
Last chance: let the FDA know why you want direct access to your own genome  - dwwoelfel
http://www.wired.com/wiredscience/2011/04/last-chance-let-the-fda-know-why-you-want-direct-access-to-your-own-genome/
======
ShabbyDoo
This is what I submitted to the FDA:

\----

I am angry that the FDA is considering limiting access to my own DNA. How is
this within the scope of the FDA's authority? What is next? Will I be
prevented from purchasing a glucose meter because I can not be trusted to know
my own glucose levels? Maybe the FDA should outlaw the sale of blood pressure
monitoring devices. After all, I might mis-interpret my own readings.

Here's what I suspect is really going on: The FDA is being pressured by the
insurance industry to restrict consumers' access to their own DNA because of
the information asymmetry between the government's preclusion of insurers
ability to consider genetic data when determining eligibility and consumers'
recently available ability to cheaply know if they have a predisposition for a
variety of potentially expensive or life-limiting illnesses. That the FDA is
likely pandering to this industry under the dishonest guise of consumer health
protection makes me more distrustful of it as an independent entity.

\----

If my suspicions are right, this is a perfect example of how regulation begets
regulation. The insurance industry is right to be scared of this government-
mandated information asymmetry and the potentially horrific impact it might
have on profitability. Imagine that everyone who new he had a high propensity
for a degenerative disease made a very rational choice to buy nursing home
insurance. The insurance companies would have little alternative but to price
their products based on the the probability that those who are genetically
predisposed to such illnesses would comprise the risk pool. This would likely
price out a huge portion of the US population and effectively shut down the
entire product category.

If we allow the insurance industry to do its own genetic testing, we will
effectively take away the ability for a huge swath of the population to
purchase life, nursing home, or health insurance. The effect would be that the
US government would be the de facto insurer through Medicaid and other wealth
transfer programs. And, because those who would find themselves un-insurable
would not be contributing any of their own money toward their likely future
care needs, the insurable population would indirectly pick up the slack
through increased taxation or more government borrowing.

So, what can be done? Before we had our children, I imagined purchasing meta-
insurance -- insurance that my children would be insurable. I wanted to buy
this insurance BEFORE conception. My rate would be a function of my wife and
mine's DNA testing, her health status, and her adherence to pregnancy best
practices (don't get drunk, etc.). If we were quoted a high rate because our
future children were deemed high risk, we would have to consider the moral
issues of knowingly producing a child which could have a life of suffering
(adopt instead, use a sperm/egg donor, etc.).

What would this insurance cover? I haven't thought through the mechanics, but
I would like for such a product to allow the purchase of various health-
related insurance products at rates not dependent on my children's genetic
make-up or current physical condition. I would also like a nursing home-esque
provision which would pay out if my children ended-up having expensive needs.
[My otherwise healthy five year-old Aspie costs us thousands a year in non-
covered services (social skills group, etc.). I can't imagine having a kid
with CP. etc.] Imagine having a kid with Downs' Syndrome. How much money would
you need so that your lifestyle would be the same as if your kid was born
healthy?

The insurance would be sold as follows: Upon receiving a price quote, I would
obligate myself to purchase the insurance if we conceived a child which was
born alive and lived for more than N months. The obligation aspect of the
product is designed to prevent an obviously nasty selection bias effect.

So, why is this insurance not available? Current government regulations
coupled with social welfare programs take away the incentives. Let's presume
that, if the US because a libertarian-esque country that the majority of
children born would not be insured in this way -- after all, we have lots of
evidence that many parents can't even provide immediately necessary things for
their children. [Note that I consider myself a weak libertarian.] And, let's
presume that letting children suffer is politically unacceptable. What if the
government effectively privatized a huge swath of its social welfare programs
by offering this insurance for free -- genetic testing be damned. The
effective future payment stream would not be much different than it is today
because the government pays for poor sick people anyway. We could rid
ourselves of many layers of regulation and allow the free market to do what it
does best.

