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Science and Innovation Strategy: How New Technology, Research and Collaborations Are Leading to Enhanced Diagnostic Solutions
Jay G. Wohlgemuth, M.D.
Senior Vice President, Medical, Science and Innovation
Quest Diagnostics

Advances in science and technology are transforming the field of diagnostics, enabling new diagnostic solutions and enhancing the information provided for clinical decision-making. Quest Diagnostics is committed to harnessing these advances to enable better health. Dr. Jay Wohlgemuth outlines how the Quest Diagnostics approach to science and innovation and medical affairs is delivering value for our Diagnostic Information Services:

Holistic Solutions for Guideline-Based Patient Care
“One of the guiding principles for our development work is to deliver complete, or holistic, solutions, as opposed to individual tests,” notes Dr. Wohlgemuth. “We aim to address every piece of the puzzle to help the doctor—whether a specialist or primary care physician—follow the suggested pathway for a diagnostic work-up.”

This approach is designed to facilitate compliance with current guidelines across a wide range of clinical specialties. Over 700 MDs and PhDs at Quest Diagnostics not only guide the development of testing solutions in line with the latest recommendations, but are also available to provide guidance on the use of diagnostic testing in the work-up of different conditions.

Big Data Informs Decision-Making, Guides Public Health Initiatives
Generating meaningful information from the wealth of data at its disposal is a priority for Quest Diagnostics. “Using our population-based data, or big data if you will, plays a critical role in developing our solutions,” explains Dr. Wohlgemuth. “In allergy testing, for example, we can look at our extensive database, generated from testing across the U.S. over the last 10 years, and identify different allergens prevalent in different communities. This guides use of the most appropriate tests for each region.”

Sharing data with public and academic institutions provides valuable information for public health initiatives and increases understanding of certain conditions. “We’re sharing our national and regional data for hepatitis C detection rates with the CDC, so they can better understand the efficacy and targeting of their screening programs,” notes Dr. Wohlgemuth. The CDC and Quest Diagnostics investigators intend to present and publish this information over the coming months.

Other collaborations enable internal data to be supplemented with data from external sources. Sharing data with the Memorial Sloan Kettering Cancer Center in New York, for example, aids in the interpretation of solid tumor mutations. “In genetic sequencing it’s incredibly important to build your database with both internal and outside resources,” says Dr. Wohlgemuth. “This enables the best possible interpretation for mutations, which improves the guidance provided to the clinician about the particular mutation found.”

Read more on minimizing the rates of variants of unknown significance

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Advanced Technologies to Deliver Better Information, More Efficiently
Examples of applications enabled by new technology include the use of advanced sequencing for non-invasive prenatal testing; advanced sequencing to simultaneously detect mutations in a broad panel of cancer-associated genes that could have implications for treatment; and the use of tandem mass spectrometry for thyroglobulin measurement, to help in monitoring patients after treatment for thyroid cancer.

“Advanced technology is both enabling new applications that we could not deliver before and improving the way we can deliver existing diagnostic content,” notes Dr. Wohlgemuth. “For example, for cystic fibrosis (CF) we have just released CFVantage™, which tests for over 150 CF mutations in a single assay. Those mutations have been known for some time but now it’s possible to deliver them in an efficient way with an advanced sequencing test.”

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Alliance with UCSF Lays the Groundwork for Integrated Diagnostics
UC San Francisco and Quest Diagnostics have formed a collaboration to accelerate the translation of biomedical research into advanced diagnostics in the field of precision medicine, for improved patient care, treatment, and outcomes. The primary aim of the collaboration, which combines the research discoveries and capabilities of UCSF with the national testing database and development capability of Quest Diagnostics, is to enable holistic and integrated diagnostic solutions for improved health care.

“The collaboration will focus in particular on opportunities in precision medicine and integrated diagnostics,” notes Dr. Jay Wohlgemuth, Senior Vice President, Medical, Science and Innovation, for Quest Diagnostics. “So, to validate a diagnostic test, we will work together to integrate the laboratory testing, clinical information, imaging results - all the pieces required in the work-up – in a single diagnostic solution. The first major program of this kind is in the field of dementia, where we are planning an implementation study based on an integrated work-up. We hope to demonstrate that when you deploy such a solution in the community, and involve the primary care doctor, you improve time to diagnosis and clinical outcome while lowering the cost of healthcare.”

