Is Genetic Counseling An Option For Alzheimer’s

Possible Risks Of The Apoe4 Test

There are potential psychological and economic risks of genetic testing. These possible effects are likely to be of less concern for a patient already diagnosed with dementia than for members of the patient’s family confronting their own risk for inheriting the disease susceptibility. Adverse psychological effects include anxiety or stigmatization as a result of knowledge of increased genetic susceptibility. Children of an affected person are at increased risk for AD on the basis of their family history ,,, even in the absence of APOE testing. If a parent with AD is found to be homozygous for APOE4, the children, who will thus have at least 1 copy of the APOE4 allele, have at least a 2 to 3 times higher risk than average of developing AD. They are estimated to have a 61% risk of developing AD. They are estimated to have a 61% risk of developing it by age 90 and a higher risk of developing AD before age 65 . Although knowledge of their parent’s APOE status may indicate increased risk, it does not allow offspring to anticipate with certainty whether they will develop AD and, if so, at what age. Nor is there treatment available to carriers of APOE4 alleles to prevent the disease.

A Variant Of Uncertain Significance

• A variant of uncertain significance, or VUS, is a change in a gene whose interpretation is not known.
• If you have symptoms, a VUS can neither confirm nor exclude a genetic diagnosis. More information is needed to interpret this result. Sometimes a laboratory will have more information. When a laboratory has no additional information, this result cannot be interpreted further.
• If you have no symptoms, a VUS may increase or decrease your future risk to develop a neurodegenerative disease. Or, a VUS could be neutral and have no impact on risk for a disease. In some instances, this result cannot be interpreted further.

Alzheimer’s Prevention Initiative Generation Program: Development Of An Apoe Genetic Counseling And Disclosure Process In The Context Of Clinical Trials

Banner Alzheimer’s Institute, Phoenix, AZ, USA

Neurodegenerative Disease Research Center, Arizona State University, Tempe, AZ, USA

Department of Psychiatry, University of Arizona School of Medicine Phoenix, Phoenix, AZ, USA

Department of Psychiatry, University of Arizona, Tucson, AZ, USA

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA

Arizona Alzheimer’s Consortium, Phoenix, AZ, USA

Banner Alzheimer’s Institute, Phoenix, AZ, USA

Neurodegenerative Disease Research Center, Arizona State University, Tempe, AZ, USA

Department of Psychiatry, University of Arizona School of Medicine Phoenix, Phoenix, AZ, USA

Department of Psychiatry, University of Arizona, Tucson, AZ, USA

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA

Arizona Alzheimer’s Consortium, Phoenix, AZ, USA

Carolyn LangloisAngela BradburyBeth McCarty WoodJ. Scott RobertsScott KimFonda LiuEric ReimanPierre TariotJason KarlawishJessica Langbaum

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Genetic Testing For Autosomal Dominant Ad In Adults

The use of genetic testing for diagnostic purposes in early-onset autosomal dominant AD has long been debated by clinicians in the dementia field.,, Although mutations are rare and testing may reveal variants of unknown significance, genetic testing may result in definitive diagnosis, improve understanding for the family, and allow at-risk relatives to have the option of predictive testing., Genetic counseling for symptomatic patients should be performed in the presence of the individualâs legal guardian or family member to help assess the level to which he/she is able to understand the purpose and possible results of the genetic test and to provide informed consent .

Protocols for genetic testing for AD.

With respect to asymptomatic individuals, there are concerns genetic testing may trigger an untoward psychological response, such as severe depression, anxiety, or even suicidal ideation. However, research studies and clinical experience indicate that the majority of those tested using a standardized counseling protocol demonstrated effective coping skills and absence of negative psychological reactions after several months and found the testing to be beneficial, although the long-term effects of predictive testing for EOAD remain to be seen.â Common reasons for testing included concern about early symptoms of dementia, financial or family planning, and relief from anxiety.

What To Expect In Your Consultation

A genetic counseling appointment includes the provision of information, a discussion of a patients genetic questions or concerns, and an offering of support, guidance and/or additional referrals.

During a consultation, a genetics counselor will:

• Obtain your family history
• Determine your risk for a genetic disorder based on review of your personal medical history and family history
• Discuss the potential impact of genetic testing on your current and future health, care, financial and/or family planning
• Identify the appropriate genetic test and facilitate sample collection
• Interpret the results of genetic tests
• Offer supportive counseling in the face of difficult situations and feelings
• Respect your individual beliefs, traditions and feelings
• Serve as patient advocates
• Discuss reproductive options
• Explore strategies for communicating information to others, especially family members who may be at risk
• Provide written materials and referrals to support groups, other families with the same or similar condition and/or local and national service agencies

A genetic counselor will not:

• Tell you which decision to make
• Advise you not to have children
• Recommend that a woman continue or end a pregnancy
• Tell you whether to undergo testing for a genetic disorder

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Identifying Information And Availability

Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T, American College of Medical Genetics and the National Society of Genetic Counselors. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011 Jun 13:597-605. PubMed

Not applicable: The guideline was not adapted from another source.

