Expanding areas of impact for clinical diagnostics and precision medicine

an interview with Jay Wohlgemuth, CMO, Quest Diagnostics

Dr. Wohlgemuth is Chief  Medical  Officer and Senior Vice President of R&D, Medical and Population Health at Quest Diagnostics. In addition to Quest’s R&D and Medical functions, Dr. Jay leads the Quest Employee Health plan and Employer Population Health Solutions business for Quest Diagnostics and is a member of the senior management team. Dr. Wohlgemuth joined Quest Diagnostics in 2009 from Genentech where he was Director, Clinical Diagnostics, ITGR (Immunology, Tissue Growth and Repair) and Global Development Team Leader for Ocrulizumab. He also served as Vice President, Research and Development at VIA Pharmaceuticals, and as Co-Founder and Chief Medical Officer for the molecular diagnostics company XDx where he was awarded Technology Pioneer 2005 at the World Economic Forum in Davos. He earned a bachelor’s degree in biology from Harvard College and a medical degree from Stanford Medical School, where he also served a fellowship in cardiovascular medicine. He is  a trustee of the Anne and Henry Zarrow Foundation, a charitable foundation focused on supporting delivering health care and social services and Chairman of the Board of Directors for the Personalized Medicine Coalition.

Quest’s research leaders publish original work in peer reviewed publications and present at medical and scientific conferences. Quest Diagnostics Health Trends™ reports, identifies, and tracks disease based on the company’s United States database. Quest also runs the largest employer biometric testing business in the US. In that spirt, we contacted Dr Wohlgemuth to address a few questions on Quest’s current areas of investment.

Q. Let’s start with a few general questions on your perspectives. Where do you see Precision Diagnostics as having the greatest impact in the clinical laboratory in current and future applications?

A. Precision medicine right now has had a major impact in cancer care through contributing valuable molecular diagnostics that help guide these therapies in cancer, and that’s where we’re currently making the largest contribution today. And that’s because of course, there are a good number of effective targeted therapies that work in the context of a specific genetic alteration within cancer.

In the future, we expect to see much broader applications of precision medicine. One of those areas is the use of pharmacogenetic testing to proactively manage medications that people take. Specifically, pharmacogenetics has been around for a while, and we’re just now getting to a place to scale a service for large populations that allow us to look across hundreds of medications and, inform on which antidepressant medication might work in an individual, for example. We could also see which medications among those hundreds should be avoided by people due to potential toxicity or lack of a therapeutic effect.

Q. One question I wanted to ask was about positioning sequencing assays in the context of the variety and types of assays that Quest offers. How do you see sequencing playing out in other therapeutic areas (beyond cancer) relative to Quest’s full portfolio?

A. Yes, we are increasingly doing genetic testing, using advanced sequencing or next generation sequencing. We’re able to do a whole exome or a whole genome type sequencing test, and we’re moving toward scaling that up, where we can ultimately carve out disease area panels over time.

For example, we just made available an immunodeficiency genetic panel to diagnose genetic disorders involving the immune  system. Other disease areas include genetics  in neurology and women’s health and endocrinology, really targeting all fields of medicine. Now it becomes much more about being expert at clinical annotation, meaning it’s less and less about sequencing and more and more about how we create disease area panels, how we interpret genetic alterations by disease area, and how well our informatics, databases and collaborations can deliver the latest in scientific knowledge to individual patients.

Q. Let’s change the topic to the more active role you mentioned about pharmacists’ role in precision medicine as a go-between for patients with doctors. I was impressed by the statistic you cited about the agreement rate by prescribing doctors for options offered by pharmacists for medicines. Has Quest introduced any programs designed to work with pharmacists in this regard?

A. We’ve seen in a large scale implementation study of pharmacogenetic testing, that when a pharmacist is involved with helping the patient understand what the genetics mean and decide with the patient on which medicines might be changed, and then reach out to the physician office, the physicians in that study agreed with those recommendations and made the changes 96% of the time.

We’ve learned that it makes a lot of sense to have a pharmacist working with the patient at the level of more than 300 drugs, the use of which are impacted by many mutations, as opposed to being the job of the physician. I don’t think it’s the best use of time and resources to teach physicians in medical school about the >300 (and growing!) medicines and which mutations impact them. We have computers that do that, right?