I am strangely hopeful that the availability of direct-to-consumer genetic
data will necessitate such a change in the ways US citizens have to mitigate
health-related risks. Unless we peel back the layers of regulation already in
place and offer market-centric replacements for their intent, we will see more
and more inefficient layers added over time.

~~~
Alex3917
"Will I be prevented from purchasing a glucose meter because I can not be
trusted to know my own glucose levels?"

Then again, the fact that you (apparently) don't know that home glucose meters
are largely a hoax shows why they want to regulate DNA testing.

[http://www.nytimes.com/2009/07/19/health/policy/19monitor.ht...](http://www.nytimes.com/2009/07/19/health/policy/19monitor.html)

~~~
TheEzEzz
This is exactly a situation where the FDA _should_ step in. The FDA should
make sure that people can trust what they are buying (when it pertains to
health), not make sure that people don't have the choice in the first place.

~~~
hammock
Actually there is another regulatory body called the FTC that does that.

------
prat
These are my first impressions on reading this and parts of other linked
articles in it. My opinions are fallible and often change over time.

First, being in the field and a part of the teams that first published the
general human genome and the individual human genome, I know that our current
knowledgebase of genomic variant <-> disease correlation is not very vast. We
don't even know how much more or less important are the particular type of
variants "SNPs" that personal genomics companies mostly mine, in comparison
with other types (Insertion/deletions , structural variations, copy number).
At more serious genomics research institutes, we are still trying to figure
out the genetic pathways that might be affected by this mutation or that - far
from actually predicting their effects on actual physical condition. So does
that mean personal genomic companies are far ahead of institutes in their
research? I am not so sure.

Second, I think we need regulation here for the same reasons that we need net
neutrality. I wouldn't be surprised if with time, the reports start advising
you on which of the alternative drugs would be most beneficial for your
genotype and disease. I would still be okay with it if companies like 23andme
published their research or atleast cited publications - but I am not sure
they believe in public access when it comes to their findings. (I can be wrong
on that - so correct me if you know better)

Finally, I actually like the prospect of public driven science in addition to
just organization/scientist driven, as that is likely to fund some actual
science in addtion to pseudo science. So one solution I can think of is for
FDA to approve a most trusted mutation screen for all these personal genomic
companies to abide by. Let them focus on their core competency which is
sequencing and customer interface and not research, If however they come
across findings that might be beneficial, let them publish it in a peer-
reviewed journal and apply to FDA to add it to the universal mutation screen.

~~~
maratd
_Second, I think we need regulation here_

You have no business telling other people what information they can or cannot
acquire, and by what means they do so. Even if you're right, you still have no
business dictating to others what they can and cannot do, simply because you
consider yourself to be more learned and qualified to make a diagnosis.

I went to the doctor. I needed to have specific tests done, because my
ethnicity is prone to very specific genetic defects in children. My wife and I
needed to know if we had the appropriate markers and if precautions should be
taken. I was quoted $3000 per person. That would be $6000 for myself and my
wife.

23andme does those same tests and more, for $100 each. On top of that, our
doctor is willing to use their results and add it to our medical records.

Again, who declared you or anyone, fit to determine which information I'm
privy to and how I go about retrieving it?

~~~
sixcorners
> you still have no business dictating to others what they can and cannot do,
> simply because you consider yourself to be more learned and qualified to
> make a diagnosis.

You cannot lie to the consumer about your product.

~~~
maratd
Who lied? 23andme is a social network with a twist. They are not pretending to
be your doctor. In fact, they make you read various disclosures that reinforce
that self-obvious fact.

~~~
sixcorners
I was responding specifically to the claim that "you still have no business
dictating to others what they can and cannot do." As far as 23andme is
concerned, if they are not making any medical claims then they should have
nothing to worry about. The linked to article linked to another article that
said as much.

------
carbocation
Should you be able to have access to your genome? Emphatically yes. If you can
pay a company the cost to sequence it for you, you should be able to get your
hands on the 3.2 billion basepair sequence of your genome in As, Cs, Ts, and
Gs.

Should private companies be allowed to sell you medical interpretations about
said genome _ad lib_? I think that this is where the case for regulation
shines.

