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So I got my genome scanned by Navigenics for a story I wrote for the LA Times. It went up yesterday. The scariest thing I found was that I carry one copy of the APOE4, the allele of the gene associated with an increased risk of late onset Alzheimer’s disease. People with one copy are 3-4 times more likely to get AD. Those with two copies are 15 times more likely to develop it - and earlier in life.
APOE - or apolipoprotein E - is a normal compound that transports cholesterol around the blood and seems also to be responsible for depositing plaques in the brains of AD patients. Fun.
My grandmother AD it, so it’s not exactly shocking that I carry the risk factor. What’s left to be determined is whether there is anything we can do about it. AD is linked to high blood pressure, cholesterol, high fat diet, diabetes, head injuries, lack of exercise, low education level and mental activity (the use it or lose it angle).
So here’s the extra funny part. I also have two copies of the “risk” allele for the fat gene FTO - discovered last April by a team of UK researchers as they were exploring massive cohorts of diabetics. FTO is widely lauded as the first widespread fat gene - all the other ones were random freaky mutation that only appeared in a couple of people. 16% of people in the research cohorts had two copies of the fat gene, weighing an average of 3 kilos more with a 67% increased risk of being obese. The effects were seen starting from just seven years old (ironically, when I started to pudge out. It’s hilarious to be able to see yourself so directly in research studies).
To sum up: I have an increased risk of Alzheimer’s disease (normal for women is about 17% lifetime risk - mine is 29%) and two copies of a gene that make it harder for me to avoid the AD risk factors - obesity, diabetes etc. Fun! So fun! Thanks Mom and Dad!
That’s my news. I have to go not eat now.

I was at a talk recently given by Dr. Craig Venter, who was instrumental in mapping the human genome. He mentioned something that was very true and need to be kept in mind while deciding to see whats good or bad about your genes. We need to weigh the genes for their risk or for their benefit and not simply conclude that you will have for eg. AD in your case no matter what as you have the allele. Perhaps you have a gene determining fast metabolism that could help you with burning all the fat, perhaps eliminate risks. Perhaps another one for longevity of life and much more. Genes are life, and the very existence is for a purpose. There is nothing to lose hope about, change is possible through lifestyle modification, though its not erasable.
Cheers!

Anna, you might find this episode of cbc’s ideas interesting: http://www.cbc.ca/ideas/features/science/index.html#episode15
Would love to know what you think of it… cheers.

Thanks, Zoss. Just listened to a big chunk of the broadcast - it’s totally great. And very long..how did this originally air on the CBC? As one segment?
Anyway. Listening to the genetic counselor was really interesting - her thoughts echoed a lot of the sentiments I heard. At the end of the day they really show how hard it is to interpret genetic risk profiles, especially as we move from single gene, determinstic disease - Huntington’s etc - to more complex disease - cancer and heart disease - that involve many genes and massive lifestyle factors.
It seems many people are left with a feeling of “what to do...???”
Deciding whether or not to keep a baby based on genetic risk profiles is, of course, the extreme end of the actionability spectrum. You have to decide to keep or not to keep, rather than cut back on smoking, eating better...get tested for breast and colon cancer.

Did they also give you a nice long list of all the risk factor genes that you don’t have?

Sort of. I am below average risk for a bunch of things - heart attack, MS, two kinds of arthritis, lupus, some other stuff. And then just about the population average for colon and breast cancer. So yeah.
Good news, Anna! There’s a practitioner in the Bay area who took interest in the Apo E gene back in the 1990s and by studying the prolific research and working with her own patients, discovered a diet for each of the Apo E alleles. Her patients have had some radical changes in cholesterol and symptoms of chronic disease. Her name is Pamela McDonald, RNFA, FNP and her book is The Apo E Gene Diet: A Breakthrough in Changing Cholesterol, Weight, Herat and Alzheimer Disease using hte Body’s Own Genes. Plus, being an integrated nurse practitioner and a grad of Dr. Andrew Weil’s Program in Integrative Medicine, she takes a mind-body approach to health and to the Apo E gene. SHe’s the only one that I know of who is standing up and saying, hey, if your mom and dad gave you these genes, this what you can do about it. Cool stuff.