Genetic Testing And Counseling Mostly Seen Favorably In Study
The online survey a 52-item multiple choice questionnaire was sent to 8,858 MDS members.
Overall, 568 members completed the survey, of whom 52% were movement specialists and 31% general neurologists. The remaining 16% had other specialties. The majority of the respondents were from Europe and America , followed by Asia/Oceania and Africa .
Across the different world regions, 54% of the respondents reported that genetic testing was available only at selected centers. Moreover, 32% of general neurologists had access to genetic testing, while 14% reported lack of available tests in their country.
The major barrier to testing was its cost, according to 57% of the respondents.
The results of this survey show that only half of the responders report that genetic tests are available in their regions. Cost is the most common barrier in most regions Chin-Hsien Lin, MD, professor at the National Taiwan University Hospital, who was not involved in the study, said in a press release.
In our region, because the national health insurance does not cover the fees for genetic tests, patients need to pay on their own. In this case, many patients who have a family history of Parkinsons disease, or movement disorders, or young-onset patients may not have the chance to receive the genetic tests to reach a molecular diagnosis, Lin added.
Additional barriers identified included patients fears of discrimination or difficulties in obtaining insurance, as well as lack of information.
What Is The Cost Of Genetic Testing And How Long Does It Take To Get The Results
The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result. For newborn screening, costs vary by state. Some states cover part of the total cost, but most charge a fee of $30 to $150 per infant.
From the date that a sample is taken, it may take a few days to weeks to receive the test results. Results for prenatal testing are usually available more quickly because time is an important consideration in making decisions about a pregnancy. The doctor or genetic counselor who orders a particular test can provide specific information about the cost and time frame associated with that test.
Genetic Testing Is Primarily For Research Not Care
Genetic testing as part of a research study is not necessarily intended to provide you with personal medical information and, in some studies, you may not learn your results. As of this writing, even if you discover that you do carry a genetic mutation, these results will not significantly alter your personal medical care. Some studies are testing new therapies in mutation carriers. Your genetic status may allow you to participate in research studies, partnering with scientists to add to our existing knowledge about brain disease and help evaluate new treatments.
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Autosomal Dominant Genetic Features
People have two copies of each gene. In autosomal dominant inheritance, a child can inherit either a healthy gene or one that is not working correctly. They will have a of inheriting a faulty gene.
Autosomal dominant genes that have associated with Parkinsons disease include:
- SNCA, or PARK1
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.
When Is Genetic Testing For Dementia Appropriate
In some cases, it may seem likely that a persons dementia is caused by a single-gene change for example, if the person has a very strong family history of dementia. In these cases, it may be appropriate to offer genetic testing to the person and to their family.
However in most families dementia will not be caused by a single-gene change. In these cases, genetic testing will not be appropriate. This is because testing for risk variants does not provide any certainty about the persons chances of developing dementia.
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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 .
How Much Does Brca Genetic Testing Cost
It may also be possible to receive genetic counseling and undergo testing as part of a research study. At-home genetic testing that includes BRCA1 and BRCA2 costs around $200 to $300. However, these tests typically only detect three BRCA mutations out of the more than 1000 which have been identified.
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How Would You Describe The Current State Of Testing In Hd Regarding Access And Demand
Although I don’t have all the data on this, my impression is that an increasing number of high-impact clinical trials is causing a slight increase in demand for predictive HD testing, and thus far COEs have mostly been able to meet that demand. What is hard to capture is the volume of patients currently bypassing recommended testing protocols by testing with their primary care providers, but I think the threat of this always in the background is a further incentive within the HD community to assure that we are decreasing barriers to access for this testing such as decreasing cost if and where possible.
The Source Of Obstacles
Next, we asked participants to rank the extent to which differentpotential obstacles keep them from ordering genetic tests for patients with PD. The most common responsewas lack of insurance coverage/cost, followed by the perception that genetictest results would not affect care.
