Tag Archives: 23andme

Good Lord, People, 23andMe is NOT Dead!

Reposting from my personal genomics blog because I think it is important also for the audience of this blog.


23andMe

Good Lord, people, 23andMe is NOT dead! Or closed, or no longer taking orders, or anything like that. I hear this a lot.

“You know, I always wanted to get my genome tested. I was going to try 23andMe, but then the FDA shut them down. Oh, well, missed my chance. [sigh]”

NO! You did NOT miss your chance. Firstly, 23andMe is not closed for business. They still will take your money and your sample. They still will analyze the sample and give you results. From what I’ve been seeing in the results from folk I’ve been helping to look at their data, 23andMe seems to be running the test exactly the same way they always did, for the same SNPs.

They simply are, at this time, not offering their health reports to new customers. It isn’t the data that has changed – it iw what analysis is shared with the customer. Old fogies like me who got their tests done before the FDA folderol” still have access to our old 23andMe health reports, and they continue to improve them.

I have heard nothing to indicate that 23andMe are not working with the FDA to try to make it possible to release health reports again in the future. Issues around that get complicated and I’m going to save them for a later post. Right now, what if you wanted a test for some genetic health information? Can you do it? How long will you have to wait to find out the answers to your health questions?

You can still do it. It isn’t as easy as it was before, but it can be done. I’ve been spending a lot of time talking people through how to do this, and it is time to write it down. If nothing else, it will save me time. This will be the short short version, and I can answer more detailed questions and describe specifics, maybe give an example or two or three.

FIRST, THE DISCLAIMER

Risk is Not Just Genes

Making sense of genetic information is complicated even for experts, which most of us are not. Of course, part of the irony of looking at genetics for health conditions is that most of the time what causes the condition is not just the genetics, but genes PLUS something else. If you don’t find the genes for something, that doesn’t mean you can’t get it; if you do find the genes for something, it doesn’t mean you will get it. It is hardly ever a case of this=that.

What Does Risk Mean, Anyway?

There is also the challenge of figuring out how important the risk is, and whether or not to do something about it. So, my personal risk of celiac disease is over 4 times normal. Wow! That sounds like a lot, doesn’t it? But 4 times normal for celiac risk is still only 1 in 20 people, because normal is about 1 in a hundred. I know someone with celiac risk 17 times normal, which is 1 in 4 people. That’s getting to be pretty serious! But, while celiac is dangerous, it isn’t one of those conditions that is immediately deadly or painful. And my friend still has a 3 in 4 chance of NOT getting celiac, and that is a lifetime risk.

On the other hand, my risk of venous thromboembolism (VTE) is 1.5 times normal. That doesn’t sound like much does it? It’s higher, but only a little bit. So we don’t really need to worry about it, do we? Well, yes. VTE can kill you on the spot, and it is incredibly painful. And normal is 1 in 10 people for lifetime risk. For me, the risk is closer to 1 in 7.

Given that, according to 23andMe, my genetic risk of celiac is roughly 1/20 and my risk of VTE is 1/7, and adding in the comparative dangers of the two diseases, my docs got all excited about the VTE, and not terribly about the celiac. I hope you understand why now, and also a bit more about why genetic risk is complicated.

On Asking for Help

Last part of the disclaimer.

For both of these, celiac and VTE, 23andMe looks at SOME of the genes and SNPs known to be associated with the condition, but not ALL of them. So whatever 23andMe tells me about risk is only part of the picture. It looks at the most important genes, but is still only part of the picture. That’s why you need experts to put all the pieces together, and get more information to fill in the gaps from the 23andMe test.

Everyone always says, “Ask your doctor,” when it comes to finding something puzzling, confusing, contradictory, or worrisome in your genetic tests. I did, and found that most of my doctors didn’t have the expertise to make more out of it than I did. Some poohpoohed the 23andMe results, others made clinical decisions based on them without verifying with other tests, some asked for more medical tests to expand upon what 23andMe had, and one said, “You know more about this than I do, but I’m going to learn.” Here is a quote from an NEJM article a few months ago about the risks and benefits of trusting direct-to-consumer personal genomic services such as 23andMe.

