Delivering Disruptive Care : Genetic Testing and Implications on Clinical Care
A chief resident at a large academic medical center in Boston once addressed a crowd as his opening sentence during grand rounds: “Folks, we have good news and bad news. The good news is that half of what we know in medicine is wrong. The bad news is, we don’t know which half”.Physicians today are struggling to keep up with and apply all the advances in scientific knowledge to patient care. The administrative and financial burden caused due to poor understanding of disease states and manifestations of deadly conditions is overwhelming our already burdened healthcare system.
Over the next few years, physicians and society will be shocked by changes brought by new knowledge in the field of clinical genetics. The time to begin thinking about how to adopt is now. The revolution in healthcare is closer than people realize.
Progress made in the science of genetics has been great. Just a decade ago, genetic mapping technology used to be a month long process engaging several dozen individuals costing well over $1 Million per mapping. Today, you can identify most high-risk markers for a few hundred dollars or even map and analyze your entire genome for little less than $150,000. And you don’t even need to engage your doctor in this process. And with the scale of start-ups in this space and the amount of investments dedicated to this industry, this cost of mapping and processing your genome is slated to be in $1,000 or less range in 5-7 years.
Our understanding of the functions of all of these genes is also expanding. Already, over two dozen companies can test genetic data and report on physiological and mental risks. On a typical patient, these reports can be up to 50 pages long.
It is not hard to image that in a few years, virtually every person will have their sequence mapped and genetic information will be regularly used for supporting clinicians in, both diagnosing and treating patients. Clinical intervention aside, the promise of genetics is disruptive in the long run, on how we perceive people, their capabilities and how evolution shapes our physiology with consequences, good and bad. A genetic sample is no longer restricted to labs; it could be your spit, a strand of hair or your half eaten muffin. In this context, it is critical to address new challenges around privacy issues.
Land grab . . . . .
The venture capital world recognized the opportunities early on. While some companies have tangible measurable benefits, others tend to be questionable.
A number of startups in the direct-to-consumer space target customers with genetic markers that promise to deliver magical solutions and insight into their body. Consumers (though currently a small percentage) are now empowered and demand tests and/or are asking their physicians to interpret result they receive through such self initiated genetic tests. This has made the general physician population in the US upset, confused and concerned.
It is unclear if such patient reported/initiated tests should be a part of a medical record or whether they warrant clinical follow-up with reimbursable insurance claims. Most of these reports are independent iterations of what that company feels is appropriate and tends to be biased. Moreover, there is no true genotype-to-phenotypical mapping established, so it is further ambiguous as to what ought to be the preferred intervention if an anomaly is found. In our sue-happy culture, physicians often feel obligated to follow up, sometimes on their own dime.
The physician community currently establishes few recommendations for use of certain genetic tests. These are mostly in high acuity specialties like oncology, cardiology and endocrinology. The FDA has started to put warning labels on certain drugs like Warfarin and Tamoxifin recommending genetic testing before delivering the drug. Similar practices are likely to expand as medical Journals publish more and more articles recommending patients get genetic testing for specific markers (E.g. Cytochrome P450 metabolizer and gene-protein P14KA associated to HCV) prior to taking certain medications.
But, are we ready?
Virtually all agree that the promises of the new science are great, but how can this new information be applied now? Are the products being released supporting good medicine or just marketing gimmicks being used by new startups? There are conflicting schools of thought coming from myriad of knowledge bases on how we ought to perceive and treat some of these markers. There are no legislative or regulatory tools in place to accurately adjudicate the accuracy behind certain claims and there are no governing bodies that facilitate use (or misuse) or genetic tests. Physicians are not adequately trained, neither do they have much faith in the efficacy of genetic testing and we are anticipating a dearth of genetic counselors. These facts are true; both in the provider market as well we the direct-to-consumer market.
And things will only get more complicated . . .
Say you see your doctor during your annual physical and a genetic test is performed on you as a policy on standard of care for that facility. Say all your high-risk markers are in the normal acceptable range a the time the test was performed. But now, it’s a year later and there is some evidence in the knowledge base that some of those markers were mutated and are dormant until they manifest into a deadly disease some point in your life. Say you are no longer being seen at that practice. Say you are no longer covered by insurance. Say you are really old. Say you are very young. Say there is no preemptive cure available for it yet. Say we don’t know in what form with the mutation occur. With any of these scenarios, should I, the physician, contact you and tell you about it? There is no real answer here.
Say we now have the ability to cross-chart in the medical record system (a proposed solution whereby one could associate your medical record with anyone else’s, typically your family’s chart by choice) used by your practice. Say you get a genetic test and are identified as high risk for Follicular Lymphoma or Hypertrophic Cardiomyopathy – both deadly diseases. Say you, the father, is connected with your children, both in their early 20’s and late teens, in the medical record system. There is no mention of such a risk in the family history thus far. Should I tell you, the father, to communicate to your children to take steps for early screening as a preventive measure? Or should I contact your children directly? What is the accepted norm? We don’t know.
