Archive for the ‘DTC Genetic Testing’ Category

Was the FDA Right to Shut Down 23andMe’s Marketing?

Monday, March 3rd, 2014

My opinion: the FDA was right to act in November by asking 23andMe to stop marketing  its personal genome service.  Now, don’t get me wrong, I have been rooting for 23andMe to succeed at what they are doing in the Consumer Genomics (CG) space.  I have been hoping that “opening the door to the genome” would produce some interesting new insights about biology that might escape traditional scientific inquiry.  I have been hoping, too, that taking genetic information directly to the people might further empower individuals in the health care system and begin to counter balance the medical profession and insurance companies.  However, once the FDA communicated to 23andMe that their offerings looked like a medical device to the FDA and would the company please take certain steps, 23andMe’s choice was really to comply or break the law.  Based on what’s public, the action by the FDA in November should have been no surprise to the company.

So, the real issue that many are unhappy about is whether CG should be regulated at all.  Should the FDA have categorized 23andMe’s personal genome service as a medical device in the first place? There is room for debate on that point, however, I think at that time it was a reasonable position for the FDA to take (remember, in 2010 the CG industry was not without controversy over quality and utility, at least according to the GAO).  Furthermore, the industry, including 23andMe was distributing what had for many years been considered medical advice.  Why should the CG companies get to ignore regulations that other diagnostic companies are bound by?  I, for one, am generally pretty happy to have an agency try to make sure that the medical products that I use are of reasonable quality.  That is not the case in other parts of the world.

Since that time things have changed.  Some studies have shown that CG info is probably mostly harmless.  It may well be time to engage more deeply in the conversation over what, if any, regulations should bear on genetic information.  While many are of the opinion that there is no harm to one knowing one’s own genetic code, I’m not so sure.  I can certainly envision in a large population some subset of people deciding to take their health in their own hands and making a bad choice based on erroneous genetic information.  Maybe we should let them do that.  Maybe that is really what we are debating in the guise of the 23andMe/FDA issue.

FDA Tells 23andMe to Stop Marketing: Death Knell for DTC Genomics 1.0?

Tuesday, November 26th, 2013

The FDA on Friday published a letter  addressed to 23andMe’s CEO, Anne Wojcicki, telling the company to cease marketing it’s Saliva Collection Kit and Personal Genome Service (PGS). In the letter, Alberto Gutierrez, Director of the Office of In vitro Diagnostics and Radiological Health, describes the many interactions the Agency has had with 23andMe, informing the Company of the need to comply with the regulations and attempting to assist the Company in doing so. He also describes how 23andMe did not fulfill their promises to provide information to the Agency. I’m kind of surprised that 23andMe did not work with the FDA, since it ought to be no surprise that the FDA would order 23andMe to stop, given their apparent lack of compliance. Hopefully we will find out more about why the Company thought they could ignore the FDA.


Two additional thoughts that this development seems to support: the final bell for DTC genomics 1.0 and FDA is going to regulate genetic tests. 23andMe was really the last prominent player in DTC genomics left standing, after Navigenics and deCode were purchased by big Life Sciences firms with no apparent interest in consumer genomics. It sort of confirms that the space of unregulated genetic testing with medical information packaged alongside is rapidly diminishing in size and probably won’t exist in this form for long. It seems likely that these technologies and products will end up being regulated and available largely via prescription. Score one for the medical profession. However, there may well be a next chapter written and it could have some interesting twists. Say, for example, a 23andMe equivalent offers that service from an international location. I think it will ultimately be hard to hold a lid on consumer genetic testing.

DTC Genomics: Opportunity Lost?

Monday, December 31st, 2012

Once I warmed up to the idea of startup companies offering to sequence the DNA of anyone capable of ordering from Amazon.com, I began to look forward to what might come of this nascent industry. Enabling individuals to have their DNA sequenced certainly seemed like an out-of-the-box idea at the time. I wondered if a so-called paradigm shift might arise from placing genetic information, unfiltered and unadvised, in the hands of those whose genes were being sequenced. Here were (and still are) two of my chief hopes for paradigm shifting that might come from throwing the genetics box wide open:

