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Archives for April 2013

Penn Medicine’s New Center for Personalized Diagnostics Unlocks Cancer’s Secrets

Just like a massive iceberg jutting out of the ocean, many of cancer’s genetic underpinnings remain hidden under the surface, impossible to predict or map from above. The foreboding shadows and shapes that appear on CT scans and MRIs – and even in the field that doctors see when they zoom in to look at cancer cells under a high-powered microscope – are just the tip of the iceberg.

Penn Medicine’s new Center for Personalized Diagnostics, a joint initiative of the department of Pathology and Laboratory Medicine in the Perelman School of Medicine and the Abramson Cancer Center, is diving deeper into each patient’s tumor with next generation DNA sequencing. These specialized tests can refine patient diagnoses with greater precision than standard imaging tests and blood work, all with an aim to broaden treatment options and improve their efficacy.

“We’re using the most advanced diagnostic methods to unlock cancer’s secrets,” says David B. Roth, MD, PhD, chairman of the department of Pathology and Laboratory Medicine. “A tumor’s genomic profile is the most critical piece of information for an oncologist to have when they’re deciding what therapy to recommend. The results of tests in the Center for Personalized Diagnostics reveal a genetic blueprint of each patient’s tumor that is as discrete and singular as a fingerprint.”

The Center for Personalized Diagnostics unites top experts in genomic analysis, bioinformatics, and cancer genetics – who use the most sensitive data analysis tools available to identify the rarest of mutations – with oncologists who treat patients and design clinical trials to test new therapies. Together, their efforts will provide cancer patients with cutting-edge diagnostic and therapeutic options.

The first group of patients who are undergoing testing through the CPD includes those with blood cancers and solid tumors of the brain, melanoma, and lung. Throughout 2013, the tests will be expanded for a wider range of cancer patients. Results are available within two weeks – twice as fast as most commercially available testing panels. All new and relapsed Abramson Cancer Center patients will receive this testing – conducted via simple blood tests and/or biopsy of tumor tissue or bone marrow – as part of their evaluation and diagnostic process. Interpretation of results is communicated one-on-one to patients and their caregivers by physicians and genetic counselors.

In contrast to the CPD’s offerings, individual genetic tests – which now proliferate in the marketplace, even for healthy people who may be interested in going on a spelunking expedition through their DNA – are time consuming and expensive to conduct, and they often yield information which is not clinically actionable. When these tests are offered for cancer patients, patients are often left with only a veritable alphabet soup detailing genetic information, with few plans for how to use those findings to conquer their cancer.

Since the CPD began operating in early 2013, however, tests in 80 percent of patients revealed genetic mutations that may be used to alter their treatment course or clarify their prognosis. The results are playing a role in:

  • Matching patients with existing therapies designed to target mutations previously associated only with different cancers. For instance, some lung cancer patients exhibit mutations of the BRAF gene, which is targeted by drug Vemurafenib, initially developed and approved for melanoma. Testing in the Center for Personalized Diagnostics is helping clinicians make new connections that will expand the indications for existing drugs.
  • Helping physicians determine which treatments a patient will respond to, or how well they will tolerate a particular treatment. Patients with the blood cancer acute myelogenous leukemia who express a mutation known as DNMT3A, for instance, are known to respond to higher doses of the drug daunorubicin. Learning this type of information prior to beginning treatment can help oncologists select and dose drugs in a way that will reduce side effects and boost patients’ quality of life during treatment – and increase their chance of completing their prescribed regimen.
  • Identifying patients who are likely to have a poor prognosis if treated with first-line therapies, which allows clinicians to set up a cascade of alternative therapies or, in the case of some blood cancer patients, expedite the search for a matching bone marrow donor.
  • Detecting resistance mutations that could slow or halt patients’ response to targeted drugs, which allows for custom-designed combination therapies to attack tumors through multiple pathways.

The Center’s research agenda operates in parallel with its clinical care mission. Each patient’s test results will add to an enormous repository of genomic mutation profiles that, combined with the ability to follow patients over time, will help clinical researchers identify new markers and mutation profiles to better predict the course of an individual patient’s treatment response and suggest new targets for therapy. As new mutations are detected and novel treatment options are identified, the gene testing panels will be modified and expanded, creating an evolving, real-time mutation profiling option.

