(no subject)

[the_rck]

Damn. I just got my copy of the genetics report for cancer risks. It doesn’t actually tell me if I have the 'likely benign' PALB-2 variant that my sister has because they don’t bother reporting anything that they think is benign. One of the points of this exercise was to find out whether or not I have that specific variant. I could have variants on every gene tested, as long as someone in the US had labeled it benign, and never know.

::sighs:: I’ll see if the genetics counseling people have that information and if I can pry it out of them. I kind of suspect they won’t want to tell me.

Comments

[heavenscalyx]

Ask them for the data instead of the report. If it was full sequencing, they may hand you a hard drive (those files can be upward of 100GB). If it was a SNP analysis, it should be a smallish file. Either way, I know a few tools one can use to look at this stuff.

[heavenscalyx]

Note that either way, you having the data could be valuable to you in the future, given that your family has some problematic genetic variants and you want to avoid having to fight insurance for yet another round of sequencing/analysis.

[the_rck]

My guess is that it will be a smallish file because they were looking at 30 specific genes/gene sequences. The company is CancerNext, and they mention their own method and the Sanger method for the testing.

I will ask for it after Thanksgiving (the rest of this week is nasty, and there's no point requesting anything next week because nobody will be paying attention). I have an appointment there on the 29th, so I can do it in person. I haven't had great luck at having them give me such things even when I go in personally. They promise to send them and then just don't.

[lunabee34]

That is frustrating. :(

[brunettepet.livejournal.com]

Well, drat. Hopefully they'll share the information.

[the_rck]

Someone on DW suggested that I ask for the raw data. I'm entitled to it, and having it means that screening in the future might be possible based on what's in there without having to do additional testing (and fighting with insurance over getting it).

So I'm going to do that. After Thanksgiving.

[desdemonaspace]

I hope it's good news, or at least neutral.

[the_rck]

It's good in as much as I don't have any of the genes that are known to be problems. It's bad in that, given family history, there's pretty likely to be something genetic. It's just that it must be something researchers haven't identified yet.