National Society of Genetic Counselors

Not stated

The authors declare no conflict of interest.

This is the current release of the guideline.

Electronic copies: Available from the Genetics in Medicine Web site.

• Risk of developing Alzheimer disease
• Risks and benefits of genetic testing for AD

Overview Of Genetic Testing In The Setting Of Eoad

Mrs. Castle has a strong family history of Alzheimers disease , which represents 60-70 percent of dementia cases worldwide . Like other forms of dementia, AD causes progressive deterioration in cognitive, emotional, and social functioning .

AD is categorized as early onset or late onset . The early-onset form of the disease represents 10 percent of all AD cases . Strikingly, the inherited genetic contribution to EOAD is estimated to be 92-100 percent . Strictly speaking, EOAD is not synonymous with autosomal dominant AD, but because autosomal dominant AD is found almost exclusively in families with EOAD, this article will use these terms interchangeably .

Genetic testing for EOAD detects any of the three known autosomal dominant mutations in the amyloid precursor protein and presenilins 1 and 2 genes . Mutations in the APP and PSEN1genes are completely penetrant, so people with the mutant allele will develop AD if they live a normal lifespan . A person with either of these mutations has a 50 percent chance of passing the mutant allele on to each child . By contrast, mutations in PSEN2 are 95 percent penetrant . Although mutations in any of the three known EOAD genes are causative, these mutations only account for 5-10 percent of all cases of EOAD . In short, a person can receive a negative test result for these mutations and remain significantly at risk for developing EOAD.

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Benefits Of Genetic Counseling

Genetic counseling is an interactive process focused on educating the patient about the inheritance, progression, and management of genetic disease . A genetic counselor would discuss Mrs. Castles eligibility for testing and serve as a neutral source of information and a partner in reflection as she considers the available options in light of their risks and her own values .

Per current medical guidelines, people who have symptoms of EOAD, at least one family member with EOAD, and/or a family member with one of the known causative mutations, are eligible for genetic testing . As Mrs. Castle has two family members with EOAD and is herself apparently symptomatic, she is a candidate for genetic testing. Given the clinical ramifications and emotional burden of genetic testing, the guidelines advise that testing proceed only with neurological evaluation and with genetic counseling both pre- and posttest . Simply put, this process is very time intensive.

Figure 2. Genetic testing decision tree

What Tests Are Available

Routine testing is currently available on the NHS for mutations in several genes that cause dementia.

They are the Huntington’s disease gene , the three familial Alzheimer’s 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 Do I Start

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

Alzheimer’s Society’s View On Genetic Testing

What we think about genetic testing and how it relates to the needs of people affected by dementia.

Genes play a role in the development of many types of dementia, although the extent of this role varies between dementia types. A person with a parent or sibling with a dementia such as Alzheimers disease has on average a higher risk of developing the same condition themselves, although other factors such as lifestyle can also play a part.

At present, the relationship between genetics and dementia is not fully understood. We do know that a mutation in one of a small number of genes can cause someone to develop frontotemporal dementia or rarer, inherited forms of Alzheimers disease. These conditions both often start in people under the age of 65.

Predictive genetic testing is where the genes of someone who is related by birth to a person with diagnosed dementia are tested. The genetic test aims to see whether the relative has inherited the same mutation and so will go on to develop the dementia. At present such predictive genetic testing is only possible for inherited Alzheimer’s disease, in which very rare mutations in three genes are implicated, and frontotemporal dementia, which has known mutations in at least six genes. The most common form of Alzheimers disease affects about 520,000 people in the UK and most often starts in people over the age of 65. There are no approved predictive genetic tests for this form of the condition.

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My Gene Counsel Offers Personalized Genetic Counseling Reports For Those With Positive Alzheimers Gene Test Result

Digital health company provides answers and guidance to help people with positive APOE result.

NEW HAVEN, CONN. JUNE 04, 2019

My Gene Counsel, a digital health company that provides personalized, easy-to-understand, web-based genetic counseling, today announced that the company has expanded its content to include reports for those who test positive for a variant in the APOE gene through 23andMes consumer DNA testing. The expansion is another step in My Gene Counsels goal to service the entire range of genetic test results.

The APOE gene, which is responsible for creating a protein that helps maintain normal levels of cholesterol and fats in the bloodstream, is associated with varying risks of developing Alzheimers disease.

Although most experts do not recommend genetic testing for APOE, we saw a need to expand our digital genetic counseling content because of the direct-to-consumer testing currently available in the marketplace, said Ellen Matloff, president and CEO of My Gene Counsel. Understanding your risk for Alzheimers based on genetics is complicated. Having access to genetic counseling is important to help consumers better interpret and manage the results.

