I recently read an article by Gregory Wilcox and Rachel Koff, which was published in the fall 2015 edition of the Journal for the National Academy of Elder Law Attorneys, that explores the use of genetic testing and counselling within the context of elder law.
The article describes the three uses of genetic testing as disease diagnosis, determining carrier status, and predictive testing. Historically, genetic counsellors were required to rely upon basic Mendelian genetics that did not often reveal whether someone would eventually suffer from a certain delayed-onset disease. Because of recent developments, however, science now allows accuracy in determining whether a person will suffer (or be more likely to suffer) from a variety of medical conditions. For example, the development of breast and ovarian cancer has been linked to the BRCA1 gene mutation, which can be tested for and discovered in time for adjuvant medical intervention.
Genetic testing is now capable of revealing whether a person may be especially susceptible to conditions that are often associated with aging, including Alzheimer’s disease, Parkinson’s disease, diabetes, and cancer. However, to date, there is limited data confirming that individuals who are determined to be at a higher risk of developing a disease like Alzheimer’s actually do receive an eventual diagnosis at higher rates than the general population. As a result of learning that one is at a higher-than-average risk of developing such a condition, lifestyle changes may be made in an effort to reduce the chances that an increased genetic risk is eventually expressed through the onset of the disease.
Perceived risk of developing a disease that may compromise mental capacity or shorten life expectancy may serve as motivation to obtain assistance in creating comprehensive incapacity and estate plans at an earlier life stage than these considerations might otherwise be made. As the year ends, no matter current health status or perceived risk of developing certain diseases in the future, it is important to take the time to ensure that incapacity and estate plans are put into place and to keep those plans updated following any material change in family situation.
Happy New Year!
In the grey zone between benign forgetfulness associated with normal, healthy aging and the memory loss associated with Alzheimer’s Disease (AD), lies an intermediary condition known as mild cognitive impairment, or MCI. A person with MCI will experience greater memory problems than would be expected for his or her age and education, but would not suffer from the pronounced personality changes or cognitive problems (e.g. in the domains of learning, reasoning, decision-making) that characterize Alzheimer’s Disease, and would have ‘no significant daily functional disability’. According to Baycrest, individuals diagnosed with MCI have a 50% risk of developing AD within 5 years.
Since the introduction of the term MCI, two key questions have arisen:
i) How should MCI be diagnosed?
ii) Can we predict which individuals with MCI will go on to develop AD?
The mechanisms by which MCI is diagnosed vary widely. Some physicians use the same diagnostic tests as those for diagnosing dementia; i.e. history-taking, physical examination, brief cognitive testing and possibly lab tests to rule out other reversible causes of memory loss. These tests are sometimes supplemented with imaging tools such as PET scans, CT scans and the MRI. In terms of cognitive screening tools, the Mini-Mental Status Examination has been shown to have low sensitivity to detect MCI while in contrast, the Montreal Cognitive Assessment has high sensitivity to detect MCI.
Risk of Progression
Research has demonstrated that there are measurable changes in people suffering from Alzheimer’s Disease many years before symptoms appear. Recent strides have been made in testing for these early changes, which include loss of brain volume and a reduction of a protein called amyloid in the cerebrospinal fluid.
It is estimated that 8% of Canadians over the age of 65 have dementia.
Jennifer Hartman, guest blogger
At present, there is no single diagnostic test for Alzheimer’s disease. Instead, the diagnosis is reached when the medical practitioner (e.g. psychiatrist, general practitioner, geriatrician, or neurologist) has eliminated all other possible causes of the symptoms being experienced; an overview of these symptoms is provided in a previous Hull & Hull LLP blog of February 17, 2009. As a result, the diagnosis is generally coined ‘probable Alzheimer’s disease’ and this thin wedge of uncertainty often leads to an inability to accept the diagnosis as well as resistance to care and treatment. An autopsy is currently the only means of confirming the diagnosis of Alzheimer’s disease.
The Associated Press reported last week, however, that the first commercial version of a test designed to detect Alzheimer’s disease in its early stages could be available in as few as 12 to 18 months. According to Dr. Daniel Alkon, scientific director of the Blanchette Rockefeller Neurosciences Institute (the Institute has teamed with Inverness Medical Innovations Inc. for this endeavour), the test works by detecting abnormal function of a protein that is known to be involved in memory storage.
Early diagnosis will have a multitude of benefits: incorrect diagnosis of the disease based primarily on a patient’s behaviour can be greatly reduced, lifestyle changes can be made which may slow the progression of the disease, the patient and their family may gain valuable time to plan for the future, and those with a family history of Alzheimer’s disease will have tangible information with which to move forward.
Jennifer Hartman, Guest Blogger