Larry David’s “true ancestrial roots”

here’s a funny video of Larry David’s experience with ancestry testing through the Ancestry by DNA test from DNA Diagnostics Center, as revealed on George Lopez. apparently their test uses 176 Ancestry Informative Markers, or AIMs. which ones these are and why they only test for European, Native American, Sub-Saharan African, and East Asian “BioGeographic Ancestry”, we don’t know without inquiring further. the references they cite are all from 2003 and before too..

Larry David is 63% European, 37% Native American.

“so I fail as a European?”

ain’t that interesting. it does make it seem a bit ridiculous/sensational, but funny indeed. their explanations of how these things work, however, aren’t the clearest thing:

methodology? heh.

from: TBS Lopez Tonight via genomeweb The Daily Scan

also check out: DNA and Race FAQ via AncestrybyDNA

analogies for genetics

i always get excited when i hear exciting analogies about genetics. they make explaining genetics in counseling sessions (or in other settings) so much easier.  yeah, sure, there’s the ones i’m familiar with:

genes are like a recipe
chromosomes are like a library with the books as genes
autosomal recessive is like two lightbulbs in a hallway
dominant is like two wheels on a bike
translocations are like switching caps on pens

(credits to my instructors and classmates)

but hearing new and exciting ones about commonly discussed topics make my stomach flutter, such as the following quote from Kelly Ormond in a recent ACP Internist blog post by Jessica Berthold about “A brave new world of consumer gene tests” (link below):

Unlike conditions such as Huntington’s Disease, which a person will definitely get if she has a simple genetic mutation and lives long enough, complex conditions like heart disease are usually affected by many genes. And some are more important than others, said Kelly Ormond, program director for Stanford University’s Master’s Program in Human Genetics and Genetic Counseling, and a consultant for consumer genetic testing company Navigenics.

“For common medical conditions, I imagine genes as rocks in a glass. Some are really big rocks, and some are really little. And if you get to a certain point, that glass is going to fill up and push you over the threshold for the condition. Maybe you have two big genes that bring you to the threshold; maybe it’s 10 smaller ones,” Ms. Ormond said. “And maybe it also takes environmental impacts on top of those genes to cause you to develop a condition.”

rocks in a glass huh. simple and elegant, something easily visually imaginable, or for those who just like the visual part, easily recreated in a genetic counseling session..

original article:

http://www.acpinternist.org/archives/2009/07/genetic.htm

via:

@genomicslawyer

following 23andme on twitter is depressing..

as a future clinician, tweets like this creep me out:

by @taohansen:
My 23andMe results are in: the worst thing I have to worry about is my 61% chance of Venuos Thromboembolism.

so is that.. a risk for superficial venous thromoboembolism? or risk for a deep venous thromboembolism (DVT)? or even a pulmonary embolism (PE)? of which the latter two are, i’d say, pretty serious…

its especially weird especially when the response by @23andme is:

@taohansen Did you find anything else of interest in addition to the Venous Thromoembolism in your #23andme results?

meh. who am i to judge… lowly genetic counseling student.

in their own words: the real Sequenom story from April 2009

so I finally ran across the Sequenom, Inc. Q1 2009 Earnings Call Transcript from April 29, 2009 via another Google Finance Discussion message.  first and foremost, it looks like the SEC investigation may not be as bad of an omen as i’d initially thought..

We have alerted the SEC and we will keep them apprised of our actions. We have also informed the FDA and will continue to follow any recommendations they may have for us.

but on the other end of things, parts of this discussion between director, president/ceo, and cfo of sequenom with a bunch of analysts.. are rather amusing

Bob Hodgson – BlackRock, Inc.

Maybe I guess as part of your investigation, clearly these people, these four people, one or more of them had some kind of financial incentive to falsify or otherwise quote mishandle the data. The question is what the ties are there and trying to figure out how much money you guys are going to burn. In fact, you may in fact have some liability on this with respect to if there was any patient activities that were based upon the results of these tests.

