How To Test For Dementia Gene

What Role Do Our Genes Play In Dementia

As dementia is so common, many of us will have a relative living with the condition but this does not mean we will develop it too.

Dementia is caused by diseases that affect the brain, such as Alzheimers disease. The likelihood of developing dementia will usually depend on a complex mix of factors like our age, medical history and lifestyle, as well as our genes. Most cases of dementia are not directly caused by genes we inherit from our parents.

Genetic Testing For Single

Genetic testing for single-gene causes of dementia is available through the NHS.

There are two different types of genetic testing diagnostic testing and predictive testing. These are used for different purposes.

People affected by dementia can also use genetic testing for family planning.

Diagnostic testing for dementia Diagnostic testing for dementia.

Dementia: Full Gene Sequencing Panel

• GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix ‘GTR’ followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000596935.1
• Test version history
• 596935.1, last updated: 2021-12-21

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for ADan amyloidosis

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Study Identifies New Dementia Risk Genes Through Novel Testing Approach

A new UCLA-led study has identified multiple new risk genes for Alzheimers disease and a rare, related brain disorder called progressive supranuclear palsy by using a combination of new testing methods allowing for mass screening of genetic variants in a single experiment.

The study, published today in the journal Science, also presents a revised, new model showing how common genetic variants, while individually having a very small impact on disease, collectively may raise the risk of disease by disrupting specific transcriptional programs across the genome.

Typically, researchers have relied on genome-wide association studies in which they survey the genomes of a large group of people to identify genetic variants that increase risk for the disease. This is done by testing for markers along the chromosome, or loci, associated with a disease. Each locus on average has dozens and sometimes hundreds or thousands of genetic markers in common that are co-inherited and therefore associated with the disease, making it difficult to identify which are actually the functional variants that cause disease.

Identifying the causal variants and the genes they impact is a major challenge in modern genetics and biomedicine. This study provides an efficient roadmap for tackling this problem.

Were entering in a new stage of therapies its beginning to be plausible to think about targeting networks, Geschwind said.

People Affected By Dementia Are Often Concerned About Whether The Condition Can Be Passed Along In Families

Here we discuss the role of heredity in Alzheimers disease and other forms of dementia.

Dementia is the term used to describe the symptoms of a large group of illnesses which cause a progressive decline in a persons functioning. It is a broad term to describe a loss of memory, intellect, rationality, social skills and what would be considered normal emotional reactions. Alzheimers disease is the most common form of dementia, accounting for 50% to 70% of all cases of dementia. It occurs relatively frequently in older people, regardless of family history. For females aged 65 to 69 years dementia affects 1 person in 80 compared to 1 person in 60 for males. For both males and females aged 85 and over the rate is approximately 1 person in 4.

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Alzheimers Blood Tests Available Now

As of writing, there are two blood tests for Alzheimers available in the US: Preclivity AD Test and Quest AD- Detect. While neither have FDA approval, they are lab certified for reliability and are or will be seeking FDA approval. The main drawback through these non-invasive blood tests is that most insurance companies will not cover the cost of them because they are not FDA approved. So, this becomes an out-of-pocket expense. Below is a table that outlines both tests in terms of how much they cost, what they test for and how to get them done.

Future Of Alzheimers Blood Tests

When blood tests become mainstream, they will significantly impact the way doctors diagnose and treat the disease. Medicine and technology have progressed so that it is estimated in the near future to be an easily accessible option.

Beyond the Preclivity AD, Quest AD-Detect, AlzoSure and Simoa, there are multiple other types of blood tests in development. Some are looking at protective fats in the blood. Research shows that an increase in fatty amide levels indicates more beta amyloid in the brain. Beta amyloid plaques have been found in the brains of people with Alzheimers. Healthy brains eliminate beta-amyloids before they turn to plaque.

Other blood tests will measure proteins such as tau proteins and the neurofilament light chain protein. Researchers have found that neuron death, characteristic in people with Alzheimers, may be detected by the corresponding increase of these proteins in the blood.

It is also possible that the probable link between insulin resistance, diabetes and Alzheimers means blood tests could show the disease in someone well before symptoms occur. Another protein called IRS-1 is commonly associated with diabetes but has also been linked to Alzheimers. Studies have shown that someone with Alzheimers has more IRS-1 than even someone with diabetes.

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What Are The Benefits Of Predictive Testing

Having the test can be helpful for the following reasons:

• It can remove the anxiety of not knowing especially as the person approaches the age at which any symptoms of dementia are likely to start.
• It can give the person the option of entering into a clinical trial.
• It can help with family planning.

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 corner stone 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.

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Information About Genetic Testing

Having a test to look for a faulty gene that causes dementia is only appropriate for a very small number of people. This is because inherited dementia is rare.

If you are worried that you have a strong history family of young onset Alzheimers disease or frontotemporal dementia, you can speak to your doctor about this.

Not all gene mutations that cause dementia have been identified, meaning that some families may have many affected members, but no mutation can be found. Therefore, a negative test result cannot always rule out a genetic cause of a disease.

If a test is appropriate, your doctor should be able to refer you to a genetic counsellor or specialist. This could be a cognitive neurologist or memory clinic psychiatrist. They will discuss with you the pros and cons of taking a test and what will be involved. They will also tell you where the results will be kept, who they will be shared with, and what the next steps would be. For people found to have a genetic mutation that causes dementia, these discussions will also cover the options available if you are considering starting a family.

To find out more about genetic testing and what support is available you can visit www.raredementiasupport.org or call 020 3325 0828. Leave a message and you will be referred to the most appropriate team member.