“Clinicians will be central to helping consumer–patients use genomic information to make health decisions. Any regulatory regime must recognize this reality by doing more than simply adding the tagline on most consumer ads for prescription drugs: “Ask your physician.” That is insufficient guidance unless your physician has ready access to a clinical geneticist or genetic counselor.” Annas GJ, Elias S. 23andMe and the FDA. N Engl J Med 2014; 370:985-988. http://www.nejm.org/doi/full/10.1056/NEJMp1316367

Some of the personal genomics service offer phone-in access to genetic counselors. I tried that, and didn’t get helpful answers there, either. Even worse, one of the answers I got was blatantly wrong. It may have been just the genetic counselor who I happened to be talking with, so don’t judge the whole profession by that one person, but do be prepared to keep looking for info if needed. Where I found the most helpful information was in the 23andMe forums, BUT a lot of the info there was unreliable, and I had to sort out what was helpful and what wasn’t.

So, my recommendation is, absolutely DO ask your doctor, ask a genetic counselor if you can, but that might not be enough. You might need to do more research on your own, or find someone you trust to help you with this.

What Good Is It?

So, what good is it then? It gives you clues. Like a detective, you take the clues and look for more information, or ask for more thorough testing, or raise questions that weren’t being asked or addressed before. Some of the clues will be red herrings. Some of them may lead you to a prized solution. For me, these clues ended up dramatically improving my quality of life, and may have even saved my life.


So, now, the short short version. And PLEASE, if someone more expert than me with genomic data reads this and spots any errors, please say so!

PART ONE

1. Get your 23andMe test done.

Pic of the Day - PGenPGEN, Take 2

2. Log in at the 23andMe web site when you are notified that your results are ready.

23andMe

3. Click: Browse raw data.
23andMe: Getting to your raw data

It should look like this:

23andMe: Browse Raw Data

4. Click: Download raw data.
23andMe: Download Raw Data

5. Complete security procedure (log in again, answer security questions, etc.). It should look like this.

23andMe: Downloading Raw Data

6. Answer the question about what type of data and format you want. NOTE: I always choose ALL DNA, unless you have something else specifically in mind.

23andMe: Downloading ALL Your Raw Data Or ...

7. Find the file (which will be named something like genome_Firstname_Lastname_Full_12345678901234.txt)

PART TWO (A): Easier Way

Genetic Genie

Now you have choices. You can dig into the information the easier way, or the less easy way. Let’s start with the easier way.

1. Select a tool to do what you want with your data. There are LOTS of tools people have built to do useful things with 23andMe data files. One of my favorites is Genetic Genie, because it tells you about the MTHFR gene which has become so important in my life. I also am spending a lot of time with Promethease because it is so complete compared to most other 23andMe analysis tools. Lets start with these.

2. Go to the tool of your choice, such as:

Genetic Genie: http://geneticgenie.org/

Promethease: http://www.snpedia.com/index.php/Promethease

3. Follow the directions at the tool, but this almost always requires you to upload your 23andMe data file. Here are more details about doing this with Genetic Genie.

4. Last come what is always the tricky part — making sense of the information you get. That’s worth several posts, but for starters the main point to remember is that the 23andMe test is a place to start, not a final answer. In Genetic Genie, the code, analysis, and text are written by engaged amateurs, not by doctors or genetic counselors. They worked hard, collaborated with a lot of other people, and did a lot of research, but it isn’t going to say the same things your doctor might.

More Tools

23andMe: Tools for Everyone http://www.23andyou.com/3rdparty
NOTE: When 23andMe took out the health reports, they also edited this page to remove links to tools that provide health data from 23andMe data. So, this is interesting and useful, but not sufficient. You’ll have to look somewhere else for most tools.

