Heresy
Today I am going to propose an idea that some of my libertarian friends may consider heretical.
I think your DNA and the way you biologically respond to various drugs should be in the public domain.
Your identity — or the ability to connect your medical records to you personally — should not be in the public domain. In fact we should go to great lengths to make sure that researchers who have access to your medical records cannot trace them back and identify you personally under any circumstance.
Just to imagine one way of doing that, suppose there was a large database that could only be populated by doctors treating patients. Doctors would replace patients’ names and other identifying information with numbers before entering any data. In fact, the database would only accept numbers, not names. The database would be used by researchers who could see the records, but researchers could never reverse-engineer the process and connect a number back with a name — because the name was never in the database in the first place. (I suppose this would work really well in an HMO or ACO where the doctors don’t know the patients’ names anyway — only kidding — I’m not suggesting we do that.)
Before getting to why this would be a good idea, let’s deal with the issue of individual rights. “Does a patient’s genomic makeup belong to the individual, or to the greater cause?” asks writer Barbara Shelly. She cites an interview with National Institutes of Health director Francis Collins:
“Your DNA sequence is really private information and it shouldn’t be given out to other third parties without your permission,” he said. “I think basically our position is, if the DNA sequence is going to be used for research, you should be asked about whether that’s OK and it would be nice if that was given to you in some sort of tiered opportunity to say yes.”
But is that position really the right one to take?
If you were buying your own health care in a free market, I wouldn’t hesitate to say yes. In fact, in a free market providers might offer you a monetary reward to share your genomics data and you would be free to accept or decline.
Alas, we are not likely to be there any time soon. What we have instead is a system in which most people’s health insurance is heavily subsidized by the government, which means by taxpayers. In that system an important question to ask is: What can taxpayers reasonably expect in return for subsidizing your health insurance? I think one answer is: access to your data, if such access promises benefits for hundreds, thousands and maybe millions of other people.
Okay, I’ll make this concession. Turn down the government subsidy and you own your own data. Accept the subsidy and you have to share it in a way that protects your identity.
Now why is it good to have depersonalized medical data stored in a big data base?
We used to think that the way to determine whether a drug is safe and effective is to do randomized controlled trials (RCTs). One group gets the drug and another group gets a placebo and then we check to see if there is any statistically significant difference between the outcomes of the two groups. The FDA still thinks this way.
It is becoming increasingly obvious to everyone else, however, that RCTs have one major flaw. They assume that everyone in the two groups is essentially alike. But we know they’re not alike. They all have different genes. What typically happens is that in the group that receives the drug, some respond and others do not. Therefore, what scientists really want to know is whether there is some genetic difference between these two groups, not between this group as a whole and the placebo takers.
And that’s only for starters. Once we have a huge database of drugs, DNA and biological outcomes, there are all kinds of things that might be learned. As Shelly writes:
Collins spoke to the great potential of big data in medicine: “Your doctor can look at your genomic information and know if that drug is the right drug for you. Or should you have a different one or a different dose? That can be very powerful.”
But what makes genomic information powerful is a broad basis for comparison. How is your DNA sequencing similar to or different from another patient’s for whom a treatment worked or failed? The size of the database matters.
Prospects for such “personalized medicine” are growing by leaps and bounds. But as I wrote previously, this trend is the exact opposite of the philosophy of the Obama administration:
In an interview with CNN the other day former White House health adviser Ezekiel Emanuel called “personalized medicine a myth.” According to his own center’s summary of the interview:
[He] characterized excited public discussion of the potential of population-wide individual gene-based medicine as “hyperbolic.” He said tailoring medical treatments to individual characteristics of each patient is both overly optimistic and cost-prohibitive and likened the process to buying a custom-made suit versus one off the rack.
But if custom-made suits fit better and look better, what’s wrong with that? Ditto for health care. And if individualized care is better and more promising care, how does Emanuel know it would be cost-prohibitive?
Despite this view, the NIH recently started a project called “big data to knowledge,” or BD2K. Its purpose is to encourage the broad use and sharing of biomedical data sets.
This seems to me to be a worthy enterprise.
I am a libertarian and do not disagree, but look at 23andMe, they were developing a large genomic database and using it for real scientific research before the FDA decided that people shouldn’t be allowed to make the personal decision to have their genome sequenced. I’d trust Google more with it than the Government. One of the large EMR companies could generate the databases. You can simply make it a value proposition to the patient.
“Give us your DNA, we promise not to associate your name with it, but we may be able to use it to give you better treatment, save your life in the future, or save the life of someone else. And we’ll give you this spiffy 23andME style report on your DNA as well, a $100 value, free.”
