

Dan Keller 8:43

If they come to see you before they get genetic testing, do you explain these sort of upsides and downsides to them?

Jenny Verbrugge 8:48

Absolutely. And this is actually a fairly common question that people have; they really want to understand, you know, "What are the protections out there, and what should I think about?" So absolutely. So discussing these sorts of legal issues sometimes is a very common question that we get from people.

Dan Keller 9:06

I know in certain societies, if someone has a disease or a risk for a disease, it could, for example, affect the marriageability of a cousin. I know this has happened in the Middle East with cancer and things like that.

Jenny Verbrugge 9:19

Yeah, and that's certainly, I think, you know, the arena of genetic discrimination is certainly an arena that needs more research. So we really need to—because people have concerns—we really need to understand better where those concerns stem from. And, you know, while we do have these protections and we think that they are effective, I think you point out a good point that there's still some area where we need to have some better understanding there.

Dan Keller 9:43

Is there a difference in home genetic testing—you send your sample away—and what's done formally in a medical setting, either in terms of quality or in terms of what you learn, what the results are?

Jenny Verbrugge 9:56

There can be differences; the use of the tests are a bit different, and of course, direct-to-consumer genetic testing has a whole host of issues. That said, the results from a test like that can still be informative, and with some of the companies that do these tests, they can still be done in a laboratory that meets certain quality measures. On the other hand, they are different than clinical genetic tests that are offered in a clinical setting. So I think it's certainly important to kind of understand the differences and the uses that are quite different.

Dan Keller 10:34

I suppose also there's the idea that genetic testing looks at everything. It's sort of more specific. You look for a specific change in a gene.

Jenny Verbrugge 10:44

Right, right. So and genetic tests, like we talked about earlier, the technologies are really growing. And so there are definitely different types of genetic tests out there with focuses on, obviously, different conditions. Even within different conditions, different genes—like, for example, with Parkinson's disease, that's quite complicated. There's multiple different genes that we know, and different changes or variants in different genes that can be associated with Parkinson's disease. So yeah. So that is, you know, part of what genetic counselors do is really to try to help people understand the complexities of these different genetic tests out there, and what genetic tests might be a better fit for one person versus another, depending on the condition and the situation.

Dan Keller 11:30

What's the take-home message to someone considering genetic testing, either direct-to-consumer sense or going for a specific risk of a specific disease in a clinical setting?

Jenny Verbrugge 11:41

I would say for both settings: ask questions. Ask your doctor, and if your doctor doesn't have the answers to those questions, genetic counselors can be great resources. Ask your doctor if you can be referred to speak with a genetic counselor who can hopefully answer some of your questions. And that goes for both genetic testing in a clinical setting, in a research setting, a direct-to-consumer test. So genetic counselors—we're basically here to help people, help answer their questions, help get their questions answered if we can't answer them, help to support them through the testing process again, before testing or after testing, or sometimes it's both. So I would say just certainly ask questions and make sure you get all your questions answered.

Dan Keller 12:28

Is genetic testing widely available to most everybody in the country?

Jenny Verbrugge 12:33

It's definitely growing in its accessibility and its availability, but there are barriers. So for certain conditions, for example, like Parkinson's disease in a clinical setting, doctors don't always use it so much yet, because it doesn't necessarily change treatment or management of Parkinson's disease in a dramatic way, at least not yet. So for that reason, we use the term "clinical utility"—you might hear that in the medical world—so it has limited clinical utility at this point. That said, it can still be very helpful for many people, and certainly from a personal utility standpoint, people find genetic testing or may find it very useful, very informative. So it can certainly still benefit a person, but unfortunately insurance companies may not cover the cost. It can sometimes be very costly, depending on the type of testing. And so sometimes that can be a barrier, and it's an important barrier that, you know, I think people need to consider if they're really interested: "Will my insurance cover this test, and if not, what is the cost of this test?"

Dan Keller 13:45

Very good. Is there anything important to add or that we've missed?

Jenny Verbrugge 13:48

I think I already kind of mentioned this, but I would just say that as a genetic counselor, we're definitely here to help people. We definitely want to support people through helping them get educated, helping them learn about the genetics of a condition. We like to tailor the session to a person's needs. Some people need really more informational needs. We're also there to help people through the emotional aspects. Sometimes there can be implications of genetic testing. So we're definitely here to kind of help people manage all aspects. And so we're definitely here and available. Just reach out to us.

Dan Keller 14:33

To learn more about PD GENEration, you can visit our website at parkinson.org/PDGENEration. You can find more information about genetic counseling, the ongoing PD GENEration study of genes associated with PD, and how you may be able to enroll in it. Participation, genetic testing, and counseling are all free. Also be sure to listen to the first two episodes in the PD GENEration podcast series—episodes 61 and 64—to learn about the background of the study. The National Society of Genetic Counselors provides good general information on their website at nsgc.org. To find a genetic counselor with particular expertise in PD, search our website to find a Parkinson's Foundation Center of Excellence near you, or call our helpline at 1-800-4PD-INFO to speak with one of our PD Information Specialists in English or Spanish. They can also answer questions about genetic counseling or anything else having to do with Parkinson's. If you have questions or want to leave feedback on this podcast or any other subject, you can do it at parkinson.org/feedback. If you have enjoyed this podcast, be sure to subscribe and rate and review the series on Apple Podcasts or wherever you get your podcasts. At the Parkinson's Foundation, our mission is to help every person diagnosed with Parkinson's live the best possible life. Today, to that end, we'll be bringing you a new episode in this podcast series every other week. Until then, for more information and resources, visit parkinson.org or call our toll-free helpline at 1-800-4PD-INFO, that's 1-800-473-4636. Thank you for listening.

Jennifer is a certified and licensed genetic counselor in the Department of Medical and Molecular Genetics (MMGE) at the Indiana University School of Medicine. She received a Master of Science degree from the Indiana University Genetic Counseling Program in 1998 and she worked as a prenatal genetic counselor for 16 years before joining MMGE in 2014. Since joining the department in 2014, Jennifer has been involved with several Parkinson’s disease research initiatives involving genetic testing, disclosure of genetic research results and telephone genetic counseling. Jennifer helped develop and implement a telephone genetic counseling process for a subset of participants in the Parkinson’s Progression Markers Initiative (PPMI) study, an observational study sponsored by the Michael J. Fox Foundation for Research that follows groups of people with and without Parkinson’s disease.

Jennifer is a member of a genetic counseling team at Indiana University that has provided telephone genetic counseling to over 11,000 Parkinson’s disease research study participants. Jennifer has assisted with the development and implementation of the genetic counseling process for the PDGENEration study, a national initiative sponsored by the Parkinson’s Foundation that offers free genetic testing and genetic counseling for people with Parkinson’s disease. She is a member of the Indiana University Human Research Protection Program (HRPP) Working Group on the Return of Research Results, the Indiana Network of Genetic Counselors (INGC) and the National Society of Genetic Counselors (NSGC). Jennifer’s research interests include evaluation of telephone genetic counseling services and examining the impact of genetic testing and genetic counseling on research participants.