23++ Chrome Extension: Get more from your data:
http://23pp.david-web.co.uk/getting-more-from-your-data/

Confessions of a Cryokid: Top 10 things to do with your FTDNA raw data (2011) http://cryokidconfessions.blogspot.com/2011/06/top-10-things-to-do-with-your-ftdna-raw.html

Genetic Genealogist: What Else Can I Do With My DNA Results: http://www.thegeneticgenealogist.com/2013/09/22/what-else-can-i-do-with-my-dna-test-results/

International Society of Genetic Genealogy: Autosomal DNA Tools: http://www.isogg.org/wiki/Autosomal_DNA_tools

Resqua: Q: What should I do after generating my Gene variance report? http://resqua.com/100005927200207/what-should-i-do-after-generating-my-gene-variance-report

Think Exponential: Get SNPd! http://thinkexponential.com/2013/01/10/why-you-should-get-snped/

PART TWO (B): Less Easy Way

Linking Disease Associations with Regulatory Information in the Human Genome

Actually, there are a LOT of different “less easy ways.” You can open the raw data file in a text editor and search manually for specific pieces of information. Or, if you code, you can write a little program to do some of the hard work for you.

Basically, it comes down to doing a lot of research, the hard way, by hand. But, believe it or not, I am doing it. I’ve had a lot of help from people who offered tips or comments in the 23andMe or MTHFR.net forums, on Facebook, on Twitter, and comments on these blogs. I am NOT an expert, but like most readers of this blog, just someone who wants or needs to know more. This is what I’ve learned and figured out on my own, offered as an example, nothing more.

Critical Background

23andMe gives SNP-based data. SNP stands for single nucleotide polymorphism. Polymorphism means something that can be itself but in different ways, our eyes are eyes whether they are blue or brown or hazel or violet or any other natural eye color. I won’t give an introduction to genetics here, but there are several online resources that explain these ideas, with one of the best resources being Genetic Home Reference from the US government. Depending on how much you want to know, you may wish to take the Coursera courses Introduction to Genetics and Evolution (Duke U) or Experimental Genome Science (U Penn).

1. What SNPs do you want to know about? Check here:

RegulomeDB (Stanford): Linking Disease Associations with Regulatory Information in the Human Genome: http://regulomedb.org/GWAS/

I have also found SNPs of interest in research articles, PUBMED, and other places, but this is a good start. The SNP identifier (what you need) will look something like this:

rs2187668

2. Find out which polymorphism is the one considered “healthy” or “normal”, and which one is the one associated with risk of disease? These maybe called “risk alleles” or
simply polymorphisms.

For example, for SNP “rs2187668” (one of the celiac risk SNPs) the risk indicator is (T), while the normal is (C).

3. Open your 23andMe raw data file in a text editor, like WordPad (Windows) or TextEdit or TextWrangler (Macintosh).

4. Search for the SNP you want to know about. The data will be in four columns:
– RSID
– Chromosome
– Position
– Genotype
You need to know about the first and last columns, RSID and Genotype. It will look a little like this.

rsid…..chromosome…..position…..genotype
… [many other rows of data] …
rs2187668…..6………32605884…..CT

So, this person (me) has for that SNP one risk allele “T,” (which I happen to know is from my dad, by comparing it to his scan) and one normal allele “C,” (which must, by default, be from my mom, since for every gene pair we have gotten one from each parent).

5. Repeat for all the other SNPs associated with the condition you are researching.

6. Search for more information and articles about those SNPs, the condition, and more. You can’t make sense of this without more information. And ask lots of questions.

More Tools

ENCODE:
About: http://www.genome.gov/encode/
Data: http://genome.ucsc.edu/encode/

ENSEMBL Genome Browser: http://useast.ensembl.org/

OpenSNP: https://opensnp.org/ OR https://opensnp.org/snps/

SNPedia: http://www.snpedia.com/

UCSC Genome Browser: http://genome.ucsc.edu/

#FDA vs #23andMe, Take Two — Hashtags of the Week (HOTW): (Week of December 9, 2013)

Last week we tracked opinions and responses with regards to the FDA warning letter sent to the direct-to-consumer personal genomics service, 23andMe. This week 23andMe officially announced that they are reducing the services they offer in response to the FDA’s warning letter.

23andMe, reduced

So what has been the reaction on Twitter? Let’s take a look at some of the most popular articles and examples of opinions.


