They also include frequency of the SNP so it's easy to say, "yes, they're certain there's an increased risk of high cholesterol with this SNP, but 21% of people have it, so I just have to eat healthily" because 21% of the people in the world aren't dropping dead of a heart attack at age 45.
Yes, I find this useful at times - such as when someone gets hysterical about having a non-coding synonymous mutation which is present in 50% of the world's population. But conversely, people can get overly excited about rare genotypes which have no effect at all, or no research indicating anything one way or the other.
I don't mind this so much in the rare SNP program (
http://sourceforge.net/projects/analyzemygenes/ ) because it's pretty obvious that no one has 50-150 SNPs which all mean they're about to drop dead, and because literally everyone has a bunch of rare SNPs. So it some ways it's a good way to ruthlessly expose people to the concept that having rare SNPs is completely normal, and maybe even makes the common-as-dirt SNPs a bit less scary in the process. Maybe
But showing just a few very rare SNPs in a non-rare report might just contribute to the over-excitiment.
My current approach for the report I'm creating is to use color coding and a brief indication of the impact of a mutation. For example, on the CBS gene there are a few SNPs where having the rare version is beneficial. I color those green, instead of the default white for the normal/common version of each SNP. Hence it's not telling 90% of the population with +/+ or +/- that they're somehow at a disadvantage when they're really just normal.
And I'm using red for outright disease-causing mutations, orange for mutations which have a large impact on gene function, and yellow for mild but statistically significant impairment in gene function. And then when there's studies showing the exact impact of a SNP on gene function, there's a little message like "82% reduction in gene function" in addition to the color coding. However, most of the "yellow" SNPs are based on weaker evidence, such as a possible correlation with increased risk of an associated disease.
Also, a homozygous mutation being pathogenic usually does not mean that the heterozygous is doing anything at all. But it does reflect that there could be a compound heterozygous missense mutation, so is still flagged yellow and labeled as a caution to look at that result and see if there's another one that could be teaming up with it to cause problems. Yet it should be clear that the heterozygous mutation is not a problem in its own right and does not require "treatment".
I dunno, you could put a paypal with a donation box there. At least then people who had the money to spare could drop some in there, but it would still be available to the people who didn't.
My fiance and I have discussed it in the past, and both agree that we don't want to ask for donations. People using this sort of utility are usually struggling enough, and those with serious illnesses have enough problems and guilt in their lives without suggesting that they should do the "right thing" and pay up.