Responses to the question To whatextent do any of the following keep you from orderinggenetic tests for patients with Parkinson disease inyour clinic? Participants graded each option ona scale from 0 to 100. Orange bars represent the mean grade foreach response, and horizontal black lines represent the standarddeviation. All respondents answered each questionseparately.
We then asked participants to evaluate the potential impact of thenew Parkinson’s Foundation initiative PD GENE . The responseof the participants to the initiative is captured in Fig. . The vast majority of respondents reported thatthey would like to provide genetic testing and genetic counseling for theirpatients. Lastly, we asked participants if they have ethical concerns about suchan initiative. While the majority did not have ethical concerns, those who didwere invited to elaborate in free text. Concerns included the impact of theresults on relatives, and the influence of the pharmaceutical industry. All freetext responses are available in Supplementary File .
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Genetic Testing And Parkinson’s
Research suggests that a combination of genetic and environmental factors leads to the development of Parkinsons in most cases. Research continues to determine how these factors interact, and the extent to which each is involved. Current research suggests that only about five percent of cases of Parkinsons can be definitely linked to a genetic cause.
Although there are a few families in which more than one person develops Parkinsons, it is rare for the condition to be passed from one generation to the next. Most research suggests that the condition develops as a result of genetic susceptibility and an external trigger, such as environmental chemicals. Exactly how this happens is not yet clear.
Researchers have so far identified a number of genes that seem to be linked to Parkinsons, including the parkin, PINK1, PARK7, SNCA and LRRK2 genes. It is important to note, however, that a mutation of one of these genes does not necessarily mean that the condition will develop.
Genetic testing for several Parkinsons genes is now quite widely available. From a medical point of view, this can help to confirm a diagnosis of Parkinsons. However, the decision to undergo genetic testing needs to be made carefully, as it may have implications for other family members. Knowing there is an increased risk of developing Parkinsons may cause unnecessary worry in people who may never go on to develop the condition.
Genetic Unicorns Defy Their Own Dna And Could Hint At New Treatments
The idea of telling consumers by mail that they have an elevated risk of Alzheimers based on a genetic variant in a gene known as APOE concerned some physicians and researchers. Rudolph Tanzi, a neurology professor at Harvard Medical School, said consumers will for sure need genetic counseling along with the test results.
The relationship between Alzheimers disease and the APOE variant is complex and not fully understood, said Dr. Mary Ganguli, a professor of geriatric psychiatry at the University of Pittsburgh. For one thing, she said, the association is weaker in African-Americans than in whites. For another, the risk fades with age if you make it beyond age 80 without developing Alzheimers, youre no longer at elevated risk, even if you have the variant, she said.
How is someone who orders the test at home and gets this result going to know all this? Ganguli asked. Do most of their doctors know?
23andMe, like several other companies, has been providing customers with reports on their genetic ancestry and some general health information, like whether theyre lactose intolerant or prone to weight gain. The FDAs move on Thursday greatly widens the market for the company.
Just as significant: The FDA indicated that it will ease the way for 23andMe to sell additional disease risk tests, without extensive regulatory review. Other companies that use a similar process for genetic analysis may also be able to expedite their path to market.
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Is It Worth Getting A Genetic Test For Dementia Risk Variants
Genetic tests for dementia risk variants are not recommended. This is because knowing whether someone has genetic risk variants does not mean knowing for certain whether they will develop dementia. A person who has risk variants may have a higher risk of developing dementia, but even someone at a higher risk may never develop the condition.
How Genetic Testing Can Help Advance Clinical Trials For Parkinsons Disease
Produced by
PD GENEration aims to uncover new genetic links to Parkinson’s disease to help advance clinical trials.