My Gene Counsel offers personalized Living Lab Reports® that help users understand the meaning of genetic test results, evaluate options for next steps, and guide family members through the implications of the results. The content in the reports is:

Interview With Jennifer Williamson

Jennifer Williamson is a genetic counselor at the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain and the Gertrude H. Sergievsky Center at Columbia University, New York. She sees families with neurogenetic disorders for which testing is available but that have no cure. Her article, with Susan LaRusse, “Genetics and genetic counseling: recommendations for Alzheimer’s disease, frontotemporal dementia, and Creutzfeldt-Jakob disease,” is widely read among her colleagues . The paper describes different types of available genetic testing, and discusses the counseling challenges involved in helping patients and healthy relatives make informed and autonomous decisions. For more detail on the issues raised in this conversation, see the essay Early Onset Familial AD: Genetic Testing and Counseling. See also Protocol for Predictive Testing.

ARF: How often do you see people with eFAD?

Williamson: I rely on the physicians in our Alzheimer Disease Research Center to let me know when they have a family that could benefit from genetic counseling. I see about a dozen a year.

ARF: Why is it important to have genetic counseling in this situation?

ARF: What protocol are you using?

ARF: Is there a consensus protocol that genetic counselors tend to adhere to, or is every center following its own?

ARF: Is there universal consensus on the need for genetic counseling for neurogenetic testing?

ARF: Do families really want counseling?

ARF: What are the issues?

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Genetic Testing And Counselling

If you have a relative with a form of dementia and you are worried about inheriting the condition, you should speak to your GP.

Most people with the more common types of dementia will be reassured to know that the pattern of dementia in their family is down to chance, risk genes, medical factors or shared lifestyles.

With dementia becoming more widely diagnosed, 1 in 4 people aged over 55 now has a close birth relative with the condition. However, when all dementia is looked at, the fraction that is inherited as a simple single-gene mutation is very small.

What Happens When I See A Genetic Counselor

Most genetic counseling is provided in-person to an individual, couple, or family, typically in a clinic or doctors office. Depending on the specific reason for your consultation, the genetic counselor may:

• Review your personal and family medical history
• Identify possible genetic risks and discuss inheritance patterns
• Review appropriate testing options
• Discuss prevention strategies, screening tools, and disease management
• Provide genetics-related information and reliable resources
• Provide supportive counseling to help you with topics that arose during the consultation

In some cases you may speak with a genetic counselor once, or you may work your counselor over time. As questions about your genetic health arise, genetic counselors are available to help.

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What Is A Genetic Counselor

A genetic counselor is a specially trained health professional with experience in medical genetics and counseling. Genetic counselors provide information and support to individuals who have a genetic condition or a family history of a genetic condition.

Genetic counselors can provide information about conditions, analyze inheritance patterns in families, discuss the chance to inherit a condition, and review available options with the family. Genetic counselors also serve as patient advocates, educators and resources for other health care professionals and for the general public.

Genetic Counselor For The Center For Personalized Genetic Healthcare Genomic Medicine Institute

Amy earned her Masters Degree in Genetic Counseling from the University of South Carolina School of Medicine. She is Board Certified and licensed to practice genetic counseling. In addition to seeing patients in prenatal and general genetics clinics, she also is the genetic counselor for the Cleveland Clinics Comprehensive Huntington Disease Clinic and patients with Lysosomal Storage Disorders.

Q1: What process does a patient go through to see you at CPGH for genetic counseling?

Our patients typically need to be referred from a treating physician this could include a primary care physician or specialist. For example, we meet with patients referred to us from Cleveland Clinic Lou Ruvo Center for Brain Health at our two locations, in Cleveland and Las Vegas.

Patients ideally would bring their family health history and health records to help find any possible risks of Alzheimer disease . For example, identifying family who were affected with AD like symptoms and at what age those symptoms started.

Q2: Alzheimer disease is fairly common. Is there any specific type of AD patient that should be referred to genetics?

Q3: Do you think there will come a day that everyone will want to be tested to see if they are at risk for AD?

Q4: Why should someone with AD in their family see you at CPGH?

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Genetic Testing And Counseling For Early Onset Familial Alzheimer Disease

“I am finding out this month. If I have it, I will never have kids. It’s got to stop somewhere in our family.” Tom Drury , 36.

“If I knew I carried the mutation, I would not be able to get up in the morning.” Jane Smith , 26, at risk for eFAD.

Interview with a Genetic Counselor: Jennifer Williamson is a genetic counselor at the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain and the Gertrude H. Sergievsky Center at Columbia University, New York

Genetic Status Protocol: Get a sense of the careful process you may want to ask for should you decide to find out about your genetic status.

Introduction Early onset familial Alzheimer disease is an autosomal-dominant genetic disease. This means that in each family it is caused by a mutation in a single gene, and that a single copy of the mutant gene, inherited from one parent, will cause the disease. The discovery in the mid 1990s of eFAD genes aroused the specter of knowing one’s genetic future, not only for patients but also for their children and entire families. Indeed, the age of genetic testing is here. DNA testing has been used since the mid-1990s for Huntington disease and certain types of cancer. The experience with these families provides helpful guidance for families with eFAD, who have turned to genetic testing more recently. Indeed, there is a large literature on genetic testing for HD and a small but growing literature for AD.