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How Can A Genetic Counselor Help With Alzheimer’s

How Do I Start

Genetic counseling for dementia

Ask the doctor treating your Alzheimer’s to refer you to a few mental health professionals. They might include family therapists, social workers, psychologists, or psychiatrists.

When you have your first visit with the counselor you choose, theyâll ask you why you want counseling, what symptoms you have , and your medical history. You might get a survey to fill out with these questions.

Your answers will give the counselor a better idea of the best way to help you. You can discuss:

  • The best type of counseling for you
  • The best place to have it
  • Who will join in your treatment
  • How often you should have sessions
  • How long counseling may last
  • Any medications that might help you

Genetic Counseling And Testing

Many individuals who join the DIAN Expanded Registry do not know if a genetic mutation is the cause of the Alzheimers disease experienced in their family. For families who qualify, we offer potential participation in research to find out this information via the exploratory genetic counseling and testing program.

Medical Guidance Key To Understanding Results

Thanks to the internet, you can order at-home genetic tests with the click of button. But once you get your results, how do you know what they mean? Instead of picking up an off-the-shelf kit, you could also pursue testing through a genetic counselor, who can discuss your unique results in light of your personal and family medical history.

Regardless of which path you choose, its important to understand what these tests can be used for and what the results may mean.

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Red Flags To Consider Genetic Testing Or Genetic Consultation

Genetic testing for AD is only available for a small number of families with early-onset familial AD, with testing likely to be initiated in a living affected relative. If a gene mutation is found, other family members are eligible for testing for the identified family mutation. Clinical testing is currently not available for late-onset familial AD or sporadic cases. When there are multiple related affected individuals, research testing may be available. APOE e4 testing is not recommended for risk assessment because of low sensitivity and specificity.

Consider a genetics consult for patients with:

AD with age of onset < 60-65 years

Late-onset AD and multiple affected close relatives

Close relatives of the above two types of patients

A family member who has an identified mutation in the APP, PSEN1 or PSEN2 genes

to connect to your local genetics centre.

For Families In Which An Autosomal Dominant Ad Gene Mutation Is A Possibility

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  • Discuss the risk of inheriting a mutation from a parent affected with autosomal dominant AD is 50%. In the absence of identifying a mutation in apparent autosomal dominant families, risk to offspring could be as high as 50% but may be less.

  • Testing for genes associated with early-onset autosomal dominant AD should be offered in the following situations:

  • ⦠A symptomatic individual with EOAD in the setting of a family history of dementia or in the setting of an unknown family history .
  • ⦠Autosomal dominant family history of dementia with one or more cases of EOAD.
  • ⦠A relative with a mutation consistent with EOAD .

The Alzheimer Disease & Frontotemporal Dementia Mutation Database should be consulted before disclosure of genetic test results, and specific genotypes should not be used to predict the phenotype in diagnostic or predictive testing .

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Testing For Familial Alzheimers Disease

The decision to undergo testing for FAD is very complex and the advantages and disadvantages must be carefully considered. The test does not produce a relative risk of acquiring the dementia, but is a definitive prediction of whether a person will get a profound and progressive illness in ones middle years. The test can only be completed with the informed consent of the person being tested. No one should ever be pressured to have such a test.

Knowing that you are carrying the gene may help some people plan for the future. It enables them to consider future lifestyle choices and to let their wishes be known to someone they trust. However, given that no cure is available an individual has to consider whether they want to know that they will develop dementia at some time in the future.

To help people consider these issues specialised genetic counselling is essential. The doctor can provide details of this service. In the future, when preventive treatments for Alzheimers disease become available, there may be increased reasons to seek testing.

What Is Genetic Testing

Genetic testing is a laboratory test that looks for changes, called variants, in a persons genetic material. The test is usually performed on a blood sample, but sometimes other tissues in the body can be tested. In some situations, saliva can be tested. The genetic material that is analyzed could be chromosomes, genes or DNA. The result of a genetic test can confirm or exclude a suspected genetic condition or help determine a person’s chance of developing a genetic disorder or passing it down to children.

Many neurodegenerative diseases can be separated into a genetic form and non-genetic, or sporadic, form. Genetic testing can help distinguish between the two forms, especially when the symptoms of genetic and non-genetic forms of illness are similar or have overlapping symptoms.

For example, about 20% of FTD cases are genetic. About 80% of FTD cases have no identifiable genetic cause. These cases are considered non-genetic or sporadic. Genetic FTD and non-genetic FTD feature similar symptoms. Knowing whether or not a persons FTD diagnosis is genetic or non-genetic has important implications for family members. Usually a persons family history, when obtained by a genetic professional knowledgeable about neurodegenerative diseases, can provide valuable information about the likelihood of a genetic disorder. However, in certain instances, a review of the family history provides incomplete information about risk for others. Genetic testing may clarify risk for relatives.

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Does A Negative Result Mean A Person Won’t Get Dementia

No. A person with a negative result on a predictive genetic test may still develop dementia. The predictive test only shows whether a person will develop the type of dementia that is related to that specific single-gene change. It does not rule out the possibility of that person developing dementia because of other factors.