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Clinical Studies and Publications - Increasing Scientific Understanding
“Through our clinical studies and publications program, we aim to help advance understanding in the diagnostics field,” says Dr. Wohlgemuth. Studies are carried out, often in partnership with leading academic centers, to identify the clinical utility of different diagnostic testing solutions. Our capabilities and focus in this area are improving under the leadership of Dr. Suku Nagendran, Vice President of Medical Affairs, and Dr. Rick Pesano, Vice President of Development, Science and Innovation. Below are some recent examples:

Quest Diagnostics also mines its own extensive database to identify health trends. “We analyze billions of test results to identify trends of public interest,” notes Dr. Wohlgemuth. “These are published about twice per year as a Quest Diagnostics Health Trends™ Report. The most recent study, published in Circulation, examined the efficacy of warfarin treatment for patients with atrial fibrillation across the United States. The study revealed that half of patients with atrial fibrillation failed to maintain optimal blood clotting levels to reduce the risk of stroke or potentially dangerous hemorrhage. Conducted by researchers at Quest Diagnostics, Boston University School of Medicine, and Lenox Hill Hospital, the study was based on an analysis of results from 2.7 million tests.1

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1. Dlott JS, George RA, Huang X, et al. National assessment of warfarin anticoagulation therapy for stroke prevention in atrial fibrillation. Circulation. 2014;129:1407-1414.

Advanced Lipid Testing: How Ion Mobility Enables a more Accurate Assessment of Cardiovascular Disease Risk
Senior Academic Associate, Quest Diagnostics;
President, Cholesterol, Genetics, and Heart Disease Institute.

“Many people with coronary disease do not have high cholesterol. In fact, the vast majority of people with coronary disease are not identified by standard risk assessment.” 1,2 Dr. Superko explains why a focus on LDL does not provide a complete picture of cardiovascular risk. He discusses how measurement of lipoprotein sub-classes, using ion mobility analysis for direct quantification of particles throughout the lipoprotein spectrum, provides the basis for a more accurate assessment of risk and intervention.

The Rationale for Measuring Lipoprotein Sub-Classes
“The entire field of measuring lipoprotein subclasses—small LDL, large LDL, big and small HDL—goes back over 50 years, when Dr. John Gofman, at the University of California, established that the lipoprotein subclasses are related to cardiovascular risk and provide information not apparent on standard lipid tests,” notes Dr. Superko. “Follow-up, based on both the Framingham study and the Lawrence Livermore National Laboratory study, and a series of federally funded clinical investigations, has since shown that small dense LDL significantly predicts cardiovascular risk in both primary prevention and secondary prevention, and this risk is frequently not identified by standard heart disease risk factors.”3-7

One confusing factor when assessing risk is that triglycerides are often, but not always, linked to LDL size—in general, the higher the triglyceride level, the smaller the average LDL size. “The key point is that this relationship indicates likelihood,” explains Dr. Superko. “The Jupiter and Malmo studies have shown that there are people with normal LDL cholesterol and triglycerides who have small LDL, and that independently predicts cardiovascular risk.8-11 A confusion in the field is that triglycerides predict this small LDL disorder. To some extent this conclusion is justified, as there is a relationship. But to a large extent it’s wrong, because it misses people in both groups that are in a triglyceride range of 70-250 mg/dL.12 Recently there have been a number of scientific publications that show statistical significance for small LDL in predicting coronary artery disease risk, which is totally independent from other risk factors.”13-14

Small LDL as an Independent Risk Factor – The Evidence
The HDL-Atherosclerosis Treatment Study (HATS) showed that patients with small LDL who underwent treatment had significant reduction in the arteriographic rate of progression and some degree of regression.15 Subsequent papers using the HATS dataset showed that the amount of small LDL was directly proportional to arteriographic progression and clinical events, and it was independent of other factors. 13,14

A paper published in April 2014 reported on four different methods used to measure the presence of small LDL: gradient gel electrophoresis, vertical auto profile, nuclear magnetic resonance, and ion mobility.13 “What they found,” explains Dr. Superko, “is that, by all four methods, the presence of small LDL predicted disease progression. However, when covariates such as triglycerides and HDL-C were taken into account, some or all of the relationships were no longer statistically significant. But three of the ion mobility measures retained independent statistical significance. The measurement of particles using this method predicts cardiovascular risk independent of other factors.”

