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..
as a future clinician, tweets like this creep me out:
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:
meh. who am i to judge… lowly genetic counseling student.
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.
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?
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:
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.
so i’ve been judiciously ignoring the “spam” comments i get. turns out over half of them are legit, so if it looks like i haven’t been approving your comments, it’s not because i have a deep-seeded grduge on you from a past life.. it’s cause wordpress thinks it’s spam. no harsh feelings, right?
more trouble seems to be brewing. bubbling. well, more like simmering… in the Sequenom part of the DTC world.
a reported 80% drop in the Sequenom stock over the past half year, sucks for them, most of which happened back in April i’m assuming. such an unfortunate loss of momentum, and the most recent inquiries into Sequenom…
Sequenom disclosed in a filing with the US Securities and Exchange Commission Tuesday that the SEC is investigating the firm over its announcement in late April regarding the mishandling of R&D test data and results for its SEQureDx Down syndrome test.
they say this is to be expected. i, on the other hand, know little abotu the SEC. but as i guess is appropriate, this reflected another drop in shares. starting the 2nd half of 2009 with the same bang as the first half eh?
they state their willingness to cooperate… of course you’re going to cooperate. what if you didn’t? well, where would your credibility be?
The filing does not detail the SEC’s concerns, but Sequenom said that it intends to “cooperate fully with the SEC in this matter.” It added, “Our internal investigation is ongoing.”
so no news of what’s happening to SequreDX. ongoing internal invetigations. i’d hope they’re trying to figure things out given this and their recent shareholder class-action lawsuits..
come on Sequenom, your noninvasive prenatal diagnostics train had been running so smoothly until 2009 came around. regardless of how accurate or what ethical issues these “diagnostic” tests raised, it was still promising technology that would surely promote refinements and public discussion…
read about it at the following and above links:
so it sounds like while SequreDX is being put on hold, their CF, XY and Rh tests will start being released over the next few months. let’s see if that boosts your self-esteem a bit..
also, sounds like their Grand Rapids, MI labs will be expanding.. and they’ll be submitting (?) some prelim trial results to a peer-reviewed journal. hmm… what’s this all mean.. other than a 10% stock increase just today?
hmm.. now, what I want to know is who is this jjuless person that been spamming google finance’s SQNM page with all this “good” sequenom news…
Sometimes I forget what I like using as references for my work and what I prefer referring to for advice when I’m in a bind, doing health education/communications work, and what I don’t, but here are some resources for those of you who may or may not be in the Health Education field but still need to make materials that you’re hoping someone other than yourself or your superiors will understand. (Correct, that sentence was not meant to be readable).
But what are health communications?
The National Cancer Institute and the Centers for Disease Control and Prevention define Health Communications as:
The study and use of communication strategies to inform and influence individual and community decisions that enhance health.
Read about it, and get some more info about some specific CDC prevention campaigns, as well as a bigger list of resources than I’d ever be able to give you at:
But today I have a few comments about a quick place to start: online are many government-sponsored booklets (they after all, have been doing this stuff for years).
The CDC has an aptly named booklet called Simply Put. Provides very appropriate instructions and examples on how you might write, organize, and modify text to make it more accessible to diverse populations. Includes readability scoring instructions at the end too! The PDF may be 48 pages long, but hey, the majority of them are blank pages and tons of white space (good for readability!)
National Cancer Institute (NCI) has the Pink Book (Making Health Communication Programs Work), which I’d never heard of (although I think it may have been mentioned in my courses and I just didn’t know what it meant, and promptly forgot). It quite literally is a pink book, if you have an older print version. This book has been out for years and years and is certainly one of the standard references of people in this field, but NCI no longer publishes these in print, but the materials are updated and available online and in PDF format as well. All very searchable.
The book walks an individual through the stages of the health communication process: from planning, to developing, to implementation, to assessment – with examples galore and updated methods (internet included!). Solid, solid solid. It’s amazing why this isn’t required reading in our HBHE classes – breaks a lot of the steps down.
One pitfall, however, is that it is a much less theory-oriented than my PH studies – which is perhaps why we didn’t use this. It truly is a manual: step-by-steps that are clear and specific to the particular situation at hand.
That’s all for now… updates as soon as I remember them 😉