Yesterday was National DNA Day. In addition, 23andMe decided to hold a massive sale on their “complete” scan for $99.
That in and of itself is not so exciting to me. What is, however, is the ensuing commentary that I found on SlickDeals. It is rare you see such a massive discussion with hundreds of contributors from the general public commenting about the risks/benefits/limitations of 23andMe in such a public forum.
Of course there’s the general trolling “I got my results back last week, I’m half German shepherd! Thanks, 23andme!”, and the people who are just excited by the price “OMG! This is a really hot hot deal!”.
But then you get some deep discussion about the value of the information, such as this snippet from poster travfar:
“The poster’s comment was that a false positive/negative would make someone worry about something needlessly for the rest of their lives. Telling people that smoking will give them lung cancer is the same thing. The message that goes out is that if you smoke, you’ll get lung cancer. But the reality is that if you smoke, there’s an 80% chance you won’t get lung cancer. Life causes lung cancer. It happens to nonsmokers as well.”
Go take a look, mine through the pages. This would contribute amazingly to someone interested in looking at public perceptions of DTC, in a format that is free from study bias.
Gizmodo has some interesting commentary too!
given that i get a few hits every week or so from individuals searching for “male genetic counselors” or something or other, i thought it’d be an appropriate time to speak a bit more about how i’ve gone about getting where i am in my understanding of men in the genetic counseling field. i’ve had a few posts in the past that have addressed some of the important issues, but how did i go about absolving the myth that male genetic counselors are inept at the counseling side of GC? with experience of course!
those experiences started with my first year in my program. UofM allows its students to elect a summer rotation of their choice. my first thought that I ended up sticking with was finding a location, a clinical rotation, where I’d be able to work with a male genetic counselor and get some experience seeing how he would work. given that ann arbor didn’t have any genetic counselor men locally, i started with speaking to my directors and seeing who they knew, or who had been an alum of the program (UofM hasn’t had a guy since the early 90s…).
another step I took was to look at who was credentialed, holding the CGC desgination. these people were more likely to be practicing, vs. working in a non-clinical job (so i thought). i browsed through all the pages of ABGC diplomates, and then google’d any male-gendered names i saw to see where they worked, if it was clinical, if it was in a location in the country i wanted to travel to, etc. yes, i browsed through all 2500+ names looking and discerning for male-gendered first names. quite a task 😛
i ended up deciding on two locations that had a cancer focus, since i also had a particular interest in pursuing a fun, interesting, and involved cancer GC rotation. sent a few emails, got back a very welcome response and a second, polite decline (that was primarily due to the medical institution not being very appropriate to students), and i was set!
as the counselor who was my student liason first impressed on me (in our very first email exchange), it’s important to know that you can learn a whole lot from the counselors who are women that work there as well… and that basically sums it all up. it’s nice to work with another genetic counselor who’s a man, but when it comes down to learning the skills of GC, whoever it is that’s a good counselor will teach you tons and tons. some of my best counseling and career advice have come from those individuals at that rotation, so I absolutely lucked out (and made some great friends & professional relationships in the process!)
anyway, that’s been my experience. going to NSGC AEC is also an awesome way to scope out who’s a guy (it’s way easy, believe me, although i’m sure you don’t need to be convinced). there might even be guys that will address the topic too! (prominent example being Jeff Kopesky’s graduate research study and presentation at this year’s AEC on undergrad guys/girls in upper-level biology courses and their interest/knowledge of the genetic counseling field!)
not to mention, a lot of the training programs have at least a token guy (if not more!) maybe that’s a good place to start too. obviously, the bigger the program, or the bigger the city, the more likely there is to be a genetic counselor dude around, but, alas. hopefully this is can help someone out there.
I’m leaving today to attend the NIH State-of-the-Science Conference coming up next week. There’s an amazing list of speakers on the agenda (Guttmacher, Khoury, Acheson, Rubinstein, Sharon Terry, Colleen McBride) and in all their short speaking sessions, it’ll be interesting hearing the import of family history in primary care settings.
This’ll be an awesome experience seeing how to best expand and come to consensus on one of the best medical, clinical, genetic, public health tool, really across all disciplines, to assess extent of genetic disease and inheritance. I’m sure many other important people will also be attending.
I’ll be taking notes and reporting back to my program for journal club. Should be exciting, plus I’ll get to see one of my old classmates who’s moved on toward real-life! Let’s hope they have internet so I can update as I go along!
Find more info at:
Supposedly the NSGC president, Steve Keiles, will be live-twittering during the event. Check it out:
Mr. Gene Sherpa has a few things to sy about this too:
Phew, okay, so after a day and a half of nonstop talks and discussions, sounds like there’s a whole lot of ways to look at family history in general practice settings, a whole lot of research that still needs to be done, and not a lot of research that has been done to effectively analyze the procedures, processes, and outcomes of the family history as a tool.
A few key remarks (among my 40 pages of typed notes..) that I thought stood out from the wonderful array of speakers included:
Per Dr. Maren Scheuner:
The Red Flags of Family History include:
- early age at onset
- multifocal disease or severe phenotypes
- 2+ closely related and affected family members
- 2+ generations with affected family members,
- disease in the less often affected sex (in the case of heart disease or breast ca.)
- and patterns suggestive of a known mendelian disorder
These are great and all, but they look awfully similar to the red flags that I talk about in genetic counseling when.. oh, right, evaluating a family history!
There was the idea of stratification of risk into multiple categories of Weak, Moderate, and Strong, that Dr. Scheuner brought up, and then many other speakers touched on. Finding algorithms for determining process outcomes based on each of these family history risk stratification levels seemed a key component of moving family history data into standardized care.
Dr. Paula Yoon made the important point that family history of common conditions, as a tool, performs well for populations, but poorly for the individual. This is, again, not too surprising given the risks we see aren’t quite as black-and-white as we expect, and, to bring it to a counseling standpoint, having disease and not having disease can sometimes be interpreted as very black-and-white to clients, patients.
Dr. Louise Acheson pointed out that good prevention, good surveillance, will over a short period of a few generations, render the family history potentially useless. While it may seem great that families may eventually no longer have manifest disease due to great prevention efforts, the multifactorial elements underlying disease will still be present (especially the genetic components) in future individuals and there’s a need to include biomarkers and disease precursors in the evaluation of family history as these assessments move forward.
Dr. Wendy Rubinstein, on a very very peripheral note, brought up her analysis of the CDC’s Family Healthware experience of using a family history screening tool, and emphasized the need to avoid the word “genetic” in communicating with consumers. I guess subconsciously I’d thought about this and the mental associations/implications with words that we as GCs think are simple, that can occur with any given word. Perhaps this is especially important when trying to create tools that will be applicable and can be related to mixed population groups as a whole.
Dr. Ted Adams talked a bit about the Utah State experience (that’s gone on for decades!) of using high school…. my lunch is here 🙂 more later!
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?