At least 10 million people worldwide have Parkinsons disease. But patients often go through long, challenging steps to arrive at a diagnosis and start treatments. Although genetic testing can improve the diagnostic process and lead to more appropriate treatments, tests are expensive, often hard to access, and are not routinely performed. In 2019, the Parkinsons Foundation launched PD GENEration: Mapping the Future of Parkinsons Disease, a comprehensive study that offers genetic testing and counselling at no cost to individuals diagnosed with Parkinsons disease, to help improve their treatment, and to find new participants for clinical trials testing targeted therapies. James Beck, Chief Scientific Officer of the Parkinsons Foundation, discusses the challenges surrounding Parkinsons disease diagnosis.
James Beck, Chief Scientific Officer of the Parkinsons Foundation
What role does genetics play in the diagnosis and treatment of Parkinsons?
How does PD GENEration address the current limitations of genetic testing?
Why is genetic counselling important to offer alongside the testing?
What impact do you hope this study will have?
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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:
Is It A Cause Of Concern That Many At
Not necessarilywe mostly feel that the driving force for at-risk patients to forego testing is the lack of disease-modifying therapies in HDwhich contributes to the perception of lack of “something that can be done” for HD. We also have deep respect for the personal nature of the decision to test or not to test. However, if someone goes through the emotional decision process and does opt for predictive testing, I feel strongly that we then need to support the patient in any way we can by reducing/eliminating barriers to access to predictive testing.
Transcript edited for clarity. For more coverage of MDS 2021, .
REFERENCEMassey M, Orem T, Sung V. Cost of Predictive Genetic Testing for Huntingtons Disease at Centers of Excellence in the US. Presented at: MDS Congress 2021 September 17-22 Virtual. Poster 240.
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Is Genetic Testing Usually Covered By Insurance
In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a persons doctor. Health insurance providers have different policies about which tests are covered, however. A person may wish to contact their insurance company before testing to ask about coverage.
What Are The Chances Of Getting Cancer If It Runs In Your Family
Reality: Most people diagnosed with cancer dont have a family history of the disease. Only about 5% to 10% of all cases of cancer are inherited. Myth: If cancer runs in my family, I will get it, too. Reality: Sometimes, people in the same family get cancer because they share behaviors that raise their risk.
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Access To Genetic Counseling
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 .
If Ive Already Been Diagnosed With Parkinsons Disease Why Do I Need Genetic Counseling
Knowing your genetic variant may help explain a part of why you developed PD or if you may be at higher risk for complications associated with PD, such as cognitive changes.
It may provide beneficial information for your family.
It could also be used to determine potential eligibility for participation in clinical trials.
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The Decision To Seek Genetic Testing Is A Personal One
Learning you carry a gene mutation that raises disease risk can be concerning for you and your family. The decision to seek genetic testing or to participate in genetic research deserves extra attention. A genetic counselor is trained to talk with you and help you gain a fuller understanding of what your results might mean for you and your family.
Athletes Are Keeping Their Distance From A Genetic Test For Concussion Risks
Its a significant reversal of fortunes for the Bay Area startup: In 2013, the FDA banned the company from sharing data about disease risk with its customers. Regulators worried that consumers would misinterpret the results from the inexpensive at-home saliva test kit, and allowed 23andMe to only provide ancestry information.
After extensive talks with the FDA, 23andMe was allowed to start sharing some health information with its users in 2015 offering users carrier screening, for instance, that indicated whether they could pass heritable diseases like cystic fibrosis and Tay-Sachs disease to their children.
The decision to allow 23andMe to disclose disease risk information to consumers has been nearly a year in the making: The company first submitted its request for approval in June 2016, according to Kathy Hibbs, 23andMes chief regulatory officer.
This is an important moment for people who want to know their genetic health risks and be more proactive about their health, Anne Wojcicki, 23andMe CEO and cofounder, said in a statement. She also noted that its a significant step forward for her company.
The Personalized Medicine Coalition, which counts biotech and diagnostic companies and patient groups among its members, also welcomed the FDAs move. The disease risk tests may help inform patients behaviors and medical decisions, said Edward Abrahams, the groups president.
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