Not everyone will accept the offer, but I know I would. Maybe eventually you’d get to the point where a doctor would say “I need genetic information to adequately treat my patients, and if you do not want to participate in this new area of medical science, please find another provider.” Like so many rightfully do with vaccine deniers.
In that case you get your research on a voluntary basis.
I am confused by your first statement that you are a libertarian and the use one of a very statist term “vaccine deniers” in your last statement.
Do vaccines prevent disease — obviously.
Would we go back to 19th century levels of disease if we 100% stopped vaccinating everyone — no because the difference in food and sanitation practices make a huge difference in disease burden. To deny this is to deny that washing your hands was one of the most important medical changes for physicians between the 19th and 20th century.
A second point is that over the last 40 years we have seen a large increase in allergies and immunologic sensitivity in people. This could have any number of causes, but the first one routinely dismissed is vaccination. Yet a vaccination is an antigen in solution with adjuvants to stimulate the immune system so it produces an exaggerated response to the antigen presented. It is worth investigating to see if the allergy increase is related to vaccination.
However, we live in a world where you are either a believer that vaccines are the root of all evil that mankind experiences or the savior of all mankind. We always need skeptics for our own safety.
My point is that the term “denier” is a derogatory term whether used for vaccines or global warming. It suggests an element of hubris that we know everything about a subject and could not possibly be wrong. I do not feel you can use such a term and call yourself a libertarian.
I also agree that we should not be authorizing a government DNA database, but certainly would participate in a private DNA database if the science suggested it would improve my health.
Mark Kellen, MD
Personalized medicine is an interesting concept and could likely better treat individuals with diseases such as diabetes or heart disease. Creating a dose that is designed for the individual instead of a one size fits all dose could be powerful.
It could result into an alternative for a cure for these diseases if patients get the exact dose they need to function optimally.
And if the price isn’t too outrageous.
It wouldn’t be if their health insurance was heavily subsidized.
I think I agree.
“What can taxpayers reasonably expect in return for subsidizing your health insurance? I think one answer is: access to your data, if such access promises benefits for hundreds, thousands and maybe millions of other people.”
Subsidized health care for access to genomic information is definitely an interesting trade off. However, privacy should play a big factor.
I have never really bought into the idea that my genetic information belongs to me in the same way my big toe belongs to me.
For 99.99 percent of the existence of our species, nobody would have known what we are talking about here. The information is not available to me without expert intervention. So, the expert whoo draws out the information (the DNA test) is going to be paid by someone, and the ownership of the information would seem to be part of the transaction under negotiation.
Plus, we have a problem in the U.S. that the Genetic Information Non-Discrimination Act (GINDRA) means that no health insurer can use genetic information to determine whether to cover you or not. On the other hand, you are free to get a genetic test (even if the FDA says you can’t) that gives you valuable information about your health status. This results in an asymmetry of information that contributes to anti-selection.
Population genetics would advance dramatically with this proposal. I imagine that 100 years from now, geneticists could use the database to see which mutations are under pressure for selection, and perhaps infer dominance versus genetic drift almost in real time.
To me it depends on how it’s used and what it’s worth. If it is de-identified and only valuable as a small part of aggregate data, then I don’t have a problem with it being collected. It’s sort of like how my car is part of the traffic count on the North Dallas Tollway during the morning and evening commute.
However, this discussion also brings to mind the case of Henrietta Lacks, whose cancer cells were unknowingly harvested in 1951 and commercialized. To date, more than 74,000 studies have been conducted on her cells. Her cells could do what no other cells had been able to do: thrive in a lab.
This women was poor, and her family was left without a mother when she died of cervical cancer. But people far wealthier than her from the medical establishment used her unique cells to make themselves even wealthier (they hopefully also helped humanity in the process).
So, if there is something unique about my cells or my genome that is worth a lot of money to a drug company, hospital or research facility, I would definitely want royalties. If my genome is only valuable as a small part of an aggregate data collection of millions of people, medical science can have it for free.
That reminds me: Have you paid your speeding tickets yet?
There is no speeding possible on the North Dallas Tollway during morning or evening commutes. The average speed is probably 30 mph.
Maybe you all should go back to horses, like the Texans of pioneer times?
Though sequencing might prove to be helpful in some circumstances and prove a windfall for pharmaceutical companies tailoring cures for the upwardly $equenced, I would have to agree with Mr. Emanuel that this is a highly challenging avenue to pursue.
