Is There Genetic Testing For Parkinson Disease

Genetics Testing In Parkinsons Disease

Genetic testing in Parkinsons disease can play an important role in diagnosing the illness. Scientists hope that the knowledge provided by genetics will ultimately help slow or stop its progression.

Genes are carried in our DNA, units of inheritance that determine the traits that are passed down from parent to child. We inherit about 3 billion pairs of genes from our mothers and fathers. They determine the color of our eyes, how tall we may be and, in some instances, the risk we have in developing certain diseases.

As a physician, I know the role that genetics plays in determining our health. The degree of influence that our genes have varies depending on the disease, but both environmental factors and genetics contribute to the development of illness to some extent.

Assay And Technical Information

Invitae is a College of American Pathologists -accredited and Clinical Laboratory Improvement Amendments -certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology .

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Bioinformatics

Clinical interpretation

We provide customers with the most comprehensive clinical report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals regardless of whether they have formal training in genetics.

How Is Parkinsons Disease Treated

There is no cure for Parkinsons disease. However, medications and other treatments can help relieve some of your symptoms. Exercise can help your Parkinsons symptoms significantly. In addition, physical therapy, occupational therapy and speech-language therapy can help with walking and balance problems, eating and swallowing challenges and speech problems. Surgery is an option for some patients.

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Genes Connected To Parkinson’s

SNCA

In 1997, researchers at the National Institutes of Health made the first Parkinsons genetic connection, discovering that mutations in the SNCA gene were common in several families who had many members with Parkinsons. While mutations in this gene are rare, they have taught us invaluable information about PD.

The SNCA gene instructs the body to make the protein alpha-synuclein, which for reasons that are not yet known, clumps in the brain cells of people with PD. Study of the SNCA gene led to this understanding that applies to nearly all people with the disease. Since then, alpha-synuclein has been a major target of new drugs for Parkinsons.

LRRK2

Another gene that plays a role in Parkinsons is LRRK2, which accounts for one to two percent of all cases. For people of particular ethnic backgrounds Ashkenazi Jewish and North African Berber descent mutations in the LRRK2 gene account for a much greater number of cases than in the general PD population. Mutations in LRRK2 lead to too much activity of the LRRK2 protein, though recent research indicates people without a mutation can also have overactivity of LRRK2.

Shake It Up are funding several studies into LRRK2 and you can learn more about these here.GBA

PRKN

Genetic Discrimination And Protection

When thinking about having genetic testing, patients and research participants may worry about genetic discrimination and privacy. Fortunately, genetic discrimination has not been as large of a problem as first anticipated.

Under the 2008 Genetic Information Nondiscrimination Act , individuals are protected from genetic discrimination related to health insurance and employment. This protection does not cover long-term care, disability, or life insurance, and does not apply to active-duty military or employers with less than 15 employees. State laws may offer additional protection not contained in GINA. Other laws may apply to privacy protection of an individualâs genetic information, another potential area of concern.

For more patient information on these topics please visit:

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Genetics Testing In Parkinson’s Disease

Genetic testing in Parkinson’s disease can play an important role in diagnosing the illness. Scientists hope that the knowledge provided by genetics will ultimately help slow or stop its progression.

Genes are carried in our DNA, units of inheritance that determine the traits that are passed down from parent to child. We inherit about 3 billion pairs of genes from our mothers and fathers. They determine the color of our eyes, how tall we may be and, in some instances, the risk we have in developing certain diseases.

As a physician, I know the role that genetics plays in determining our health. The degree of influence that our genes have varies depending on the disease, but both environmental factors and genetics contribute to the development of illness to some extent.

Andrew Brookes / Getty Images

Are You A Good Candidate For Pd Generation

Anyone with a confirmed diagnosis of Parkinsons disease is eligible to participate in the PD GENEration study. During your initial appointment, the genetic counselor will review your medical and family history, as well as provide a personalized genetic risk assessment and review the genetics of PD. You dont need to be a patient at Ohio State to participate in genetic counseling and the PD GENEration study.

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When To See A Doctor About Parkinsons

There isnt one specific test to diagnose Parkinsons disease. Doctors will usually evaluate your symptoms and perform several tests to determine if you have the condition. If you notice the following early warning signs, then you should see a doctor.

The early warning signs of Parkinsons disease include:

Further Testing In Parkinsons

In other situations, where perhaps the diagnosis is not as clear, younger individuals are affected, or there are atypical symptoms such as tremor affecting both hands or perhaps no tremor at all, further testing may help. For example, imaging can play a role in differentiating between essential tremor and Parkinsons. It can also be important to confirm what is initially a clinical diagnosis of Parkinsons prior to an invasive treatment procedure such as surgical DBS

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Tests To Rule Out Other Conditions

Blood tests can help rule out other possible causes of the symptoms, such as abnormal thyroid hormone levels or liver damage.