First posted to THL blog: http://thlibrary.wordpress.com/2013/12/09/fda-vs-23andme-take-two-via-23andme-vs-the-fda-hashtags-of-the-week-hotw-week-of-december-9-2013/

Collecting Thoughts on the FDA vs. 23andMe

Lantern Slides: Heritance of Clefting

I’ve been reading many of the news articles and blogposts about the 23andMe / FDA controversy, and marking interesting points, agreements and disagreements, various perspectives. These are some of my favorite bits from the pieces that have come out so far. I have a distinct personal bias regarding this extremely complicated topic, but also have good friends on “the other side,” as well as having a professional commitment to attempt to be unbiased. In this collection of quotes and highlights, I try to not let my own bias interfere too much, and to fairly represent opinions both pro-FDA and pro-23andMe. Please note that, on both sides, there are extremists, who I found typically didn’t clearly express the complexity of the issues, thus most of the quotes excerpted below are from more moderate authors.


Pic of the Day - PGen
Thoughts on the FDA

“The Food and Drug Administration’s recent directive to the company 23andMe to stop marketing its genetic tests directly to consumers is a shortsighted, heavy-handed, double-standard act of paternalism.”

Marchant, Gary. The FDA Could Set Personal Genetics Rights Back Decades. Slate Nov. 26 2013 12:39 PM. http://www.slate.com/articles/technology/future_tense/2013/11/_23andme_fda_letter_premarket_approval_requirement_could_kill_at_home_genetic.html

“I am deeply frustrated by the simplistic narrative of OMG FDA BIG GUBBERMINT SILENCING DARING ENTREPRENEUR. It’s not that simple.”

Wilbanks, John. FDA’s Culture Is Mendelian Dominant Over 23andme’s Business Model. DEL-FI November 30, 2013. http://del-fi.org/post/68560843111/fdas-culture-is-mendelian-dominant-over-23andmes

“The outrage over the FDA’s treatment of 23andMe is the wrong response. We should be holding 23andMe accountable for the claims they make in marketing their product. Even a product with such great potential should have to support its claims with valid evidence.”

Curtiss, Chase. Here’s what health entrepreneurs can learn from 23andMe. The Verge Beat November 29, 2013 5:11 PM. http://venturebeat.com/2013/11/29/heres-what-health-entrepreneurs-can-learn-from-23andme/

“This incident highlights the tension between the paternalistic medical establishment that arose to deal with the dangers of 19th-century quack medicine, and a “techno-populist” element of American society pioneering personal health assessment and decision-making by leveraging new information technologies.”

Khan, Razib. The FDA’s Battle With 23andMe Won’t Mean Anything in the Long Run. Slate Nov. 25 2013 2:46 PM. http://www.slate.com/blogs/future_tense/2013/11/25/fda_letter_to_23andme_won_t_mean_anything_in_the_long_run.html

“If the F.D.A. indeed insists on making 23andMe prove beyond doubt the validity of every single correlation, no genetic-testing service will be able to economically deliver medically relevant genetic information directly to consumers. It will destroy the industry and leave medical genetics in the hands of a medical establishment that has already failed to give people an easy way to obtain and use the elemental information in their own spit.”

Dobbs, David. The F.D.A. vs. Personal Genetic Testing. New Yorker November 27, 2013. http://www.newyorker.com/online/blogs/elements/2013/11/the-fda-vs-personal-genetic-testing.html

“Years ago, the FDA used the same argument against selling blood glucose meters to patients with diabetes. I believe that the FDA is wrong in saying that data in the hands of patients will do damage.”

Bartlett, Ann. Genetic Testing and the FDA. Health Central Wednesday, November 27, 2013. http://www.healthcentral.com/diabetes/c/9993/164554/genetic-testing-fda?ap=2008

“FDA acted properly in view of 23andMe’s cavalier attitude toward its regulatory obligations and its failure to meet past commitments. However, it would be a setback for science if 23andMe were not allowed to proceed. For its research model to deliver, it needs more people, far more people in its database. A campaign to sign up a million customers is a good start, and not losing momentum is essential. Perhaps 23andMe and FDA can find an accommodation — such as a consent order — that allows 23andMe to move forward while catching up on its overdue obligations, under threat of financial penalties or even perhaps the licensing of its database.”

