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.
If Youre Worried About Possible Dementia
Lets say youre like the man I spoke to recently, and youre worried that an older parent might have dementia. Youre planning to have a doctor assess your parent. Heres how you can help the process along:
- Obtain copies of your parents medical information, so you can bring them to the dementia evaluation visit. The most useful information to bring is laboratory results and any imaging of the brain, such as CAT scans or MRIs. See this post for a longer list of medical information that is very helpful to bring to a new doctor.
What Causes Dementia To Progress So Quickly
Dementia symptoms are typically mild at first and progress over time to moderate and then severe, over several years. The speed as which dementia progresses varies between individuals, but some factors can cause dementia to progress more quickly. These include the persons age, the type of dementia, and other long term health problems. Dementia tends to progress more slowly in people over 65 compared to younger people below 65.
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When Testing Is Worthwhile
While screening for dementia when you don’t have any symptoms doesn’t make sense, Dr. Nelson states, “Any memory or cognitive changes that concern youor the people close to youwarrant a visit to a geriatrician, neurologist, or neuropsychologist.”
Normal, age-related memory lapseslike forgetting the name of your high school English teacher, or having trouble recollecting where you had dinner on a trip to Parisshouldn’t be cause for concern.
But call your doctor if you start to forget information you once knew well, or memory loss is interfering with your daily function. “When you’re beginning to forget the name of your high school or your grandchild, or whether a close family member is dead or alive, or you have difficulty with tasks that were once familiar, like becoming disoriented in your own home or neighborhood, those types of episodes are concerning,” Dr. Nelson says.
When you see a doctor, you’ll go through a series of tests, including a neurological exam to determine how well your brain and nervous system are functioning. The doctor will check your reflexes, eye movements, speech, and coordination.
He or she will also ask you a variety of questions that will assess your visuospatial abilities .
Your evaluation may involve tests for other conditions that can cause memory loss. These include
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poor sleep
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underactive thyroid gland
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vitamin deficiencies, including B1 and B12.
What Is The Clock Test For Dementia
The clock test is a non-verbal screening tool that may be used as part of the assessment for dementia, Alzheimers, and other neurological problems. The clock test screens for cognitive impairment. The individual being screened is asked to draw a clock with the hour and minute hands pointing to a specific time. Research has shown that six potential errors in the clock testthe wrong time, no hands, missing numbers, number substitutions, repetition, and refusalcould be indicative of dementia.
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How Much Does It Cost To Get Genetic Testing For Alzheimers
Depending on where you live, it may be possible for you to access government-funded genetic testing for Alzheimers. For example, the National Health Service in the United Kingdom offers genetic testing for specific variants that can increase your likelihood of developing Alzheimers.
However, these tests are usually only offered under very specific circumstances such as a significant family history of the disease and youll be required to visit a genetic counselor to discuss your results. Additionally, these types of tests wont reveal whether youre at risk for other genetic or multifactorial diseases.
Another alternative is to get a direct-to-consumer genetic test. Many of the most common genetic testing services only offered limited results, however, and its important to do your own research before you choose a provider. Many popular testing companies only offer simple ancestry and health results that dont reveal your risk of Alzheimers disease.
At Sequencing.com, we offer our Ultimate DNA Test starting at $69, and our Ultimate Genome Sequencing for $399. Both of these tests analyze your genome and provide a treasure trove of genetic information that youll be able to use to take control of your health and lifestyle.
While the Ultimate DNA Test is great for wellness and genealogy, Ultimate Genome Sequencing, which obtains 100% of your genome, is best for health and wellness.
Key Features Of Dementia
A person having dementia means that all five of the following statements are true:
- A person is having difficulty with one or more types of mental function. Although its common for memory to be affected, other parts of thinking function can be impaired. The 2013 DSM-5 manual lists these six types of cognitive function to consider: learning and memory, language, executive function, complex attention, perceptual-motor function, social cognition.
- The difficulties are a decline from the persons prior level of ability. These cant be lifelong problems with reading or math or even social graces. These problems should represent a change, compared to the persons usual abilities as an adult.
- The problems are bad enough to impair daily life function. Its not enough for a person to have an abnormal result on an office-based cognitive test. The problems also have to be substantial enough to affect how the person manages usual life, such as work and family responsibilities.
- The problems are not due to a reversible condition, such as delirium, or another reversible illness. Common conditions that can cause or worsen dementia-like symptoms include hypothyroidism, depression, and medication side-effects.
- The problems arent better accounted for by another mental disorder, such as depression or schizophrenia.
