Unlocking Insight
We appreciate and value the insight, knowledge and expertise of everyone involved in this interview.
ONC: How does genetic testing contribute to our understanding of Parkinson’s disease?
UNC: The very first cases of Parkinson's disease (PD) with a clear genetic cause opened up new understanding of PD for everyone. The SNCA gene makes the protein alpha-synuclein. Before the very first cases of people living with Parkinson's disease caused by extra copies or changes in the SNCA gene were found, no one knew that alpha-synuclein is a key part of Parkinson's disease pathology. Now there are skin biopsy and cerebral spinal fluid tests for abnormal alpha-synuclein, and new potential treatments in development for everyone living with PD that focus on alpha-synuclein. As more variants in more genes were uncovered, we learned more about PD for everyone, like the role of mitochondria in PD. We’ve also learned a lot about how these genes and the proteins they make contribute to normal brain biology. There are new clinical trials using this information to create and test new kinds of disease modifying treatments. For example, finding variants in the LRRK2 gene that greatly increase risk of PD led to new understanding
THE ROLE OF GENETIC TESTING IN UNDERSTANDING AND MANAGING PARKINSON’S DISEASE
of LRRK2 protein function in brain cells, and then to ways to potentially modify LRRK2 protein function in everyone living with PD. UNC is a site for the PD GENEration study, which is working on two fronts: getting diagnostic genetic testing information to patients, and helping discover new genetic causes of PD. The more we find, the more pathways we have towards new treatments and cures for PD.
ONC: How does genetic testing affect an individual patient vs. an overall understanding of the disease?
UNC: We are in an exciting new era where diagnostic genetic testing gives us more individualized immediate treatment information, and is driving development of treatments that are for people living with PD caused by pathogenic variants (“mutations”) in a specific gene.
For the past half-century, doctors and researchers specializing in Parkinson’s disease have observed that no two individuals with the disease are alike: some experience tremors, while others may never develop any; some notice symptoms in their 50s or 70s or even 30s; some people’s care focuses on tremor or hand coordination while others focus on anxiety, blood pressure changes, problems with balance, or cognitive change. Such variations in symptoms and their progression have always been intriguing: How
can we do better predicting individual journeys with PD symptoms? Why do some people have very mild symptoms or slow progression? Can we use that understanding to improve disease course in everyone living with PD?
AS SCIENTISTS DISCOVERED MORE AND MORE GENE VARIANTS LINKED TO PARKINSON’S DISEASE, A RACE BEGAN TO MAP EACH PATIENT’S UNIQUE SYMPTOM COMBINATION TO KNOWN GENETIC PROFILES. UNDERSTANDING THESE GENETIC DIFFERENCES AMONG PEOPLE LIVING WITH PARKINSON’S DISEASE CAN OFFER VITAL INSIGHTS INTO WHY EACH PERSON’S EXPERIENCE WITH THE DISEASE VARIES.
While there is still a lot of research to do on how different genetic causes of PD impact care plans, we are already able to use genetic information to make individualized care plans, such as looking out for early changes in blood pressure control or assessing potential deep brain stimulation surgery earlier rather than later. Just last week our Neurogenetics team met with a patient with a duplication in the SNCA gene and a patient with mutations in the PRKN gene to go over individualized PD symptom care plans. There are also multiple clinical trials underway that are focused just on PD caused by variants in specific genes, such as GBA.
ONC: What specific genes are associated with an increased risk of developing Parkinson’s disease?
UNC: In clinic we are focused on genetic variants that contribute very high risk – so high that if someone has PD and has one of these genetic variants we think that genetic variant is doing most or close to all of the work to cause PD in that individual. About 15 percent of people living with Parkinson’s disease have a variant in a gene that is doing most or nearly all of the work to drive PD symptoms in that person. Many of these people do not have a family history of PD. We now know about dozens of these genes! The most common ones you may hear about are LRRK2, GBA, PARK2 (now called PRKN), PARK7, PINK1 and the SNCA gene.
There are also many genes associated with risk of Parkinson’s disease at the population level. This means that each genetic variant contributes a very small increase – or decrease – in the overall risk of developing
PD symptoms. This small impact can be measured when researchers look at data from thousands of people with and without PD, but is not useful on the individual level.
ONC: According to a recent study by Alcalay (via Columbia University), testing companies vary in the number of genes they test for. How do patients know how many genes to test for and which companies are best?