~~~
prat
If they were just sequencing your genome, that wouldn't be a problem, but they
are giving you medical advice, they are telling you about diseases that you
might get (without solid scientific basis) and they are or might direct you
towards one drug vs. another depending on which pharma company they
collaborate with

~~~
carbocation
I'm disentangling these two issues intentionally. While the companies that
have been offering paid genotyping services to the public have also been
making, e.g., risk prediction from this data, it doesn't _have_ to be this
way.

I'm suggesting where I think the regulatory hurdle should be placed.

~~~
prat
sure - its the predicting thats causing the alarm, check this out..
<http://www.gao.gov/products/GAO-10-847T>

~~~
carbocation
My lab is a human cardiovascular genetics lab, so I'm familiar with these
issues and I am also concerned. I read that report when it came out and was
not in the least bit surprised.

I stand by my suggestion to disentangle concerns with giving someone their
sequence (no concern--it's THEIR sequence!) from the concerns about companies
offering quasi-medical services based on that sequence. The latter issue is
perhaps analogous to practicing medicine without a license, although that is
admittedly a _bit_ of an overstatement since they're generally making
predictions, not diagnoses. At any rate, the companies' behaviors are
concerning.

~~~
nitrogen
With no disrespect intended to the doctors and researchers who comprise the
medical field, I find it interesting that those closest to the field show the
most concern over interpretation of sequencing results. As an educated medical
layperson, I still believe that companies like 23andMe should be able to offer
statistical interpretation of sequencing data. At the most, I could accept a
required disclaimer, but it is a statistical fact that certain studies have
associated certain SNPs with certain conditions, and I should have as much of
a right to know those facts as I do to read the raw sequence of my DNA.

~~~
carbocation
> _With no disrespect intended to the doctors and researchers who comprise the
> medical field, I find it interesting that those closest to the field show
> the most concern over interpretation of sequencing results._

That's not disrespectful at all. In fact, it's to be expected that those who
are closest to a technique are the most familiar with its pitfalls.

> _it is a statistical fact that certain studies have associated certain SNPs
> with certain conditions_

Sort of, but that's not as relevant as you seem to think. The SNP reported in
each study is not generally presumed to be the causal SNP; it's just tagging
the causal SNP. For any particular person, it is possible that recombination
occurred between the tagged and causal SNPs, interrupting the haplotype.

Even if we assume that sort of thing doesn't happen (which, most of the time,
it won't), we're still talking about odds ratios of at most (for lipids) 1.3.
That type of minimal increase in risk _extremely_ difficult to convey. In
fact, in medical practice, it often wouldn't even be worth reporting
(depending on, e.g., background prevalence of disease).

So really, I think that issues are more complex and subtle than one might
gather from reading your post. Should you have the right to get your genome
sequence? Yes. Should you have the right to read the published literature?
Yes. Does a company have the right to interpret that literature as a quasi-
medical service? Again, this is the place where regulation makes sense.

------
mbreese
The problem isn't in giving people access to their genetic code, it's in the
interpretation. If you don't do this right, then you can cause severe distress
to someone.

What if a company errantly told you that you had the mutation that causes
Huntington's? That would cause severe emotional distress.

What if they told you that you had a lower than average risk for heart
disease? Then based on that information, you eat lots of fatty foods for
years, relying on your genetics to save you and you end up having a heart
attack because of it.

I know this isn't popular, but at this point, there just isn't a good way to
offer these services without the input from a medical professional/genetic
counselor. People need to have access to their own data/test results, but the
delivery of the results and interpretations definitely needs to be regulated.
I don't think that regulation would be the death of the personal genomics
industry - it would just mean some new rules to play by.

~~~
zcid
Let's say you check your blood pressure at a machine available in a grocery
store. Should the store be held responsible based on your interpretation of
the results? Or if you use a blood glucose test? Or a thermometer? Or any
other device used for home medical treatment?

These companies aren't dispensing medical advice. They are simply providing a
service that decodes your personal genetic sequence and allows you access to
that information. Why should I need to jump through hoops to have access to
the ONE thing in the world that is provably and irrevocably mine?