Advancements In Predictive Diagnostics

Testing for brain health is becoming more important to patients every day, and while there is a blood test for Alzheimers genes, there are still unknown factors that prevent it from definitively diagnosing Alzheimers or other forms of dementia. However, technologies for assessing and diagnosing neurological diseases are rapidly growing and improving.

Altoida is developing a precision neurology platform to measure and analyze cognitive and functional aspects of brain health. Our unique method for collecting and analyzing nearly 800 active digital biomarkers enables highly specific, accurate, and generalizable data for both cross-sectional and longitudinal analysis of neurocognitive function. This method will serve as the foundation for Altoidas work towards predicting conversion to Alzheimers disease years before symptomatic onset.

To learn more about Atloidas digital platform and how to address the questionis there a blood test for Alzheimers genescontact us today.

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What Is The Purpose Of Pgd For Families Affected By Dementia

Not every attempt at PGD works. However, when it is successful, PGD allows people affected by a familial dementia to have a child who is almost certain not to have the genetic change that the affected parent has. This means that the child will not develop the type of dementia caused by that gene change.

Whos A Good Candidate

ApoE4 genotyping is not regularly used by most neurologists,Dr. Sabbagh says, and advisory groups recommend that people who do not havesymptoms not get tested.

But he does believe that the test can be used safely and without causing harm or distress in some people.

To me, people who are appropriate candidates are people with mild cognitive impairment, Dr. Sabbagh says. These are likely adults between the ages of about 50 and 75 who demonstrate early symptoms of Alzheimers disease and have already gone through a family history and neuropsychological testing with a neurologist.

I do order it to answer the question why not just what, he explains. Some people want to know why they got Alzheimers disease, so this can help explain that they inherited it and were born with the risk.

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What Is Genetic Counselling

Genetic counselling is not the same as psychological counselling. Your counsellor will be a health care professional who is an expert in genetics. He will explain more about what the test involves, give you an idea of the kind of result it might show and what that result could mean to you or your family. But he will not make a decision or try to influence you one way or another.

You are entitled to genetic counselling before having genetic test.

Did you know? Results from genetic testing for dementia cannot currently be used against you by insurance companies and shouldnt therefore affect your ability to plan ahead financially. A temporary agreement to stop insurance companies using the results of genetic tests was put in place in 2001 in order to protect people from discrimination. The agreement will last until November 2017 but what happens then, is unclear.

Alzheimers Blood Tests Under Consideration For Fda Approval

Two different blood tests have been granted FDA breakthrough device status recently but are still not available to the general public. That means that they are fast tracked in their approval process by being able to conduct clinical trials faster and share their information with the FDA quicker.

The first is Diadems AlzoSure Predict. It was granted FDA breakthrough device status in early 2022. This blood test is different because it is a preventative diagnostic. It can predict if a patient with little to no symptoms will develop Alzheimers disease in the next 6 years. This is done by testing bio markers. A protein called p53 is checked along with how it reacts to an antibody and binds to it. High levels of p53 have been shown through lots of studies to be a sign of the disease before the appearance of its symptoms. To date, Phase 1 was completed with 482 participants and showed a 98% success rate in correctly predicting Alzheimers disease. This was done by retesting patients blood after 36, 72 and 90 months. It is estimated that a clinical trial for Phase 2 will begin later in 2022 testing 1,000 patients. In addition, AlzoSure Predict has also been granted special approval in Europe that enables it to be sold as further studies take place.

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I Have Just Been Diagnosed With Dementia And Ive Heard There May Be Genetic Tests My Children Can Have To See Whether They Are Going To Get Dementia

• Genetic testing is not a routine part of the assessment of someone with dementia, although this may change in the decades to come as our knowledge of genes and their association with dementia increases.
• Genetic testing for dementia is not recommended and will not be helpful unless there is a strong family history of younger onset dementia .
• There are several heritable genetic mutations that predispose or determine the development of dementia. However, these genetic mutations are related to rare and aggressive forms of younger onset dementia, and account for less than 2% of all cases of dementia.
• For those who do have a family history of younger onset dementia, there are tests that can determine whether a person has these mutations. These tests are available through genetic counselling and testing services.
• Those choosing to undergo testing for these genes should do so in close consultation with their family and a genetic counsellor, and they need to consider that a positive test will indicate the future onset of what is currently a terminal and incurable disease.

Information about genetics of dementia and genetic testing can be found on a Help Sheet from Dementia Australia, Genetics of Dementia

Alzheimers / Dementia Testing Alternatives

Despite the lack of FDA approved blood tests, families who suspect their loved one may have Alzheimers have a long path to a diagnosis. To begin the process, there are online tests for Alzheimers that can be downloaded, printed, completed and taken to your doctor, and even some interactive tests that might provide immediate results. However, these online tests do not actually test for Alzheimers or dementia. Instead, they offer families answers to these questions: Are my concerns about my loved one justified?Is this just normal aging or is there something more going on? Officially, the tests are looking for Mild Cognitive Impairment . These tests are not definitive, but they can help a family figure out what their next step should be.

If a doctor suspects a patient may have Alzheimers, there are more definitive approaches. Brain scans and tests on extracted spinal fluid when coupled with multiple physicians consultations can make a diagnosis of Alzheimers with upwards of 90 percent accuracy. Families should expect their loved one to be evaluated by a neurologist, a psychiatrist, and very likely a psychologist as well. Since Alzheimers is so common among the elderly, a diagnosis is less about finding a condition which fits and more about eliminating other possibilities.

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Preparing For A Doctor’s Visit