Tag Archives: DTC

A SCIENCE WRITER USES HER CHILD’S 23ANDME TESTING EXPERIENCE AS A HOOK, AND CATCHES MORE THAN SHE BARGAINED FOR

Once, when out fishing for flounder, my mother caught a shark.

That story arose in my mind yesterday, as I was reading an article published in FastCompany by a science writer working under a pseudonym.  The writer (who calls herself Elizabeth, so let’s go with that) has a five-year-old daughter adopted from Ethiopia.  Her editor suggests that she do a piece 23andMe from the point of view of a mother considering testing her own little girl.  As for the decision about whether or not to test – that was up to her.

But it’s a better story if you do the test, right?  An even better story if you find out something interesting.  Which is not so likely, since the experts you contact are telling you that most of what 23andMe has to offer is not clinically significant.  A few things that are meaningful, a few things you might not want to know… but Anne Wojcicki, founder of 23andMe, says it is a parent’s duty to arm herself with her child’s genetic blueprint.  Ultimately, Elizabeth says, she finds the ‘knowledge is power’ argument persuasive.

So, anyway the kid turns out to be a ApoE 4 homozygote.  23andMe quotes a 55% chance of ApoE 4 homozygotes being diagnosed with Alzheimers between the ages of 65 and 79.

I spoke with Elizabeth while she was writing the article, but before the test results came back.  “Do you judge me for having my daughter tested,” she asked?  I said no at the time – and for the record, I stick with that.  We were talking then about privacy and confidentiality issues, and in that context I have concerns about the DTC industry in general and 23andMe in particular, but I can completely understand the desire of a mother raising her child without access to any medical or family history to get whatever information she can.  We talked about the limitations of SNP data on common disease.  This wasn’t a genetic counseling session, but I am a genetic counselor, and I am extremely regretful that I didn’t think to discuss ApoE, and perhaps urge her not to unlock that box.

Elizabeth spends the last third of the article grappling with the downstream issues that follow from that significant result.  She acknowledges difficult decisions they will face around when and if to tell the child.  “Never!” suggests a psychologist friend of mine with whom I share this story.  But in my experience information finds it’s way out, no matter how deeply buried, as if knowledge were a seed searching for the sun.  And in this case it is only shallowly interred – after all, she has shared her story in print.  The pseudonym makes it more private, but won’t the ruse – and the reason — be an open secret among her close friends and family?

Interesting to me that 23andMe publicized this story, tweeting about it yesterday morning:

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I would have thought this particular personal journey represented something of a worst-case scenario for them.  Judging by reactions among my friends (not very scientific, I know) it was not a great advertisement for their product.  But then, I do them a disservice to suggest that they are simply marketers.  No question, the folks at 23andMe are true believers.  Emily Drabant, a neuroscientist at 23andMe, tells Elizabeth that their database will help pharma locate people with her daughter’s geneotype who don’t get sick, so they can uncover the reasons why some people stay healthy despite their genetic predisposition.

Wherever you stand on DTC, it is easy to see Elizabeth’s story as a parable.  For enthusiasts like Wojcicki, it is a tale about embracing the power of information as a call to action and an opportunity for intervention.  For haters, it is a harbinger of exactly the type of harm they picture when they think about DTC: inappropriate testing of minors, lack of pre-test counseling (that one makes my stomach hurt), post-test distress.   For me, having planted my standard awkwardly in the muddy soil of ambivalence, I see it as further evidence that DTC is a decent option only for a select few, and should not be mistaken for a new world order.

Here is the model set forth in this article: mother tests child, discovers disturbing information, goes on a mission to find out what it means and – hopefully – how to use what she has learned to her kid’s advantage.  This makes for a lovely read (it’s actually a very good article: balanced, well-written, funny at times).  But it’s important to note that to the extent something good comes out of this, it is because Elizabeth has access to resources and information beyond the factually accurate but necessarily limited and impersonal explanation on the 23andMe website.  “Our daughter is going to get Alzheimers,” she wails to her husband, after ‘blundering past the notes of caution’ to unlock her results.  Next steps for a science writer doing a feature on 23andMe?  First, a personal conversation with Anne Wojcicki, who cancels her next appointment when she hears about the ApoE finding.  Discussions with Drabant, the neuroscientist.  Discussions with geneticist Ricki Lewis, and with Bob Green up at Harvard, who spearheaded the REVEAL study that investigated the impact of receiving ApoE results on individuals and family members.  A conversation with Jennifer Wagner, a lawyer specializing in issues related to genetics and genetic discrimination.  We cannot hypothesize that this is the experience of the average consumer.  Wojcicki and the legion of science bloggers who can’t understand why everyone doesn’t want to test their children should consider the likely experience of a parent receiving this result with no more resources than Google and a distant memory of high school biology.