  • Will breaking the “chain of command” on health information change how we think about healthcare? The initial response from the medical world to the DTC genomics industry was less than enthusiastic, ostensibly because of the potential for harm when the uninformed masses got their hands on their gene sequences. This turns out not to be true—there is no evidence of harm from accessing one’s own DNA sequence information. Furthermore, there has been neither a flood of buyers nor a spate of lawsuits. The collective yawn over the availability of DNA sequencing (initial excitement not withstanding) suggests this might be more of a step along the way than a cannon shot.
  • Will putting this information in the hands of all who wish to know change how we think about genes? Over the last 60 years we have become quite genocentric in our view of biology. Genes are the “blueprints of life”, an identifiable “first cause” that drives everything else in the living world. For example, the term “oncogene” suggests that we have genes whose purpose is to cause cancer. That is possible, of course, but that suggests that there is some advantage to the organism to develop cancer, which doesn’t seem likely. As I think of it, genes are a part of a system we call an “organism” and they are no more or any less important than proteins, carbohydrates, etc that comprise that organism. It may be that not all of the diverse causes of cancer are genetic and we need to take a more holistic view of disease pathogenesis.

Essentially, what I am hoping for with the emergence of the DTC genomics industry is that the “hive mind” might provide new direction on genetics and its role in health and society. We might get really novel answers to thorny genetics questions like “what happens to missing heritability and is it important anyway?” Might it also be enough of a nudge to permanently put the paternalistic relationship between physicians and patients in the past? My hope for the DTC genomics industry is that it will help us reach a more balanced view of the role of DNA in living organisms.

However, for the moment at least, it appears that the wind is going out of the sails of the industry. As evidence, here are some recent developments:

  • Over the summer Navigenics was bought by Life Technologies, Inc. Gone was an industry pioneer.
  • This fall, deCODE was bought by Amgen. Not a surprising end to deCODE’s rocky road, but gone is another industry pioneer.
  • Recent developments announced by 23 and Me (patent received, grants funded, seeking FDA approval for products) sound suspiciously conventional. Has 23 and Me lost its will to break the mold?

Will there be a DTC genomics industry 2.0? The failure of pioneering companies in any new industry is not unusual. Yet, I am hopeful that these shifts will still happen. It seems likely, though, that it will be new companies that move the field forward and that (as usual) it will take longer than it initially seemed it would.

DTC Genomics Update

Friday, October 5th, 2012

I have fallen a bit behind in posts about the DTC genomics field.  One change in my posts to note with respect to this subject, I am going to start using the term “personal genomics” to describe the field, since it seems to better capture what these companies are about.  Here are some developments from the last few weeks:

23andMe patent for Parkinson’s

23andMe received their first patent titled “Polymorphisms associated with Parkinson’s Disease” in May.  As discussed here  and here this news reveals a bit more about the company’s commercial aspirations and creates a rub with their espoused culture of “democratization of genetic information”.

Navigenics bought by Life Technologies

On July 16 Life Technologies announced that it had bought personal genomics provider, Navigenics for an undisclosed amount of money.  It appears that LTI purchased Navigenics for its CLIA lab and to gain an entrée to genetic testing.  No word from LTI on pursuing DTC genomics.  What does this say?  Near term, even Navigenics thought personal genomics is going to be slow moving and an uncertain success.

23andMe seeks FDA approval

In July, 23andMe announced that it would seek approval for seven of its tests from the US Food and Drug Administration.  The nature of the tests was not specified.  As you will recall, in 2010 the FDA tangled with DTC genomics/personal genomics companies over the accuracy of their tests and related medical information.  This looks like another hint at the strategies 23andMe will use to actually make money in the personal genomics business.

Where does the industry stand now?  It is a struggling field, fraught with challenges, including relevance, uncertain social acceptance, and potentially a new level of government regulation.  Is it a field on the brink of extinction or explosion?

DTC Genomics Profitable?

Tuesday, July 3rd, 2012

Maybe there is hope that 23andMe, as well as the other DTC genomics companies can make a living in the end:

http://www.bio-itworld.com/els/2012/05/29/23andme-announces-first-patent.html

Although, it is not clear how useful this particular patent will be.  More detailed discussion here:

http://www.genomicslawreport.com/index.php/2012/06/01/patenting-and-personal-genomics-23andme-receives-its-first-patent-and-plenty-of-questions/

An Academic—Industry Partnership to Study DTC Genomics

Tuesday, March 6th, 2012

A GenomeWeb story today provides details of a study being performed by researchers at Brigham and Women’s Hospital and the University of Michigan on the motivations for getting and effects of DTC genomic testing. The study will look at the attitudes and motivations of 1000 people who order tests from 23 and Me or Pathway Genomics before testing. These results will be compared with the subjects’ attitudes toward their health and changes in their behaviors following testing to ascertain how people use genetic information.