Munos, Bernard. 23andMe: A Fumbling Gene In Its Corporate DNA? Forbes 11/29/2013 @ 10:19AM. http://www.forbes.com/sites/bernardmunos/2013/11/29/23andme-a-fumbling-gene-in-its-corporate-dna/

“It reads like the letter of a jilted lover,” Misha Angrist, a former genetic counsellor who writes about personal genomics and teaches at Duke University, said. “ ‘We went on fourteen dates! We exchanged all these e-mails! We held hands in the park! Now you’re telling me, “F*** you,” and kicking me to the curb.’ ”

Dobbs, David. The F.D.A. vs. Personal Genetic Testing. New Yorker November 27, 2013. http://www.newyorker.com/online/blogs/elements/2013/11/the-fda-vs-personal-genetic-testing.html

“Though the FDA talks up progress, there is a risk that it may slow it down. The agency is weighing regulations on test kits sold directly to consumers, laboratory tests and software that analyses raw genetic data. It is clear that 23andMe is not the only testing firm in its sights.”

And the FDA: A regulator brings a genetics company to a halt. Economist Nov 30th 2013. http://www.economist.com/news/business/21590941-regulator-brings-genetics-company-halt-and-fda

“Is the FDA and the rest of the medical establishment too conservative about innovation and health data that consumers can get directly? Well… is the Pope Catholic?”

MacManus, Richard. Thoughts On 23andMe & The FDA. November 27, 2013. http://ricm.ac/2013/11/27/thoughts-on-23andme-the-fda/

“I asked Dr. Hamburg if she were to have any power that FDA currently lacks, what would it be? The central thesis of her reply was: “I also think we need to find a way – maybe it’s just completely unrealistic – where we can have more flexibility in the system so that every time there’s a crisis or a recognition of a need to do more…we don’t have to go through the process of seeking new legislation.””

Kroll, David. Why The FDA Can’t Be Flexible With 23andMe, By Law. Forbes 11/28/2013 @ 8:45AM. http://www.forbes.com/sites/davidkroll/2013/11/28/why-the-fda-cant-be-flexible-with-23andme-by-law/


PGEN, Take 2
Thoughts about 23andMe

“Either 23andMe is deliberately trying to force a battle with the FDA, which I think would potentially win points for the movement the company represents but kill the company itself, or it is simply guilty of the single dumbest regulatory strategy I have seen in 13 years of covering the Food and Drug Administration.”

Herper, Matthew. 23andStupid: Is 23andMe Self-Destructing? Forbes 11/25/2013 @ 3:51PM. http://www.forbes.com/sites/matthewherper/2013/11/25/23andstupid-is-23andme-self-destructing/

“On the Twitterz, I wrote that 23andMe’s attorneys should be disbarred for letting things reach this point. Interestingly, it appears that General Counsel left the company several weeks ago (and no replacement has been found). I’m not always a big fan of the FDA (they still haven’t really figured out how to approve new antibiotics), but the reality is that the FDA is like those humongous tractors used to move space rockets: they’re slow, but crush everything in their path. You can’t bullshit these guys–they just keep coming.”

Mike. Some Thoughts on the FDA Action Against 23andMe.com. Mike the Mad Biologist November 26, 2013. http://mikethemadbiologist.com/2013/11/26/some-thoughts-on-the-fda-action-against-23andme-com/

“The consequences of mistakes by 23andMe can be deadly serious. If it reports a “false positive” for a major disease, that can alter someone’s whole life (though I’m rather sure that any medical professional would obtain results from another service to confirm positive results).”

Khan, Razib. The FDA’s Battle With 23andMe Won’t Mean Anything in the Long Run. Slate Nov. 25 2013 2:46 PM. http://www.slate.com/blogs/future_tense/2013/11/25/fda_letter_to_23andme_won_t_mean_anything_in_the_long_run.html

“But as the FDA frets about the accuracy of 23andMe’s tests, it is missing their true function, and consequently the agency has no clue about the real dangers they pose. The Personal Genome Service isn’t primarily intended to be a medical device. It is a mechanism meant to be a front end for a massive information-gathering operation against an unwitting public.”