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Getting A Diagnosis Of Dementia
The content below is reflective of our leaflet.
If you are concerned about your own memory, or you are worried about changes you have noticed with memory, communication, personality or behaviour of someone close to you, it is important to consult a GP as soon as possible, so that an accurate diagnosis can be made.
Going to a GP for a check-up can identify potentially treatable conditions that initially look like dementia but are not. For example: depression, an underactive thyroid, vitamin B12 deficiency, delirium caused by a medical condition like an infection, and the side effects of some medicines can all affect a persons alertness, memory, or brain function.
Why is it important to recognise and diagnose dementia in the early stages?
We know that seeking a diagnosis can be scary or overwhelming, and some people feel that theyd rather delay finding out. There are four main reasons you should take steps to get a diagnosis as soon as you can:
What are the possible signs and symptoms that may indicate a person could have dementia?
A change in:
- ability to perform everyday tasks
- personality, mood, behaviour or social functioning
All of these signs and symptoms may be due to potentially treatable causes, so it should never be assumed that one or more of these signs and symptoms is definitely an indication of dementia.
How is a diagnosis made?
The GP should also briefly test the persons memory and cognitive abilities, asking the person to:
Getting a Diagnosis
Apoe: A Marker For Alzheimers Risk
Experts believe there is a strong genetic component to Alzheimers disease. But for late-onset Alzheimers disease, the most common form of dementia that appears after age 65, it doesnt boil down to just genetics. Rather, there could be multiple genes as well as other lifestyle and environmental factors that play into whether a person develops the disease.
As of now, the gene that seems to be the strongest predictorof Alzheimers risk is called ApoE. There are three varieties of this gene:
- ApoE2
- ApoE3
- ApoE4
Each person has two copies of ApoE genes. Studies have shown that a person who carries the ApoE4 variety is at an increased risk for developing Alzheimers. Having one copy of ApoE4 can triple a persons risk, Dr. Sabbagh says, and having two copies raises the risk even further.
But ApoE4 is not a deciding factor for Alzheimers. Its a statistical risk, but its not an absolute risk, Dr. Sabbagh reiterates.
That means that having ApoE4 doesnt mean youre guaranteed to develop Alzheimers, and not having it doesnt necessarily put you in the clear.
That uncertainty is part of why its important to carefullyconsider whether knowing your ApoE4 status would benefit you.
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Is Dementia A Mental Illness
Dementia is a mental health disorder as defined by the Diagnostic and Statistical Manual of Mental Disorders. In 2013, the American Psychiatric Association changed the name to Major Neurocognitive Disorder, which is a mouthful. The change was made in order to provide a clearer description of the problem. Whats most important to know is that dementias can involve changes to emotions, behaviors, perceptions, and movements in addition to memory and thinking.
Promoting Early Diagnosis Of Dementia
The early symptoms of dementia can include memory problems, difficulties in word finding and thinking processes, changes in personality or behaviour, a lack of initiative or changes in day to day function at home, at work or in taking care of oneself. This information does not include details about all of these warning signs, so it is recommended that you seek other sources of information. If you notice signs in yourself or in a family member or friend, it is important to seek medical help to determine the cause and significance of these symptoms.
Obtaining a diagnosis of dementia can be a difficult, lengthy and intensive process. While circumstances differ from person to person, Dementia Australia believes that everyone has the right to:
- A thorough and prompt assessment by medical professionals,
- Sensitive communication of a diagnosis with appropriate explanation of symptoms and prognosis,
- Sufficient information to make choices about the future,
- Maximal involvement in the decision making process,
- Ongoing maintenance and management, and
- Access to support and services.
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What Are The Different Types Of Dementia
Various disorders and factors contribute to the development of dementia. Neurodegenerative disorders result in a progressive and irreversible loss of neurons and brain functioning. Currently, there are no cures for these diseases.
The five most common forms of dementia are:
- Alzheimers disease, the most common dementia diagnosis among older adults. It is caused by changes in the brain, including abnormal buildups of proteins, known as amyloid plaques and tau tangles.
- Frontotemporal dementia, a rare form of dementia that tends to occur in people younger than 60. It is associated with abnormal amounts or forms of the proteins tau and TDP-43.
- Lewy body dementia, a form of dementia caused by abnormal deposits of the protein alpha-synuclein, called Lewy bodies.
- Vascular dementia, a form of dementia caused by conditions that damage blood vessels in the brain or interrupt the flow of blood and oxygen to the brain.
- Mixed dementia, a combination of two or more types of dementia.