At the current ‘minimum’ cost of $5,000 – $10,000 per single human genome sequencing, this would be just your first hurdle and again … would be health care reserved for the prosperous, much like your concierge medicine and HSAs. http://www.nature.com/news/gene-sequencing-leaves-the-laboratory-1.12454
In addition, the Herculean struggle it is taking to get ‘some’ people to even actively participate in our nation’s health care system (Mandate) will prove minor compared to asking them to surrender their genes and have ‘the man’ pry their DNA from their warm living corpuscles 😉
The level of inter-individual genetic variation (“polymorphism”)is difficult to comprehend. Nevertheless, it is becoming apparent that the number(s) of genetic variation(s) contributing to even “common” traits (e.g. height) are very high. It is thus likely that identifying therapeutically- and diagnostically-useful relationships will depend on mining very large (?comprehensive) databases. With the costs of actual sequencing falling (assuming that the data are accurate – not yet the case) search algorithms should help make the data useful. Thus, the broader the dataset the better the relationships.
Interesting, John, but rather theoretical given the high costs of obtaining the DNA sequence (as pointed out by Al).
There is, however, an intermediate and very available way to get started – require reporting of your health risk assessment and medical claims/electronic medical records. This can be used with existing technology to figure out the risk of future illness and costs. Since insurance companies are now prohibited by law from doing this, it is imperative the government take this responsibility – in the name of good government. Allow me to explain with an example.
A large aircraft company receives money from the government to build an airplane. The original price is the average price of similar airplanes, but along the way a series of blunders, irresponsible acts, and careless actions cause a massive price overrun and the airline company comes back to the government asking for more money, which is given to them.
Now – who wouldn’t object? The US federal government would not if instead of buying an airplane they were buying health insurance for an individual, at an average price, but through a series of blunders (buying junk food and not exercising, etc), irresponsible acts (binge drinking, smoking, bungee jumping, etc), and careless actions (purposely staying unhealthy and ignoring the signs of heart disease and diabetes, although repeatedly warned by family, friends, clinicians, and health plan) that person is stricken with chronic illness that was preventable, resulting in huge cost overruns.
This is not to invoke any kind of punishment for these irresponsible actions, that is a different issue. Here the issue is how best to budget for such an occurrence, and it seems obvious you would want at least some advance notice of cost overruns. Thus, reporting of health risk and the ability to understand how taxpayer money is being spent. Later we can decide if there are measures needed to improve individual accountability, but at a minimum we need to know the costs.
Some would argue the health plans who enroll the person should be in charge of this kind of information. That would seem logical if it was the money of the individual person or the health plan that was being used/misused. In this case, however, it is taxpayer money, and the government should require accountability for expenditures.
No need to sequence, just require reporting of claims and medical records. Existing predictive analytics tools can help with the rest.
“He said tailoring medical treatments to individual characteristics of each patient is both overly optimistic and cost-prohibitive and likened the process to buying a custom-made suit versus one off the rack.”
I don’t know about Emmanuel, but I used to buy all my dress clothes custom made at prices that were about the same as off the rack clothing. They fit better and lasted years longer. I don’t see such a future problem for combining genes with medical treatments. Once it is known what the genetic differences are, frequently inexpensive medication specific tests can be used and that has the potential of very large savings and improved health. I can’t believe Emmanuel’s negativity. He has proven himself to be more of an ideologue than a researcher.
Hi John:
Merely contemplating the use of DNA sequencing provides plenty of fodder for deep thought.
As I spend more and more time with organizations engaged in “population management” (ACO’s, etc.) the role of data in predicting costs and outcomes becomes clearer and clearer.
We have the means to sift large batches of data and isolate outliers. This is routinely done in sorting which providers should be in insurance networks.
Are we ready to translate that sifting to patients to determine which patients should or should not receive care?
The control and use of individual genetic information should not be linked to medico-economics, nor should it be in the hands of political or governmental agencies. One need only contemplate the developments in nano-medicine and combine it with this kind of data management, to see that the term “population management” may take on new meanings as we “progress.”
While your post addresses the pragmatic, I hope and trust that you and others are paying close attention to the ethical and moral issues underlying your suggestions.
That being said, big data is being used to track care to test best practices in large populations. Big data can and should be used to see what works best in populations with various conditions. It is thus being used to determine whether we are getting value for our investment in various treatment modalities.
Given that there is no cost-based pricing in health care, big data can drive the price-setting standards. Indeed, it has been clear to me for years that the principal reason why the government has pushed so hard on universalizing the EMR is to monitor value and set up a cost-based pricing system.