For Families In Which Autosomal Dominant Ad Is Unlikely

What Is A Genetic Counselor?
  • Genetic testing: In the event testing is chosen, the following is recommended:

  • ⦠Asymptomatic patients should receive a neurologic examination to assess for signs of dementia and to establish a baseline.
  • ⦠Assess patientâs and any accompanying family memberâs psychological state of mind. In the case of presymptomatic testing, a consultation with a psychologist/psychiatrist may be recommended for the patient as part of the HD testing approach.
  • ⢠If the patient seems to suffer from, or is potentially at risk for significant psychological/psychiatric problems, consider a psychotherapy referral before testing.
  • ⢠If the psychological assessment suggests testing is not in the personâs current best interest , these reservations should be shared openly, and an agreement should be made to revisit testing once the underlying condition and/or stressors have diminished. A referral for psychotherapy may also be appropriate.
  • ⦠Assess and review the psychosocial impact of testing on the patient and his/her family.
  • ⢠Reinforce results cannot be âtaken backâ
  • ⦠Discuss testing logistics, associated costs, and possible outcomes.
  • ⢠For EOAD genes, determine best approach to testing for patient .
  • ⢠Discuss where results will be kept .
  • ⢠Determine who will accompany the patient to the result session for support.
  • ⦠Obtain informed consent for all genetic testing for AD.
  • Discuss the availability and status of AD research and/or DNA banking.

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    Where To Go What To Eat

    There are variations within these genes, coding three proteins amyloid precursor protein , presenilin-1 and presenilin-2 . When Alzheimers is caused by these deterministic variations, it is called autosomal dominant Alzheimers disease, or ADAD or more commonly, familial Alzheimers disease.

    Deterministic gene variations in the disorder have been found only in a few hundred extended families worldwide, and true familiar Alzheimers accounts for less than 1% of cases.

    Genetic testing is available for these gene variations, but must be carefully considered by the individual and his or her health care provider.

    Mapping out the pros and cons of undergoing these tests consultations with close friends and families and other health care professionals and weighing future options are all things to think about when making the decision to be tested.

    If someone with a high risk or with the familial gene for younger-onset Alzheimers is found, this information could have an impact on future health care, disability and life insurance, employment, as well as possibly cause great anxiety and depression. That person’s future plans surrounding his or her family are affected, and life changes are inevitable.

    Plans to go forward with genetic testing should be thoroughly considered and discussed extensively with skilled genetic counselors. A genetic counselor can be found through the National Society of Genetic Counselors.

    Improving Genetic Counseling For Dementia In The Age Of Exome Testing

    Research, Clinical Care, Discoveries Made Possible By You, ADRC News

    For the past five years, a team of UW Medicine researchers and medical professionals have been working to better understand how to best provide genetic testing and counseling for individuals and families affected by early onset and familial dementia. Genetic testing has become more powerful at identifying causative genetic factors, and it is in increasing demand. Yet, there have been few studies that explore the impact of new genetic testing approaches in this population or that describe the patient experience of receiving counseling before and after the test.

    Suman Jayadev, MD

    Now, a team led by Suman Jayadev, MD, Associate Professor of Neurology, and Brad Rolf, MS, CGC, Genetic Counselor, has published the first-ever study to assess the impact of exome genetic testing and counseling for individuals living with cognitive impairment due to a neurodegenerative condition. Exome testing is a method to identify rare genetic variants that could be related to disease. The study involved participants with a higher chance of having a genetic variant causing their cognitive impairment, namely people with a strong family history and those with early- onset symptoms.

    Brad Rolf, MS, GCG

    Jonathan Bailey, NHGRI

    Study: Rolf B, Blue EE, Bucks S, Dorschner MO, Jayadev S. Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. J Genet Couns. 2021.

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    What Is Not Covered By Gina

    • Life, long-term care and long-term disability insurance
    • People with symptoms of disease due to a genetic cause
    • People in the US Military or veterans receiving health care through the Veterans Health Administration the US Military and the VA have developed their own policies to protect people with a genetic diagnosis

    Genetic Testing For Alzheimer’s Disease

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    A blood test can identify which APOE alleles a person has, but results cannot predict who will or will not develop Alzheimer’s disease. Currently, APOE testing is used primarily in research settings to identify study participants who may have an increased risk of developing Alzheimer’s. This knowledge helps scientists look for early brain changes in participants and compare the effectiveness of possible treatments for people with different APOE profiles.

    Genetic testing is also used by physicians to help diagnose early-onset Alzheimers disease and to test people with a strong family history of Alzheimers or a related brain disease.

    Genetic testing for APOE or other genetic variants cannot determine an individuals likelihood of developing Alzheimers diseasejust which risk factor genes a person has. It is unlikely that genetic testing will ever be able to predict the disease with 100 percent accuracy, researchers believe, because too many other factors may influence its development and progression.

    Some people learn their APOE status through consumer genetic testing or think about getting this kind of test. They may wish to consult a doctor or genetic counselor to better understand this type of test and their test results. General information about genetic testing can be found at:

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    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.