Ultimately, we are informed, Elizabeth comes to terms with the good and bad of genetic testing for her child.  “I choose to think of this as a potentially beautiful new world opening up for her–but one that requires an extraordinarily thoughtful bravery from all of us.”  Even so, she notes that the “best advice” she got was to “burn that damn report and never think of it again.”  Despite the positive rhetoric, her enthusiasm for that advice suggests she learned something she would in retrospect choose not to know.  Elizabeth went fishing for flounder, and caught a shark.  At least my mother could throw her fish back.

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23andMe Reveals a Snippet of it’s own DNA

You have got to feel sorry for 23andMe.

Ha!  What a funny thing for me to say.  Genetic counselors don’t feel sorry for 23andMe.  After all, they offer a service of which many of us are deeply distrustful, suspecting that for all the data they provide, all the fact-filled blurbs and fancy graphics, their outpouring of information often serves to obscure rather than to illuminate the more significant truth: that most of the time, these reports are not a valid or reliable source on which to base decisions about your health and well-being.  That their message promotes a kind of mantra of genetic determinism that complicates our job, since it creates expectations that cannot be fulfilled.  That their credibility and media presence have less to do with scientific bona fides than an intimate relationship between their founder Anne Wojcicki and Google’s Sergei Brin, which gives 23andMe access to both some very deep pockets and the reflected glory of an association with the epitome of technological wizardry.

And now they are doing research, and they don’t even have to bother with an IRB.  It’s so unfair.

But really, you should feel sorry for 23andMe.  I’m serious.

It’s not easy being them.  Think about it this way: the entire premise of the 23andMe sales pitch is that they can offer you valuable information.  Valuable how?  Well, presumably because it will SAVE YOUR LIFE, or something to that effect.  “Personalize your healthcare,” they say on the website.  “Prepare for serious diseases.”  However, at the same time, 23andMe can not say that any of this valuable information is diagnostic.  They have to be careful not even to imply that it is diagnostic, because offering diagnostic information constitutes a medical test, and medical tests are subject to a much more rigorous degree of government regulation.  If you were a company, would you care to invite a greater degree of scrutiny from the FDA?  No, you would not.

It’s a fine line they walk.  You’d have to be clear-headed and on your game to walk a line like that.  I bet those guys in corporate communications at 23andMe have to stay stone cold sober all the time.  You know that show Mad Men?  The opposite of that.

Now, a tough job gets even tougher.  Last month, 23andMe announced their first-ever patent, awarded for a method of determining an individual’s risk for Parkinson’s disease, a finding drawn from a study of 5,000+ PD patients who were offered the 23andMe genome screen virtually for free – what the company refers to as “the largest Parkinson’s community for genetic research in the world.”  This was a big day for the company, since the patent represents not only a new potential line of revenue but proof in principle for their strategy of crowd-sourced genetic research.  Given their outsider status, 23andMe was probably prepared for a certain level of pushback from the standard-bearers of academic research.  What they may not have expected was that their big day would be marred by an insurrection in the ranks – but to their apparent surprise, the announcement drew outraged responses from many 23andMe research participants. 

It turns out that many in the “Parkinson’s community” felt betrayed by the patent application, perceiving it as an unexpected move to monetize on the part of the company they believed was only interested in a cure – after all, Sergei Brin himself has revealed that he has a genetic risk for PD.  While the press releases from 23andMe emphasize the importance of the patent as not a money-maker but an inducement for other companies to use this information to develop treatments – “the patent will be important for a biotech or pharmaceutical company to pursue drug development” – the majority of the voices making themselves heard seem to find this a dubious distinction.  Admittedly, it defies logic to assume that a commercial entity would file for a patent merely so someone else could (eventually) make a profit, and in fact if we are looking for evidence of capitalistic intent, we can find it conveniently staring out at us from the informed consent that all 23andMe customers are required to sign: If 23andMe develops intellectual property and/or commercializes products or services, directly or indirectly, based on the results of this study, you will not receive any compensation.”

