Helix Health Founder Steven Murphy touts his company as the first privately funded medical practice in the US to apply genetic and genomic expertise to determine an individual’s risk of developing common chronic diseases.
The company, founded in 2007, takes referrals from primary care providers in New York City and Connecticut, and provides patients genetic healthcare services and risk stratification based on peer-reviewed models. Services offered by Helix Health include genetic testing and counseling; storing genetic materials; and genetic education for physicians.
According to Murphy, who is also an instructor at New York Medical College's Department of Cell Biology and Anatomy, Helix Health’s service is more comprehensive and personalized than what people might receive at some of the online direct-to-consumer personal genomics companies that are offering ancestry analyses and genetic risk assessments.
Patients treated at Helix Health work with a genetic counselor to complete a medical and family history survey, including a formal pedigree evaluation. Each patient meets with a geneticist for one hour to discuss opportunities for genetic testing to improve medical care, administration of medication and dietary supplements, as well as prenatal planning.
At a follow-up appointment doctors and patients finalize which tests will be sent out to laboratories for analysis. And when test results arrive, geneticists discuss them with the patient and issue recommendations. Genetic counselors are also available by phone seven days a week to answer patients' urgent questions.
Yet despite this thoroughness, there are many challenges and barriers to running a private personalized medicine practice, including cost, reimbursement, the state of the science, education, and perception.
Pharmacogenomics Reporter this week spoke with Murphy about some of these difficulties, the state of the genetic testing industry, and the challenges the physician community faces in incorporating genomics into medicine. Following is an edited transcript of the interview.
Could you give an overview of Helix Health and what you do there?
We're a medical practice. We are doctors, just like doctors at a primary care office, except that we are also geneticists. We see patients for a whole host of different things, from your standard genetics evaluations to things such as reviewing Navigenics or 23andMe reports. We have five physicians: four of them are geneticists, and one is an internist who is also trained in pharmacology. We used to have genetic counselors, but the way our system works, we only use them part-time. So, what we ended up doing was outsourcing a lot of the genetic counseling to another company, which is doing a lot of our intake evaluations. Because one of the things that is important is that you have to collect a lot of information up front ... It's not necessarily a scalable thing, unless you have people enter this information on the internet. And that's what you see some of these other companies doing now.
How is Helix Health different from some of the other personal genomics companies that are selling ancestry data and genetic risk information directly to consumers online? Do you think that doctors employed by these companies who order tests provide the same type of service as the geneticist physicians at Helix Health?
I don't know any other company nationwide that's doing the same things as Helix Health. ... I know there are executive health companies that are ... [trying] to get genetics services into their practice.
[As far as] physicians seeing a patient versus just reviewing what a patient told the genetic counselor, I think there is a difference. Actually performing a physical exam and laying your hands on a patient, establishing a relationship, is much different than serving an advisory role.
For example, there are schemes where you can order drugs online and it's not that you're just getting the drugs online without anything, there is actually a physician on the other end processing those requests. So, there is a pain medicines scam on the internet, and it turns out that it's really Viagra. So, what they have is a physician on the other end who is licensed in whatever state the dispensary is in, and [this person] just writes a zillion scripts a day ... for Viagra. The real problem there, if you don't know the medical history, is that Viagra can be dangerous for some people who are on certain medications. But that information is not collected when the doctor writes these prescriptions. So, I think to have a physician in an advisory role who says, 'Yeah, I see this intake. Alright, let's order this test,' is okay, but I think it's starting to get kind of like the Viagra example. It's not the same, because they're not prescribing a potentially dangerous medication. You can have a physician review results and you can have a physician order tests. But I think it's wisest that the physician sees the patient once through the whole process.
The problem can happen in academic centers, too, where genetic counselors see patients and they'll actually bill the insurance company as if the physician has seen the patient. That's illegal, but it's getting done at a lot of academic centers. ... The problem is fueled by the fact that genetic evaluations are not the most lucrative business. Insurance pays horribly for them, and that's why we have a fee-for-service model. The physician is so terribly busy that they use physician extenders. Normal physician extenders are physician assistants and nurse practitioners, and they actually have a license. But the genetic counselors do not. Because of that it's actually an illegal service. I think we have to be careful of how we use genetic counselors as physician extenders. I think it's okay, but the physician has to see those patients.
