Life of a Clinical Geneticist: Dealing Often With Heartless Bureaucracy

Recently I got a glimpse of life as a clinical geneticist when I spoke with Dr. Tom Morgan from Vanderbilt University School of Medicine. So many of us across the industry are excited about the many advancements and the potential genomics has to offer in the clinic, yet when one works in the clinical setting the applications of clinical genomics, which are highly appreciated, are still hindered by many factors that we need to hear and know about so that we as a community can help overcome the challenges clinical genomics is still facing.

Tom in his role as Associate Professor is the ordering clinician of genetic tests which includes gene panels and exome sequencing tests for rare disease diagnosis. Prior to his role as clinical geneticist, Tom worked at Novartis as Head of Human Disease Genetics. Tom is also part of the Undiagnosed Diseases Network (UDN) – specifically, the NIH sponsored mystery diagnosis program – and in that capacity he also does some disease data analysis.

Tom spends about 80% of his time in the clinic and typically sees up to 12 patients a day – his patients are predominantly children, a mixture of new and returning visits. The children seen by the clinic often have a genetic syndrome or a biochemical disease and as such can get very sick. Tom also rotates through the call system which means every six weeks he takes calls for inpatient care services from parents or patients who call with acute or urgent issues. These inpatient care calls can take a long time, up to an hour or more, and they often result in the child – with an underlying biochemical disorder – being admitted to the emergency department. Once they are admitted Tom will work with the patient, write a consultation report, and co-manage the patient with the general pediatrics team throughout the entire hospital stay. Being on call means not only being the first point of contact for any physician or patient out there who needs to talk about a genetic or biochemical genetic issue, but also to actually do the work of taking care of these patients and attending to any special needs they may have.

Disclaimer:  Anything that Tom Morgan discussed in this interview does not necessarily reflect the opinions of his employer. It reflects his personal opinions only.

Following is a summary of my discussion with Tom.  While the value of genetic testing is indisputable and accepted throughout the clinical genetics community, and more and more understood by the patient community, getting testing approved by insurance is now the biggest hurdle a clinician is facing these days. Our discussion focused on the challenges clinical geneticists encounter when working through the process of getting a genetic test approved for the purpose of clinical diagnosis.

The novelty of genetic testing is wearing off

It is not difficult to get patients interested in proceeding with genetic testing if necessary for diagnosis, with the understanding that it could improve their outcome if a diagnosis is established. Overall our patients (and parents of the patients) have a pretty good understanding of what to expect from these types of tests. The novelty of genetic testing is starting to wear off a bit. Even in the general public, they do not react the same way compared to a few years ago when genetic testing was brand new and we needed to educate patients about the value of testing and the meaning of genetic findings.

“The public seems to be more educated now about genetics and genetic testing with its purpose and value.”

Insurance companies are not trained to trust and therefore resist what the doctor is saying

It all starts when ordering a test and trying to get insurance approval. For a physician the entire process of working with insurance companies is very cumbersome and convoluted.  Unfortunately, it seems that insurance companies are trained to take down the information and then pass it onto a third party which then tries to analyze what the doctor wrote in a highly bureaucratic and litigious way to check it against the patient’s benefits package. The result is simply issuing a denial which triggers a ludicrously complex appeals process, instead of having a dialogue with the physician. The end of this long arduous, frustrating process is for the physician to finally get the “peer to peer” opportunity where one can actually talk to a fellow physician and explain why one needs the test and how it is going to change the patient’s management. My past experience shows that if I ever get to that point, it gets approved because why else would I be ordering the test! From my perspective and experience I am obviously ordering the tests correctly, as my denial rate on appeal is practically nil.

“What is missing is an easy, reasonable way for the doctor to communicate with the insurer so that the insurer can understand.”

It seems that insurance companies truly are abandoning parents of sick children in their time of greatest need when they make it very difficult to get appropriate genetic testing coverage. As a result it is often expedient for the parents to just give up on the insurance provider all together and simply pay out of pocket, which is what most of them nowadays do!