An MRI or CT scan can check for signs of a stroke or brain tumor, which may cause similar symptoms.

Hydrocephalus due to atrophy can occur with some types of dementia and would be visible with one of these imaging tests. If the person has neurologic symptoms but a normal scan result, Parkinsons disease may be present.

The doctor a lumbar puncture to rule out inflammation or a brain infection.

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Current Genetic Testing Practice

The vast majority of participants ordered genetic testingon ten or fewer patients in the 12 months prior to completing the study.Furthermore, most participants reported that only ten or fewer of theirpatients reported undergoing direct-to-consumer testing . Inaddition, participants reported that few of their patients received genetictesting either in research projects that returned results to patients or in research projects that did not returnresults to patients. For either type of study design , more than 80% of clinicians reported ten patients or fewer who hadgenetic testing. In contrast to genetic testing, DNA banking under researchprotocols was more prevalent. Thirty percent of respondents reported banking DNAfor 11 or more patients in the past year . Consistent withresponses citing limited genetic testing and reporting, caring for patients withknown pathogenic variants was rare among survey respondents. Only 5.5% and 4.9%of responders reported providing care to more than ten known LRRK2 or GBApatients, respectively. In total, participants reported providing care for 490known LRRK2 carriers and 402 known GBA carriers. Providing care for patients withknown Parkin , PINK-1 , SNCA , and VPS35 pathogenic variants was anecdotal .

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What Are The Symptoms Of Parkinsons Disease

Symptoms of Parkinsons disease and the rate of decline vary widely from person to person. The most common symptoms include:

Other symptoms include:

• Speech/vocal changes: Speech may be quick, become slurred or be soft in tone. You may hesitate before speaking. The pitch of your voice may become unchanged .
• Handwriting changes: You handwriting may become smaller and more difficult to read.
• Depression and anxiety.

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Blood Test May Help Distinguish Parkinsons From Similar Diseases

Researchers have found that people with Parkinsons disease have lower levels of a certain protein in their blood than people with similar diseases. The results suggest that testing for the protein might help doctors to accurately differentiate between PD and similar diseases early on. The study appears in the February 8 online edition of Neurology.

Because there are no definitive diagnostic tests for Parkinsons, the diagnosis can be unclear especially early on in the disease. When diagnosis is uncertain, some people may be diagnosed with parkinsonism, which refers to a category of diseases, including Parkinsons, that cause slowness of movement, stiffness and rest tremor. Other diseases in the category include multiple system atrophy , progressive supranuclear palsy and corticobasal degeneration .

Earlier studies found that a spinal fluid test may help distinguish PD from these other diseases, but this test is difficult to do during a routine visit to the doctor.

Results

• Blood levels of NfL protein were generally lower in people with PD and in healthy individuals than in people with other Parkinsonian disorders.
• This result held both for those recently diagnosed and those who had been living with their disease for four to six years.
• The test for NfL could not distinguish between MSA, PSP and CBD.

What Does It Mean?

References

Hansson O, Janelidze S, Hall S, et al. . Blood-Based NfL: A Biomarker for Differential Diagnosis of Parkinsonian Disorder. Neurology 88: 1-8

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Bioinformatics And Clinical Interpretation

Bioinformatics

Clinical interpretation

We provide customers with the most comprehensive clinical report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists, and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals regardless of whether they have formal training in genetics.

Variant classification is the cornerstone of clinical interpretation and resulting patient management decisions. Our classifications follow the ACMG guideline 2015.

The final step in the analysis is orthogonal confirmation. Sequence and copy number variants classified as pathogenic, likely pathogenic, and variants of uncertain significance are confirmed using bi-directional Sanger sequencing or by orthogonal methods such as qPCR/ddPCR when they do not meet our stringent NGS quality metrics for a true positive call.

Other Causes Of Parkinsonism

Parkinsonism is the umbrella term used to describe the symptoms of tremors, muscle rigidity and slowness of movement.

Parkinsons disease is the most common type of parkinsonism, but there are also some rarer types where a specific cause can be identified.

These include parkinsonism caused by:

• medication where symptoms develop after taking certain medications, such as some types of antipsychotic medication, and usually improve once the medication is stopped
• other progressive brain conditions such as progressive supranuclear palsy, multiple systems atrophy and corticobasal degeneration
• cerebrovascular disease where a series of small strokes cause several parts of the brain to die

You can read more about parkinsonism on the Parkinsons UK website.

Page last reviewed: 30 April 2019 Next review due: 30 April 2022

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Protein Test Could Lead To Earlier And Better Diagnosis Of Parkinsons

Scientists at the Oxford Parkinsons Disease Centre have been able to use a highly-sensitive method called -synuclein real-time quaking-induced conversion to observe the clumping of alpha-synuclein in the cerebrospinal fluid taken from people with Parkinsons. The findings offer hope that a pioneering new clinical test could be developed to diagnose Parkinsons correctly in its early stages.