Seife, Charles. 23andMe Is Terrifying, But Not for the Reasons the FDA Thinks. Scientific American November 27, 2013. http://www.scientificamerican.com/article.cfm?id=23andme-is-terrifying-but-not-for-reasons-fda

“Some experts claim that the risk of ailments like Type 2 diabetes can only be partially calculated based on genetic information. A credible diagnosis would require understanding a lot more about the person’s lifestyle and health history. Promoting a do-it-yourself culture when talking about serious health concerns like cancer and heart disease might have major downsides. However, the opinion in favor of 23andMe is that a dangerous double standard is at work. Today a doctor can sell many types of genetic tests to a patient, at a much higher cost. Only a few have received FDA approval. So why penalize the direct-to-consumer model?”

Kaushik, Preetam. FDA vs. 23andMe: The DNA of a disagreement. All Voices Nov 29, 2013 at 8:35 PM PST. http://www.allvoices.com/contributed-news/16062954-fda-vs-23andme-the-dna-of-a-disagreement

“However, according to one expert, the accuracy of the test is not the biggest issue. The company’s testing methods have been found to meet federal standards for lab testing, called Clinical Laboratory Improvement Amendments (CLIA), said Amy Sturm, a genetic counselor at The Ohio State University Wexner Medical Center. A greater problem is that the results provide “a very incomplete view” of a person’s risk for a given disease, Sturm said.”

Rettner, Rachel. 23andMe: What’s Really Wrong with Personal Genetic Tests. November 26, 2013 01:55pm ET. http://www.livescience.com/41534-23andme-direct-to-consumer-genetic-test-shortcomings.html

“Unfortunately, due to all the complex interactions between the markers, this full unravelling is impossible. The number of interactions is probably so high that every patient will have his or her own unique complex cause of disease. And what has never happened cannot be identified or predicted by big data. Advances in genome science will improve what tests offer, but these improvements will be small. While the hope is based on big data, the reality is that most diseases are simply not genetic enough. Other risk factors such as diet, body weight, smoking, exercise and stress are too important. And big data cannot change the biology of diseases – it will not make them more genetic.”

Janssens, Cecile. It is game over for 23andMe, and rightly so. Pando Daily November 27, 2013. http://pando.com/2013/11/27/it-is-game-over-for-23andme-and-rightly-so/

“It’s not all 23andMe’s fault. In my book research, I’ve read a lot about personal genomics. And the more I read up on genetics, epigenetics, etc., the more I see that the scientific community still has very little clue about what actually causes disease.”

MacManus, Richard. Thoughts On 23andMe & The FDA. November 27, 2013. http://ricm.ac/2013/11/27/thoughts-on-23andme-the-fda/

“THAT is the future. The DTC SNP chip era is ending. 23andMe’s two main competitors, Navigenics and deCODEme, already left the market. 23andMe’s SNP chips are slipping rapidly into the past. And 23andMe knows it.”

Greely, Hank. The FDA Drops an Anvil on 23andMe – Now What? Stanford Law School Blog November 25, 2013 http://blogs.law.stanford.edu/lawandbiosciences/2013/11/25/the-fda-drops-an-anvil-on-23andme-%E2%80%93-now-what/

“As to what will happen now is actually very simple. 23&Me will have to either file as a diagnostic and go through medical approval (which will cost millions of dollars) or start to only offer their service through a medical practitioner, more than likely through a clinical geneticist that can walk a patient through the intricacies of genetics and disease. The problem though is that according to the US News, there are only 358 clinical geneticists currently practicing in the United States. Measure the knowledge dissemination of a clinical geneticist, who usually only sees patients through referral, to the marketing power of a Google backed company like 23&Me, that was gearing up for a television marketing campaign: the outcome is a nail in the proverbial coffin for recreational genomics. As for 23&Me, its problems will only worsen as it will struggle to validate itself through the FDA since genomics is still in its infancy, thus: RIP the only viable, scalable consumer genetics company in the world.”

Pablo, Juan. What is next for Direct to Consumer Genetics. 1EQ Nov. 27, 2013. http://1eq.me/blog/?p=182

“We’re ignoring the bigger issue! The real reason 23andMe can’t test for my mutation is the company who formerly held a patent on BRCA1 and BRCA2 still has a proprietary database of our genetic mutations, and they aren’t sharing it with anyone! We need to fix THIS. We need for the government to help us figure out how data can be shared rather than be treated as a trade secret.”