Identifying Risk in “Low Risk” Groups
Two abstracts presented at recent meetings indicate that, even in those who may be considered at low-risk, the presence of small LDL significantly predicts cardiovascular risk. Work presented by Dr. Dov Shiffman at the 2014 American Heart Association, Arteriosclerosis, Thrombosis, and Vascular Biology meeting was a new assessment of the Malmö study. This looked at patients defined as being at low risk according to the new 2013 AHA/ACC guidelines—those with less than 7.5% risk of an event over the next 10 years—and determined that the presence of small LDL, based on ion mobility measurement, predicted events in this group.11 More recently, Dr. Samia Mora (Harvard University) presented an analysis of placebo-treated patients in the Jupiter study.9 Using ion mobility testing, Dr. Mora and her colleagues showed that in a large randomized primary prevention trial of non-diabetic individuals recruited on the basis of non-elevated LDL-C, LDL particle-based measures were more strongly related to CVD than was LDL-C.

“So, people in what is considered a safe LDL-C range, who have an abundance of atherogenic lipoprotein particles as measured by ion mobility, may have a significantly greater risk of cardiovascular events than people in that range who do not have an abundance of atherogenic lipoprotein particles,” summarizes Dr. Superko. “This validates what we’ve known for 50 years—that many people with coronary disease do not have high cholesterol and that the vast majority of people with coronary disease are not identified by standard risk assessment. With ion mobility physicians have a new tool that can identify those people that may be considered safe, but are actually at high risk, and suggests some form of therapy, whether it be lifestyle modification or medication.”

Small LDL and the Metabolic Syndrome
Measuring small LDL is also important because of its link to the metabolic syndrome. “Small LDL is included as one of the characteristics of metabolic syndrome in the ATP3 guidelines” says Dr. Superko.16 “As the rate of obesity increases in this country, so will the prevalence of metabolic syndrome, and there will be a corresponding rise in atherosclerosis related to the increases in small LDL. But you’ll need a tool to determine if a patient is at risk, since not all obese people have the metabolic syndrome, and some thin people do. So, this tool is necessary to determine if you have a component of metabolic syndrome—ie, small LDL—and then it's also useful to determine how effective your therapy has been.”

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BRCA Mutation Testing: Minimizing the Rate of Variants of Unknown Significance
L. Patrick James MD
Senior Medical Director
Quest Diagnostics

One challenge in BRCA mutation testing is the detection of variants of unknown significance (VUS). Quest Diagnostics is committed to minimizing the VUS rate of its BRCAvantage™ testing through extensive use of bioinformatics, partnering with experts in the field and supplementing its own data with international databases. This has resulted in a VUS rate of only 3.2% over the first 2000 samples analyzed.

Applying Bio-informatics to Minimize Uncertainty
Recognizing the challenge presented by VUS detection, Quest Diagnostics aims to minimize the VUS rate through extensive use of bioinformatics. Cross-referencing a range of proprietary and public databases for known mutations in BRCA1 and BRCA2 can determine whether a variant not recognized initially is truly unknown. If a variant is not recognized, it can be entered into these databases to be watched over a period of time. “We check on a regular basis for any updates, so we can report back to the provider as soon as possible and ensure the patient is informed,” says Dr. Patrick James, Senior Medical Director, Quest Diagnostics. “The increased use of BRCA testing, combined with a commitment by test providers to transparency, will allow us to learn the biological significance of these variants more quickly. We feel confident about our bioinformatics capability.”

Quest Diagnostics has access to the UMD-BRCA1/BRCA2 database, at the Institute Curie in France, to define the pathogenicity of the mutations or variations found by their testing. Dr. James notes, “At the same time, we share our data with them; by making our information publicly available, we hope to contribute to understanding of the field. We combine data from UMD, other databases, published data, and molecular models. By combining the information from these sources, we have achieved a VUS rate of only 3.2% over the first 2000 samples analyzed.”

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MyQuest by Care360®
Simplifying Patient Access to Health Information
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Tom Wagner
Vice President, Healthcare Technology Solutions, Quest Diagnostics

With the recent launch of its patient-access portal and app, MyQuest by Care360®, Quest Diagnostics is promoting better health by enabling simple access to test results and comprehensive health information while facilitating physician/patient communication.

This cutting-edge approach is also designed to help physicians who use the Quest Diagnostics Care360 Electronic Health Record (EHR) to qualify for the Centers for Medicare and Medicaid (CMS) EHR Incentive Program. Physicians who use the Care360 EHR can securely provide information and clinical summaries to patients who are registered on the MyQuest by Care360 portal, fulfilling the program requirements.

Mr. Wagner discusses how MyQuest provides a seamless experience for patients, providing notifications of test results, access to personalized health information, and sharing of information with their physicians.