So why did so many research participants feel deceived by a naked expression of commercial intent?  Well, it turns out that, once again, hard cold facts spelled out in black and white, however clearly stated, were less convincing than a fundamentally different message that was never articulated but merely implied, insinuated, forcefully and emotionally conveyed by the fundamental nature of the language used.  “Join us” they said.  “Everyone can help.”  23andMe research is billed as a community effort, “powering research breakthroughs.”  It’s like a research Wiki.   “I had assumed that 23andMe was against patenting genes and felt in total cahoots all along with you guys,” said one research participant. “If I’d known you might go that route with my data, I’m not sure I would have answered any surveys.”

Okay, so as insurrections go, this one is a bit of a tempest in a test tube.  Should we care?  Is it a problem if a small number of people who didn’t read the fine print feel misused?  C’MON PEOPLE.  You haven’t been abused.  You haven’t been robbed.  You did not sacrifice flesh or blood — just a little spit.  But the objections of the 23andMe crowd should be noted by all companies (or researchers) who want to make use of the DNA and altruism of willing donors.  It’s a very fine line you draw for yourself when you unpack those chromosomes: hard to walk, easy to trip over.  If you tell people that the genomic revolution is all about their health, and it turns out to be more about your profits, once-willing participants may be more inclined to spit at you than spit for you.  If 23andMe plans to make data mining an integral part of their revenue stream – and this patent is one pretty clear indication of their intent – then they will have to find a way to convince their target audience that this is a chimera of a company, a capitalist beast with the loving heart of a non-profit enterprise.

 

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FDA Public Meeting on DTC Testing

March 8-9, 2011

As you may know, this week the FDA is hosting a 2-day public meeting about DTC testing, in an effort to develop some guidelines around regulation. It turns out that a handful of dedicated bloggers (namely Dan Vorhaus of Genomics Law Report) are in attendance and are invested in sharing every detail of the proceedings with the online community via Twitter.

Even if you don’t have a twitter account and/or if you tend to avoid this social media tool like the plague, there has never been a better time to test it out and learn how incredibly useful and informative it can be. For a complete play-by-play of what happened today and for real-time updates on tomorrow’s proceedings click on this link and voila!– it will be like you are sitting right there: #FDADTC

Are there any GCs in attendance at this meeting? If so, would love to hear your thoughts. When I have a chance to digest some of this myself I’ll try and share a summary and short post here, but for now you can find a quick  summary the first day on Daniel MacArthur’s blog, Genetic Future.

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Digesting the Scripps DTC Study Results

Last week preliminary data from a Scripps Health study, looking at effects of DTC genomewide testing, were published in the New England Journal of Medicine (link to pdf article). The study represents the first published data of this kind. Up until this point, the dialogue surrounding the potential benefits and harms of DTC testing has been mostly anecdotal guess-work. So, needless to say, these results are important. Media outlets were quick to report that ‘consumers can handle the truth’ and that testing has no impact on health behaviour.   But, beyond snappy headlines, these results warrant a closer look. I thought I’d give a quick run-down of my reaction here, in the hopes of getting a good discussion going.

In full disclosure, I recently joined The Medcan Clinic in Toronto as a genetic counsellor. We offer personal genome testing using the Navigenics platform in the context of a comprehensive genetics assessment (see ‘Putting GC into DTC’ guest post from last year for details on this model.)  As you can imagine, I am particularly interested in these findings.

Some important things regarding study design:

  • Study subjects participated in health assessments (assessing dietary fat intake, exercise behaviour, anxiety symptoms and uptake of screening tests) using an electronic survey tool. No physical exam or blood work was taken into account in assessing baseline or follow-up parameters here.
  • These results represent data from the baseline assessment and a 3-month follow-up. This is a 20-year longitudinal study, so essentially this data is the tip of the iceberg.
  • The study protocol used the Navigenics Health Compass testing, but Navigenics did not provide any financial support for the study, nor were they part of the study design, analysis of data or manuscript preparation.