How do patients find out about your service at Helix Health? Could you discuss the connections you have with primary care physicians?
We have good relationships with a lot of physicians, either in the community in New York City or in the community in Greenwich, Conn. We give lectures to physicians, we provide education, we work with them hand-in-hand just like any other specialist would, like a nephrologists and cardiologist or what have you. A lot of our patients come that way. We're also working with some practices. We work with some gynecologic/oncology physicians, and we do an outreach clinic at that practice. We actively engage physicians for referrals.
Recently, we've partnered with the Avon Walk for Breast Cancer, and we're doing a lot of community outreach that way, offering our service at a discount for those participants. We do that not to make any profit. We may be break even. We know that these patients and family members are in need and they're doing something wonderful to raise money and raise awareness for the cause. ... We reach out that way and we get patients that way, too. So, that's our direct-to-patient side, and our direct-to-physician side [is] really building relationships with physicians, and I think that's where we have an advantage over a lot of the other [DTC personal genomics] companies. We are physicians talking with other physicians.
What types of tests do you offer, and how do you decide which company's tests to use, given the varying specificities and sensitivities of these products?
Luckily, for standard genetic evaluations in breast or ovarian cancer, because that's a lot of the patients we're seeing, there's only one company to do the standard BRCA testing. As you know, Myriad Genetics holds the patents on those. So that makes that simple.
For other tests, you have to have a relationship with the laboratory. One of the things that we rely on is the relationship we develop through our training of physicians. Another thing we rely on is a website called GeneTests.org. It's a really good web site that allows you to evaluate tests that are offered ... When you get into the whole SNP arena of tests that you think are worthwhile or not, we try to rely on the available evidence. Say someone comes in and wants to get their SNP chip scanned. We actually don't advise them to get testing from 23andMe and Navigenics. Although they provide a great service, the Coriell Personalized Medicine Collaborative actually offers almost the exact same thing as Navigenics does, and even a little more because it offers some pharmacogenomic analyses, but it's for free because it's a research project. We're really committed to advancing that research in a way that benefits the patient.
We have a continuity of care with those patients, we get to follow them and use that data as best as possible. Also, in full disclosure, I'm a member of [Coriell's] informed cohort oversight board, and we actually review the SNP data and decide what is medically actionable, what data to release to the patients. So this is just another way of getting access to technology without having to pay $2,500 for it.
We also have best practices when we use our cumulative knowledge. We review the literature for things that are established for standard medical practice and that are evolving, things like dosing for warfarin. We have relationships with a couple of laboratories that [have] the CLIA and the New York State certifications, and so we go through them.
Why do you think Helix Health is perhaps the only company of its kind, and what are some barriers to starting this type of a personalized medicine practice?
I'm certain there are other practices of this kind that are happening and evolving as we speak. It would be foolish of me to say that there aren't. But we are the first of its kind for several reasons. One, we're a standalone practice, and so, we're not in an academic center. That's a big difference. A lot of community doctors don't feel comfortable referring patients to academic centers because they lose their patients to the big Ivory Tower, and they'll never see them again, and this is very common. Because [we’re] working in the community, we're able to deliver community education. I think that's a driving aim of our practice at Helix Health.
I'm sure there are other practices starting to spring up now, because they see that you can survive in private practice performing personalized medicine in genetic testing. There used to be an old adage that you couldn't survive without an academic center, because you took a loss. If you do the economics of it, if you accept insurance, you actually take a loss with genetics practices and you just can't make ends meet. And that's why we chose a fee-for-service model.
The most important thing we've been able to do is recruit and retain some of the best geneticists in the country. In addition, we have a unique niche, which is internal medicine genetics. There are less than 100 internal medicine geneticists in the entire country ... and we happen to be involved with four of them. And there are more and more [internal medicine geneticists] coming our way, and we have at least another four or five that are looking to affiliate with us in other parts of the country.
Another barrier is that you have to learn the field of personalized medicine. I think personalized medicine or genomic medicine is really its own specialty. You have little sub-specialties that have genetics in them. The problem is most of the specialists and primary care providers, they don't know genetics. Whereas we understand the genetics and understand the adult medicine, so we're able to combine them.
