What Should You Know About At
Genetic tests are not a substitute for a Parkinson’s diagnosis. Most at-home genetic tests do not provide genetic counseling services to help interpret the results. Always consult with a genetic counselor and your doctor before and after taking a genetic test. Most at-home genetic tests check for a limited number of gene mutations associated with Parkinson’s. This can be misleading since these tests may not be comprehensive.
Since scientists are still discovering more PD-associated genes, it is important to consult your doctor about comprehensive genetic testing options, like the PD GENEration study, which provides a free comprehensive genetic test identifying all possible variants in the seven most common PD genes.
Even if you or a loved one test positive for a Parkinson’s gene, it does not mean you will develop the disease. Having a genetic mutation only means that you may be at increased risk to develop PD. Environmental factors and lifestyle choices will help determine whether someone will get Parkinson’s.
Can I Be Tested
Tests are generally arranged through a healthcare professional who can then interpret the results and give advice on how the information can be used.
Genetic testing is now also available from a number of companies who deal directly with people being tested. This can have several implications:
- Your doctor is not automatically informed of results, allowing you to keep findings to yourself if you wish.
- Results will not automatically be passed to your insurance company, although you should check your policy as you may be required to reveal all genetic test information. Failure to do so could invalidate your cover.
- You may not get the opportunity to discuss your test results and their implications with an experienced healthcare professional.
Important! Thoroughly check the credentials of any company offering genetic testing, as not all provide a high standard of service.
Content last reviewed: February 2018
Dna Health Tests Can Save You Hundreds
With a DNA test for health, you get more than just an in-depth look at your genetic health profile compared to a general ancestry test. Testing to see if you are a carrier for any potential disease or condition, or getting a full-range allergy test at a doctors office can cost you upwards of $1,000 or more.
A DNA health test can give you an inside look at your genetics from the comfort of your own home, for less than a third of the price you would pay to have tests done at the doctors office.
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Australian Parkinson’s Genetic Study
APGS aims to recruit thousands of participants with Parkinsons disease to help scientists crack the code of Parkinsons disease. Better understanding the genetic basis of Parkinsons is essential to accelerate the discovery of new drug therapies to prevent, slow, stop and cure Parkinsons Disease.
Participation is easy and can be done from the comfort of your home. It involves a ~25 minutes online questionnaire and providing a saliva sample via traditional post.
Why Genetic Testing For Parkinsons Disease Is Complex:
- There are many genes that are associated with the development of PD. This list continues to grow as more genes are discovered. Testing of only some of these genes is available in commercial labs.
- The majority of people with PD, even those with a family history of PD, do not harbor one of these identified abnormal genes. The genetic contribution to PD in these people is yet to be discovered.
- For a particular gene there may be a number of different mutations associated with disease, some of which are more common than others. Commercial testing may identify only the most common of the mutations, and therefore not capture everyone who carries a disease-causing mutation.
- Conversely, only particular mutations in a gene may be associated with disease. Commercial testing may identify changes in a gene that may not have clinical consequences. This can be confusing for patients who even after genetic testing may not know whether they harbor a disease-causing mutation.
- Different mutations can be enriched in different ethnic populations. For example, Ashkenazi Jews and North African Berbers have an increased risk of carrying Leucine rich repeat kinase 2 mutations. Glucocerebrosidase mutation frequency also varies greatly with ethnicity and is also increased among Ashkenazi Jews.
In addition to the above, it is important to realize that not all genes associated with PD contribute to disease in the same way:
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What Is The Lrrk2 Gene
The PARK8 area of the genome houses the LRRK2 gene, whichis the most common gene behind late-onset Parkinsonâs disease Jump to reference section: . There have been more than 100 genetic changes in LRRK2 found in families with Parkinsonâs disease, although only a handful have been shown to lead to the condition Jump to reference section: .
Changes in LRRK2 are associated with autosomal dominant inheritance, meaning that inheriting one genetic variant in LRRK2 can be sufficient to cause the disease. People who have inherited the variant have a higher risk of developing the condition than someone without the variant. The general population has a 1-2% risk of developing Parkinsonâs disease compared to the 30% chance for people who have a LRRK2 variant. This also means that 70% of people with the variant will not develop the disease . Many families with LRRK2 variants have Ashkenazi Jewish or North African Arab Berbers ancestry Jump to reference section: . However, itâs important to remember that while inheriting the variant increases the chance of developing Parkinsonâs disease, it is not a diagnosis of the condition.