The most interesting points (as I see it):

  • At 3-month follow-up, there were no significant health behavior changes made by study participants measured by amount of fat intake and exercise behavior, except for in the 26.5% of participants who reported sharing their results with their doctor. These participants did have lower fat intake and increased exercise activity.
  • Those who shared their results with a Navigenics genetic counselor only (10%) did not show any significant behavior change.
  • At 3-month follow-up, there was no significantly increased anxiety or test related distress. Whether or not an individual had genetic counseling did not affect this parameter.

What I take from this:

  • Sharing results with a physician is more likely to impact health behavior. This lends evidence against the direct-to-consumer model.
  • As genetic counselors, maybe we need to be more focused on the potential for us to add value to consumers of genome wide testing, and less focussed on the potential psychological harms of the testing.
  • We all know these tests do not take into account family history. There is a role of GCs to help consumers understand their risks in the context of their family history, to assist consumers in sharing this information with their doctors, and to work with general practitioners to help integrate this information into their practice.

What I can’t wait to see:

  • More long term data! This is predisposition testing combined with 3-month follow-up info. I am curious to see whether more subjects decide to share this information with physicians down the road (presumably many did not have doctor’s visits scheduled in the months immediately following receipt of their results). I’m also curious about whether consumers or physicians will use this information to guide future investigations, when these subjects experience an issue requiring attention.

There are obviously a huge number of issues beyond those I’ve highlighted here. Please share your thoughts and reactions below.

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A DNA Day Surprise

There has been much sturm und drang lately about the ramifications of direct-to-consumer (DTC) genetic testing. Depending upon your point of view, either it’s the end of the world as we know it, or it’s a door opening into the future. These opinions seem to be based on, well, opinion, rather than a careful weighing of evidence – perhaps because there is no evidence.

A recent encounter with a patient who utilized DTC testing has forced me to confront my thoughts on this issue. I am purposely avoiding mentioning the name of the company – the company does not need free advertising, and the specific company does not matter to the issues at hand. I have modified the patient’s name and some personal details to be absolutely sure that anonymity is maintained.

 

Zoe, a bright and articulate 30-something Ashkenazi Jewish woman, called me on the advice of her primary care physician. She had no specific health problems or family history concerns, but likes to keep herself educated about health matters. She maintains a healthy life style and has long been interested in learning as much as possible about her disease risks. She does not have children, but would like to start a family in the near future. She came across the website of a DTC company that happened to be offering a special deal on their genetic screen to celebrate DNA Day. So, she and her sputum took the plunge.

The results were a mish-mash of not-particularly-helpful information such as a slightly higher risk for diabetes, slightly lower risk for cardiovascular disease, wet ear wax, and curly hair (which hung plumb-straight to her shoulders). But she didn’t call me to discuss her ability to smell asparagus metabolite in urine. Instead, right there,  nestled among the results of her Measure of Intelligence and her Longevity, was a deleterious BRCA mutation.

What does this mean, she asked me over the phone? I suggested she make an appointment with me or, if she preferred, she could ask the DNA testing company if they had certified genetic counselors on staff who could work with her. The company offered her a list of genetic counselors in her area, but did not themselves employ genetic counselors.  A few days later, she was in my office.

Creature of habit that I am, I began with a pedigree, but no matter how hard I shook the family tree, the only cancer that fell out was a late onset prostate cancer in a distant relative. Not surprisingly, one side of the family contained very few females. She peppered me with questions about cancer risks, screening, and prevention. She took it all in, duly taking notes and asking appropriate questions. Although the cancer risks were concerning to her, she was reassured by the availability of options to reduce her cancer risks or to improve the chances of detecting breast cancer at an early stage. She was not ready at this stage of her life to make surgical decisions. She had alerted her family to her results, and they planned to have a family meeting after she had met with me to discuss what they would do next. In short, it went pretty much like your average BRCA Positive Informing Session. She was quite satisfied with her dealings with the DTC company, and was planning on encouraging others in her social circle to consider testing as well. I sensed no significant emotional distress beyond what you would ordinarily expect.