You are in your 80’s and are identified with a high-risk marker. There is nothing I can do to prevent it, because the drugs available to improve potential outcomes if the disease state were to indeed even manifest itself, will be rejected by you given your age and other pre-existing conditions. So I don’t tell you anything under the pretence that I, the physician, don’t want to discourage healthy living and degrade your quality of life – however many years you have to live. Say you are now 82 and contact Crohn’s or Huntington’s disease, both potentially fatal and painful diseases. You could have lived upto 90 or 85, it is impossible to know. But now, your quality of life has severely degraded and maybe I could have taken steps to prevent it. Should I have communicated to you and your family about the risks and benefits? What happens now if I am sued and subpoenaed to declare the tests results I performed on you and prosecuted under negligent care? Should the practice have a genetic test outcomes communication policy in place as a ‘one-size-fits-all’? The answer is, my friends . . we don’t know.
You get a test with 23AndMe, Inc (or any other D2C company out there) and come to me, your doctor, with the report asking me to perform follow-up tests as a preventive measure. I disagree with you by telling you there is currently no clinical evidence in the medical community to warrant testing for certain mutation in named markers on that report from 23AndMe. However, it so turns out that the report was right and now you, the patient is suffering for end stage renal disease – which could have been prevented. What’s the physician to do in this case? Use his own judgment, use his judgment in accordance with medical literature, order the test even if the insurance does not cover it, etc? We don’t have a handle on such scenarios.
So, what do we do?
Federal and state laws in place today represent fragmented and sometimes conflicting views of what physician should and should not be doing. Sometimes, these laws appear incomprehensible to the point where providers error on the side of worst case scenarios, thus potentially compromising medical care. It is also unclear as to what covers physicians from a litigation risk, the federal or the state law. Add to it the fact that there is no industry solution to implement any of these laws at the transactional level across systems, and thus what we have is a huge potential for a slew of unnecessary law suits brewing.
Policies should be created or adapted to recognize these new realities. Current laws are inadequate for the future that is already here. Many of the ethical scenarios do not have clear answers. In particular, where does the onus of responsibility lie – the patient or the physician, to what extent and when? The fine line(s) between medicines practiced by patient vs. the provider will be blurring. Eventually, new policies will need to address these and many other questions.
As a society, we also need to deal with huge IS system issues. Genetic tests generate petabytes of information and need tremendous computing power to process. The infrastructure needed to support an evidence based large scale genetic testing platform is enormous in terms of cost, operations and the time it takes to perfect such a system. This is a barrier for most entrants trying to do everything. Thus, service companies offering interpretation, hosting sites (data warehousing centers), common dictionary services, etc are some of the things that come to mind. However, other than being unregulated and lack of any form of standards, I am not sure how influential this piece is to wide-scale adoption. Who should (or is allowed to) store your genetic test result with what security measures are in place for how long with what levels of access control - is unclear.
The genetics revolution prompts more questions than answers, and nobody fully knows all of the implications. As this space progresses, we will all look back and realize how little we currently know.
Our understanding of the functions of all of these genes is also expanding. Already, over two dozen companies can test genetic data and report on physiological and mental risks. On a typical patient, these reports can be up to 50 pages long.
It is not hard to image that in a few years, virtually every person will have their sequence mapped and genetic information will be regularly used for supporting clinicians in, both diagnosing and treating patients. Clinical intervention aside, the promise of genetics is disruptive in the long run, on how we perceive people, their capabilities and how evolution shapes our physiology with consequences, good and bad. A genetic sample is no longer restricted to labs; it could be your spit, a strand of hair or your half eaten muffin. In this context, it is critical to address new challenges around privacy issues.
Land grab . . . . .
The venture capital world recognized the opportunities early on. While some companies have tangible measurable benefits, others tend to be questionable.
A number of startups in the direct-to-consumer space target customers with genetic markers that promise to deliver magical solutions and insight into their body. Consumers (though currently a small percentage) are now empowered and demand tests and/or are asking their physicians to interpret result they receive through such self initiated genetic tests. This has made the general physician population in the US upset, confused and concerned.
It is unclear if such patient reported/initiated tests should be a part of a medical record or whether they warrant clinical follow-up with reimbursable insurance claims. Most of these reports are independent iterations of what that company feels is appropriate and tends to be biased. Moreover, there is no true genotype-to-phenotypical mapping established, so it is further ambiguous as to what ought to be the preferred intervention if an anomaly is found. In our sue-happy culture, physicians often feel obligated to follow up, sometimes on their own dime.
The physician community currently establishes few recommendations for use of certain genetic tests. These are mostly in high acuity specialties like oncology, cardiology and endocrinology. The FDA has started to put warning labels on certain drugs like Warfarin and Tamoxifin recommending genetic testing before delivering the drug. Similar practices are likely to expand as medical Journals publish more and more articles recommending patients get genetic testing for specific markers (E.g. Cytochrome P450 metabolizer and gene-protein P14KA associated to HCV) prior to taking certain medications.