Also, no matter how hard you try, you can't regulate intelligence. In 1000
years, stupid people will still be doing stupid shit.

~~~
mbreese
Can you tell me which is the mutation for huntingon's? If not, someone is
going to have to tell you where it is and what the 'bad' genotype is. That
interaction should be regulated.

I'm all for people having access to their data, but blood pressure is an easy
concept for people to get their heads around. Interpreting it isn't hard. And
we've been using it clinically for close to 100 years. Genotypes are
different. You don't ask people to read and ECG. Sure, you can see it, and you
can have a doctor explain to you what it means. That doesn't mean you should
be able to go to a drug store, hook yourself up to electrodes, and decide that
you don't have an arrhythmia.

~~~
zcid
Mutations and known sequences are factual, unchanging pieces of knowledge that
I could research and check against my own sequence information if I had the
time and desire. So, why not allow me to pay someone else to do it
automatically. There is no medical interpretation being made. Matching
sequences is a completely objective process. If I want a medical
professional's interpretation of the results, I can go see my doctor with my
sequencing.

Dispensing medical advice without a license is already a heavily policed
offense. We don't need more redundant laws on the books.

------
Nate75Sanders
The context here is completely medical, it seems, but there are other issues
as well:

Imagine an database where you could voluntarily, anonymously upload your
genome to find relatives, lost parent-child connections, etc. I think this is
also grounds for allowing people to have control of their genome and it
doesn't require medical knowledge -- just a 3rd party company who can use a
well-known algorithm (I'm assuming there is one) to say how closely you match
someone else and what this likely means (same lineage, sibling, parent, etc).

Related to this, I really wonder what life is going to be like in this new
world we're heading into where there is going to a large increase in the
number of children and parents who find out that the children aren't the
offspring of their live-in father. There are a lot of social implications of
this.

~~~
yummyfajitas
_I really wonder what life is going to be like in this new world we're heading
into where there is going to a large increase in the number of children and
parents who find out that the children aren't the offspring of their live-in
father._

Related to this, see Robin Hanson's call for mandatory paternity testing.

[http://www.overcomingbias.com/2009/11/require-baby-
paternity...](http://www.overcomingbias.com/2009/11/require-baby-paternity-
test.html)

------
gourneau
Whoa, thanks for sharing. Below is my rhetoric

\--

I am very excited about the transformation DNA sequencing technology is going
to unleash. So much so, that I quit a job at NASA to be at a company pushing
forward the DNA frontier.

I am deeply concerned that a measure such as this one will stagnate this
burgeoning field. To prohibit the access of this DNA information, and restrict
the interpretation to a few is criminal. This information is our birthright.

Science has to be open, to attempt to cage it could have repercussions so
devastating that they are now hard to imagine.

The internet is a fantastic analogy. The internet succeeded because it was
open, it flourishes now because the openness allowed others to build on it,
and that openness has infected every part of our society for the better.
Almost 18 years ago to the day CERN gave the web to the world. I ask you to
consider the changes that emerged from that pivotal event.

What a treasure the world would be missing if the net had been restricted to
the Physicist using it tucked away deep underground in particle accelerators.

Don't cage our DNA, don't bury our chances to for a brighter future.

------
amalcon
Lots of style; not a lot of substance. The sublink describing the
congressional hearing did not indicate that there was an actual proposal to
restrict "direct access to your own genome". The regulation seems aimed at
medical interpretations of such. Access to an interpretation is "indirect
access" in any sensible interpretation.

Now, I'm of mixed opinions about what should be done in that regard. It would
depend on just what sort of regulation. It only makes sense that (for example)
HIPAA be enforced on these guys if it's not already. It probably makes sense
to require that they have at least a few licensed M.D.'s on staff.

It could make sense to require that the results be available in a standard
form, in case the consumer wishes to consult a doctor about them. It might
make sense to require explanations and citations of primary sources in that
standard form. It probably does not make sense to require that a doctor
personally deliver said results, but I'm not 100% sold even there.

------
prat
Here is a nature paper (for those who can access) discussing the state of
Direct-to-Consumer companies in personal genomics "An agenda for personalized
medicine"

[http://www.nature.com/nature/journal/v461/n7265/full/461724a...](http://www.nature.com/nature/journal/v461/n7265/full/461724a.html)

------
siganakis
The scans that that companies like 23andme complete are for common SNPs
(single nucleotide polymorphisms), not full DNA sequencing, which is much
cheaper but provides only a sample of your genotype.

Research scientists use the same technology to conduct GWA studies (Genome
Wide Association), which seek to determine if these SNP's are associated with
a disease phenotype across a population. These studies typically find one or
two SNP's that are associated with a disease (e.g. Breast Cancer, Diabetes,
Macular degeneration, etc), but with extremely small odds ratios. These
studies help narrow down possible genetic areas of interest for other
researchers.

As they are population based studies, they are of no use clinically at all. As
one of the first people to document the GWA study methodology put it:

"Patients inquiring about genomewide association testing should be advised
that at present the results of such testing have no value in predicting risk
and are not clinically directive." ~ Teri A. Manolio. Genomewide association
studies and assessment of the risk of disease. The New England Journal of
Medicine, 363(2):166–176, July 2010

The trouble is that companies like 23andme tell their clients that because
they have a particular SNP, they are likely to get a disease which is
extremely disingenuous. They do this by reporting the odds ratio found by a
GWA study as their personal odds ratio of getting a disease. The research they
use to make their findings is not applicable to single cases yet they claim it
is. This leads to stress in clients and then ties up medical resources better
spent chasing actual disease, rather than phantoms.

I'm all for open access to genetic data, but the current crop of consumer
genetic companies are pedalling fear rather than open information, and
probably deserve to be regulated.

