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
Genetic Testing For Alzheimer’s Has Emotional Risk
August 18, 2020 â Twelve years ago, Jamie Tyrone volunteered to participate in a clinical trial. The researchers wanted to know whether learning your genetic risk for developing some 20 or so different diseases, through a direct-to-consumer genetic test, would prompt you to take up a healthier lifestyle. But Tyrone wanted to get something else out of the study.
The San Diego-based retired nurse, now 59, had been living with mysterious progressive neurological problems for about 15 years. The debilitating weakness and fatigue had pushed her into early retirement. Sometimes she needed a scooter to get around the one-story ranch she and her husband bought to accommodate her increasing physical challenges. But doctors had never made a definitive diagnosis. While brain scans ruled out multiple sclerosis, this clinical trial would tell her if she had a gene that predisposed her to the condition.
So focused on learning her genetic risk for MS, Tyrone didnât give any thought to the other diseases sheâd learn her risk for, including Alzheimerâs disease.
Tyrone had two copies of the e4 variant of the APOE gene — one inherited from her mother and one from her father. Someone who has one copy of e4 may be three times as likely to develop Alzheimerâs disease as someone who doesnât have it. Two copies can make you up to 12 times more likely to develop the disease. Tyrone was devastated.
Finding A Genetic Counselor And Genetic Testing
There are many ways to access genetic counseling and testing. At this time, all genetic testing must be ordered through a healthcare provider, although sponsored testing programs may be able to connect you to a provider. Physicians vary in knowledge on genetic testing and their comfort in ordering such tests. People considering genetic testing for FTD should speak with a genetic counselor about their personal risk and to understand the testing process and possible results.
Genetic counselors are located in hospitals throughout the country and available by telemedicine. The Find a Genetic Counselor service, available through the National Society of Genetic Counselors, will allow you to search for genetic counselors by zip code, by specialty, and by whether they offer services by telehealth.
Genetic counseling providers associated with sponsored testing programs include:
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How Can I Get The Most Out Of A Genetic Counseling Appointment
Being prepared will help you get the most out of your genetic counseling appointment. Here are some tips to prepare for your appointment:
- Ask your relatives about medical conditions in your family
- Gather any medical records related to your concerns
- Bring a list of written questions to your appointment
You may not be able to get all the details, but the more information you have, the more your genetic counselor can help.
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.
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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
Impact Of Knowledge Gain On Momentary Affect
As a group, participants showed a decrease in negative affect with increased knowledge, likely owing to corrections of misconceptions about the condition that alleviated distress. The gain in knowledge, including discussion of symptoms that may develop, potentially helped individuals regulate emotions and control negative affect, which has been demonstrated in studies of psychotherapy in anxiety disorders. The effect size of our finding, however, was modest, and may have reflected low baseline negative affect or the influence of other aspects of the research visit . Two participants who reported symptoms of a moderate to severe degree of depressed mood and anxiety at baseline showed no change in negative affect after counseling, each experiencing varying levels of negative affect. The two participants who reported only a moderate degree of depressed mood showed improvement in negative affect after counseling. Thus it may be that high state anxiety interferes with the amelioration of negative affect from counseling. The one participant who showed a significant increase in negative affect after counseling showed no evidence for baseline depressed mood or anxiety. Overall, there appear to be factors unrelated to mood that can lead to worsening of negative affect that have yet to be identified and deserve further exploration.
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Does Alzheimers Disease Run In The Family The Dilemma Of Genetic Testing
The brain controls everything from how we process visual images to our ability to speak to our movements, like swinging a bat or knitting. Millions of Americans suffer with neurological conditions that affect movement, the most prevalent of which are essential tremor , Alzheimers disease, epilepsy and Parkinsons disease.
These diseases disrupt patients lives in different ways, especially when theyre degenerative, said Duff Rardin, MD, a physician with Mission Neurology.
Genetic testing is advised for some movement disorder patients and their family members. Knowing you have a higher disease risk can paralyze you emotionally, said Dr. Rardin. If no preventive treatment exists for the disorder, testing has dubious value.
Genetics is Personal
Pursuing genetic testing is a very personal decision, particularly for early onset Alzheimers disease . The knowledge that one is nearly certain to develop AD prior to age 65 may allow for life decisions and prioritization of life goals. On the other hand, learning this information can be overwhelming, isolating and trigger significant anxiety, said Carolyn Wilson, a genetics counselor with Mission Healths Fullerton Genetics Center. Its important to keep in mind genetic testing is much more involved than a simple blood test.
Alzheimers Disease at an Early Age
When warranted, genetic testing results alone arent enough. They must be interpreted with a counselor to be fully understood and useful, said Dr. Rardin.
Evolution Of Genetic Testing Supports Precision Medicine For Caring Alzheimer’s Disease Patients
Genetic testing in Alzheimer’s disease provides information on personal risk.
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Genetic counseling should be an integral part of genetic testing.
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Next-generation sequencing favors analysis of hundreds of genes simultaneously.