UNC: As mentioned above, even if we stick to very high risk genetic variants, there are dozens of genes linked to causing PD. Some of these genetic variants have been reported in hundreds or thousands of people, while others have been reported in just a handful. Some genetic variants are harder to test for than others, because of how the gene is built or because of the type of variant. Finally, different clinics have contract agreements with different labs, so testing through one genetics lab may be available at one clinic and not at another. There is no one best company or list of genes. To make testing easier, a panel of physicians and researchers is working to standardize the specific genes recommended for testing, aiming to streamline options in the future. Right now, at UNC we work on first principles: start with the largest possible list from a high-quality laboratory. This is also called a “panel”. Understand which genes are on the panel, and what kinds of genetic variants the lab’s technology can find. For example, are they testing for changes in the SNCA gene and for extra copies of the SNCA gene? None of these panels will include every gene ever reported in PD. Have a plan B: what happens if the result is negative – can we cast a wider net and look for rare or even previously unknown genetic variants? Terms you may have heard for this wider net is whole exome sequencing or whole genome sequencing. What happens if the result is unclear? Can we work with a research lab to clarify the findings?
MULTIPLE STUDIES EMPHASIZE THE IMPORTANCE OF GENETIC COUNSELING TO GUIDE PATIENTS THROUGH POTENTIALLY COMPLEX OR AMBIGUOUS RESULTS.
Our Neurogenetics clinic pathway is to start with a joint movement disorders neurologist – genetic counselor visit so we can make the best genetic testing recommendations for that individual, patients and
families understand testing recommendations, and both patients and the clinical care team are set up for success to understand results. This approach has also helped us argue for insurance coverage of diagnostic genetic testing.
Initiatives like the Parkinson’s Foundation’s PD GENEration study offer free genetic testing and counseling. This important initiative boosts access to genetic testing and genetic counseling, particularly if there are financial barriers to testing. PD GENEration is a research study, so DNA samples contribute to the discovery of new PD related genetic variants. Currently PD GENEration reports back data on specific changes in 7 genes. Free genetic counseling is available before testing, and always provided with results. A negative result may mean that the person has a clear genetic cause of PD that is not on that panel. For perspective, some commercial panels have more than 60 genes. When PD GENEration reports a negative result, we usually encourage moving on to clinical (commercial) testing, especially if we think there is a high chance of finding a genetic cause for PD for that individual.
Finally, people living with PD may choose direct-toconsumer testing like 23andMe. More on that below.
ONC: How accurate are current genetic tests for identifying Parkinson’s-related genes?
UNC: While diagnostic genetic testing for Parkinson’srelated genes offers valuable insights, it is important to understand that current tests yield a range of answers. Sometimes labs identify a genetic variant that only has limited or ambiguous information available. Even when a clearly high risk genetic variant is found, this is just part of the puzzle: other genetic factors, environmental exposures, and life experiences can impact that person’s range and severity of symptoms.
Genetic test panels only include a portion of all known Parkinson’s-related genes, and more high risk PD genetic variants are identified every year, so it is possible for someone to carry a mutation and still get a negative genetic testing result.
Because of these complexities, having a genetic counselor guide you through testing choices and then test results is essential to understanding what genetic findings mean for you and your family. Genetic counseling can clarify the risks, limitations, and potential next steps, making it an invaluable part of the testing process.
ONC: Can genetic testing tell me if I will get Parkinson’s?
UNC: The short answer is no. Genetic testing cannot tell you if you will definitely develop, or definitely not develop Parkinson disease in the future.
We already talked about how a negative genetic testing panel result doesn’t mean that person does not have a high risk PD genetic variant. It just means that the exact variants tested are not present. Known variants that were included in the panel, or variants we don’t know about yet could contribute to future development of PD.
What if you have no symptoms, but your genetic testing uncovers a high risk PD genetic variant? Positive genetic testing results are usually not yes/no answers. For most PD related mutations, some people carrying that mutation will never develop the disease—a phenomenon known as “incomplete penetrance.”
For example, 60% of people with a LRRK2 genetic variant develop PD but 40% never do. Different genetic variants within the same gene may carry varied levels of risk, further complicating predictions.
Many people, up to about 85% of people living with PD develop PD symptoms due to a combination of many genetic and nongenetic factors that each contribute a little increased or decreased risk of PD. We only know about some of these factors, and how they all add up to PD symptoms. These factors are likely at play in everyone, including people with high risk genetic variants. This is one explanation for reduced penetrance. Researchers are working to better understand who gets Parkinson's and why (also please see the answer to the question above).