What Is Dementia Symptoms Types And Diagnosis
Dementia is the loss of cognitive functioning thinking, remembering, and reasoning to such an extent that it interferes with a person’s daily life and activities. Some people with dementia cannot control their emotions, and their personalities may change. Dementia ranges in severity from the mildest stage, when it is just beginning to affect a person’s functioning, to the most severe stage, when the person must depend completely on others for basic activities of living.
Dementia is more common as people grow older but it is not a normal part of aging. Many people live into their 90s and beyond without any signs of dementia.
There are several different forms of dementia, including Alzheimers disease. A persons symptoms can vary depending on the type.
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Blood Tests Available Now
A blood test is available now, through your doctor, that delivers a result in about 10 days and accurately determines whether someone has Alzheimers disease. The Preclivity AD Test from C2N Diagnostics measures proteins in blood plasma that indicate a buildup of plaques known to cause dementia in peoples brains.
Cost
The cost of this Alzheimers blood test is $1,250, less expensive than a PET scan that looks for the same protein buildups. Unfortunately, the price tag cannot be covered by Medicare or Medicaid, but C2N says people who cant afford the test can qualify for a discount based on their income.
Does it Work?
C2N Diagnostics says they tested Preclivity AD in 686 people and compared it to the results of PET scans. When PET scans showed a high amount of amyloid-beta, a protein that turns to plaques and tangles in the brains of people with Alzheimers, the blood test agreed 92 percent of the time. When the PET scan showed no amyloid, the blood test showed the same about 77 percent of the time.
How to Get the Blood Test
The Preclivity AD Test has not been approved by the Food and Drug Administration. It is currently available only through a doctor, and can be sold by the company under rules for commercial laboratories. The test, in other words, is available despite lacking FDA approval, though C2N has said the FDA is planning on reviewing the test in 2021. The Alzheimers Association says it wont endorse the test until there is FDA approval.
How Long Do Dementia Patients Live After Diagnosis
Dementia symptoms typically progress slowly. People with dementia will progress from mild to severe dementia at varying speeds and may be diagnosed earlier or later in life. Some people with dementia may live for up to 20 years after their diagnosis, though according to the Alzheimer’s Association research shows that the average person lives for four to eight years after a diagnosis of dementia. It’s important to point out that the diagnosis of dementia is often missed, delayed, or diagnosed when the illness is moderate or advanced. The impact of that variable may not be accurately reflected in the research regarding the years of life post-diagnosis.
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Asking For More Information About Your Dementia Diagnosis
If you’re diagnosed with dementia, you can ask the doctor:
- which type of dementia you have
- about tests or investigations you should have
- how long you’ll have to wait until you have the tests
- how long it will take to get the test results
- what will happen after you get the results
To read more about living well with dementia, go to the NHS website.
What Tests Are Available
Routine testing is currently available on the NHS for mutations in several genes that cause dementia.
They are the Huntingtons disease gene , the three familial Alzheimers disease genes , and several frontotemporal dementia genes . These tests are only offered in very specific circumstances and with proper counselling.
Routine testing for risk genes like APOE is not available on the NHS and is not generally recommended.
What are the symptoms of dementia?
Dementia can cause a number of different symptoms. Learn about the changes and practical ways to manage them.
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How To Get Someone With Dementia To The Doctor
When Nothing WorksAs research for a dementia cure continues, memory and judgment.Theres a commonly used dementia test, Each type of dementia has different symptoms, Ask about diet,Game changer: Now theres a simple screening test for cognitive impairment or dementia that you or a loved one can take anywhere, this test is for you, Moviefone People often want to know if they can just take a test at home to assess their cognitive functioning, using just paper and pencil, Other illnesses and conditions can cause dementia-likeHow to Test for Dementia MethodUnfortunately, Repinned > The expert view is that its vital to get a diagnosis in order to start getting support in place, Fortune, Get
www.psycom.net 7-Minute Screen Test for Dementia Verywell Health www.verywellhealth.com Dementia Diagnosis and treatment Mayo Clinic www.mayoclinic.org
How You Can Handle Dementia Denial
Your parent does not have to accept that they have dementia for you to help them. Getting a diagnosis of dementia is more important for you as a caregiver to be able to best help your parent.
Alzheimers Disease International states that getting an early diagnosis of dementia will:
- Allow you to have the time to take advantage of therapies that may enhance their quality of life and slow the progression of the disease
- Give both you and your parent time to make decisions about financial and legal issues
- Prepare for the changes that will come as the disease progresses
Use the following steps to help guide you and your parent through a diagnosis of dementia:
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