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Genomic analysis is the basis of the calculation of polygenic risk scores.
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PRS allows risk stratification of the patient for the precision medicine approach.
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Health & Wellnessmore Than Brca: The Other Life
Without explanation from a doctor or genetic counselor, people with a negative result may think theyll never get cancer, or be convinced they can now skip mammograms and other routine screening, said Karen Grinzaid, assistant professor of human genetics at Emory University School of Medicine in Atlanta. Shes the executive director for JScreen, a non-profit based out of the school’s department of human genetics. It specializes in screening for more than 200 genetic diseases that are commonly found in both the Jewish and general populations.
JScreen also involves submitting a saliva sample via an at-home kit, but it doesnt consider itself to be a direct-to-consumer genetic option because its medical-grade testing ordered by a doctor, with genetic counseling follow-up, Grinzaid said.
I think people need to be really careful. If a persons goal is to find out about their hereditary cancer risk, they need to do testing in the right way, she noted.
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.
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Knowledge Assessment And Psychological Impact Of Genetic Counseling In People At Risk For Familial Ftd
Departments of Neurology and Psychiatry, Frontotemporal Disorders Unit and Alzheimer’s Disease Research Center, Boston, Massachusetts, USA
Correspondence
Departments of Neurology and Psychiatry, Frontotemporal Disorders Unit and Alzheimer’s Disease Research Center, Boston, Massachusetts, USA
Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
Departments of Neurology and Psychiatry, Frontotemporal Disorders Unit and Alzheimer’s Disease Research Center, Boston, Massachusetts, USA
Correspondence
Departments of Neurology and Psychiatry, Frontotemporal Disorders Unit and Alzheimer’s Disease Research Center, Boston, Massachusetts, USA
Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
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.
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What Sort Of Qualifications Does A Genetic Counselor Have
A genetic counselor is a health professional with specialized training in medical genetics and counseling. Most genetic counselors have a Master’s degree in genetic counseling, although some have degrees in related fields, such as nursing or social work. Genetic counselors are certified through the American Board of Genetic Counseling and must participate in continuing education to maintain their certification.
To Know Or Not To Know
Unlike Tyrone, Gregory thinks everyone should learn their APOEe4 status. But also unlike Tyrone, she has not seen family members die of Alzheimerâs disease — though she learned since her test that she has a strong family history of the condition.
Gregory admits that she still worries about her brain health, and imagines she always will, every time she forgets something. But she has no regrets. âHad I not learned this, I never would have made any of these changes,â she says. âThis information has truly saved my life.â
Ultimately, the choice to take an APOEe4 test is a very personal one. But keep in mind, once you know your status, you canât reverse that knowledge. Whether or not the information saves your life, itâs likely to change it.
âThink hard about your decision,â Tyrone says. âGet your financial house in order first. Think about how the information might affect your family. Talk to a genetic counselor. And ask lots of questions. This is not to be taken lightly.â
Jamie Tyrone, author Fighting for My Live: How to Thrive in the Shadow of Alzheimerâs, San Diego.
Scott Weissman, MS, CGC, Chicago Genetics, Chicago.
Shirley Wu, PhD, director, Health Product Science, 23andMe, San Francisco.
New England Journal of Medicine: âEffect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk.â
Alzheimerâs Association: â2019 Alzheimerâs Disease Facts and Figures,â âGenetic Testing Statement.â
News Release, FDA.
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Genetic Testing For Ftd
As with genetic testing for Alzheimers disease, FTD genetic testing is expensive and complicated. For that reason, an algorithm was developed for sequential genetic testing . Genetic testing for FTD is greatly facilitated by having a pathological diagnosis on an affected family member. An autopsy will guide genetic testing by eliminating the need to test certain genes . However, autopsy information is not usually available. Thus, the sequence of genetic tests for symptomatic patients usually depends on the clinical symptoms and family history.
What You Need To Knowfirst
NEW YORK Persons wishing to learn their genetic risk for Alzheimers disease by way of an at-home genetic testshould first consider consulting with their doctor and a genetic counselor, according to a commentary authored by AFAs Medical, Scientific & Memory Screening Advisory Board, among other recommendations aimed at physician-scientists, policymakers, and the commercial genetic testing industry. The article was published online today in the Journal of Alzheimers Disease .
Before pursuing any kind of genetic testing, it is essential that consumers are fully informed and understand the benefits, limitations and other implications of learning ones personal health information, says Charles J. Fuschillo, Jr., President and CEO of the Alzheimers Foundation of America . This includes having insight on how a test result might impact the individual and their family emotionally, particularly in the case of Alzheimers in the absence of a cure, or an effective treatment.
The number of consumers accessing their genetic information has exploded, since the April 2017 FDA approval of direct-to-consumer testing for genetic disease risks. Among the genetic tests available is one to determine APOE statusapolipoprotein-E, a susceptibility gene for late-onset Alzheimers disease. And with effective and sustained marketing campaigns by commercial testing entities, the sales of the tests have already skyrocketed .
Technical Notes
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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.