~~~
wcoenen
_As they are population based studies, they are of no use clinically at all_

Why not? Are you saying that population based studies are meaningless unless
the study includes the individual we are interested in?

 _They do this by reporting the odds ratio found by a GWA study as their
personal odds ratio of getting a disease_

And isn't that correct, given only the information about SNPs? How else would
you define a "personal odds ratio"?

------
killerswan
My submission:

Given that our genetic code, in DNA, is in every cell of our bodies and is
spread all over everywhere we go and everything we touch, it is nearly public
information.

Any attempt to limit my own access to my own code, or to prevent me performing
an independent analysis of my own code (the recipe of me!) should be carefully
considered. This DNA info will completely revolutionize medicine. You must
protect the future: make it easy for a person to access their own DNA!

I understand that there may be fears that malicious or erroneous analyses will
be performed by quacks and snake-oil-salesmen, and that individual people will
be better served by accurate information.

The software industry, however, has demonstrated repeatedly that the most
qualified and competent work is often done by those without a multi-billion-
dollar empire. The startup, like Microsoft, Apple, or Google each was once,
should NOT be too restrained. And the academic or hobby project, like Linux,
should not be prohibited: such "amateurs" have shown repeatedly that they can
collaboratively deliver superb quality.

Accurate information about our DNA will be important enough that the public
WILL educate itself. We should encourage competition amongst those who want to
build the future! Do not limit access to DNA!

------
ShabbyDoo
I am a 23AndMe customer and got an update notice of new findings a few months
back. One genetic marker indicated that I might be 10x more likely than
average to have Selective IgA Deficiency:

[http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_defi...](http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency)

Since college, I have had several serious infections which, when considered
individually, are within the realm of random possibility. Pneumonia as a
college freshman, an infection post wisdom teeth removal at age 23, several
root canals, etc. However, when considered as a group, the existence of some
underlying issue seems likely. My primary care physician ordered a screening
test. Unfortunately, it came back negative. I was disappointed because, with
such an explanation, I would have a greater understanding of how to take
precautions in the future (proactive antibiotics before dental work, etc.).

------
zmmmmm
I believe that in the future we will learn an order of magnitude more from
"crowd sourced" medical information than we do from controlled studies.
Ultimately it's not about medicine or even science at all - it's about the
fact that individuals are by far the most motivated, interested and observant
managers of their own health and once empowered with data and tools amazing
and unexpected discoveries will happen. However none of this works if the
source genetic information isn't available.

I sincerely hope that the FDA doesn't cut this potential future off at its
roots.

------
geuis
This was my comment.

