Promethease

[Sparrow]

Is there a resource somewhere that will help me make better use of Promethease?

I understand red or green. I am grasping that diseases can involve multiple genes. There are some gene locations that just have the numbers but no commentary or red or green.

Are there parts of my DNA that 23 and me doesn't sequence?

Truth be told, I'm especially curious about narcolepsy. At my worst, I've "blinked out" and found myself in the middle of the street when I didn't remember stepping off the curb. I've had what I can only call "fatigue attacks" where I have the strongest urge to just lie down wherever I am (Safety concerns of being found lying in a parking garage or on the street override the urge but not by much). I have sleep apnea (and faithfully use my CPAP machine) but my sleep doctor prescribed Nuvigil and when that was not very effective, she prescribed Adderall. Adderall has helped a lot but I have my days when I'm just fighting my body to keep my eyes open and stay on my feet.

It's embarrassing, as it's a lack of control and to anyone else, it looks an awful lot like laziness. It's hard to describe to doctors. I'm particularly reluctant because my initial request for a sleep study was met with "You're tired because you're depressed" which I really didn't think was true at the time.

My mother and I also are highly allergic-reactive. She's possibly developed an allergy to her insulin. Her skin is highly reactive and she has frequent rashes for no clear reason. I've got multiple adult-onset food allergies and I had a rash biopsy that was suggestive of an early connective tissues disease, possibly cutaneous lupus. I don't expect answers or diagnoses. I just want to give doctors anything useful and I don't even know how to begin to tell them that I have this information at hand now, let alone find out if there's something they would like to know.

I was looking for info in the Primer document and I searched some forums for Promethease, but it seems like somehow folks are pretty familiar with the tool. Am I missing a resource? Thanks!

[Harrison]

I am sure others will weigh in, but I wanted to give some general suggestions.

First of all, 23andme is only giving you a partial look into your DNA. There have been multiple versions of the chip that 23andMe uses, and some have more genotypes than others. Beyond that, there is whole exome sequencing, which looks at all regions of the genome that codes for proteins, or even whole genome sequencing which is everything including non-coding regions.

Promethease is only as good as the information that goes into it. There are some 20 year old genetic studies that have never been replicated, yet the data ends up in Promethease as being a notable magnitude. In addition, there is a very interesting article in this thread showing how people with risk factors never developed diseases https://www.apoe4.info/forums/viewtopic.php?f=16&t=4316. If you haven't looked into it, SNPedia.com is basically the catalog of data behind promethease. You can search for things like narcolepsy and it will give you a list of SNPs that are associated. Usually this will show up in promethease, but it will give you the pubmed links to the original scientific papers.

I have never had a direct discussion with a physician about my 23andMe results, but he entertains all the blood tests I suggest based on the results. Other people's mileage will vary from a doctor being entirely dismissive to being fully engaged.

[CarrieS]

I ran my 23andMe report through StrateGene by Dr. Ben Lynch. http://go.strategene.org/genetic-analysis
He gives you a "genetic pathway analysis" that is a little confusing but shows you how the snps work in your different cycles.