Two interesting aspects to this study are the academic-industry collaboration and the window into social attitudes toward genetic information. The ability to complete this research will require the industry participants to cooperate, which in turn required give and take from both academia and industry to accommodate the needs of both parties during the planning process. These two groups are often at odds, so it is heartening to see a partnership that recognizes that both parties are motivated to make positive contributions to the greater health good. The road to this agreement is described in this paper by Lehmann and colleagues .

Clearly, the payoff for this study will be answers to questions around why people are interested in this type of testing anyway and what effect it has on their lives. A big concern from the health policy world has been that dispensing this type of information without expert interpretation might lead to a range of ill effects on the recipients. Happily, this so far has not been the case and for the most part I don’t believe ill effects will be observed in the future.

I am curious to see what the motivations for so-called “recreational” user are, if those can be identified in this study. Similarly, it will be interesting to infer from these results how seriously people take genetic information. My sense of it is that these results may reflect back in surprising ways on the usefulness of a variety of other genetic and genomic testing services, primarily involving the risks of disease. This study will hopefully provide a novel window into what we as a society really think of genomics.

DTC Genomic Testing—What’s it good for anyways?

Friday, December 30th, 2011

What is the fuss over DTC genomic/genetic testing all about anyways?  DNA is just a sequence of letters, isn’t it?  Lots of people are experiencing angst over the fact that these upstart companies would have the nerve to sequence part of people’s DNA for them.  I mean, it’s just a bunch of letters, isn’t it?

Seriously, I have to admit, I, as a molecular biologist, have experienced a degree of self-righteous indignation that these so called entrepreneurs would debase the field of genomics and medical genetics by offering to sequence anybody’s DNA for a price.  It seems beneath all of the effort and concern that has been invested in developing the field.  All of that hard-earned knowledge being sold off the shelf like a cheap tabloid.  That was the feeling, anyway, and I imagine some amount of that type of sentiment contributes to the resistance to the development of the DTC genomics field.

However, the reality is that those letters are attached to a lot of other information that may have health implications.  There are several serious genetic diseases (ironically, most discovered prior to the genomic era) whose sufferers (or carriers) traditionally receive genetic counseling to learn how to cope with the situation.

Beyond these known disease situations, the hype of the genomic age has led to lofty expectations for genomics.  Those letters are our shorthand for the substance (DNA) that gives us our individuality and which when altered is may give rise to disease, tell us who our relatives are, and potentially make us weller-than-well (if only we can change it a little bit).  We’ve bought pretty heavily into the idea that we are our DNA and therefore, revealing it is, in a sense, giving ourselves away.  There is an ever-growing body of genomic information that pins many hopes and dreams and futures to those four letters.  So, it’s not surprise that feelings run high when it comes to genomic information.

So, DNA/genes/genomics is loaded with expectation, but what’s DNA sequence information really good for when one takes a hard look at it?  How is it being used now?  We can start with a partial list of uses that have been found for DNA sequence information:

  • Disease risk assessment
  • Disease diagnosis
  • Preconception screening
  • Forensics
  • Genealogy
  • Recreation

The fuss that these upstart companies have created has revolved around health information for the most part.  That would be the first three items on the above list.  These companies are seeking to sell their customers their own DNA sequence information, along with an assortment of linked information regarding the health implications of the DNA sequence in question.  It’s the health information being sold along with the sequence information that has caused the kerfuffle with the FDA and the medical profession.  And, for some understandable reasons…

Long before we even knew what DNA was, enterprising companies and individuals were taking advantage of our sensitivity around health issues, selling remedies and other noxious (or inert) substances to solve health problems.  This profitable, but unethical, behavior was addressed through creation of the FDA, whose job it is to keep the nation’s healthcare resources safe.  So, here we have what might be called the modern day version of the snake oil salesmen (at least in the estimation of some): the DTC Genomics companies.  Not surprising, then, that the FDA might feel compelled to step in, as it appears they are likely do.  Similarly, many in the medical community have allowed as to how they would prefer that their patients not have access to their DNA information.  Also not surprising, since for known genetic diseases the medical profession has heretofore controlled this information  However, as it currently stands, the genomic profiles being sold by DTC genomic companies are pretty innocuous, so it doesn’t stand to reason to restrict the type of genomic information the DTC companies are selling.

