Genetic counseling for Alzheimer's disease risk assessment and family impact

Genetic counseling involves the sharing vital information and knowledge by experienced and well trained experts in the field of genetics for individuals with high risks of suffering some genetic disorders or transferring it to their children. It is the responsibility of a genetic counselor to provide relevant information concerning the hereditary nature of certain diseases and their risks of reoccurrence; addresses the concerns of patients, their health care providers and their families; and lends assistance to both the patients suffering these hereditary ailments and their families.

The first genetic counseling center was the Hereditary Clinic established at the University of Michigan in the United States in 1940. Since then, several such centers have been established in different parts of the world.

Through genetic counseling, information is made available to give the needed support to people who are dealing with any genetic disorder or at risk of developing one. When dealing with a genetic disorder or at a high risk of developing one, a genetic counselor books an appointment with you to talk to you about the risks. The genetic counseling could be for the patient or their family.

You may also get a genetic counseling when you are expecting a new baby. You may also follow up with some genetic examinations. (WHO, 2016).

Patient Background

In the fall of 2006, Eileen was diagnosed with Alzheimer's disease officially. She retired from her job a few years earlier because of the physical problems and symptoms brought about by the disease. Even after she had undergone some treatments, no significant improvement has been recorded. Her family members are feeling the pains all over again because of the ailment, and she can hardly find the words to express her desire not to burden her loved ones. There are days she finds it hard to get up from bed, but she defies the chronic pains and refuses to stay in bed usually. It is common for her to fail to recognize people she has always known. She speaks in a terrible manner, and all these abnormalities make her very uncomfortable. Now we hear there are some new medications available, and the news excites her. She is due for a 6-month check up at the nearest Alzheimer clinic. Her daughters are at the peak of their lives. The two girls won full college scholarships owing to their athletic prowess and have successful careers ahead of them. However, their mum's condition takes its toll on them as it does on their father. At 55, she has enjoyed only the first 19 years of her life. We have never stopped contributing for researches financially. This is one terrible way to live one's life, and I can say she has lived her life fully on God's conditions. She never stops praying daily for herself and the entire family that things would change for the better at some point.

Reason for the genetic counseling of Eileen based on the findings from the history tool

People go for genetic testing for different reasons, which include:

• A history of genetic disorder in the family

• To gain more information about genetic tests for ailments that a particular ethnic group is prone to such as; the high risks of Tay-Sachs disease among Ashkenazi Jews and the prevalence of Sickle Cell Anemia among African-Americans.

• To talk about an unusual test results when expecting a baby such as: ultrasound, blood test, amniocentesis, or chorionic villus sampling (CVS).

• To understand the increased chances of some particular genetic disorders (e.g. Down Syndrome) in a baby whose expectant mother is up to 35 years old and above, or harbors the fears of having a genetic disorder.

• To be more informed about the adverse effects of excessive exposure to chemicals, x-rays, diseases or prescribed/illegal drugs during pregnancy.

• A woman with several records of aborted pregnancies

• Infertility issues (conception difficulties)

• A birth defect or a genetic disorder was recorded in an earlier pregnancy

• A child was born with some disabilities, defects, or other deformities discovered through newborn screening

• To discover the existence of a genetic cause for any sort of health problems of developmental delays

• One of the preparatory steps for experiencing a pregnancy without complications and having a healthy baby (such as screening for genetic conditions)(CDC, 2015).

The device proved the possibility of Alzheimer's disease developing in the patient, the following reasons necessitates a genetic counseling;

Familial AD is an exemplified by diseases that affect more than a single person, and not less than two of the affected persons must be 3rd degree relatives or even siblings. Familial clustering represents about 15-25% of all AD cases. In most cases, these involve families whose LOAD are up to (15-25% of the entire LOAD cases), but about 47% of all EOAD cases contain some records of familial clustering (Brickell, et al., 2006). The familial EOAD cases can stand for concealed autosomal overriding AD as a result certain cases of early death or undersized families (Campion, et al., 1999).