“We see 11,500 newly diagnosed patients each year in the Abramson Cancer, and hundreds of others who seek our help when their cancers have not responded, or have returned, after receiving standard therapies elsewhere,” said Chi Van Dang, MD, PhD, director of the Abramson Cancer Center. “A key part of our mission is to provide each of these patients these tests as soon as possible, so that we can quickly tailor a treatment regimen that provides them the greatest chance of a cure.”

Source: Penn Medicine

Alzheimer’s Disease and Dementia Early-Diagnostic Clinic Launched in Iceland

MentisCura Diagnostics (www.mentiscura.com) recently announced the launch of its first clinical center for the early detection of Alzheimer’s disease and other dementias. The operational launch brings sophisticated biomarkers capable of assisting early, differential diagnosis into a clinical setting and provides for the first time cutting edge electrophysiological analysis developed by MentisCura to the general public through community physicians.

Both the high prevalence and rapidly increasing incidence of CNS disorders are raising alarm on account of the growing burden of care associated with these diseases. According to data published by the Alzheimer’s Association, Alzheimer’s disease is the sixth-leading cause of death in the United States, with as many as one in eight older Americans having Alzheimer’s disease in 2012. A recent World Alzheimer’s Report estimated the 2010 worldwide cost of dementia to be more than $600bn.

“Our new service fulfills an important role addressing the key issues of earlier and more accurate diagnosis. Current diagnostic tools such as fMRI and PET are in a price range that precludes their use as screening tools for dementias. The low cost, high-throughput and non-invasive nature of our test makes it uniquely useful in a real world clinical setting, where physicians need to assess patients and make diagnostic decisions before these diseases have reached a late and untreatable stage. From a five-minute EEG recording using the international standard 10-20 testing protocol, our powerful analytical systems are able to provide same-day results back to physicians,” said Kristinn Gretarsson, CEO of MentisCura.

“MentisCura provides a welcome and reliable tool for diagnosing the causes of cognitive impairment and dementia. It plays a key role in our diagnostic protocol for dementia and is an important part of our follow up on disease progression and treatment efficacy,” commented Jon Snaedal, MD, Chief Physician of the Memory Clinic at the National Hospital of Iceland.

MentisCura’s clinic offers a complete, integrated service to hospitals and general practitioners through sampling, processing and analysis of patient EEG data. The MentisCura Analysis System is a CE marked diagnostic aid, based on advanced, proprietary EEG-biomarker technology platform that accurately maps changes in electrophysiology to specific disease pathologies, through correlation with the world´s most comprehensive proprietary EEG database for dementia and cognitive disorders. The platform supports diagnoses for most common types of dementia, including Alzheimer’s disease and Lewy Body Dementia.

Source: Business Wire

Oncotest GmbH and Debiopharm Group™ Announce a Successful Partnership in the Identification of Biomarker Candidates

Oncotest GmbH and Debiopharm Group™ (Debiopharm) a Swiss-based global biopharmaceutical group, recently announced the successful completion of the first biomarker projects at Oncotest. In a recent study, pharmacological data was generated with Debiopharm’s investigational compound in Oncotest’s 3D assay system for patient-derived xenografts and correlated with the extensive Oncotest’s genomic and transcriptomic data. The collaboration resulted in the identification of several predictive biomarkers candidates including a gene signature.

“We are enthusiastic to work with Debiopharm on these projects and are looking forward to continue and expand our collaboration. I am convinced that the concept of deriving predictive biomarkers for new drugs already in a preclinical setting will make an impact. Ultimately, it has a significant potential to lower the attrition rates in clinical trials. Today, with our new biomarker department and the characterization data available for our tumor models, Oncotest is ideally positioned in this area.” said Prof. Heiner Fiebig, Founder and CEO of Oncotest.

Dr. Hiroaki Tanaka, Personalized Medicine Director at Debiopharm added: “Reliable preclinical models are key success factors in drug development. We believe that technologies based on the direct use of patient tumors have a game-changer potential in translational research in oncology. We are happy to collaborate with Oncotest, a pioneer and a leader in the area, and we are looking forward to extending our partnership even further towards the achievement of personalized medicine.”