Andrea. FDA B*tchslap of 23andMe: A BRCA Previvor’s Perspective. Brave Bosom November 26, 2013. http://www.bravebosom.com/fda-btchslap-of-23andme-a-brca-previvors-perspective/

“23andMe is simply doing what the Internet does best: forcing old dogs to learn new tricks. That’s what the fight between Uber and taxicab commissions is about. Same for AirBnB and hotel regulators. The only profession slower to change how they do things than doctors is bureaucrats. So the FDA’s reaction is understandable — but misguided.”

Szoka, Berin. FDA Just Banned 23andMe’s DNA Testing Kits, and Users Are Fighting Back. Huffington Post 11/26/2013 7:46 pm. http://www.huffingtonpost.com/berin-szoka/fda-just-banned-23andmes-_b_4339182.html


23andMe Celiac Disease Risk Markers
Thoughts about Regulation of Personal Genetic/Genomic Services

“We need DTC screening. It helped me. It’ll help many others. But until the FDA learns how to deal with Bayes’s rule and its discomforts – and until DTC companies figure out a business model that isn’t based on massive loss leadership – we’re going to keep coming back to this clash of culture and business models. Both sides need to make some changes if we’re going to avoid doing this over, and over, and over.”

Wilbanks, John. FDA’s Culture Is Mendelian Dominant Over 23andme’s Business Model. DEL-FI November 30, 2013. http://del-fi.org/post/68560843111/fdas-culture-is-mendelian-dominant-over-23andmes

“23andMe embodies a generation preoccupied with itself. Our right to know has superseded our ability to understand. Empowerment has evolved as data, information, knowledge and wisdom are almost seen as one in the same. Whether 23andMe’s reporting is actionable is to miss the point. When you’ve got your data, what more do you need, really? Epigenetics…what epigenetics?”

Vartabedian, Bryan. 23andMe – Why Our Big Government is Right. 33 Charts November 28, 2013. http://33charts.com/2013/11/23andme-government-is-right.html

“As a citizen, I expect corporate transparency for any new health product. As a patient, I think the risks of taking the test outweigh the benefits for my health. As a doctor, I have my concerns for people with distress or misinformation from results of an unproven genomic test. As a human being, I worry about misuse and unintended social consequences of our genetic heritage.”

Matthew Katz on 23andMe: “Return to Sender, Genome Unknown: Seven Reasons I Will Return My Personal Genome Kit.” e-patients.net December 3, 2013. http://e-patients.net/archives/2013/12/matthew-katz-on-23andme-return-to-sender-genome-unknown-seven-reasons-i-will-return-my-personal-genome-kit.html#!

“Our society has increasing information and public access to information. While it is difficult for me to think that this isn’t a good thing overall, we have to thoughtfully consider the possible unintended negative consequences. This case is part of a larger pattern of sacrificing quality-control filters for the sake of open access. This increasingly puts the burden on the public to make sense of sometimes complex and technical information. Everyone, now, can be their own geneticist.”

Novella, Steven. The FDA and Personalized Genetic Testing. Science Based Medicine November 27, 2013. http://www.sciencebasedmedicine.org/the_fda_and_personalized_genetic_testing/

“Community forums and news sites across the web exploded with debate, with most people rallying to 23andMe’s defense. The company’s ample support-base claims that the Food and Drug Administration is over-regulating, and is stifling innovation. However, the majority of geneticists and medical professionals I’ve spoke with have sided with the Food and Drug Administration, arguing that many patients require genetic counseling after receiving DNA test results that point to a high risk of cancer and other life-threatening conditions.”

Farr, Christina. Here’s why the FDA is targeting 23andMe. MedCityNews November 26, 2013 10:00 am http://medcitynews.com/2013/11/heres-fda-targeting-23andme/

“When 23andMe sent us our results, we followed their advice: we asked our doctor to talk about them. Most doctors didn’t know where to begin. But the more of us ask about 23andMe, the more the medical profession is catching up. Slowly but surely, they’re brushing up on genomics, taking the time to understand the site, and talking to us about our results and what, if anything, to do about them.”