    The Value Of A Genetic Counselor

    Whether you have a personal or family history of FTD, or whether past misdiagnosis could potentially be masking one, AFTD strongly recommends that you consider genetic counseling as a first step to answering questions about your genetic status.

    A genetic counselor can evaluate the likelihood that your or your familys condition has a genetic cause. A genetic counselor can help you think through the benefits and risks of genetic testing and ways to talk to family members about genetic testing, privacy concerns, and more.

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    What Are The Benefits Of Diagnostic Testing

    Diagnostic testing for dementia can be helpful in several ways:

    • It can provide certainty about the persons diagnosis. This may then help the person and their family to come to terms with the diagnosis and allow them to plan for the future.
    • It can help them decide if they want to have children and, if so, how they might avoid passing the disease on.
    • It makes it possible for members of the persons family to have predictive testing if they want to.

    Do Genes Cause Diseases

    A genetic test for Alzheimer’s risk.

    Genetic mutations can cause diseases. If a person inherits a genetic mutation that causes a certain disease, then he or she will usually get the disease. Sickle cell anemia, cystic fibrosis, and some cases of early-onset Alzheimer’s disease are examples of inherited genetic disorders.

    Other changes or differences in genes, called genetic variants, may increase or decrease a person’s risk of developing a particular disease. When a genetic variant increases disease risk but does not directly cause a disease, it is called a genetic risk factor.

    Identifying genetic variants may help researchers find the most effective ways to treat or prevent diseases such as Alzheimer’s in an individual. This approach, called precision medicine, takes into account individual variability in genes, environment, and lifestyle for each person.

    The expression of geneswhen they are switched on or offcan be affected, positively and negatively, by environmental and lifestyle factors, such as exercise, diet, chemicals, or smoking. The field of epigenetics is studying how such factors can alter a cell’s DNA in ways that affect gene activity.

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    How Will Genetic Testing Help You And Your Patient

    In the case of genetic testing for early-onset familial AD, a positive test result for a known family gene mutation can result in:

    • Relief from uncertainty
    • An increased feeling of control
    • Opportunity to plan life decisions

    A negative test result for a known family gene mutation for early-onset familial AD can result in:

    • Relief from fear of developing early-onset AD
    • Knowledge that children are not at risk for early-onset AD

    Genetic Causes Of Dementia

    One rare form of Alzheimers disease is passed from generation to generation. This is called Familial Alzheimers disease . If a parent has a mutated gene that causes FAD, each child has a 50% chance of inheriting it. The presence of the gene means that the person will eventually develop Alzheimers disease, usually in their 40s or 50s. This form of Alzheimers disease affects an extremely small number of people probably no more than 100 at any given time among the whole population of Australia.

    Three genes have been identified which, if mutated in certain ways, will cause FAD. These are called presenilin 1 , presenilin 2 and the amyloid precursor protein gene on chromosome 21.

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    What Genetic Testing Is Used For

    Genetic testing is the process of assessing your risk factors for genetic conditions and can provide insight into a variety of conditions and related concerns, such as:

    If you meet with a genetic counselor, youll have the opportunity to discuss your family history and receive personalized baseline risk information. This can help guide testing decisions, including an explanation of what can be tested for and why. A genetic counselor can also provide information to help you learn about the causes of an inherited disorder.

    DNA can be obtained through either blood or saliva. Once your DNA samples are submitted, depending on the test, you may have to wait two to 12 weeks to receive the results. When samples are submitted to a HIPAA-compliant and CLIA-certified laboratory, testing is focused on a specific group of genes. You can choose to have the laboratory keep the sample on file for further testing in the future or destroy it. Either way, your safety and privacy are protected by law.

    What Is Genetic Counseling

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    Genetic counseling is the process of helping people understand and adapt to the genetic contributions to disease. The process integrates the following elements:

    • Interpreting family history and medical information to assess a persons risk of disease or risk for family members
    • Education about inheritance, testing, management, prevention, resources and research
    • Counseling to promote informed decision-making and adaptation to the risk or condition

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    Your Guide To Your Genetic Code

    Meet with a genetic counselor if you have concerns about how your genes affect your health. Our counselors are here to offer emotional support and help you understand the complexities of your genes. If you have questions about genetic testing, our genetic counselors have the answers.

    At Sanford Health, we integrate genetic counseling services with primary care. Your genetic counselor will coordinate with your primary care doctor to make sure your results appropriately impact your health care.

    See a genetic counselor if youre considering genetic testing or if youre concerned about inherited diseases in your family. Your results will help you make informed decisions about your health.

    Find a Genetic Counselor

    Talk with one of our genetics specialists before testing. If you choose to get tested, your counselor will help you understand your test results.

    Specialized Genetic Services

    Genetic counseling specialists mainly provide two services. They identify the role genetics play in patients health and provide emotional support to patients with inherited disorders.

    Genetic counselors can:

    Our genetic counselors will often specialize in a particular condition or service. We have counselors specializing in cancer, heart disease, fertility and more. Find a genetic counselor specially trained to address your unique health needs.

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