My view is that we stand at a crossroads of sorts.  Down one road we regulate human DNA sequencing as a medical procedure, bequeathing control of the resulting information to specialists licensed to dispense that information in carefully predetermined ways.  This is a suitable model when the dispensing requires extensive training to avoid injury to the receiving party, as in the case of prescription drugs or cardiac catheters.  For genetics in the current information-rich environment and age of patient empowerment, I believe that there are a limited number of situations in which harm would come to a person who knew their own DNA sequence.  And, even those cases (e.g. Tay Sachs disease) it is questionable if the actual harm is sufficient to bar access except under carefully controlled conditions.

The other road might be one in which one can obtain the sequence of their genome, if they are so motivated and can afford it.  It is likely that reasonable quality services will be available to provide this information soon (currently there are concerns about quality with many of the providers; note to DTC genomics companies: you would do well to pay attention to the quality of your sequencing if you want to survive).  The latter three items on the list above would be supported by relatively simple, low hurdle access to sequencing services.  In fact, my guess is that FDA regulations or no, in the near future a motivated person will be able to get their genome sequenced.  Somewhere.

My concern  is what we might lose if we over-regulate DTC genomic testing.   The latter three items on the list have emerged in recent years.  What else might be added to the list in the future?  What uses for DNA sequence data are not on that list?

What is DTC genomic testing good for anyways?  I don’t think we know the answer to that question yet.  Should we follow the Silicon Valley paradigm, let go of the information, and see what millions of “users” out there do with it?  Should we “crowd source” genomics?  Maybe there is someone out there with a marketing degree, a penchant for spreadsheets, and the interest in genetics who can offer a creative solution for the problem of missing heritability of SNPs.  Maybe a user group will surprise us by producing a creative solution to one or another vexing biology or health problem that has stumped the collective brain power of us professionals?  We may not know what DTC genomics is good for unless we give it a chance.

Testing DTC Genomic Testing I

Monday, November 14th, 2011

Now that we’ve all gotten over the shock of being able to order a genetic test through Amazon.com, we can begin to actually ask some useful questions about DTC genomic testing and its utility.  Not much is really known about how useful it is.  However, in the tradition of Hippocrates, the first question we must ask is “is it harmful?”

The medical research community was all over the task once the DTC genomic testing services emerged from the intellectual garages of Silicon Valley and elsewhere and hit the streets.  Two studies of note asked the question above, using Navigenics’ service as a model.  The first paper was published by Bloss and colleagues in the New England Journal of Medicine in February of this year.  Just last month, James and colleagues published another study of the effects of DTC genomic testing in the Proceedings of the Mayo Clinic.  Neither paper reported any untoward effects of genomic testing under these circumstances on the test population.

More studies of DTC genomic testing are in the offing, I’m sure, in addition to the commentary and other reports on the technology so far published.  Now might be a good time to take a longer look and ask some of the interesting questions about DTC genomic testing, what it means, and why it created such a commotion.  I am in the process of shifting through many of these reports and opinions and will write another post soon on the subject.

Genomic Test for your Kid’s Sports Ability? Oh, Please!

Friday, May 27th, 2011

The US FDA just sent out more letters to genomic testing firms asking them to explain why their testing kits should not be regulated.  The companies in question (and their target market) were Lumigenix (disease predisposition), American International Biotechnology Services (AIBiotech, workout optimization for athletes and also disease predisposition), and Precision Quality DNA (PQDNA, disease predisposition and drug response).

Based on the blogosphere reaction, the testing of genomic influences on athletic performance drew the most attention.  I don’t know much about genetic influences on athletic performance, but I don’t think anyone else does either.  Hence the reaction to such a product—is there really any value there?  I already have to submit a copy of my son’s birth certificate to enter him in certain sports tournaments.  Am I also going to have to submit his genetic profile so he can join AYSO?

For all three it appears to me that the FDA was pretty reasonable in exercising its mandate to protect the public health by blocking unreasonable medical claims for products.  It’s unfortunate for those companies that are trying to do the right thing by backing up their genetic testing services with real data; they may well have to carry the burden of federal regulation soon.

 

DTC Genomic Testing: a Window on Society?

Tuesday, April 19th, 2011

I continue to believe that the discussion surrounding the Direct to Consumer (i.e. DTC) genomic testing is basically a healthy thing (pardon the pun).  It seems to me to be a window into the larger conversation about the role of health care in society and evidence that we do pretty well in letting information flow freely.  I think that’s a good sign of a free society.