Some Patients May Not Be Eligible To Take Part In The Free Genetic Testing Program
To speed up recruitment for a natural history program we are first focusing on patients who have a higher likelihood of testing positive for the mutated gene from the free genetic testing program. If a patient does not meet the criteria now, we will offer to contact them again should we open up the screening program to a wider population of Parkinsonâs patients.
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New Dna Diagnostics For Parkinsons Disease
14 December 2014
Research at UCL into the genetic causes ofParkinsons disease led to the development of a new genetic test, now availableto patients and their families.It also provided insights into patterns of Parkinsons disease in particularethnic groups and generated industry research leading to new drug candidates.
Approximately 200,000 people in the UK suffer from Parkinsons disease , a neurodegenerative condition affectingmultiple areas of the brain. The lifetime risk of developing PD in the UK is now4%, making it the second most common neurodegenerative disease in the country.
Huge improvements over the last 15 years in the understandingof PD have been driven largely by findings in genetics research. In 2004,researchers led by Professor Nicholas Wood were anintegral part of the group that first described mutations in the gene LRRK2. Thisrepresented a significant shift in understanding of a condition that had, formany years, had been taught to medical students as the prime example of anon-genetic disease. Furthermore, the teams discovery in 2005 of the so-calledcommon mutation in this gene showed for the first time that arelatively rare genetic variant could not only cause familial PD, but couldalso play a significant role in sporadic PD.
The test gives patients a precise diagnosis, andunderstanding of the risk of disease to relatives. Prenatal testing is also apossibility. To a lesser degree, an understanding of the mutation may help theprognosis of the disease.
Single Heterozygous Mutations In Ar
In one sporadic case, pathogenic R275W heterozygous mutation was identified in PRKN gene, and in three sporadic cases, possible damaging substitution were identified in autosomal recessively inherited genes, such as DNAJC6 , CP , and PLA2G6 . Notably, AOO is comparably high as it was seen in case where previously described genetic risk factors were solely presented .
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When Should Genetic Testing Be Done
Your physician may suggest it if your Parkinsons diagnosis comes at a young age , if multiple relatives in your family history have also been diagnosed with the same, or if you are at high risk for familial Parkinsons based on your ethnicity .
However, what is the benefit of having the testing done at the present time? The information may be important for family planning for some individuals although as I said even if the gene is passed on it does not necessarily equal development of the disease. The risk, though, is higher in dominant genetic mutations versus recessive ones, on average if a person has a first-degree relative with Parkinsons their risk of developing the disease is 4 to 9 percent more than the general population.
Keep in mind that currently for the person being tested, there is no change in the treatment of their Parkinsons disease based on genetic findings. In the future, however, when there are treatments to slow down the onset of the disease or to prevent it from developing at all, then the identification of those people at risk will be very important.
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Test Strength And Limitations
Test Strengths
It can detect the VPS35 c.1858G> A, p. variant, which is within the pseudogene region and is known to be challenging to detect by NGS technologies.
The strengths of this test include:
- CAP accredited laboratory
- CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory
- Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance
- Careful construction of clinically effective and scientifically justified gene panels
- Some of the panels include the whole mitochondrial genome
- Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level
- ~2,000 non-coding disease causing variants in our clinical grade NGS assay for panels
- Our rigorous variant classification scheme
- Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data
- Our comprehensive clinical statements
Test Limitations
This test does not detect the following:
- Complex inversions
- Gene conversions
- Balanced translocations
- Some of the panels include the whole mitochondrial genome but not all
- Repeat expansion disorders unless specifically mentioned
- Non-coding variants deeper than ±20 base pairs from exon-intron boundary unless otherwise indicated .
This test may not reliably detect the following:
For additional information, please refer to the Test performance section.
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How Is Parkinsons Disease Treated
Treatment can be tailored by knowing which genes are playing a role in the disease. People with a variant in LRRK2 tend to respond favorably to medication called Levodopa Jump to reference section: . But further research is required to understand what causes Parkinsonâs disease. Once we have this information, better drugs can be developed to cure the disorder. However, due to our limited knowledge of Parkinsonâs, drugs for the disease currently target specific symptoms, rather than the cause.
Who Should Consider A Genetic Test For Parkinsons
There are two groups of people who might consider getting genetic testing and we will discuss each group separately.
