Thursday, June 16, 2022
Thursday, June 16, 2022
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Can You Get Tested For Parkinson’s Gene

Access To Genetic Counseling

How much do you know about genetic testing?

Most respondents reported having access to services of agenetic counselor within their institution or in their movement disorderspractice. Only 8 had utilized genetic counseling via telephone ortelemedicine. Most reported that they would either involve a genetic counseloror recommend a genetic counseling referral prior to genetic testing forPD. The rest would either counsel by themselves or not offer genetictesting .

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:

Genetics Testing And Research

Although there may be no direct benefit to you at the present time, the results of genetic testing can help further Parkinsons research by allowing scientists to better understand the disease and consequently develop new treatments. For example, a mutation in the gene that codes for the protein alpha-synuclein leads to a specific type of familial Parkinsons disease. Although this mutation only accounts for a small percentage of cases, knowledge of this mutation has had broader effects. The study of this genetic mutation led to the discovery that alpha-synuclein clumps together to form Lewy bodies which have been consistently found in the brains of all individuals with Parkinsons disease not just those with the SNCA mutation. Thus, one gene mutation has led to a critical finding in the field of Parkinsons research.

Genetics testing is a very personal decision but a cautionary note: anytime that genetic testing is considered, particularly in a disease condition where there is no change in treatment based on genetic findings, it would be my recommendation to see a genetics counselor to discuss the impact this information will have on you the patient and your family.

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When Should A Person Seek Genetic Testing

Genetic testing is available for some genes related to Parkinsons disease, but testing may not provide useful information to individuals.

For one thing, a wide range of genes may play a role, and it is not possible to test them all. A person may also have a relevant feature but not go on to develop Parkinsons disease.

For example, only around 0.7% of people with symptoms of Parkinsons disease have changes in the LRRK2 gene, and around 0.3% have changes in the PRKN gene, according to a 2020 review.

Finding out in advance if a young person has the gene may help them prepare for the future if there is strong evidence of a family history of the condition. However, the results are unlikely to be conclusive and may cause unnecessary anxiety.

Anyone who is interested in genetic testing should discuss the pros and cons with a doctor and consider genetic counseling if they decide to go ahead.

The Parkinsons Foundation notes that testing is often hard to access. It can also be costly, and health insurance may not cover it. Genetic counseling can be an additional cost.

Understanding The Lrrk2 Mutation

Parkinson

People withLRRK2 Parkinsonâs disease

Most people withLRRK2 Parkinsonâs disease have one normal gene and one mutated gene. This means they have both normal LRRK2 and an overactive version. The overactive LRRK2 causes certain cells in the brain to degenerate, resulting in the development of Parkinsonâs disease.

ESCAPE Bioâs approach

ESCAPE is developing an investigational therapy that only blocks the overactive LRRK2. The therapy is intended to be taken by mouth in pill or capsule form.

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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:

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.

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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.

For Parkinsons Patients Genetic Testing May Open Possibilities

Should You Get Tested for the BRCA Gene Mutation? — The Doctors

    Physicians have had little incentive to order genetic tests for their Parkinsons disease patients, although evidence suggests that up to 15% of these cases may be genetic.

    Mutations in several different genes increase the risk of Parkinsons disease, says Roy N. Alcalay, MD, MS, the Alfred and Minnie Bressler Associate Professor of Neurology at Columbia University Vagelos College of Physicians and Surgeons and a neurologist at NewYork-Presbyterian/Columbia University Irving Medical Center. Until recently, we rarely offered genetic testing for people with Parkinsons because the benefit had been unclear.

    But recent studies have shown that genotype can help better estimate the rate of disease progression in Parkinsons. And as new drugs designed for people with specific Parkinsons genes have entered clinical trials , Alcalay realized the calculus has changed.

    From our own genetic studies, I realized many people were eligible to enroll in such trials, but they didnt know it because nobody told them about their genetic status, Alcalay says. I wanted to find a simple, ethical way to offer Parkinsons patients information about their genotype if they are interested.

    Alcalay, the principal investigator of PDGENEration, talked to the CUIMC Newsroom about how the program may help support the development of personalized therapies for Parkinsons patients.

    Why is now the right time to start genetic testing in Parkinsons disease?

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    Should I Get Tested For Genetic Markers For Parkinson’s

    You can find out if you have certain genetic markers for Parkinson’s disease with at-home genetic tests. However, Dr. Litvan is cautious about recommending genetic testing for everyone. Remember: Most people with the mutations linked to Parkinson’s never get the disease, so you may end up with a ton of unnecessary stress and worry if your results reveal one of these genetic factors.

    What Is Lrrk2 Parkinson’s Disease

    LRRK2 is a critical protein that regulates cellular function and is produced from theLRRK2 gene. G2019S LRRK2 Parkinsonâs disease is believed to be caused by a mutation in the LRRK2 gene leading to the production of overactive LRRK2. Most people with a diagnosis of Parkinson’s disease have not been tested for LRRK2 mutations, however it is estimated that between 3% -30% of patients have this underlying mutation. ESCAPE Bio is developing a G2019S LRRK2 targeted treatment.

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    What Is Essential Tremor And How Is It Different To A Parkinsons Tremor

    A tremor is a rhythmical, involuntary movement that affects a part of the body, such as the hand.

    Essential tremor is the most common type of tremor. Its most noticeable when your hands are doing something and it usually affects both the right and left sides of the body equally. Essential tremors often lessen when your body is resting.