A genetic counselor can help explain the risks associated with PD genes and what genetic testing results may mean for you. This is critical for people with no symptoms who are considering “predictive” genetic testing. Making an informed decision about predictive testing includes understanding what the testing can and cannot tell you, why and when you as an individual may choose to go forward with predictive testing, and preparing ahead to handle pros and cons of testing. Once you have test results in hand, going over results, including negative results, with a genetic counselor is a key part of our clinic’s predictive genetic testing pathway.
ONC: What are the benefits of undergoing genetic testing for someone with a family history of Parkinson’s disease?
UNC: Undergoing genetic testing for someone with a family history of Parkinson’s disease can offer several potential benefits. If the person considering genetic testing also has PD and is looking for diagnostic genetic testing, we have a greater chance of finding a high risk genetic cause.
Usually we get this question from people with no symptoms. When the family members living with PD has a known PD related mutation then testing someone in the family who does not have symptoms can focus on that specific mutation. The benefit is to clarify whether the “at risk” person does or does not carry the same mutation. This yields very specific information on future PD risk.
Often the family members living with PD do not have a known genetic cause, or we are unable to confirm PD is even the best clinical diagnosis for them - they may live far away or may be deceased. If possible, we recommend starting with diagnostic genetic testing of the family member(s) with PD. This helps people living at risk understand genetic testing options. If this is not possible, we help fold that into the pros and cons discussion for predictive testing.
Risk Assessment: Genetic testing can help determine whether an individual has specific genetic mutations associated with an increased risk of developing Parkinson’s disease. This can provide valuable information about their likelihood of developing the condition, although it is not a yes/no answer about whether that person will definitely develop PD.
Informed Decision Making and early intervention: Knowing one’s genetic status can aid in making informed decisions such as monitoring for early symptoms, and healthcare planning. Most importantly, it can motivate people to think about life experiences they have some control over. We know many nongenetic PD risk factors are outside individual control but some, like exercise, are at least partly in our control. It can be powerful to do something positive for your brain. There is already a lot of great information out there about how exercise, good quality nighttime sleep, and diet can help manage symptoms more effectively and potentially slow disease progression, for example pushing off or dampening cognitive changes. Finally, clinical trials are starting to work with people with high risk genetic variants and little or no symptoms. We are early in this process. In the future, disease modifying treatments will probably be available to people with high risk genetic variants. While we are all eager for that future, right now you can already do
positive things for your brain!
Emotional and Psychological Preparedness: For some people, understanding one’s genetic risk can help individuals prepare emotionally for potential future health challenges. This knowledge can help formulate plans and strategies for coping with the disease’s possible progression. For others, it is psychologically more important to not do predictive genetic testing. Again, working with a genetic counselor to explore the best choice for you is especially important in predictive testing.
ONC: Are there any risks with genetic testing for Parkinson’s disease?
UNC: Yes, genetic testing for Parkinson’s can carry potential risks, so it is important to make an informed decision.
Diagnostic genetic testing risks are mainly receiving incomplete or difficult to interpret results. This can lead to inaccurate understanding of your genetic status and what is driving PD in you. Because most tests only cover a limited number of Parkinson’s-related genes, a negative result does not guarantee that a person does not have a clear genetic cause of their PD.
Predictive genetic testing, meaning seeking genetic testing for people without symptoms, carries more risks. Again, understanding test results can be challenging. A negative result does not mean that person will not develop PD, and a positive result may not be able to predict the onset or severity of symptoms. Learning genetic test results can cause unexpected emotional reactions. Some people may experience anxiety, stress or even depression in reaction to results, including negative results, while others may be surprised at positive reactions to results. Genetic counselors are trained to support people through this process, including identifying risks and establishing emotional supports before, during, and after genetic testing.
Genetic testing also has implications for family members, as results can raise questions about whether other relatives should consider testing. Deciding whether and how to share genetic information with family members is part of the testing process. Finally, there are legal protections against some forms of genetic discrimination. These bar use of genetic information in workplace decisions, and for denying medical care insurance. However, people can still be denied life insurance or long term care insurance based on genetic
To navigate these risks, consulting with a genetic counselor before testing is essential. A genetic counselor can discuss your family history, motivations for testing, and the implications of the results, helping you understand limitations, benefits, legal risks, and potential emotional impacts. Current testing primarily provides insight into genetic risk rather than a definitive diagnosis, especially in people without symptoms. Genetic testing results have lots of information, sometimes complex. Genetic testing, especially diagnostic testing, can have significant benefits, but best approached thoughtfully to ensure you are prepared for any possible outcome.