The most common cause of dementia is Alzheimer disease. It can affect anyone irrespective of nationality, ethnicity, or gender. Alzheimer is becoming more rampant owing partly to the fact that the baby boomer generation is fast ageing coupled with higher life expectancy. According to researches, the risk of contracting by Alzheimer disease stands at 10-12%. However, this risk doubles by a history of the disease in a family such as a 1st degree relative with the disorder. In spite of its limited usefulness, patients report their growing concerns over their high risks of developing these disorders and, in some cases, ask for testing (Goldman, et al., 2011)

Health and Prevention

Few things can be more frightening than the thought that people stand the risk of developing Alzheimer's disease, as they get older, especially when they have had a first-hand experience of what the disease can do to its victim from the experience of a family member.

All over the world, researchers, are trying to find a lasting cure for this disease, but with the ever-increasing prevalence of the disease, researchers have been forced to shift their attention from cure to developing strategies for both the prevention and treatment of the disease. According to their discoveries, the symptoms of Alzheimer and all other mental conditions can be delayed by combining a number of healthy living habits. Your chances of sustaining the health of your brain can be maximized by putting your personal risk factors under control and taking adequate steps to ensure your cognitive abilities are preserved.

Some techniques that can help reduce the risk of Alzheimer and improve health include;

• Adequate Social engagement

• Engaging in regular exercises

• Mental stimulation

• Insisting on healthy diet

• Effective Stress management

• Getting quality sleep

Screening

Memory tests designed for detecting Alzheimer's and dementia aim to identify early signs of memory loss, cognitive impairment, or difficulty with thinking and judgment. This Alzheimer's and dementia test also referred to as SAGE-Self-Administered Geocognitive Examination is strongly recommended for healthy memory tests. The SAGE testing technique include a written quiz that comprise of 15 questions that help detect Alzheimer's disease early enough.

According to researches, about 80% (4 out of 5) of people with memory loss conditions can be diagnosed using this test. SAGE has been found to be a dependable technique for the evaluation of cognitive ability and healthy memory. Results proving the soundness of the technique were published by the Alzheimer's Disease and Associated Disorder Journal.

Diagnostics

It is not always easy to diagnose Alzheimer's disease because no distinct test for diagnosing the disease exists yet. Due to this, when diagnosing Alzheimer's disease, doctors start by eliminating the suspicion of serious dementia cases by confirming the absence of mental symptoms and signs of dementia or other such severe mental conditions.

Doctors may take the following steps:

• Take note of history by asking questions about daily activities and recurrent symptoms

• Carry out physical tests to check for signs of health issues such as kidney diseases, heart problems, or stroke, and • Carry out examination to ascertain the condition of neurological functions by testing the reflexes, senses, and coordination.

Depending on other issues that doctor feels should be examined, other possible diagnosis are:

• Taking blood and urine samples for tests

• Conducting brain scans using MRI, EEG, and CT

• The symptoms of dementia could sometimes be due to some inherited disorders like the Huntington's disease, so there may be need to carry out genetic tests. For some cases, checking for signs of anxiety, stress or depression may also be helpful.

Since no distinct biological test exists for diagnosing Alzheimer's disease, there is need to combine most of the mentioned techniques to rule out the possibility of other dementia before Alzheimer's disease can be confirmed.

Prognostics

Alzheimer's disease can last between one and a half years to fifteen years with its symptoms worsening over time. The condition affects you as the patient, your family, and the caregiver. In order to receive the best care and treatment, work with your family, specialist and GP.

Selecting treatment

No cure has been discovered for Alzheimer's -- there is no way of stopping or reversing the death of the brain cells caused in this condition. However, some therapeutic supports exist to help people with the disease to manage it better.

Some elements listed by the Alzheimer Association for effective dementia care include:

• Managing other health issues that accompany Alzheimer's effectively

• Engaging in programs/activities in adult care homes

• Support services and groups.

Monitoring the effectiveness of the treatment

Alzheimer patients under any therapeutic treatment should be placed under observation no later than 8 weeks after the commencement of the therapy and subsequently every 6 months (Recommendation strength: C, based on professional views and extrapolation from the effectiveness of drug studies).