Alpha-synuclein is a protein known to form sticky clumps, known as Lewy bodies, in the brain cells of people with Parkinsons and some types of dementia. These clumps are associated with the death of dopamine producing nerve cells which causes the motor symptoms associated with Parkinsons, including freezing, tremors and slowness of movement along with the hidden symptoms such as anxiety and memory problems.

Funded by the charity Parkinsons UK, the study investigated whether the Syn-RT-QuIC method could be used as an early diagnostic test or measure of progression for Parkinsons. The study was carried out in people with Parkinsons taking part in the Discovery study of the OPDC, which is collecting a wealth of data from a specific group of people over time to better understand Parkinsons. Previous studies have shown potential for this test as a way to identify people with the conditions.¹

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Genetic Testing For Parkinsons Disease

Similar to other complex diseases, the reason a particular person develops Parkinsons disease is likely a combination of genetic makeup and environment. In most people, the genetic contribution to disease development may be due to a number of different genes and the interactions between them. For only a very small percentage of people with PD, about 10%, the disease can be attributed to a single abnormal gene. Figuring out the identity and contributions of all the different genes that play a role in disease development is a very hot topic in PD research today.

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New Diagnostic Standards For Parkinsons

Until recently, the gold-standard checklist for diagnosis came from the U.K.s Parkinsons Disease Society Brain Bank. It was a checklist that doctors followed to determine if the symptoms they saw fit the disease. But thats now considered outdated. Recently, new criteria from the International Parkinson and Movement Disorder Society have come into use. This list reflects the most current understanding of the condition. It allows doctors to reach a more accurate diagnosis so patients can begin treatment at earlier stages.

Physical And Neurological Examination

Your doctor will conduct a physical and neurological examination. This can involve observing your behavior, movements, and mental state and conducting tests or asking you to perform certain exercises.

These are some of the symptoms of Parkinsons your doctor can determine visually:

• Fewer spontaneous movements or hand gestures
• Reduced frequency of blinking
• Tremors in your hands while they are at rest, often only in one hand
• Hunched posture or forward lean while walking
• Stiff movements

These are some of the exercises your doctor may ask you to do to evaluate your movements, balance, and coordination:

• Opening and closing your fist
• Tapping your fingers, toes, and heels
• Holding your arms out in front of you
• Moving your finger from one point to another
• Rotating your wrists or ankles
• Standing from a chair

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Q Why Is Genetic Research So Important

The reason Im so passionate about genetics is that I believe that understanding the genetic variants involved in Parkinsons will lead us directly to new treatments.

Many of the variations weve identified are involved in key processes and activities inside brain cells and have helped us understand more about what goes wrong with them in Parkinsons. Crucially, we think many of these insights will hold true for everyone with Parkinsons, not just those with these rare genetic changes, and this knowledge is already leading to the development of treatments that are showing significant promise.

Another way in which I believe that genetics will improve life for people with Parkinsons in the future is by helping us to provide much more personalised treatments to individuals. Parkinsons is a very variable condition. People develop it at different ages, experience different symptoms, and respond differently to treatments. I think genetics may help us understand this better, and hopefully one day we will be able to look at a persons genetics to help us choose the right treatments for that individual.

Racial Disparities Under The Microscope

When understanding the difference in PD incidence across racial and ethnic groups, Mata says environmental factors should be taken into consideration.

Non-genetic factors contribute to the development of the disease, and therefore these could play a role in the possible differences between populations, Mata says. For example, many Latinxs in the U.S. work in farming, where massive amounts of pesticides are used, and exposure to pesticides is an important environmental factor in the development of Parkinsons disease.

Mata stresses the importance of genetic testing for developing future treatment and understanding some of these differences.

We have to keep in mind that using genetic information to determine, for example, the best treatment, is a reality in many diseases and will soon be for some neurological disorders, Mata says. Therefore, if we dont include all populations in our studies, we will be accentuating already-existing health disparities.

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Testing For Parkinsons Disease

There is no lab or imaging test that is recommended or definitive for Parkinsons disease. However, in 2011, the U.S. Food and Drug Administration approved an imaging scan called the DaTscan. This technique allows doctors to see detailed pictures of the brains dopamine system.

A DaTscan involves an injection of a small amount of a radioactive drug and a machine called a single-photon emission computed tomography scanner, similar to an MRI.

The drug binds to dopamine transmitters in the brain, showing where in the brain dopaminergic neurons are.

The results of a DaTscan cant show that you have Parkinsons, but they can help your doctor confirm a diagnosis or rule out a Parkinsons mimic.