ONC: How can genetic information influence the treatment of Parkinson’s disease? Does genetic testing affect care?
UNC: Genetic testing for Parkinson’s disease provides valuable insights that benefit both individuals and their families. While it does not yet significantly change standard care for most patients, testing can aid in the personalized management of the disease by helping healthcare providers tailor treatments and strategies more effectively based on genetic information. Identifying specific genetic mutations may enable doctors to group patients with similar profiles, potentially leading to more precise treatment approaches that address unique disease mechanisms. Additionally, genetic testing can reveal whether a patient qualifies for clinical trials of therapies targeting particular mutations associated with Parkinson’s disease. Though most current PD treatments are not yet specifically tailored to individual genetic mutations, ongoing research in this area continues to advance. By uncovering genetic aspects of Parkinson’s, testing enhances understanding of the disease’s biology, which is crucial for developing targeted therapies. Ultimately, genetic testing helps improve care for current patients now and for future generations, contributing to a stronger foundation for effective treatment and prevention.
ONC: How accessible and affordable is genetic testing for Parkinson’s disease currently?
UNC:
• Clinical: Diagnostic genetic testing for people living with Parkinson’s disease is available through several
commercial genetic testing laboratories, with panels that analyze approximately 40 genes linked to the condition. Testing costs may be covered by insurance, though the out-of-pocket cost will vary based on the specific insurance provider and plan. This comprehensive genetic test can be ordered by a treating neurologist or a clinical genetic counselor in neurology. At UNC we usually offer pre-test visits with a movement disorders neurologist plus a genetic counselor. Post-test genetic counseling is recommended to ensure a thorough discussion of the results and their implications. For predictive genetic testing, for people with no symptoms, we strongly recommend a genetic counselor meets with the person before testing and orders any testing, to ensure patients are empowered to make informed supported decisions. Neurogenetic counseling is available through UNC. Also, visit https:// findageneticcounselor.nsgc.org/ for a directory of genetic counselors in the United States. They can locate genetic counselors for access to both inperson or virtual genetic counseling services.
• Research: Research programs are no cost to patients. Some but not all return genetic testing results to patients. PD GENEration, sponsored by the Parkinson’s Disease Foundation, provides free genetic testing of 7 PD-related genes, for individuals diagnosed with Parkinson’s disease. Participants can enroll online and complete an at-home blood collection kit, or enroll in-person at a PDGENEration site such as UNC Chapel Hill. This study also provides a free genetic counseling appointment in person, over video or via phone to review your results.
ONC: Do you think genetic testing should be a standard part of diagnosing Parkinson’s disease? Why or why not?
UNC: Yes. I do [Dr Testa]. While we have a long way to go to make truly mutation-specific care plans, we can already use genetic information in symptom management. We already have some specific information to use to get ahead of symptoms, like monitoring for potential early cognitive change in people with variants in the GBA gene. To me, the bigger benefit is empowering PD patients with information about their own genes, brains, and bodies. Parkinson’s disease is a “clinical” diagnosis. This means that an individual’s history, symptoms, and physical exam are used to make the diagnosis. There is not a specific lab or imaging test that can diagnose Parkinson’s disease.
However, certain imaging, blood, and other tests can be used to support the diagnosis of Parkinson’s disease or to rule out other medical conditions that can mimic PD. In contrast, genetic testing provides a genetic, or “molecular” diagnosis for people living with PD. This means we put the PD clinical diagnosis and the highrisk genetic variant data together to explain what is driving PD in that individual.
PATIENTS
FREQUENTLY TELL ME HOW IMPACTFUL UNDERSTANDING THEIR GENETIC DIAGNOSIS IS FOR THEM.
Beyond the benefits for individual patients, genetic testing can offer valuable insights into potential treatments for the broader Parkinson’s population. Recent studies show that, even in those without specific genetic variants, certain proteins (such as LRRK2) are unusually active in the brain tissue of Parkinson’s patients, which could be linked to brain cell damage. This type of research holds promise for advancing our understanding and treatment options for all of Parkinson’s disease.
