APOE4 Testing: To Know or Not to Know Alzheimer's Risk

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Alzheimer’s disease researchers recently suggested that genetics alone could identify in advance up to 20% of the people who are ultimately diagnosed with the devastating form of dementia.

That’s the question many researchers and doctors are facing after a group of Alzheimer’s disease researchers recently suggested that genetics alone could identify in advance up to 20% of the people who are ultimately diagnosed with the devastating form of“The real question is – and the risk is – if you identify people at that stage, what are you going to do about it, because we don’t fully know the spectrum of courses that will unfold over time,” said geriatric psychiatrist Marc E.

In all, the researchers found a consistent and progressive story told by biomarkers and brain changes revealed through brain imaging and through lab tests of body fluids. All of the disease progression markers typically occurred 7 to 10 years earlier for APOE4 homozygotes, compared to people with other APOE variants. The consistencies in the data prompted the researchers to suggest that carrying two copies of APOE4 is “deterministic” of developing AD, and not merely predictive.

Erin Coffman, MS, a clinical genetic counselor at the University of Texas Southwestern’s medical genetics clinic in Dallas, agreed that the study’s limitations are important. She doesn’t expect the paper to change how she counsels patients. She would not be surprised, though, if more people start asking her about APOE testing.

She may place a referral to a neurologist if a person has concerns, or they may simply discuss ways to reduce overall risk of having Alzheimer’s.

 

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