I am a 31 year old American citizen. As a free man of able body and sound
mind, it is not the place nor the responsibility for any other person to
restrict my access to the knowledge of my own genetics.

There is fundamentally no more personal or basic information about a human
being than the very structure of their fabric.

If I choose to hire a company or specialist to sequence my DNA, that
information belongs to me, because it _is_ me. There is no distinction between
the combination of genes that makes a man and the man himself.

Keep these facts in mind, because they effect all of us, including those of
you who may read this.

~~~
MichaelGG
So there's no distinction between identical twins?

Genes provide a recipe to create a human, but that interpretation is heavily
dependent upon environment (both initial biological as well as how that "man"
grew up). So, there definitely is a distinction.

Just watch your rhetoric as it could cause people to throw out your entire
argument.

~~~
geuis
Excuse me? What rhetoric? And exactly how do you throw out what is not an
argument, but a statement of fact.

I own the stuff I am made of, because I own myself as a person. The stuff I am
made of is an informational pattern bound up in matter. What I own, and what I
am, is that pattern. And while matter is organized by that pattern (i.e. after
I eat something) I own that matter, too. Before that matter becomes a part of
my being, it can be part of someone or something else's form.

If I had an identical twin, then he would own the informational pattern that
shapes him. What does it matter if _his_ pattern and _my_ pattern are
identical? Haven't you ever owned a CD or a game that someone else also owned
a copy of?

This is not some philosophical debate. Its not a debate at all. Its the
simple, basic, utter truth of how life bio-mechanically exists on Earth.

~~~
VladRussian
>I own the stuff I am made of, because I own myself as a person.

buyers of CD/DVD/iPhones/etc... also thought they "owned". At least they had
some idea about their fair use rights. That ideas were severely adjusted by
the army of lawyers and DMCA.

Wait a bit and the new "genetic DMCA" will make it clear that you get a
"limited use license" for your genetic material and the biomass you're
composed of. Any circumvention or modifications will be prohibited, until they
licensed from the genetic iTunes or from whatever will take its place. It is
really hilarious to imagine your screams about fair rights use for your body
and genetic info :)

~~~
geuis
That's actually a very interesting and scary point. What we have to do now,
and is the original point of the article, is to make sure that no one is able
to say that we somehow _don't_ have the rights to our own genetic material.

~~~
VladRussian
>no one is able to say that we somehow don't have the rights to our own
genetic material.

the genetic code is a code executed on biocomputer. You mother and father
created the code by merging copies of their own codes (and the IVF clinic may
have done some bug fixing). Did the mother and father have the rights to do
so, ie. to copy and modify? For example, it is frequent case in the dog
breeding that you can have this nice puppy, yet you wouldn't have the rights
to breed him, i.e you get a "license to use" and not a license to produce
modified copies. It is easy to see that the same logic easily applies to
humans as well. Lets say some designer produced a very popular eye color DNA
alteration. You bought it for your future child. Would it come with perpetual
license, ie. right to pass it to your grandkids or not? (or, God forbid, your
child when grown let his/her friends to copy the code for their children :)
The answer by Monsanto is clear and is completely in line with legal copyright
framework.

------
nazgulnarsil
the AMA and FDA fucking kill people. never forget that.

------
prat
By the way, it helps to atleast read what scientists found out about these
reports before we build the whole discussion just on ideology
<http://www.gao.gov/products/GAO-10-847T>

~~~
Zak
I'm not sure that it does if the argument is ideological in nature. I'll give
an example:

I believe hate speech and racist propaganda are examples of free speech
protected by the Constitution in the US. I believe that it is wrong for
governments to violate this right even if they don't enumerate it in the core
of their system of laws. A sociological study showing clear and convincing
evidence that hate speech and racist propaganda have bad results won't change
my opinion that they're free speech that no government has a right to prevent.

I believe that no government has a right to prevent people from having medical
tests done on themselves. The scope of any regulation must be limited to
ensuring that labs collect specimens safely, conduct tests accurately and
refrain from making false claims about the services they offer. If they _are_
making false claims about what the test results mean, then existing consumer
protection laws already apply.