In this model, we have a pharmacist working out the implications of the genetics on the drug regimen, which is what they’re trained to do. Then you also can give a patient the attention they need. And by the way, when that’s happening, that same pharmacist can also do a full medication review and look at and counsel the patient across all of their needs, irrespective of genetics.

We think this is a great model for being able to scale up and really get the value out of pharmacogenetic testing in large populations and at the individual level. It’s been a missing piece from previous efforts to implement pharmacogenetics. And pharmacists love it because this is an important area for which they can use their skill sets, including interacting with patients. I’m seeing a lot of pharmacists get jazzed up about pharmacogenetics and that makes sense given the value they can bring to patients and the healthcare system through this approach.

Q. One of the important things that could come out of this relationship between the doctors and the pharmacists is the data. Not just of the medical side, but also the interaction, the interplay and how decisions are made. Is there a way for Quest to set up a data pipeline to capture some of those exchanges to drive value in the healthcare system?

A. Yes, this is a critical component of an effective pharmacogenomics program. We make sure that the resulting data finds its way into EMRs and provider systems, to ensure that the pharmacogenetic change implications are in the record and are there for future use. Eventually, we’ll reach a point where we no longer think of pharmacogenetics as a test for one gene, for one drug. You find a person that might benefit now, and in the future. You do it once and then that data stays with him or her and would stay in the record to help trigger a flag in the future, for example, if they’re put on a drug that they shouldn’t be prescribed.

Q. You mentioned also that Quest has developed a pharmacogenetics program for employees. Do you anticipate expanding from the current offerings to other diagnostic type therapeutic areas? Can you describe briefly the program structure?

A. Yes, based on what we’ve seen around pharmacogenetics implementation in large populations, especially the effectiveness that we see in getting people on the right medications and giving them support around all of their medications, we have implemented an opt-in program for pharmacogenetics with our own employees. We are making the program available broadly, particularly to people who are on multiple medications already. And in fact, we do know upfront, that there are a lot of individuals on medications that have pharmacogenetic implications. We’re offering this at scale to our employees, but also to employees of other companies.

We’re doing a study around the employer pharmacogenetics implementation program to look at return on investment, improvements and changes in the medication regimens, health economics, and other outcomes. We’re conducting clinical testing and a simultaneous clinical study to look at the implementation science around it, and also expand this offer to other employers as a service.

[See: Self-Insured Employer Health Benefits Strategy  Established  a  Negative Cost Trend While Improving Performance, Steven E. Goldberg, Maren  S.  Fragala,  and Jay G. Wohlgemuth, Population Health Management, V22, pp 547 – 554, 2 Dec 2019; https://www.liebertpub.com/doi/pdf/10.1089/pop.2018.0184]

Q. And how have the employees responded? Have you seen a good response rate and good feedback?

A. We’re seeing a very high level of interest among employees around accessing this information. And it ranges from people who are on multiple medications to people who may be in that depression and anxiety realm, where there’s so much attention and need around pharmacogenetics about selecting and knowing which antidepressant works. I mean, that’s a big part of the value we see. And employees are engaging around that.

And then there are those who just want the information and understand that they’ll keep it with them for the future. And particularly at Quest as a lab company, we have a lot of people very interested. In general, we see a much broader thing happening, where individuals, employees, and consumers are really interested in engaging in their own healthcare in a way that we hadn’t seen quite as before.

Q. Are employees feeling comfortable about genetic information and the processes involved?

A. If you think about what’s happening with consumer genetics with companies like 23andMe and Ancestry, we see people engaging around their ancestry and asking about at their genetics. They now expect to receive a box at home, send back saliva in a tube, and receive back relevant, valuable genetic information of great interest to them. In the same way, we look to see them becoming comfortable with, and interested in, pharmacogenetics for overall health now and in the future.

We were slated to start in the first quarter, but our implementation has slowed down due to COVID-19. We’re collecting data on cohorts now and will be engaging and providing the testing and services during the next few months, going into the fall. We should have interesting, valuable data toward the end of this year that  we intend to publish.