The physician-patient dyad becomes complicated with outside laboratories and insurance companies interfering

Going through the entire process of genetic test ordering and approval is the challenging part! When patients agree to a self-payment model for genetic testing, it is a highly satisfying experience for both the doctor and the patient alike. That same experience is anything but satisfying when additional parties are brought into the doctor-patient relationship! What should be a simple two party negotiation becomes very complicated when the doctor-patient dyad is dealing with the outside testing laboratory, the health care system in which the physician works, and an insurance company, which potentially may also have subcontractors for medical appropriateness determination. That is nothing but a huge snarl of bureaucracy and it is terrible for everyone involved!

“Invitae is a real innovator when it comes to simplifying transactions for both doctors and patients.”

The cost for a genetic test panel is really not that much – it is only $250 when for example ordered through Invitae. Invitae is a real innovator when it comes to simplifying transactions for both doctors and patients – they are doing the right thing for the patient. I would like to state that I have no connection to Invitae and I have no conflict of interest with respect to that. It is simply a system that I use. For $250 you can get any gene panel (not exome sequencing) that Invitae offers. Exome sequencing costs $1,250 for the patient only – does not include sequencing the parents of the patient. Including both parents doubles the exome sequencing cost to $2,500.

In my experience, parents that have the means are willing to pay for these types of services. They are not happy to pay, but they are willing to pay. The alternative would be to go through a horrendous bureaucratic ordeal where the ordering institution raises the price, the laboratory raises the price trying to cope with the insurer who is trying to undercut the price too much. Then the patient winds up with a copay at the end of all this. It is simply too much to bear in terms of communication, paperwork, the coping with inappropriate denials, and then appealing those denials, and asserting rights. It is the most convoluted process possible!

The application and appeals process can take up to 60 days, a downright abusive process

The application and appeals process seems very abusive on the part of the insurance companies and it seems designed to be abusive. We are talking about a $250 out-of-pocket test. Yet, the amount of physician effort and energy that goes into it when considering it from a standpoint of billable hours is absurd! The physician and the institution employing the physician wind up spending five or six times that amount just to get a test approved.

“Insurance companies have created a barrier that is so insurmountable – it leaves the impression that they will simply save money by abandoning the patient in their time of need.”

One has the choice to either get the test back in a timely fashion for a manageable price (for most middle class and above families), or one could take on this crusade against an absolutely heartless bureaucracy while you are trying to cope with a child who may be sick, or may have multiple medical problems. If one is willing to simply pay the $250 out of pocket it is going to take only ten to 21 days to get the test results back. So when faced with that choice, it is clear to most people to just pay the test cost out of pocket. Insurance companies have created a barrier that is so insurmountable – it leaves the impression that they will simply save money by abandoning the patient in their time of need. The parents/patients believe in the value of testing or else they would not take out their credit cards to get it done. The doctors believe in it as well.

“Insurance companies have failed to be partners in the care of patients – they are too remote, and there are too few individuals at the insurance company who could understand what the physician is trying to communicate.”

It seems impossible to reach subject matter specialists without going through multiple lines of people who have no training whatsoever in genetics. In situations when you can get in touch with a genetic counselor on the benefits management system’s side after an initial denial it can work really well, but that is not often the case. I believe that every insurance company is fully aware of the fact that the system is completely stacked against the physician and patient!

Reference testing laboratories, like Invitae, GeneDx, and Prevention Genetics act as true partners

Invitae like many other reference laboratories do have options for “benefits investigations”, which means they will deal with the insurance company approval through their internal process for the genetic testing service they offer. In other words, these reference labs – like Invitae, GeneDx, or Prevention Genetics – act as true partners that I consider being on my team and the patient’s team. They are willing to be our allies in the quest to get the genetic answer and coverage from insurers. Some patients elect to do that. There is still the issue though that these things can go on ad infinitum, especially when it comes to something like an exome sequencing test. Furthermore, one cannot get the self-paid price if going through the “benefits investigation” process. One ends up paying much more, even more than if the test is going through the reference laboratory, because there is a markup reflected in the final test price. Hence, there are pros and cons to this approach.