No two human beings are alike, so we need a health care system that takes human variability into account, When spreading costs, big data can inform us on how to price our care and how to anticipate that variability and deal with it.
However, the underlying premise in health care must always remain that the quantitative cannot overcome the qualitative, and that stochastics analysis and actuarial accounting cannot replace caring and compassion.
We are human, and are individuals who bond and care for others. My daughter’s first word was Dada, not data. That memory of her as an infant never fails to make me happy because of the individual bond I share with her. That kind of bonding and caring define our human experience. That individual one-on-one caring for others is exemplified in health care. The delivery of care brings out the best in human nature. It is intensely individual. Thus we can study populations, and use data analysis to predict probable outcomes, but that data cannot and will not replace the one-on-one experience. There are 600 million health care transactions each day in America. That many times, one or more people are focusing their attention on a fellow human being. That is a good thing. Now all we have to do is redesign those transactions to be more cost effective, and data should help us, not control us.
I would be most happy to continue discussing how we can use data in population management models like ACO’s and COCO’s to improve care and lower costs without sacrificing our individual identity and the quintessential compassion that characterizes great health care. Feel free to contact me at cb@patientphysicianalliance.org.
Cheers to all,
Charlie
With all due respect to the rights discussion, I think the problem is not really one of rights. Before embarking on such a project you would want to predict whether or not it would result in useful knowledge.
There are two problems, one is gene expression and the other is statistics.
The first is that knowing an individual’s genetic sequence does not predict expression. A simple example is that a man and a woman together may produce only four varieties of genetic offspring, just as flipping two coins, a penny and a nickel, will have one of four outcomes.
This means that every time a couple produces five children, at least two will have identical genetics, just like identical twins. But we have all seen families with five or more children and even accounting for age difference, there are not observable “identical twins”. The reason is that the gene expression is different under different gestational circumstances.
Interesting longitudinal studies on identical twins have shown that even there, after many years, their gene expressions will drift futher apart, after starting out very similar. (And known general risk factors, such as smoking seem to drive this even further.)
So genetics is not destiny. This is what the concept of phenotype vs. genotype means.
Second, genes interact with each other in multiple ways such that even within populations identified with identical “risky” genes, other factors will mitigate or enhance risk to such an extent that one cannot totally isolate a certain genetic profile and say with certainty what it will mean to that individual. (Or the consequences are so great, such as in Down’s syndrome, that genetic analysis adds little to what is already known.)
The nature of clinical trials is to exclude participants that have confounding factors and also to focus on a given age range. Subgroups are studied, but differences will not reach statistical significance unless the differences are large.
So you would be having to conduct huge studies to find significant differences between small subset populations, since you would be using genetics to define the subset populations rather than the usual age, sex, comorbidities, etc.
And once you have found something of significance, it is not correct to project those findings on to a population that is different than the one that was studied.
So, no matter how cheap genetic sequencing gets, and how much “big data” is collected, by the time you factor in reporting error, I doubt much more useful knowledge would result.
But that won’t stop someone from trying to do it, as long as they have access to someone else’s money.
You are talking as if every person has only two chromosomes. That is NOT the case. We have 46 chromosomes, and they can occur in any combination.
You’re right. Guilty as charged. I oversimplified to try to make a point about phenotype vs genotype without getting into histones, protamines, meiosis, haploid v diploid, promoter and suppressor genes and all of that stuff that would be in one or two semester college level course on genetics.
This is why we have bad laws and bad policy regarding complex issues. The people involved in making the policy or laws never appreciate the complexities of the situation because it takes too much time and effort to do so.
Every law or regulatory proposal will involve force, and whenever force is used there are intended and unintended outcomes. The point of my post was to say that, in this case, even the intended outcome would likely not be realized.
Like my genetics professor said: “When someone calls you a mutant, explain that we all are!”.
I’m afraid that the identity of the DNA data contributor can be hacked. Someone who has the DNA sequence for a small portion of the genome, together with the person’s name, can search for that sequence and, if there is a match, perhaps deduce the name.
John and Friends: This is an unnecessarily weighty discussion. “Knowledge will “out.” genomics is as distinct a discipline in the history of medicine as was the discovery of the causative nature of germs. It took 8i0 years for Semillweis’s discovery that less childbed fever occurred in pregnant women if doctors washed their hands between examinations. More uses of genomic diagnostics and treatment will lower the costs and set a new standard of care.