    Unlike an essential tremor, a Parkinsons tremor is most obvious when the affected body part is resting and tends to be less noticeable with movement. It usually starts on one side of the body and may progress to the other side as Parkinsons develops.

    The time it takes to get a diagnosis can vary from person to person. Some people may receive a diagnosis of Parkinsons quite quickly, but for others it may be a long process. This can be due to a number of things, including your medical history, your age and what symptoms you have.

    Your specialist may wish to rule out other causes of your symptoms first and see how you respond to treatment. This may take some time, and, as already mentioned, there is currently no definitive test for Parkinsons.

    How you respond to treatment may help your specialist make a diagnosis. Keeping a diary or record of your symptoms will give the specialist more information to guide their decision.

    Because the symptoms of Parkinsons are sometimes similar to other forms of parkinsonism, people can sometimes be misdiagnosed.

    Costs Of Genetic Testing

    Can The Way You Type Detect Parkinsons Disease

    If your doctor orders a genetic test, it generally is covered by insurance or Medicare as long as the results could be clinically useful, meaning that a positive result would lead to preventive measures or treatment. Check with your insurer before testing to confirm whether it will be covered. If your insurance wont pay, the out-of-pocket cost varies from hundreds of dollars for a focused test to thousands for an exome or whole genome test . Warning: Testing for Parkinsons and Alzheimers risk often is not covered, because the results of these tests do not point to a specific treatment or improve the odds of survival.

    One downside of genetic testing: It could potentially make it more expensive or difficult to obtain life, disability or long-term-care insurance. Insurers sometimes ask applicants if theyhave had genetic testing done and/or whether they are aware of any reason why they might be at elevated risk for medical problems uncovered by genetic testing. Unlike life, disability or LTC insurers, however, health insurance companies and employers are legally barred by federal law from asking about genetic testing.

    Helpful: Genetic counselors can assist you in finding the right genetic test for your medical and family history and in interpreting the results. If your hospital or medical center does not have a genetic counselor on staff, check FindAGenetic Counselor.org. Your health insurance may cover the cost of working with a genetic counselor, but check first.

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    When Genetic Testing Can And Cant Save Your Life

    Gillian Hooker, PhD, ScM, LCGC, past president of the National Society of Genetic Counselors. She is an adjunct associate professor at Vanderbilt University Medical Center and vice president of clinical development at Concert Genetics, both in Nashville. ConcertGenetics.com

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    Until recently, genetic testing for medical purposes has brought to mind inherited changes in so-called BRCA genes, which increase risks for breast, ovarian and other cancers.

    Now: Genetic testing is being increasingly used to give advance warning of elevated risk for dozens of potential health problems. Unlike tests that help identify an existing medical condition, predictive genetic testing is done to determine whether a person carries one or more genetic mutations that make him/her more likely to develop a particular health problem than someone without the mutations.

    An early warning of potential problems allows the patient and doctor to identify preventive measures to reduce risk for the disease. Getting a positive test result, however, does not typically mean that the person will definitely develop cancer or another condition linked to a genetic mutation that shows up through testing. There are many factors that influence health and disease, including your environment, diet and health behaviors.

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    What To Know About Genetic Testing

    Genetic testing can help identify changes in our DNA that may be linked to Parkinsons. Learning your genetic status is a personal decision, but the results may help you take action in your health and advance science closer to cures.

    Some of the greatest strides in understanding Parkinsons disease and developing new therapies have come from the study of human genetics. Read more below on what to consider before genetic testing and where to access this type of testing.

    Navigating Clinical Trials

    The Michael J. Fox Foundation’s guide and related materials will help you learn the basics of clinical research and gain an understanding of the valuable contributions made by study volunteers. Learn about genetic research and testing in Chapter 3 of the guide.

    Ask the MD

    Rachel Dolhun, MD, is a board-certified movement disorder specialist and The Michael J. Fox Foundation’s Senior Vice President of Medical Communications. In this short video, she explains what to expect when you opt for genetic testing and genetic counseling in Parkinson’s.

    What Is Genetic Testing

    Should I be tested for BRCA mutations?

    Genes inside our cells carry the instructions for our physical attributessuch as hair and eye color, height, and the shape of our noses and kneesbut they also contribute to our risks for developing diseases.

    We all carry the same genes, but within those genes there are differences, which we call variants, Mata says. The variants make us the individuals we are. If we think about our genetic information as a book, the genes would be the chapters, and the variants are the words. Sometimes these words have consequences, causing or increasing our risk to develop certain diseases. With genetic testing we look at those genes and try to find variants that could be potentially disease-causing, he says.

    Mata explains that genetic variants are passed from generation to generation, so genetic testing, under the supervision of a genetic counselor, could be very helpful to determine a possible genetic cause of a disease.

    The impact for the patient with Parkinson’s disease could be huge, as several clinical trials are ongoing for individuals with certain genetic variants,” Mata says. “This means that new therapies are being created targeting the biological cause of the disease, therefore potentially being much more effective in slowing or stopping the progression of the disease in that specific group of patients.”

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    Benefits For Qualifying Patients

    • As part of the program, qualifying participants will receive free at-home DNA testing.

    • Patients will receive a free explanation of their genetic results from a qualified genetic counsellor if they test positive for the genetic mutation.

    • Have the chance to participate in research from home.

    • People who test positive for the genetic mutation and complete this program will automatically have the chance to be assessed for eligibility to take part in a planned future precision medicine treatment study.

    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.

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