Talk through your genetic panel results with the clinic's own genetic counselor before your visit, not with a search engine or a relative who read something online. Memory clinics that order familial Alzheimer's testing build a genetic counselor into the process specifically so results are explained in context, not handed over cold. The goal of a pre-visit conversation is narrow: confirm what was actually tested, what the result means for you specifically, and what the clinic needs from you to use that result well. Getting those three things straight before you walk in saves the appointment for the harder questions.
Medical information disclaimer: This article is for general educational purposes only and does not provide medical advice, diagnosis, or treatment. Always consult a physician or other qualified health professional about symptoms, medications, tests, or treatment decisions.
Table of Contents
- Confirm Which Test You Actually Had
- What a Positive Result on the Three-Gene Panel Means
- Why a Genetic Counselor Should Be Part of the Conversation
- What to Bring and Say at Your Pre-Visit Call
- Frequently Asked Questions
Confirm Which Test You Actually Had
"Genetic panel" can mean two very different things, and mixing them up is the most common source of confusion before a memory clinic visit. A three-gene panel covering APP, PSEN1, and PSEN2 looks for mutations that directly cause familial Alzheimer's, an inherited form tied to autosomal dominant disease in the family. APOE genotyping is a separate test that reports a risk variant for the common late-onset form of the disease; carrying an APOE4 variant raises risk but does not cause the disease and does not predict with certainty who will develop it, which is why published genetics guidance does not recommend APOE testing in routine practice, even for people with a family history of late-onset disease.
Before your appointment, find your test report and read the gene names on it. If it names APP, PSEN1, or PSEN2, you had the causative panel. If it names APOE, you had the risk-variant test. Call the clinic and tell them which one, because clinic patient guidance notes that how a result should be discussed depends entirely on which test produced it, and a higher-risk APOE finding is not a diagnosis.
What a Positive Result on the Three-Gene Panel Means
The three genes on the familial panel carry different odds and different weight. PSEN1 mutations account for roughly 20-70% of early-onset familial cases and are fully penetrant, meaning a carrier will almost certainly develop the disease. PSEN2 mutations cause about 5% of cases and are about 95% penetrant. APP mutations cause roughly 10-15% of cases, according to a payer medical policy summarizing the published genetics literature.
Knowing which of the three genes is involved tells you roughly how certain the prediction is, which is worth stating plainly when you describe your result to the clinic. This panel is not meant for the general population. It is reserved for people with a family history suggestive of autosomal dominant disease — commonly multiple relatives diagnosed before age 65 across more than one generation — symptomatic people with an unexplained family history, such as an adoption, or relatives of someone with an already-identified mutation, per the same medical policy. If you're unsure why you were offered this test, that's worth raising directly with the clinic, since it affects how your result should be weighed against your actual family history.
Why a Genetic Counselor Should Be Part of the Conversation
The joint practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors states that genetic testing for PSEN1, PSEN2, and APP should always be accompanied by expert genetic counseling, with informed consent obtained before testing and a follow-up visit after the result is disclosed, according to the 2011 ACMG/NSGC joint guideline. That document was later reclassified as a practice resource rather than a current evidence-based guideline, which lowers its formal evidentiary weight, but it still describes the field's standard approach, as noted in ACMG's 2019 addendum.
If a genetic counselor was not involved when you received your result, say so when you contact the clinic ahead of your visit. The same joint guideline points out that a positive mutation result has implications beyond the person tested — it can affect biological relatives and raise insurance or discrimination concerns, exactly what pre- and post-test counseling under the ACMG/NSGC framework is designed to address. Flagging this gap before your visit gives the clinic a chance to loop in a counselor rather than discovering the gap in the room.
What to Bring and Say at Your Pre-Visit Call
Memory clinics ask patients to arrive prepared, and the same preparation applies to the call you make before the visit. According to intake materials from memory clinics including UBC's Centre for Aging Brain Health, patients should bring prior test results, a written list of current medications and supplements, a specific timeline of memory symptoms with real-life examples, and what is known about relatives' cognitive or health history, per UBC CARD's patient information package. Bring a family member or friend too, both to help relay information during the visit and to help recall what was discussed afterward.
When you call ahead, state plainly: which gene or genes were tested, the result, whether a genetic counselor reviewed it with you, and what you know about affected relatives' ages at onset. At UBC's clinic, a genetic counselor on the care team takes a detailed family history specifically to trace memory or related health concerns through the family, which means your panel result is meant to be discussed within that structured intake rather than interpreted alone beforehand, according to the same UBC CARD materials. Your job before the visit is to hand over clear facts, not conclusions.
- Gene(s) tested: APP, PSEN1, PSEN2, or APOE
- Result: positive, negative, or variant of uncertain significance
- Whether a genetic counselor already reviewed the result with you
- Family history: who was affected, and at what age symptoms started
- Current medications and supplements, written out
Frequently Asked Questions
Does a positive APOE4 result mean I will develop Alzheimer's?
No. APOE4 raises risk for the common late-onset form of the disease but does not cause it and does not predict with certainty who will develop it, so it is not treated as a diagnosis.
Who typically qualifies for the three-gene PSEN1/PSEN2/APP panel?
People with a family history suggestive of autosomal dominant disease, such as multiple relatives diagnosed before age 65 across generations, symptomatic people with an unexplained family history, or relatives of someone with an already-identified mutation.
Should I expect a genetic counselor to be part of my memory clinic visit?
Clinics that order this panel commonly build a genetic counselor into the care team, and standard practice calls for counseling both before testing and after results are disclosed.
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