Another barrier is that a lot of people don't want to pay the money to perform the service because they view it as a service and not as a product. ... Investors are looking for a product, and that makes it tougher to get funding to finance that sort of thing. Whereas a company like Navigenics was able to raise $25 million in their first round. That's just not our model.
How do you deal with reimbursement difficulties?
We're able to get insurance coverage for a decent amount of our testing. For the testing that is not [covered], patients will have to pay out of pocket for that. We'll write letters to their insurance companies to encourage them to pay for that. Our consultation services are much like an attorney's or an accountant's or an architect's services. We provide a professional consultation and dedicate a significant amount of time with patients. Insurance companies don't really pay according to time; they pay according to billing code. Because of that, each evaluation is billed at a little more than $100, which is far less than the value that we provide.
... We're very familiar with insurance not covering some testing. That's a big problem. It's stalling a lot of the industry and it has for the past 15 years. Part of that [is because] insurers have been slow to realize the power of predictive genetic testing. They're coming around and there are a few companies that are going to start adding personalized medicine to their guidance. I can't give you their names yet, but I know of three or four companies that are [going to do this].
Many of the newly launched personal genomics companies have maintained that everyone has a right to their genetic information, and the physician should not necessarily be the mediator in this regard. Can you envision a situation were the physician can be a barrier to people getting access to their genetic information?
I think the first barrier to getting access to genetic information is cost. I know a lot of people are not going to pay $2,500 for a SNP-chip scan. I think $2,500 is too much for that kind of testing, or for any kind of testing. The BRCA tests cost $3,000, and if your insurance isn't even going to pick them up, then that's a problem. Cost is an even bigger problem than going through a physician.
Clinical utility of a genetic test ... is an important definition you have to make. Does this test convey medical information or not? That is the legislature’s defining line in many states. The other states ask, 'Well, is this a test that could be used for medical reasons but may not be?' But my interpretation of a lot of those laws is if you're providing raw data ... without interpretation it's not technically the practice of medicine. But the moment [you] start interpreting genetic tests for health outcomes, it becomes a clinical test. And clinical tests are medicine.
If a physician orders a clinical test, they are liable for the follow-up of that test. In a roundtable that I had at the Beyond Genome conference in San Francisco, [the subject came up of] who's responsible for the follow-up of these tests. It seemed like everyone was kind of finger pointing. ... one company said that they were still working on it, while another said they have a subscription service where customers can pay more money to get follow-up of those tests.
Well, you don't have to pay more money to get follow-up for those tests. In fact, if a physician orders those tests, they are medically and legally responsible for the follow-up of those results should those results change over time. ... So, while people may say it's a barrier to have physicians involved, I think it creates a layer of legal liability. Do I think physicians are a bottleneck depriving people of clinically useful tests? I don't think so.
There are several states that offer DTC genetic testing. I think the federal government is going to change that. But for now, you can go get a sodium or a liver panel done ... but unless you're trained in medicine, it's going to be awfully tough to discern what [the test results] mean. ... What if you take these tests and you find out you have to go see a doctor? Oh, then you can go see a doctor. That just makes no sense to me. The big push in healthcare is to be involved with the physician as early as possible to help prevent disease.
Is it a fundamental right to know what your genome is? If you think it's a fundamental right to know what your genome is, then is it a fundamental right to have someone interpret what your genome means? And then the question is, ‘Is it a fundamental right to get a shoddy interpretation or is it the government's responsibility to protect the citizenry from getting shoddy recommendations?’
My opinion as a physician and a geneticist lies with the American Medical Association and the American College of Medical Genetics, which both say that this type of testing should be done by physicians. [At Helix Health,] that's our policy stance and I think it's a reasonable one.
What do you think is the best way to encourage physicians to sign on to personalized medicine and utilize genetic testing when appropriate in their practices more?
I think education of the legal risks of not providing [genetic testing], education of the benefits to the patient and the provider, and you have to teach them the language. If doctors don't speak the language then they'll miss out on the conversation that's been going on for the last 15 years now.