Szoka, Berin. FDA Just Banned 23andMe’s DNA Testing Kits, and Users Are Fighting Back. Huffington Post 11/26/2013 7:46 pm. http://www.huffingtonpost.com/berin-szoka/fda-just-banned-23andmes-_b_4339182.html

“If you scare somebody into believing they’re high risk, they could take actions that hurt their health,” says Gutierrez. Not only is the data on some genetic links inconclusive, he adds, it’s well-chronicled that patients can push their doctors into authorizing unnecessary procedures. “Doctors do a lot of double mastectomies because of fear.”

Brady, Diane. Do Genetic Tests Need Doctors? FDA Defends Its Challenge to 23andMe. Business Week November 27, 2013. http://www.businessweek.com/articles/2013-11-27/do-genetic-tests-need-doctors-fda-defends-its-challenge-to-23andme#r=hp-lst

“Should this third party be a doctor, as some (mostly doctors) are arguing? There are certainly doctors out there who have a great grasp of human genetics. But there aren’t a lot of them. And even the doctors who do know the world of human genetics inside and out aren’t in a position to help people navigate every nook and cranny of their genome. This is a job for software, not for people.”

Eisen, Michael. FDA vs. 23andMe: How do we want genetic testing to be regulated? November 26, 2013. http://www.michaeleisen.org/blog/?p=1480

“This is a broad cautionary tale,” says Quackenbush. “We need to be careful about how we define phenotypes, such as whether a patient is likely to respond to a drug or have an adverse event, because if we don’t do it well, we’re not going to have good tools for advancing personalized medicine.”

Hayden, Erika Check. Personalized cancer treatments suffer setback. NATURE 27 November 2013. http://www.nature.com/news/personalized-cancer-treatments-suffer-setback-1.14238


OTHER COLLECTIONS

Alexander, Lindsey. Six smart takes on the 23andMe FDA standoff. MedCityNews November 27, 2013 11:58 am. http://medcitynews.com/2013/11/smart-takes-23andme-fda-standoff/

Dobbs, David. I Got Your 23andMe – FDA Food Fight Links Right Here. Neuron Culture November 30, 2013. http://daviddobbs.net/smoothpebbles/i-got-your-23andme-v-fda-links-right-here/

Exploding & Exploring #PGSethics (via #23andMe vs the #FDA) — Hashtags of the Week (HOTW): (Week of December 2, 2013)


RiskBites: 23andMe, FDA and DNA health profiling: http://www.youtube.com/watch?v=VZXDtTNqDuQ

As you’ve probably already heard, on November 22nd the FDA sent a Warning Letter to the personal genomics company 23andMe. As someone who has participated in clinical studies about personal genomics and blogs (occasionally) about this area, my social media streams have been EXPLODING!

Just through Twitter (for which it is easier to grab numbers), in the past 3 days there have been over two thousand more posts mentioning 23andMe, and over 500 new mentions in my own Twitter interactions stream. I cannot keep up, I can’t read them all, much less reply. Friday night the conversation was burning the wires, and I finally had to stop to sleep. I promised I’d get back to folk in the morning. In the morning, I had 250 new interactions. While I tried to read those, I made it through about 50, and in that time another 163 had arrived. During the conversations, a number of us decided we had so many folk in the conversation we needed a new hashtag to corral the content. We decided to use #PGSethics for “Personal Genomics Services, Ethics.” Obviously, this is the topic of the moment, but this blog post is going to require being extremely selective to merely hint at the boundaries of the conversations occurring even as I write this. Also, because the very nature of the topic is enormous, with complex issues, much of the conversation is shifting back and forth between Twitter and blogs. Analyzing all this will make a fabulous doctoral dissertation for someone!

Here are the main hashtags I am using to track this, BUT with a huge caveat. Most of the conversation is not happening through hashtags right now, and I seem to be being cc’d on much of several conversations. And since many of the most pungent comments don’t even include the word “23andMe” the only way to really find what people are saying is by sheer brute force digging. Still, this is a start.

#23andMe: https://twitter.com/search?q=%2323andme&src=typd
#FDA: https://twitter.com/search?q=%23FDA&src=typd
#PGSethics: https://twitter.com/search?q=%23PGSethics&src=hash


First posted at: THL Blog http://wp.me/p1v84h-1yJ