ONC: There are direct-to-consumer tests such as 23andMe. Do you recommend these tests for individuals?
UNC: Direct-to-consumer tests are convenient, and usually cheaper than testing through a clinic, especially for people with no symptoms. However, we do not recommend these tests. Genetic tests offered on a direct-to-consumer basis may not be as comprehensive, meaning they test fewer genes and fewer specific genetic variants compared to PD GENEration (free, limited panel) or clinical testing.
DIRECT-TO-CONSUMER TESTS MAY NOT BE CLINICALLY VALIDATED AS MANDATED FOR THOSE ORDERED AND INTERPRETED BY HEALTHCARE PROFESSIONALS AND BY A CLINICAL GENETIC TESTING LAB, OR FOR THOSE DONE THROUGH RESEARCH AND RETURNED TO RESEARCH PARTICIPANTS BY A GENETIC COUNSELOR.
A big consideration is that direct-to-consumer genetic testing does not provide genetic counseling. Lack of personalized genetic counseling may lead to misinterpretation, limited test accuracy or scope, and insufficient information on broader health, familial, and emotional impacts of testing.
Genetic counseling provides individuals with insights into the personal health and management implications of their test results, as well as potential eligibility for clinical trials and familial risk factors. It also addresses possible emotional and social impacts, offering supportive guidance both before and after testing that empowers patients to make the best decisions for themselves, and then to best understand their own genetic information.
We recommend genetic testing through platforms that include both pre- and post-test discussions. This allows individuals to fully understand the risks, benefits, and results of the testing.
ONC: What are the biggest myths related to genetic testing for Parkinson’s and other diseases?
UNC:
1. Genetic Testing Guarantees an answer: Many people believe that a positive genetic test definitively confirms they will develop Parkinson disease, or that a negative genetic test means they are “in the clear.”
MOST GENETIC TESTS CAN ONLY INDICATE AN INCREASED RISK OR PREDISPOSITION, NOT A CERTAINTY OF DEVELOPING THE CONDITION IN THE FUTURE.
Even diagnostic genetic testing in PD may not yield a clear answer. A negative diagnostic genetic test in someone living with PD does not mean they do not have PD, it just means the main cause of PD for them, genetic or nongenetic, was not covered in that testing panel.
2. Genetic Testing is Invasive and Complicated: Many fear that genetic testing involves invasive procedures or complex processes. In fact, most genetic tests are performed using simple blood samples or saliva, making it accessible and relatively straightforward.
3. Genetic testing is very expensive: People may avoid testing because they assume a much higher cost than what they actually encounter.
COSTS FOR GENETIC TESTING VARY WIDELY. DIAGNOSTIC TESTING MAY BE FULLY COVERED BY INSURANCE. UNC financial assistance health care coverage does cover genetic testing and genetic counseling. Some
initiatives like PD GENEration provide limited but high quality free diagnostic testing with free genetic counseling.
ONC: What are the greatest barriers to patients’ access to testing, and how can these barriers be addressed or overcome?
UNC: Accessing genetic testing for Parkinson’s disease can be challenging for many patients due to several key barriers. Out-of-pocket costs and inadequate insurance coverage make testing financially inaccessible for some. Advocacy for better insurance coverage and clinical research to demonstrate the utility of genetic testing in managing Parkinson’s is vital. Free genetic testing and personalized genetic counseling may be available through ongoing research projects offered by various foundations such as Parkinson’s Foundation (PD GENEration study), the Michael J. Fox Foundation (PPMI study and Fox Insight), and other groups (ROPAD Centogene).
People may live far from clinics that offer genetic testing or genetic counseling. New care models are helping with that. For example, UNC Neurogenetics offers genetic counseling and movement disorders neurologist services via in home video telehealth for people living in North Carolina. We are also growing “in clinic” telehealth options with UNC affiliated partner clinics to serve people living in communities with limited in home cell phone or internet access. Some clinical testing labs will ship saliva or cheek swab kits to people’s homes. Lobbying your state and federal elected representatives to maintain and expand these care delivery models helps lower barriers to testing. Some research studies such as PD GENEration may send in-home blood test kits to participants.
EVEN WHEN THERE IS READY ACCESS TO GENETIC TESTING, PATIENTS AND HEALTHCARE PROVIDERS MAY BE BIASED AGAINST TESTING FOR SEVERAL REASONS, SUCH AS WORRYING THAT DNA INFORMATION MAY BE USED IN WAYS THEY DO NOT UNDERSTAND OR CONTROL.