Engaging employers is one of the barriers that’s being overcome. Late last year, we had  a conference sponsored by the NHGRI on employers and genetic testing that became  for us a breakthrough moment. Leading researchers and physicians realized that the way to implement genetics at scale is through employer plans. And there are many reasons for that: one is that their employers are truly incentivized. For example, I have my employees at Quest for 10 years on average, and so, I’m in a position to invest in them. I can look forward and know what my likely return is because I have my pharmacy data.

We also have a way to get it to people at scale. We invite any one of our 45,000 employees to participate and then provide the telemedicine service and the pharmacy service. That’s the key, the intermediacy of that step we talked about and how that helps with the interpretation. This isn’t outside the traditional healthcare system, it’s just a service that then helps that physician and patient. We’re pretty jazzed about it.

Q. Is this program also recognized as a health risk and mitigation assessment, so that the life insurance industry might offer rebates or discounts, or what have you for patients?

A. That’s pretty interesting. I mean, an employer as a self-insured employer can decide how they want to incent any behavior. In this case, we don’t need to incentivize because it’s really valuable for the participant to get a full genetic test and a consultation with a pharmacist. And so that’s kind of the incentive here.

I know of employer programs in smoking cessation or diabetes looking at blood sugar levels and weight gain. So those are two  things that are easy to measure. If you can get your hemoglobin A1c down below a certain level – that’s a great metric. I would pay for that because it is directly related to very bad outcomes. A similar incentive could be applied to pharmacogenetics.

Q. On COVID testing, your recent experience and your general perspective are of great interest. In this vein: what do you see in terms of say something like contact tracing and the ability to use rapid genetic testing as a diagnostic? Do you foresee sequencing playing a growing role here or just more standard assays in the meantime?

A. Two work streams are underway at Quest and in the broader research community for SARS-CoV-2 for both the host germline and the viral genetics.

On the germline / host genetics, it is very likely that there are genetic differences in how people respond – for example, there are individuals who have a bad outcome and, let’s say, a cytokine storm. I’m aware of several large efforts around the country on that. We’re participating as well.

And then on the viral side, same thing. We do have in our research labs a viral sequencing assay. Lots of folks around the world are looking at the viral sequence to understand the viral genetics of transmission, virulence and subtypes that might emerge. Maybe it is possible now that there are subtypes of virus circulating now that are meaningfully different with respect their virulence. And if they’re out there, we may not have sufficient data yet to understand that.

Both genetics of the host and virus are going to be developed over the next year to become the kind of tools we use in thesetypes of epidemics in the future. We’re going to have these things going on for a while. It’s not like this is the last time we’re going to go through this. We need an infrastructure going forward.

Q. Two powerful tools seem to have come to the fore during this outbreak– at-home testing and telemedicine as well as the synergy between these two. Could you comment on how Quest is contributing to the use of these platforms? Do you foresee these platforms having reached a sustainable point after the outbreak is controlled?

A. We have developed and obtained FDA approval for an unobserved, self-collection kit for SARS CoV-2 PCR testing. This approach is ideal in that the individual does not leave the home and there is minimal risk of transmission during the collection. This approach is empowered by telemedince services to enable test ordering, oversight and consultation with the patient / employee. But this home-based and consumer-centric care approach is not limited to SARS CoV-2 testing but is going to be a part of the new normal in healthcare in the future. It just makes clinical and economic sense to operate in this way and the COVID-19 pandemic has accelerated change in the healthcare industry.

JPM. Thank you, Jay, we greatly appreciate your perspective on these issues

Jay Wohlgemuth

See introduction to article for biographical background

 

 

Quest Diagnostics

Quest Diagnostics aspires to empower people to improve their health outcomes through information derived from the world’s largest database of clinical lab results. Quest annually serves one in three adult Americans, half the physicians and hospitals in the United States, and employs 47,000 employees. As a critical component of its innovative initiatives, Quest maintains a medical and scientific staff of more than 600 M.D.s and Ph.D.s. Quests has more than 6,600 patient access points, including phlebotomists in physician offices and more than 2,200 of our patient service centers. Logistics capabilities that support these access points include approximately 3,700 courier vehicles and 23 aircraft that collectively make tens of thousands of stops daily.