This audio clip is from AMA #15: Real-world case studies, originally released on August 17, 2020.
Family history—Questions to ask and what to look for [5:30]
Is 23andMe data comparable to family history data?
- “Actually, that pretty much tells me nothing . . . this stuff doesn’t mean Jack compared to your family history.”
- With the 23andME data, you CAN look at things like
- i) TOMM40 gene to assess risk of Alzheimer’s disease, and/or
- ii) FOXO3 — a gene associated with longevity
- But the genes Peter thinks are important are things that they measure on their own (e.g., MTHFR, APOE, etc.)
Family history data
- Peter gives new patients a large form prior to their first visit
- He wants to know everything knowable about mother, father, both sets of grandparents, aunts and uncles, and siblings
- Cardiovascular disease, for example—does anybody have a history of cardiovascular disease? Did they take any medication for blood pressure, cholesterol? Did they ever have a stroke, chest pain, heart attack?
- Same questions around dementia, cancer, metabolic disease/diabetes
- Next, they prod the answers to those questions to understand context:
- You may see a family history full of cancer, but then find out that they all smoked three packs a day
- The patient may have a relative die of a heart attack at 50—Is this a case of LP(a)? Was this person an alcoholic and heavy smoker?
Looking for patterns
- The more time you spend gathering data, the more likely you’ll understand what’s really at the root of the genetic template that you inherited
- You’re looking for patterns—signature of cancer, dementia, cardiovascular disease
- Example —
- About 1 in 10 people show up with an elevated Lp(a), but the number by itself doesn’t tell you how bad of a problem it is
- We know Lp(a) is bad, but is this a big problem or just a medium problem?
- For the patients who have family members with a lot of sub 60 year old cardiovascular events AND elevated Lp(a) — you need to be acting on that in the most aggressive manner
- But maybe you can afford to be less aggressive in the case where families have high Lp(a) but nobody’s having any events until their 80s
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