But, are we ready?
Virtually all agree that the promises of the new science are great, but how can this new information be applied now? Are the products being released supporting good medicine or just marketing gimmicks being used by new startups? There are conflicting schools of thought coming from myriad of knowledge bases on how we ought to perceive and treat some of these markers. There are no legislative or regulatory tools in place to accurately adjudicate the accuracy behind certain claims and there are no governing bodies that facilitate use (or misuse) or genetic tests. Physicians are not adequately trained, neither do they have much faith in the efficacy of genetic testing and we are anticipating a dearth of genetic counselors. These facts are true; both in the provider market as well we the direct-to-consumer market.
And things will only get more complicated . . .
Say you see your doctor during your annual physical and a genetic test is performed on you as a policy on standard of care for that facility. Say all your high-risk markers are in the normal acceptable range a the time the test was performed. But now, it’s a year later and there is some evidence in the knowledge base that some of those markers were mutated and are dormant until they manifest into a deadly disease some point in your life. Say you are no longer being seen at that practice. Say you are no longer covered by insurance. Say you are really old. Say you are very young. Say there is no preemptive cure available for it yet. Say we don’t know in what form with the mutation occur. With any of these scenarios, should I, the physician, contact you and tell you about it? There is no real answer here.
Say we now have the ability to cross-chart in the medical record system (a proposed solution whereby one could associate your medical record with anyone else’s, typically your family’s chart by choice) used by your practice. Say you get a genetic test and are identified as high risk for Follicular Lymphoma or Hypertrophic Cardiomyopathy – both deadly diseases. Say you, the father, is connected with your children, both in their early 20’s and late teens, in the medical record system. There is no mention of such a risk in the family history thus far. Should I tell you, the father, to communicate to your children to take steps for early screening as a preventive measure? Or should I contact your children directly? What is the accepted norm? We don’t know.
You are in your 80’s and are identified with a high-risk marker. There is nothing I can do to prevent it, because the drugs available to improve potential outcomes if the disease state were to indeed even manifest itself, will be rejected by you given your age and other pre-existing conditions. So I don’t tell you anything under the pretence that I, the physician, don’t want to discourage healthy living and degrade your quality of life – however many years you have to live. Say you are now 82 and contact Crohn’s or Huntington’s disease, both potentially fatal and painful diseases. You could have lived upto 90 or 85, it is impossible to know. But now, your quality of life has severely degraded and maybe I could have taken steps to prevent it. Should I have communicated to you and your family about the risks and benefits? What happens now if I am sued and subpoenaed to declare the tests results I performed on you and prosecuted under negligent care? Should the practice have a genetic test outcomes communication policy in place as a ‘one-size-fits-all’? The answer is, my friends . . we don’t know.
You get a test with 23AndMe, Inc (or any other D2C company out there) and come to me, your doctor, with the report asking me to perform follow-up tests as a preventive measure. I disagree with you by telling you there is currently no clinical evidence in the medical community to warrant testing for certain mutation in named markers on that report from 23AndMe. However, it so turns out that the report was right and now you, the patient is suffering for end stage renal disease – which could have been prevented. What’s the physician to do in this case? Use his own judgment, use his judgment in accordance with medical literature, order the test even if the insurance does not cover it, etc? We don’t have a handle on such scenarios.
So, what do we do?
Federal and state laws in place today represent fragmented and sometimes conflicting views of what physician should and should not be doing. Sometimes, these laws appear incomprehensible to the point where providers error on the side of worst case scenarios, thus potentially compromising medical care. It is also unclear as to what covers physicians from a litigation risk, the federal or the state law. Add to it the fact that there is no industry solution to implement any of these laws at the transactional level across systems, and thus what we have is a huge potential for a slew of unnecessary law suits brewing.
Policies should be created or adapted to recognize these new realities. Current laws are inadequate for the future that is already here. Many of the ethical scenarios do not have clear answers. In particular, where does the onus of responsibility lie – the patient or the physician, to what extent and when? The fine line(s) between medicines practiced by patient vs. the provider will be blurring. Eventually, new policies will need to address these and many other questions.
As a society, we also need to deal with huge IS system issues. Genetic tests generate petabytes of information and need tremendous computing power to process. The infrastructure needed to support an evidence based large scale genetic testing platform is enormous in terms of cost, operations and the time it takes to perfect such a system. This is a barrier for most entrants trying to do everything. Thus, service companies offering interpretation, hosting sites (data warehousing centers), common dictionary services, etc are some of the things that come to mind. However, other than being unregulated and lack of any form of standards, I am not sure how influential this piece is to wide-scale adoption. Who should (or is allowed to) store your genetic test result with what security measures are in place for how long with what levels of access control - is unclear.
The genetics revolution prompts more questions than answers, and nobody fully knows all of the implications. As this space progresses, we will all look back and realize how little we currently know.
Read more!
posted by Janak Joshi @ 3/27/2009 03:16:00 PM
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