Ensuring access to qualified genetic counselors can help guide patients through the testing process while addressing ethical concerns related to privacy and discrimination, particularly for predictive testing (in people with no symptoms).
Patients and clinicians often lack sufficient awareness and understanding of genetic testing in PD, leading to misconceptions about its benefits and limitations; for example, assuming that diagnostic genetic testing is only important when there is a clear family history of Parkinson’s disease. There is a perceived lack of clinical usefulness. Many patients are uncertain about how genetic test results might influence their treatment options. Once people living with PD are motivated to seek genetic testing, they may have trouble finding clinicians to partner with. According to one study (https://www.nature.com/articles/s41436-019-0684-x), the majority of skilled neurologists specializing in Parkinson’s disease care were uncomfortable providing counseling for PD-related genetic tests. These findings demonstrate that even among neurologists —who are experts in PD—there is an urgent need to educate clinicians as well as patients about the utility of genetic testing and how to properly disseminate clinical information on genetic testing in PD.
To tackle these issues, we and many others are working to provide better access to neurogenetics care, including genetic counselors, plus provide clear, accessible information about genetic testing for Parkinson’s disease for everyone.
ONC: What resources would you recommend for anyone interested in getting testing or providing this option for a family member? Where can people go for more information and to get started?
UNC:
University of North Carolina (UNC) UNC Parkinson's Foundation Center of Excellence https://www.med.unc.edu/neurology/divisions/ movement-disorders/npfcoe/
UNC Precision Medicine and Neurogenetics https://www.med.unc.edu/neurology/divisions/ neurogenetics
Clinical care referrals form: https://www.med.unc.edu/neurology/divisions/ neurogenetics/clinical-services/
UNC PD GENEration team
Visit the UNC PD GENEration Team Website https:// www.med.unc.edu/neurology/divisions/neurogenetics/ research/ or contact us to learn more about the study at (919) 525-1757 or email pdgenestudy@unc.edu
The UNC PD GENEration team is partnering with the PARADIGM initiative to provide information on genetic testing that addresses questions from many different communities:
https://www.med.unc.edu/ppmh/initiatives/promotingadvocacy-and-research-awareness-for-diversity-ingenomic-medicine-paradigm/
National Society of Genetic Counselors
https://findageneticcounselor.nsgc.org/ for a directory of genetic counselors in the United States. They can locate genetic counselors for access to both in-person or genetic counseling services
Parkinson’s Foundation
Genetics and Parkinson’s Disease Information https:// www.parkinson.org/understanding-parkinsons/causes/ genetics
PD GENEration in person enrollment sites: In-Person
Enrollment | Parkinson’s Foundation
PD GENEration en espanol https://www.parkinson.org/espanol/investigacion/ pdgeneration
The Michael J. Fox Foundation
Navigating Clinical Trials Book: Chapter 3 “Genetics and Parkinson’s Clinical Research” https://www.michaeljfox. org/sites/default/files/media/document/011519_PDEC_ PATIENT_GUIDE_CAN_WEB_linked.pdf
https://www.michaeljfox.org/news/parkinsons-genetics https://www.michaeljfox.org/what-know-about-genetictesting
Educational Video: “The Answer Inside Us: Parkinson’s Genetics” michaeljfox.org/news/watch-ourlatestwhiteboard-video-answer-inside-us-parkinsonsgenetics (also can be found on https://www.youtube. com/watch?v=jH5AgYMeOT0)
Educational Webinar: “How Genetic Discoveries Lead to Parkinson’s Therapies” (CME accredited) michaeljfox. org/webinar/how-genetic-discoveries-lead-parkinsonstherapies-0 (also can be found on https://www.youtube. com/watch?v=6zShRxKBBq8)
Rostock International Parkinson’s Disease Study (ROPAD) https://www.centogene.com/pharma/clinicaltrial-support/rostock-international-parkinsons-diseasestudy-ropad
National Center for Biotechnology Information houses
The Genetic Testing Registry (ncbi.nlm.nih.gov/gtr/), provides updated lists of commercial laboratories, including their website links, for all types of genetic testing including PD testing.