The most freightening quote in this set of comments is from Ezekiel Emmanuel, who does not yet have enough knowledge of genomics to see its curative potential. We all should be dismayed that this man, a prime architect of Obamacare, does believe in “one size fits all” for medical care; that’s why he built into the law requirements that doctors follow “standard protocols.” Heaven help any patient whose genes make him impervious to standard treatments, especially in such touchy conditions as a systemic cancer. The cost of a DNA profile, by the way, is now $1,000, not $5,000. But sequencing the whole genome is not required for personalized medicine. One looks for a particular gene segment on a particular chromosome to discover whether a particular variant of a disease like leukemis is present. There are at least 7 variations of this disease, and some are curable, while others are not. Treatment decisions are now being made with genomics in many medical centers in the US, so Emmanuel is standing behind an open door.
Now, big data is not the same thing; it can help future patients by making it possible to test drugs on the DNA archive, so clinical trials can be done in weeks or months, not in years. Kaiser has creating such a data base which they make open to any researcher. Back-tracking to identify a person with a particular gene is made impossible by the layer upon layer of administrative control between the name and the gene segment. Don’t be paranoid for nothing.
Socially speaking, the most unappealing risks in genetic testing is when the tests do put the name and the gene together on purpose, as with paternity tests, or in embryonic testing for inherited conditions. These uses will proliferate and we do need ethical guidelines on how and when to use the information.
Apparently, few people understand the very widespread use of genetic information, not even requiring testing, that can disclose racial identity, and with it, risks of particular diseases, as with the Jewish risk for Tays-Sachs Disease. Check out Ancestry.com.
Anyone who watches one of the CSI shows knows about the “little tiny tubes” that indicate that DNA testing is being done on blood, hair or some other body tissue. In fact, criminal justice has made faster and better use of genomics than any discipline, which is a pity. We all understand that a genetic profile works both ways–it can convict and it can free a person who does not have the DNA in evidence. It can also identify which children of an alcoholic are prone to also become addicts. Finding risk groups early is a very powerful way to modernize healthcare.
The public is about to learn the extraordinary cures being brought about by “stem cell” implants. Curing a cancer like that of the pancreas, or a brain tumor, or a tumor of the train is a great achievement. How to we consider the cost? On the one hand, the cost is a long series of treatments that are themselves costly, and increasingly ineffective, and a brutal death versus a course of tailored treatment with modified stem cells that leaves the patient without disease. What is that worth and who should determine that? To neglect a patient when there is the potential for cure is something that will certainly get a family’s attention. Emmanuel be damned for his ignorance, when he is in such a powerful position.
Patients should not own the DNA information that has been converted to a code. They should own it when it is being used for their care.
The military is ahead; they draw DNA on every soldier and use it to identify the dead as well as to determine courses of treatment of disease.
People who are looking backward during this adoption period risk being seen as people who have never even read Scientific American or the National Geographic.
Both angry and proud in the Silicon Valley region, the home of much of the genomics revolution. Get on the stick, you people!
Wanda J. Jones, president
New Century Healthcare Institute
San Francisco
My reaction is that this reminds me of the information which has resulted from millions of people taking the Myer-Briggs test and receiving an analysis of the data. Granted, this is a very simplistic comparison of the process, however I think the process which John is referring to must be similar. Whether or not the comparison is a good one, I think the results of M-B testing has resulted a vast amount of knowledge based on very specific individual data. Knowledge which didn’t exist in any usable form before the test. Good idea.
The “fear” of personalized medicine versus “cookbook medicines guided by the results of randomized clinical trials (RCTs) is mocked by Richard Dolinar, MD, in his presentation on he issue.
He asks the members of the audience who are over 5’8″ to raise their hands. Then he asks those who are under 5’8” to raise their hands. “Okay, that’s all we want to know about the distribution height of the sample!”
I can’t imagine why anyone would object to having their genetic makeup and its association with treatment failures or successes used in the public domain if it were not possible to personally connect it to the individual in an identifiable process. Who cares for gosh sakes? What is the downside?
Sorry, my DNA is nobody’s business but my own, anonymous or not. It BELONGS to me and God, nobody else. If they can demand access to my DNA, then I have no personal liberty left. And this isn’t just about Libertarianism. This is about natural rights.
The LAST people I want to have access to my DNA information is RESEARCHERS. They have thrown away their ethics!
I also don’t believe in taking government subsidies or even having health insurance (which costs far too much and covers treatments I refuse to use, but doesn’t cover the ones I actually use) and I object to having to pay more for health insurance so other people can live unhealthy lives and get all their poisons paid for. I object to paying for other people’s poisons. And I refuse to take poisons myself, whether they have been researched or not.
I also don’t approve of the vast majority of research being done in the name of medical science. I don’t want to be a part of that. Most of it is highly unethical.