The lab is CLIA-approved, and out-source the BRCA Ashkenazi Panel to a well-known lab. Although the patient was concerned that sputum was not as accurate as blood, I assured her that I saw no need to repeat her testing unless she wanted independent confirmation for her own peace of mind. But this would cost her about $600, and since there was no family history of cancer, it would not be covered by her insurance. The DTC lab charged her far less than that, and in her view, she received more information for less money.

For Zoe, DTC testing was a very positive experience. She received valuable information that could very well wind up saving her life. With no family history of cancer, she would not have started breast cancer screening for nearly another decade, and would likely otherwise never have pictured a risk-reducing salpingo-oophorectomy in her future. As an aside, I think it is a forceful example of the potential advantages to offering BRCA screening to all Ashkenazi women (yes, I recognize the possible downsides and intricacies too). It also partially counters the argument that we can tell patients more from pedigrees than we can from DNA tests.

Zoe was the ideal person to utilize DTC testing. She is bright, educated, and eager to improve her health and avoid disease. She had the financial means to pay for testing and counseling (neither of which were covered by her insurer). She is emotionally stable, and the information, while surprising to her, was not particularly upsetting to Zoe or (by her report) her family. While there could certainly be long-term psychosocial issues, my gut sense was that she was not at high risk for serious problems. Of course, one could easily imagine patients who might react very differently in this situation.

My criticisms of the experience are mostly minor. The written information provided by the lab about the implications of BRCA results was fairly minimal. I tried to contact the lab to ask technical questions, but the lab’s website does not offer a readily apparent Contact Us section. It took some digging around to find a general email address, and then it took the lab 2 days to reply to me. If labs and genetic counselors are going to work together, labs need to improve their communication with health professionals. The lab rep insisted that the results were not intended for medical purposes. But, come on, BRCA results can be a matter of life and death. DTC labs need to step up to the plate and clearly acknowledge that at least some of their results have very important implications for medical care beyond telling someone to exercise more, eat less, and hold your nose when you urinate after eating asparagus.

Zoe also learned that she is a carrier for a few potentially serious genetic diseases that could affect her reproductive decisions (which she found helpful). There was also the usual collection of “Self Evident Why Did They Bother Testing For This Stuff” traits like photic sneeze response, odor detection, pain sensitivity, etc. While it is easy to make fun of these, in spirit, the information is not very different than the type of information that couples seek from sperm and egg donors when going through assisted reproduction.

We need to report our experiences with patients like Zoe as case reports and with larger qualitative and quantitative studies. We have much to learn, and it can help inform policy decisions, patient experiences, and professional debates. We should not reject DTC testing outright; there are situations where it in fact it may be quite appropriate. Until we study the phenomenon, we have no right to form extreme opinions about it. Without information, it’s a an argument, not a debate.

Genetic counselors are sensitive to the psychosocial ramifications of genetic disease. But if we insist that everyone who has a genetic test first see a genetic counselor, are  we creating an aura of specialness and mystery about genetics that can be a factor in the development of psychosocial sequelae? Should we be setting aside genetic testing from other medical tests and treating it as SOMETHING VERY SPECIAL? Perhaps for some patients, genetic testing is not such a big deal, but if we insist that it is a big deal, we might be contributing to some of the very psychosocial problems we are looking to minimize.

I would like to hear from other genetic counselors who have worked with patients who have gone through DTC testing – the good, the bad, and the ugly.

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DTC Companies Under Fire

I was originally going to type a post about genetics within the special education field.  Then I ran across this article, Couple sues over failed Down Syndrome diagnosis and was going to write about wrongful birth lawsuits.

However, there has been so much in the news today about DTC gene tests which I couldn’t ignore.  DTC companies have the potential to make a positive impact on the public by improving accessibility to genetic services.  Unfortunately, those services are currently being questioned.

Today, the Subcommittee on Oversight and Investigations held a hearing, “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health).”  For more opening statements and testimonies go here.

What caught my attention was the federal ‘sting’ where undercover investigators either ordered kits or called companies with questions.  Check out the brief video below with snippets of recorded phone conversations between DTC companies and undercover investigators.

The FDA also sent out letters to 14 companies regarding genetic tests they provide.  Click here for a list of those companies and letters.