When the physician and patient send the test directly to the vendor, we are able to eject the interlopers out of the equation. It ends up being a very satisfactory process. On the other hand, when one has to go through a four or five party negotiation process about a single test – each and every test in fact – it is a completely inefficient process. Taking this process can still take 60 days (or far longer) to get the approval or a denial. If you talk to the reference laboratory benefits investigation specialists, who are often genetic counselors or of similar background, the first thing they’ll tell you is that it all depends on the insurance company as they are all different. And the insurance company pays its full time equivalents to erect barriers designed to block ostensibly inappropriate genetic testing.  But the truth is that genetic test underutilization, not overutilization, is the major problem: delay in rare disease diagnosis is all too commonplace.

“The various laboratories, like Invitae, do now have to employ full time hires to interact with insurance companies.”

There is absolutely no consistency whatsoever in the application of so-called evidence-based principles

These principles are a laughingstock because they are not at all based on evidence except in a few narrow high volume tests. For hereditary breast and ovarian cancer, for example, we have a whole set of criteria. While, when you are testing for something very rare, like an extremely rare “syndrome X,” insurance companies are going to pit their clinical wisdom – and they’re not physicians or geneticists – against the clinical wisdom of the ordering physician.  

Reference laboratories, like Invitae, simply want to do the right thing for the patient by making genetic testing economically accessible and letting volume make up for any shortfalls in revenue

They want to create value for doctors and patients using other mechanisms such as entirely free testing for disorders that are pivotal or critical for a diagnosis to be made, such as for spinal muscular atrophy. This allows a patient who does not have the financial resources or sufficient insurance to always get tested. This is even more important now that there is a treatment available for spinal muscular atrophy. This means, as a physician, you have to find the right patient access program for which the patient will qualify for free testing.

In the private sector, the way these types of tests are getting funded is often through partnerships with pharmaceutical companies. They are divorced from the patient’s personal data, so privacy is protected, but because there is a life-saving therapy for patients available it creates a community of interest. When breakthrough therapy becomes available, it gets quickly approved by the FDA. It often creates a public health emergency because doctors are not used to diagnosing the disorder that quickly. Even when they tried to diagnose it quickly, the system is too slow to appropriately make sure the patient gets the diagnosis and gets access to a safe and effective therapy as quickly as possible. In the case of spinal muscular atrophy, they do not have to wait for test approval while suffering ongoing, irreversible death of motor neurons in their spine.

When new therapies or gene therapies like spinal muscular atrophy become available, it is particularly bad to miss a diagnosis. In my eyes, …

“…as soon as a new treatment becomes available the entire medical community should rapidly pivot, because the patient deserves a rapid diagnosis and rapid access to information that would allow them to make an informed decision about whether or not to start the new medication if they have a rare disease.”

Insurance companies do not have the ability to make fine distinctions among the various genetic tests available on the market

There are too many different clinical scenarios of different patients at different ages with different presentations to know which one is a “fire drill” and which one is a 60-day ordeal of endless arguing whether or not to approve a specific test. My unfortunate experience is that insurance companies often refuse to listen. Furthermore, there is no single hotline to call at any insurance company to speak to one of their medical directors or a peer physician. Physicians have only access to poorly trained call center representatives which create this maximal barrier for a physician to ever be able to talk with someone who has the authority to make an exception to the rule. In my eyes, they are focusing on trivial things like my tax ID number, my national provider identification number, my DEA number, my office address, etc. I have done this over and over again. I usually end up having these 45 minutes or hour long calls with a call person that does not result in anything. Interestingly, once you get a chance to talk to a person with a medical license, who is at the corporate executive level and who can say “yes” to approvals, the response is quickly: “yes, we did not think about patients with that specific rare disorder when we initially denied approval.” But, it seems that these individuals are put in an inner circle and protected by concentric circles of obstructionist bureaucracy.

“The kind of people who can understand the nuances of patient care are very expensive and they are a scarce resource within the insurance world.”