Genetic testing for PD is a common request and a number of commercial labs perform panels of genetic testing for PD. You may ask: How can I test myself for Parksinons? Whether youre considering getting a genetic test through your doctor, or performing one at home, its important to note that at-home test dont map the entire gene for mutations. Genetic testing through your doctor will test for GBA, PARK7, SNCA, LRRK2, parkin and PINK1.
Both groups are faced with two questions: Should I get genetic testing? And if so, what should I do with the results? Before we address these two questions, we need to learn more about the complexity of genetic testing in PD.
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Other Factors Influencing Parkinsons Disease Risk
Other factors besides genetics can influence someones chances of developing Parkinsons disease, including:
- Age: The risk of developing Parkinsons disease increases as a person ages.
- Sex: Males have a higher chance of developing Parkinsons disease than females.
- Family history: First-degree relatives of an individual with Parkinsons disease have a higher chance of developing Parkinsons disease.
- Exposure to certain chemicals increases the risk of developing Parkinsons disease.
Consult with a healthcare professional before making any major lifestyle changes.
Previously Reported Genetic Risk Variants Of Pd
In our cohort, 25 sporadic cases were identified with previously published genetic risk variants in PD genes . This rate is approximately two times higher in familiar cases , where 15 patients carried risk variants. In this Hungarian population, heterozygous GBA mutations, such as H294Q, E365K, T408M, N409S, and L483P variants, were identified in 10 patients and four controls . The detected H294Q, L483P, and N409S GBA variants were published as pathogenic in biallelic form in GD. The T408M variant based on ClinVar is considered as benign, the E365K as VUS in GD however, previous studies identified both of them as genetic risk variants for PD . Moreover, one patient carried two previously published genetic PD risk variants in GBA gene. Among the GBA carriers, some patients had distinctive clinical features, such as supranuclear vertical gaze palsy , nonmedication associated hallucinations , depression and anxiety , and early cognitive dysfunction in two patients .
Table 3 Previously described genetic risk factors associated with PD.
Among all the detected, previously published genetic risk variants, all of it are associated with an OR > 1 in our cohort however, we could only confirm two risk variants , to be significantly more frequent in cases, compared to controls.
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Rare Damaging Mutations In Pd
In the PRKN gene, exon 7 duplication were detected in four sporadic patients. In case of one sporadic patient, SNCA gene duplication was identified. All of the detected CNVs were classified as pathogenic based on ACMG classification guideline. A previously reported, LRRK2 L1795F pathogenic mutation were detected in a single case . In addition, novel damaging mutations were identified both in LRRK2 and EIF4G1 genes in the P123 and P2 patients, respectively. The L2170W mutation in DNAJC13 gene was classified as a variant with unknown significance, although Gustavsson et al. in 2015 suggested that this variant increase the genetic risk of PD . Neither of these variants were detected in our control group and the two LRRK2 mutations were not presented in gnomAD database. All the identified damaging SNVs were found in patients with familial aggregation. Clinical characteristics of the patients are reported in Table 2. Patients with PRKN exon 7 duplication, who are not involved in this Table, did not have atypical neurological symptoms. Two patients had equivalent, and two patients had akinetic-rigid type of PD. Mean age at onset in this group of patients was 42.25 ± 5.0 years. The P140 male patient has akinetic-rigid type of PD without any atypical symptoms .
Table 2 Patients with rare substitutions in AD-PD-associated genes.
What Are The Benefits Of Genetic Testing
ESCAPE is developing a new therapy for patients with Parkinsons disease caused by a mutation in theLRRK2 gene. It is hoped that this therapy may be able to stop or slow the progression of the disease. Since most people with Parkinsonâs disease have never been tested for LRRK2 mutations, ESCAPE is providing free genetic testing via mail which is an at-home saliva test. If a patient is found to have a mutation in theLRRK2 gene they will be invited to take part in certain clinical studies for patients with Parkinsons disease and this specific gene mutation.
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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
Pd Generation At Ohio State
The Ohio State University Wexner Medical Center is a participating location in the national PD GENEration study, sponsored by the Parkinsons Foundation, to offer free genetic testing and genetic counseling for people diagnosed with Parkinsons disease.
Participants will provide their genetic data, via a simple blood draw, along with medical and family history to be analyzed by researchers looking to understand what genetic change are involved in a diagnosis of Parkinsons disease. During this study you will meet with a genetic counselor to review your individual results and what the possible implications your results have for your Parkinsons disease.
To learn more about GENEration or sign-up, contact our PD Research team today at 614-688-6419 or .
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