The DTC genomics testing debate seems to have looped in a group of people that are: a) health conscious, b) sophisticated, and c) medical non-professionals.  These folks are interested in taking advantage of the health empowerment that information technology and genomic technology have provided.  In this endeavor, they are bumping up against the health care system, which is fairly conservative and has its own status quo.  This latter element is certainly something those sophisticates who have been empowered by genomic technology (via DTC genomics companies) are not necessarily interested in minding.  The good news is that the debate around genomics and health care empowerment has been civil so far.  The court in which the debate is being conducted is the halls of the US Food and Drug Administration.

The FDA had a meeting…

In between the summer of 2010 and the US FDA’s meeting in March 2011 to hear feedback regarding DTC testing, Amy McGuire and colleagues published an article in Science proposing a mechanism for regulating these new genetic tests.  Essentially, McGuire et al proposed a “risk-based stratification” of regulation of these tests.  This means that tests thought to carry higher risks of harm will faced tighter regulation.  For example, testing for breast cancer predisposition might be subject to significant oversight because women face the risk of surgery or other significant and potentially harmful healthcare consequences based on the outcome of the test.

On March 8-9, the FDA’s Molecular and Clinical Genetics Panel heard testimony from a variety of stakeholders of DTC testing.  On one side, as one would expect, were the DTC genomics testing providers arguing that these tests should not be regulated out of hand.  In fact, the representatives of these companies seem to be willing to accept the risk-based stratification approach that the FDA appears to be leaning toward.  Their backers further argue that individuals should have access to their own genetic information and that the FDA should not come down hard on a promising new industry.

On the other side were some significant groups, such as the American College of Pathologists, who argued that lax regulation could be harmful to consumers.  The significant risks of DTC genomic testing were pointed out, including privacy concerns and inadequate support for the inevitable health-related questions from the recipients.  These folks also raised other interesting new concerns that need to be vetted.  For example, inappropriate dissemination of genetic information could be harmful, both to the tested individual (through inappropriate use by employers and insurance companies) and to their relatives who share some of their genotype.

Others brought recent information to the FDA panel.  Subsequent to the initial actions by the FDA last summer, a number of studies have been performed to examine the behavioral consequences of DTC testing among consumers.  So far the results have not suggested any systematic negative consequences, such as anxiety, for those who undergo testing.

All told, my sense of the reports from the meetings was that it was a pretty fair exchange of information, which raised legitimate concerns both for and against DTC genomic testing.  Yet, there are a lot of questions still to answer about how these technologies will serve society.

What about prenatal sequencing and other ethical questions

Although I don’t have the answer to this question, the recent paper from Lo et al in which the genome of a fetus was sequenced, raises questions about the appropriateness of massive prenatal testing.  Prenatal testing for even a single gene faces tough scrutiny, so what do we do when we can test for thousands of gene variants?  In this example the testing was for a single gene mutation (beta thalessemia), but the result showed that an entire fetal genome can be sequenced using a blood sample from the mother.  One positive here: this testing approach is non-invasive.  However, one can imagine the potential demand for prenatal sequencing to determine not only disease susceptibility, but also “soft” traits, like presumed intelligence.

Another question that I think may be under appreciated by people in favor of DTC testing (as pointed out by CAP) is the impact of the results on those genetically related to the tested individual.  What if those people, brother and sisters, are not interested in their genotype or would rather not know?  Does one have the right to post their genotype on the internet?

An extension of that idea came to life with the West family, in which each of the four members of the family underwent whole genome sequencing.  Although the genomic sequences of the kids are not public, one of the parents did submit their genome sequence to the NCBI database of genome sequences, thus releasing half of the genetic info of the kids.  Is that a privacy breach?

Another twist to that theme revolves around research on parental choice with respect to DTC testing of their kids.  A report from Tercyak et al in the journal, Pediatrics, suggests that parents who themselves undergo DTC testing are more likely to have their kids tested.  Parents were also more likely to favor testing if they thought their child was at risk or if they had a positive risk-benefit view of DTC testing (duh!).  Given the variability in quality of follow-up with these tests, it seems fair to question the use of DTC genomic tests in children.

Social liberty?

Not to overdo it, but what I find interesting in the DTC genomics debate is the renegotiation of power between health care consumers and health care providers.  It’s a bigger trend than just DTC testing, as evidenced by broader trends in consumerism in medicine.

One of the key arguments heard from those in favor of DTC testing is that they have the right to know information about themselves.  It’s hard to deny the truth in that.  But, there is definitely a balance that must be struck between individual liberties and the welfare of society.  The discussion of what to do with DTC testing is an interesting place to listen to that discussion in a very personal way.