When you have infinite time to make a diagnosis in a stable patient, who may or may not have a genetic disorder, I suppose it is defensible. But the problem exists when the clinical pace of the physician and patient is quick. They have absolutely no answer for, “We have a sick child here who needs rapid genetic testing.” We should talk about that in the critically ill inpatient setting, especially, because that is where the true moral imperative exists.

A solution to the insurance dilemma is TRUST

Over decades of medical practice I have had very few denials on appeal. This clearly demonstrates that I know what I am doing. One could look at my record and say, “Dr. Morgan has gold standard performance and therefore we the insurance company are shifting him into a ‘TRUST Category’, the Retrospective Review Category.” To stay within the TRUST Category I cannot receive more than a certain number of retrospective denials of genetic tests over a specified period (e.g. six month). If for any reason I will get a certain number of tests denied on review, I would lose my status of “TRUST Category” annotation. For physicians like me, this would be a great motivation to perform well and make the best possible decision for my patients. Instead of timely bureaucratic approval processes they would only check up on me after the fact instead of trying to exercise prior restraint and interfere with my doctor-patient relationship. The AMA (American Medical Association) and many other organizations (over a hundred medical and physician organizations) have already demanded a “prior authorization” process reform. Unfortunately, insurers have not shown good faith in any way, shape, or form in negotiations.

It seems there is little need for them to negotiate. The politicians are ultimately to blame for this as they are the ones that put the laws in place, and they give enormous immunity to insurance companies for claims in state courts. They can act with impunity while they lobby the lawmakers who keep them shielded. The mandate that they are hearing from big and small business communities is “cut the cost, and we don’t really care how you do it”. The system that we use today is something that evolved organically over a long period of time. It is a Byzantine mess! No sapient person would design it this way today.

Organizations that are treating medical organizations with a folded-in insurance company can circumvent these issues – think Intermountain Healthcare or Kaiser Permanente

The result in these types of organizations are healthier processes and patients. I know of some geneticists who have left extremely prestigious university health systems to go to Kaiser Permanente because they do not get throttled by the ridiculous bureaucracy that the rest of us are subjected to.

The great fallacy of a centralized command and control type medicine is for them to believe they can review all my approvals with any sort of efficiency

Insurance companies don’t know the patient and they aren’t responsible for the patient. The physician is on the hook if something goes wrong, especially while we are waiting for a medical director of an insurance company to make up his/her mind. Since the insurance company has no doctor-patient relationship, they are not blamed for the patient’s outcome. It’s under whatever state law that you are practicing in. Even though the physician has no power and no authority over test authorization, the physician is still responsible, and that is just painfully unfair, especially in time sensitive situations.

 “The right way to see whether a physician is practicing medicine properly is through local peer review by your knowledgeable division director, department chair, and others who know exactly how you are practicing and what you are doing.”

Insurance companies have created an impenetrable liability shield

Insurance companies basically hide behind their contractual language that states that everything that they say goes and you, the patient, agree. What needs to happen is we need to fight the law of “bureaucratic indifference to human life.” When one acts with bureaucratic indifference to human life, fully aware that a patient cannot afford to access a medication or a pivotal, time-sensitive diagnostic test, it violates the moral-social compact with the patient at that moment. There is no ethical way we can put that responsibility on patients without financial means.

We have indigent patients or minors whose parents are acting in their best interests. They confront a price tag that is completely untenable for them. Often, the institutions, like a children’s hospital, wind up stepping in, saying, “Okay, we’re going to take another financial loss, but we have to do what is in the best interest of this child. The insurance company is refusing to pay for it, but we have to do it anyways.” And quite honestly, that is what has to be done; otherwise a minor is getting injured because he/she did not get the necessary medical care. When this happens, the insurance company might rightly be viewed as the villain! Yet, the insurance company will successfully defend itself by saying, “We didn’t tell you not to do it. We just said it’s not a covered benefit.” The question though is: “Why isn’t it a covered benefit?” The health insurers all advertise (falsely) that their primary concern is the well-being of their members.  The only right thing to do under those circumstances would have been to dispense the medication or do the testing, never mind the cost. If the physician is saying that this is an essential medication for the child, we can’t turn away the child, because otherwise the child may wind up in the emergency department. Most states have provisions for allowing a 30-day emergency supply, but not all pharmacists know that or follow that rule, and pharmacy benefits made it even worse. Clearly, we have to work in the best interest of the patient/child. If you always do that, you’ll never have a liability issue and you’ll always feel good about it. But it seems, only the doctors in the hospitals are actually following this principle.