Promoting Better Health Through Comprehensive Information
The development of MyQuest by Care360 was driven by a commitment to promoting better health, notes Mr. Wagner. “Firstly, we believe we should not only provide patients with comprehensive information about their health but also simplify how they access that information. Secondly, we want to create a personalized experience for our patients and customers by providing information relevant to their particular status or condition. Thirdly, the portal allows patients to access all information from Quest Diagnostics seamlessly, without any need to switch sites or to log-in more than once.

Another important benefit of the patient portal is that it provides a basis for health management. “It allows us to provide really specific content related to someone’s particular interest. For wellness management, for instance, we can enable people to understand what different diagnostic lab tests mean in relation to a fitness regimen, and we’ll be integrating apps that link to all aspects of an individual’s activity.”

Improving the response to abnormal laboratory results is an important area where better access to information can enhance patient management. “It’s striking that 7.1% of all abnormal lab results aren’t acted upon or communicated to the patient,” notes Mr. Wagner. “With better access to information and the ability to track their healthcare, people will be better prepared when they visit their healthcare provider. This approach is in no way intended to be a substitute for that discussion but rather to be a preparatory step, equipping the patient with all necessary information before the visit.”

Timely Access to Results
Once a patient has registered with MyQuest by Care360 they will receive an email notification that their results are ready—usually within 2 to 3 days of the results becoming available. They can then access their results by logging onto the website, or by using the app, where they will have access to other patient services, such as billing and scheduling. The test results themselves are displayed graphically so patients can easily see whether their results are normal or abnormal and where their results lie on a range of values.

MyQuest by Care360 also allows patients to look at their lab test results and see trends over time. “If they’re looking at their A1C, for example, they can see the last five tests they’ve had, and see how well they’re doing. We allow them to enter their conditions and allergies to create a more complete record. Over time patients will be able to add family history, medication histories, and other family members within the product.”

Streamlining Physician-Patient Communication
MyQuest by Care360 has been designed to be compatible with electronic health records (EHR) systems, as well as other patient portals. “We were trying to make sure that, whatever system a physician office uses for a patient record, our product will work with it,” explains Mr. Wagner. “If we send information to a physician who’s part of a medical home, that data can easily be shared with other physicians in that office or access to that data can be made available to other physicians. We can send the information via secure-messaging to the physician or to the patient; we can send it as a print-out or as a PDF file. I think this is all key to facilitating communication between patients and their physicians.”

Enabling Physicians to Qualify for Meaningful Use Incentives
The patient portal is designed to help physicians who use the Quest Diagnostics Care360 EHR to qualify for the Centers for Medicare and Medicaid (CMS) EHR Incentive Program. Stage 2 of the Meaningful Use program, which focuses on electronic engagement with patients, begins this year for providers who have participated in the program for at least two years. To meet the 2014 requirements of the CMS EHR Incentive Program, a physician must demonstrate that at least 50% of patients seen have online access to their health information (including lab results); 5% or more download, view, or transmit their health information electronically; and 5% or more send the provider a secure electronic message. Physicians who use the Care360 EHR can securely provide information and clinical summaries to patients who are registered on the MyQuest by Care360 portal, fulfilling the program requirements.

Becoming an Invaluable Patient Resource
The patient response since the portal was launched on April 7 demonstrates that it is addressing an unmet need and is set to become an invaluable resource. Since the portal was launched, 1,000,000 patients have registered.

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Upcoming Events

Wednesday, December 3 – 12:00 pm ET/9am PT
Why Following the ADA Standards of Care for laboratory Testing Makes a Difference
Presenter: Vivian Fonseca, MD, FRCP
Overview: Dr. Fonseca, editor-in-chief of the Journal of Diabetes and its Complications will explain the rationale for ADA guidance as it relates to diagnostic testing for diabetes and help participants understand the positive patient outcomes that can be achieved when the guidelines are followed.

Register Now!

Thursday, December 11 – 12:00 pm ET/9:00 am PT
Monogenic Diabetes: Often Misdiagnosed and May Require Different Treatment
Presenter: Louis Philipson, MD, PhD
Overview: Dr. Louis Philipson, a leading world authority on diabetes mellitus, will help participants understand the differences between type1, type 2 and monogentic forms of diabetes, identify the key features and review the testing options. Quest Diagnostics is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E.® program. This webinar will provide 1.0 contact hour – Intermediate Level.

Register Now!

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