Biography

RWP was born in Manchester, in the north of England, in the late 1950s, so he is very old. He really liked the north of England, which by 1965 was hip and had three TV channels, and where he went to a coed school. His parents, for reasons best known to themselves, then yanked him away, to Belfast and then Dublin, which had one TV channel that started up at 6 pm with the Angelus (Catholic call to prayer). He also had to go to an all boys school, where he realized he really missed girls. This probably let him focus on schoolwork, though, and at age 19, after he had finished college, he set off for America, where he still resides. He has a bachelors degree in biochemistry and a Ph.D. from Harvard in biophysics, and has lived also in Mainz, Germany, Setauket NY, and Richland WA. He currently divides his time between Nebraska, Rosslyn VA, and Florida.

Friday, January 1, 2016

How, despite the FDA's best efforts, I found out I probably won't get Alzheimer's

Apolipoprotein E (APOE) is a curious protein. It's made in the liver, and transports lipoproteins, fat soluble vitamins like A and D, and cholesterol into the lymph system and thence to the blood. It was implicated in various conditions that cause hypercholesterolemia, but then, surprisingly, was found to be a major predictor of Alzheimer's disease. In brief, people with two copies of the normal APOE gene (APOE-e3) are relatively unlikely to get Alzheimers, but people with one copy of the APOE-e4 variant have somewhere between a 1.5 fold and 3 fold increased risk of the disease, and people with two copies of APOE-e4 have a 20 - 30 fold increased chance. There's also a APOE-e2 variant that actually further reduces one's chances of Alzheimer's. Why, no one knows. APOE-e4 differs from APOE-e3 in a single amino acid (e4(Arg 112 Cys)e3, if you care), and ultimately in a single base-pair difference in the gene, a so called single-nucleotide polymorphism or SNP. While genes undoubtedly have a substantial influence on whether we develop a whole host of diseases, APOE-e4 is, so far, unique, in that a single base switch causes such a huge effect. There are, of course, all sorts of other mutations that cause particular genetic diseases, but APOE-e4 is by far and away the commonest.

About 6 months ago, I received an email from a close relative, telling me they had done a 23andme analysis, in the UK, and found they had a single copy of e4. I was able to reassure my relative that a single copy of e4 isn't that dangerous, and that one could easily reduce the chances of Alzheimer's back to average with some lifestyle changes. So it's useful information to have. I was however worried; both my mother and her mother died after prolonged and agonizing (for the family) dementia, and I could conceivably have double-e4. So I decided to get tested. And found out -- nothing.

This is because two years ago the Food and Drug Administration, an agency that is supposed to protect us from noxious foods and drugs, but in practice protects us from access to health information and cheap pharmaceuticals, told 23andme they couldn't give out health information without approval by the agency. So now 23andme will tell you if you carry genes for various rare conditions, but they aren't allowed to tell you if you have APOE-e4. Fortunately, I have a Ph.D. in biophysics, considered doing my Ph.D. with Wally Gilbert, who invented gene sequencing, and have taught courses on molecular phylogenetics. It wasn't hard to look up the chromosomal location of the APOE gene and simply read the sequence. And, after about 20 minutes of tedium, I found out what 23andme were forbidden to tell me; that I have two copies of APOE-e3 and thus have a pretty low risk of Alzheimer's. Good news, no? In fact, a friend then told me I could simply send the raw DNA sequence information to a site called promethease.com, and for $5 they'd deliver a report about a large number of polymorphisms that affect human health, though none as directly as APOE-e3. So I've found out I probably have a somewhat elevated risk of heart disease and cancer (no surprise, given my personal and family history) and a low risk of diabetes. Most of this I evaluated by doing a great deal of reading about the significance of these various SNPs. 23andme could have told me the same things, and saved me a lot of effort.

Morals? First, in the information age, the FDA is standing squarely in the path of progress, yelling 'STOP'. How can it be justified that the government can prevent a person from contracting with a company to find out information about their own genome? Second, it's pointless, because (as we used to say back at the dawn of the 'net) information interprets censorship as damage, and routes around it. A cumbersome bureaucracy like the FDA is simply not nimble enough to prevent small enterprising companies from selling interpretation of genomic information (or for that matter, from selling nootropics). All they can do is be an expensive nuisance.

Burgeoning access to information is likely to be the doom of the Mommy State, but in the interim, more and more people are going to be finding out government is usually not your friend. It's the friend of the companies who want to sell you drugs at 100 times their cost in other countries, and doctors who want to maintain their monopoly on health care.

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