“Right now what is happening is that most hospitals are providing massive amounts of uncompensated care.”

“Genetic testing in the inpatient setting is a really hot topic.”

This is particularly a hot topic in a situation of a critically ill pediatric inpatient with a known or suspected genetic syndrome and typically with multi-organ system dysfunction. In these types of situations, we often need to get a genetic test sent out quickly. These types of tests always go through the internal hospital laboratory because direct to vendor is not a feasible option when you are talking about an inpatient who is very sick. This may be a newborn baby with a syndrome that we don’t understand.

Now what we have all over the country are teams of people who impose utilization review on tests done on any inpatient. This is because of the Diagnosis Related Group (DRG) payment system. This classification system standardizes prospective payments to hospitals to encourage cost containment. In general, a DRG payment covers all charges associated with an inpatient stay from the time of admission to discharge and it includes any services performed by an outside provider. This means that any send-out genetic testing is going to come out of the profit margin (if there is one). Since insurers refuse to cover new technology by exceeding a DRG payment, what is paid if the patient has a complicated diagnosis like multiple congenital anomalies is strictly limited, and this stifles the introduction of new technology. The result: hospitals are forced to look at ways to stop loss so they are not operating in the red or have to shut their lights/close the doors, due to lower than required insurance payments to cover everything that needs to be covered for these children to survive. Unfortunately, insurance companies drive such a hard bargain that hospital organizations are stuck with it, and so everything that we try to do with inpatients has been subject to laboratory formulary committees.

These arose from a model called PLUGS^® (Patient-centered Laboratory Utilization Guidance Services), a non-profit laboratory stewardship collaboration that began within Seattle Children’s Hospital Department of Laboratories. This is a collaboration of genetic counselors and laboratorians – sometimes including clinical geneticists – whose role is to review and approve tests sent on inpatients and outpatients.

What happens is the physician orders a genetic test. That test is then intercepted at the laboratory level – not sent out as per the physician’s order. Next, an internal review determines whether the test requested is “medically appropriate” or not. The outcome could be: “Well, you could have ordered a more efficient, better test and here is what we propose. Would you like to order this specific test?” And then the doctor makes an informed decision which results in either accepting the choice or insisting to order the originally suggested test which could be rejected yet a second time. This is now the approach of many major US medical centers. The way it is supposed to operate is that if there is a disagreement between the laboratory formulary committee and the attending physician, in general the attending physician’s order is supposed to prevail. To address conflicts without too much friction, I highly recommend the ordering physician seek consensus with peers to equalize the power dynamics with the utilization managers.

Self-regulation through peer consultation and consensus building

My proposed model suggests that all treating physicians do their own voluntary, independent, peer review to come to a consensus of what test to select. If you have four board certified physicians independently come to a consensus that this would be the best test to order for this patient at this particular time, it lessens the imbalance of power and makes it much harder to override. Ultimately, the reason why we have to deal with these oversight panels is because physicians have failed to self-regulate effectively. If we had a perfect track record of ordering only the tests that are most appropriate, then we really would not find ourselves in this predicament. The model of consultation and consensus building is a way of self-regulation which should obviate the need for anybody else to come in and challenge all that. I believe, this could be part of a much broader solution in medicine as well.

“The individual physician-patient relationship is so under siege by massive sized organizations like insurance companies, pharmacy benefit managers, and hospital committees that it cannot survive anymore on its own.”

It is only when doctors work together can they regulate themselves and make sure that they are following best practices with the goal to reform the system.