CAREGIVER CORNER: RECOGNIZING CAREGIVER BURNOUT
Ashley Seace, AOS Care Manager – ashleys@aoscaremanagement.com
We’ve all heard the term “burnout,” which can be easy to recognize in someone else and challenging to see in ourselves. AOS Care Manager Ashley Seace helps us explore the signs of burnout and offers suggestions to address burnout if we are experiencing it. Caregiving is hard. Burnout happens. Let’s talk about it, so we can all feel rested, energized and ready to give others (and ourselves) our best.
SIGNS OF CAREGIVER BURNOUT:
Emotional Exhaustion:
• Feeling emotionally drained or overwhelmed.
• Experiencing feelings of hopelessness or a trapped feeling
• Feeling irritable, frustrated, and angry
Physical Exhaustion:
• Chronic fatigue or extreme tiredness
• Experiencing changes to your appetite, weight, and sleep
• Increased risk for illness or infection and neglecting your own physical health
Mental Exhaustion:
• Experiencing confusion and forgetfulness and have difficulty remembering or organizing things
• Feeling overwhelmed by the demands of being a caregiver
• Not taking care of your own personal needs and withdrawing from social activities
• You should also be on the lookout for neglect of the individual you are caring for, an increase in substance use such as alcohol or drugs, and changes in your relationships with family and friends.
AVOIDING CAREGIVER BURNOUT:
• Ask for help. Reach out to the people who care about you and let them know what is going on.
• Take time to care for yourself. Practice mindfulness, start up a hobby, spend time with your family and friends, and take time away from caregiving when appropriate.
ACROSS
1) Baby bleater
5) Blood and acid, for two
10) Preschool lesson
14) Field of expertise
15) It may accompany waves on 51-Across
16) Tantrum-prone kid
17) One month after New
20) Topps rival, once
21) Scraped
22) Apply crudely, as paint
25) Per
26) Degree for a CEO, often
29) "1,001_"
31) Ice Ca pad es performer
35) Dadaist Jean
36) Deserving praise
38) Archaeological find
39) New Year's Day
43) Bakery appliance
44) Largest of the Florida keys
45) A start for "few"
46) Kingdoms
49) Spot for Hitchcock's
50) "You, over there!"
5 l ) Hawaii's "Gathering Place"
53) Dutch cheese
55) Like some cars, colorwise
58) NBA position
62) One month before New
65) Place for a nice apple
66) Princeton athlete
67) Furniture wood
68) Sean in Hollywood
69) Dictator's helper
70) Put in a hold
DOWN
1) Joke response, in entertainment mags
2) Seed covering
3) " A_ formality"
4) "_ on a true story"
5) Guiding principle in Chinese philosophy
6) Worker up north?
7) Parlor perch
8) Monetary unit of Botswana
9) Israeli natives
10) Capital on the Persian Gulf
11) Scottish hill
12) Hand part
13) Porky pen
18) Severe emotional shock
19) Scrabble tiles holder
23) End_ (ultimate customer)
24) Emerald, for one
26) Thatcher's successor
10) Preschool lesson
14) Field of expertise
15) It may accompany waves on 51-Across
27) Atlanta player
16) Tantrum-prone kid
28) Snorer's disorder
30) Guitar relative
17) One month after New Year's
32) Weight for Miss Liberty
33) Follow logically
34) Take another crack at
20) Topps rival, once 21) Scraped
37) Little-pigs complement
22) Apply crudely, as paint
40) Free from restraint
45) A start for "few" 46) Kingdoms
49) Spot for Hitchcock's "Window"
50) "You, over there!"
5 l) Hawaii's "Gathering Place"
53) Dutch cheese
55) Like some cars, colorwise
58) NBA position
41) " Ods bodkins!"
25) Per
42) Search for food
26) Degree for a CEO, often
47) Actor LeBlanc
29) "1,001_"
48) Photo opportunities
52) Out of shape
31) Ice Capad es performer
62) One month before New Year's
65) Place for a nice apple
66) Princeton athlete
67) Furniture wood
35) Dadaist Jean
54) Illness that is a swell time?
55) Become bored
36)Deserving praise
56) " Beau Geste" author
38) Archaeological find
57) Perimeter
59) "This won't hurt_"
39) New Year'sDay
60) "Divorce capital," once
61) Obtained water
62) Modern way to transfer docs
63) Poet's dusk
64)_-Magnan
DAY ONE
68) Sean in Hollywood
69)Dictator's helper
70) Put in a hold