The U.S. GAO (Government Accountability Office) has released a summary and full report “Direct-To-Consumer Genetic Tests:  Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices.” Go here to read this report.

Thoughts?

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Genetic tests now sold in drugstores! Or not.

as posted on herNaturehisNurture

Well, it has been quite a week in the world of genetic testing! For those who haven’t been following the gene drama (or haven’t been able to keep up), I’ve provided a summary of the week’s events below.

Monday, May 10 Pathway Genomics’ test is considered a ‘device’ by FDA

The FDA Office of In Vitro Diagnostic Device Evaluation and Safety, sends a letter to James Plante, CEO of DTC company Pathway Genomics Corporation, pointing out that Pathway’s “Genetics Health Report” product appears to meet the definition of “device,” and therefore requires an FDA clearance/approval number. They request that their approval number be provided. [Of note, Pathway DTC genomic testing has been available online since July 2009].

Tuesday, May 11 Washington Post runs story about gene tests being sold in drugstores

The Washington post runs the story that personal genomic testing company Pathway Genomics was getting set to offer their genetic testing kits at Walgreen drugstores across the country.

Beginning Friday, shoppers in search of toothpaste, deodorant and laxatives at more than 6,000 drugstores across the nation will be able to pick up something new: a test to scan their genes for a propensity for Alzheimer’s disease, breast cancer, diabetes and other ailments.

The NSGC promptly responds, issuing this Policy Statement (pdf):

“Distributing genetic testing through pharmacies will expose more people to its availability. However, people should first meet with a genetic counselor to determine whether genetic testing is right for them and to prepare for what they might learn,” said Elizabeth Kearney, NSGC’s president.

Daniel Vorhaus of the Genomics Law Report was quick to comment on the news, and published an impressive compilation of media and blogger reactions to the developing story.

Wednesday, May 12 Walgreens revokes decision to sell Pathway’s test in stores

Media outlets continue to follow the story, and FDA officials become increasingly vocal about their lack of support for the retail genetic test kit. Late Wednesday night, news breaks that Walgreens has decided they are revoking their decision to stock the genetic testing kits in stores.

In a statement, Michael Polzin, a Walgreen spokesman said, “in light of the FDA contacting Pathway Genomics about its genetic test kit and anticipated ongoing discussions between the two parties, we’ve elected not to move forward with offering the Pathway product to our customers until we have further clarity on this matter.”

Thursday, May 13 Pathway Genomics and others respond

Pathway Genomics issues a press statement acknowledging the weeks events and the genetic counselling services they provide:

We respect and understand Walgreens’ decision and we are communicating with the FDA about the Pathway Genomics InsightTM collection kit…We believe it is very important that anyone interested in a personal genetic test understand the information that will be contained in his or her report. That is why we have on staff Board certified/eligible physicians and genetic counselors that are available to speak with customers about their reports. We also encourage anyone considering purchasing a Pathway product to speak with our counselors.

Others continue to weigh in on the issue. Notably, Dan Vorhaus helps elucidate some of the complex issues surrounding regulation of direct-to-consumer gene testing and points out that personal genome tests are already available through retail outlets, such as 23andMe tests being sold through Amazon.com. The NSGC public policy blog provides a good summary of the issue from a genetic counselor perspective.

Friday, May 14

So here we are, Friday morning, the day that Pathway’s tests were scheduled to hit drugstore shelves. But instead of curious consumers flocking (or not flocking) to their local Walgreens, we are instead right back in the middle of a DTC regulation debate. A debate that seems to me to be incredibly reminiscent of June 2008, when the California department of Public Health issued “cease and desist” orders against 13 DTC companies. I look forward to watching how this plays out.

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Beyond the actual events of this week, what has been so incredible to me is the quick response and coverage of this story within the genetic counseling community. Because I don’t work in a position where I can monitor twitter, I have relied heavily on the NSGC listserv this week in keeping up on the breaking news. So a big thank you to all those who kept the community up-to-date using this private forum. And I’m impressed with the speed at which the NSGC position statement and public policy blog post were put together. If this same situation had occurred a year ago, I highly doubt the public response from the GC community would not have been so urgent or visible.

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