Harry Stylli

I believe you are speculating. Okay? On both the employee aspect as well as the patients. No data was revealed to patients. For example, we were in a clinical study mode where the patient identity is blinded. The information is not used for that patient. Patients were simply supplying us with a tube or two or three of blood anonymously, okay? Now as to the other points that you are trying to get to, again, I don’t want to reiterate this, but really I believe a lot will come to light once the independent committee concludes its actions and reports.

feelings are hard to figure out in text, but a response like that clearly shows the guy flustered.

but in general, looks like they’re looking for about a 1000 new samples (or were at that point, who knows what’s going on now), and are attempting to validate their trisomy 21 test by looking at more markers, with a commercial test aimed at being released Q4 of this year. hmm… let’s see what data you have in your peer-review submissions first…

the analysts continue to harass and get the truth out…

Jerry Kalmatos – Trifund

Yes. Hi. Thanks for taking the question. My question surrounded similar questions from before. You really didn’t answer them but most of the data, would you used the word “mishandled”. Would you say that “falsified” is too strong a word? Were there mistakes made scientifically on the assay part of it? Or do you think data was falsified on purpose? What exactly do you think happened?

Harry Stylli

I would like to answer those questions, but again, I have got to respect the other committee until it concludes its analysis.

and, as an ending note, before my 400 word limit copyright issue thing expires.. looks like they still have their original goals in mind, which is still, in my mind, ridiculously cool, if it works, and if its more accurate at diagnosis than screening:

Harry Stylli

We are actually very confident about our core technology. And we just believe we have had a little setback here. We always like to leave the door open to interesting ideas. We are interested in developing noninvasive prenatal tests or diagnostics irrespective of the technology type. But I want to reiterate that we are very confident about the potential of our core cell free fetal technology.

sure sure. it may not be truly “diagnostic” in the way medical professionals think diagnostic, but if it exists as an unhappy medium between AFP screening and prenatal diagnostics, its still another medium, another option, and more options aren’t always a bad thing.

shoutout to Seeking Alpha for providing the transcript. link to the original page is up top.

respect to the MoD

i’ve always really respected the work that March of Dimes does and look up to their organization – both in terms of what they provide patients and providers in terms of information and resources, but also the position they hold in promoting ethically conscious decision making to prospective, expecting or new parents. just a few weeks ago, during a branch meeting, i showed a short, 5-min video by MoD that’s meant to introduce parents to newborn screening for a materials evaluation. needless to say, everyone had great things to say about the video and the many different places in which this simple video could be used effectively.

however, what’s more exciting is recent news of the MOD warning consumers about the risks of DTC Genetic testing and they’ve recently put up a new page on their website:  At-Home Genetic Tests: What You Should Know. absolutely a breath of fresh air coming from those wonderful people over in New York:

When it comes to your health and your baby’s health, your health care provider is the best person to help you decide what genetic test, if any, is right for you and your baby.

not to be rude or anything, but damn right! honestly, i am so pleased to finally see such a large and respected organization put the facts out there, in as simple a way as possible, in a manner that is beneficial for consumers/parents/patients, non-genetics professionals, and even genetics professionals who may be less familiar with the DTC trends going on currently.

a news desk article on their website continues:

Women are particularly vulnerable during pregnancy to sales pitches that play on a new mom’s fear and guilt.  Companies that offer the tests say they can predict a baby’s future height or athletic ability, or can assess the future risk of cancer, diabetes, Parkinson disease, or obesity.  The March of Dimes believes consumers should be very cautious before spending the money — and risking their privacy — on such tests.

once again, just making the same warning everyone else has been, but it’s nice hearing it from march of dimes. oooh i really do heart them. and their nifty booklets/paphlets/cheat-sheets they put out for providers that have all newborn or carrier screening info you’d ever want.

read more about it:

http://news.prnewswire.com/ViewContent.aspx?ACCT=109&STORY=/www/story/07-08-2009/0005056605&EDATE=

via

http://www.genomeweb.com/blog/blasting-dtc-genetic-dx-shops-march-dimes-statement-may-drive-more-people-use-cl