Source: Debiopharm Group

Pilot Study Demonstrates Home BNP Testing Is Feasible & Suggests Home Monitoring May Have Value in Guiding Therapy for High-Risk Patients

Alere Inc. (NYSE: ALR), a leading provider of near-patient diagnostics and health information solutions, recently announced the final results of the HABIT pilot study, which were recently published in the Journal of the American College of Cardiology. Led by Dr. Alan Maisel , Professor of Medicine at the University of California, San Diego, the study is the first to capture serial data from patients at high risk for recurrent acute clinical heart failure decompensation (ADHF), who performed a fingerstick BNP self-test from home for a period of 60 days. Results not only demonstrate that home BNP testing is safe and feasible for heart failure patients, but also indicate that BNP patterns following treatment for ADHF provide a wealth of information that may facilitate more personalized treatment leading to significant outcomes benefits.

In the United States, nearly one out of every four patients hospitalized for ADHF is rehospitalized within 30 days of discharge from the hospital, and the bulk of the costs associated with managing these patients derives from rehospitalization. Consensus among clinical experts is that more than 50% of hospital readmissions can be prevented through increased attention to modifiable factors that affect pulmonary congestion. But, while shortness of breath, edema, and weight gain can often signal pulmonary congestion, these symptoms may not appear in up to one-third of all heart failure patients. Changes in natriuretic peptide (NP) levels, along with monitoring for symptoms, signs, and weight changes, have been shown to improve the certainty of predicting heart failure decompensation. Up until now, however, NP measurements have been excluded from home heart failure monitoring programs because of the need for phlebotomy.

The HABIT study, a multi-center, single-arm, double-blinded observational prospective clinical trial, was designed to monitor daily concentrations of B-type natriuretic peptide (BNP) and determine the extent to which they correlate with ADHF and related adverse outcomes. A total of 163 patients with ADHF who were discharged from the hospital or being treated in an outpatient setting measured their weight and BNP levels daily for a period of 60 days using a fingerstick test run on the Alere™ Heart Check. Adverse outcomes for ADHF were measured as a composite of events that included cardiovascular death, admission for decompensated heart failure, or clinical heart failure decompensation requiring either parenteral therapy or adjustments to oral medications.

A total of 6,934 daily BNP values were recorded, with a median of 46 measures per patient over the course of the monitoring period. 40 patients had 56 events. Correlations between BNP measures weakened over time, and the dispersion between measures grew. When the monitoring period for each subject was broken into intervals based on ADHF events, there were 39 (18.4%) intervals of upward-trending BNP corresponding to a risk increase of 59.8% and 64 (30.2%) downward-trending intervals corresponding to a risk decline of 39.0%. There were also 94 (44.3%) intervals with one or more days of weight gain corresponding to an increased risk of 26.1%. Investigators concluded that daily weight monitoring is complementary to BNP measurement, but changes in BNP levels ultimately signaled larger shifts in risk, both upward and downward.

“Our results demonstrate that it is feasible and safe for heart failure patients to measure their results at home on a daily basis,” said Alan Maisel . “The incremental data from serial home measurements following an episode of ADHF appear to provide a novel means with which to identify those patients who are at highest risk of recurrent decompensation. The pattern or trend in BNP values may be used to identify when to correlate with a face-to-face clinical assessment or therapeutic intervention, or to guide therapy with specific medication changes without additional office visits.”

Investigators have determined that the results of the HABIT pilot study warrant an interventional trial to measure the extent to which home BNP testing impacts formal outcomes measures that include hospital readmissions. A study comparing today’s standard of care, which involves monitoring symptoms of heart failure and body weight changes following hospital discharge under the management of hospital-based outpatient heart failure clinics, to an algorithm that incorporates routine, home BNP measurements is set to commence before the end of 2013.

Study: Primary Results of the HABIT Trial (Heart Failure Assessment With BNP in the Home)

Source: PR Newswire

Quest Diagnostics Launches Novel Rheumatoid Arthritis Tests

Quest Diagnostics (NYSE: DGX), the world’s leading provider of diagnostic information services, recently announced the availability of two new blood tests for aiding the early diagnosis of rheumatoid arthritis (RA), an autoimmune disorder that can cause debilitating joint damage.

The lab-developed tests are based on the proprietary 14-3-3eta protein biomarker through an exclusive license agreement for the U.S. market with Augurex Life Sciences. One test provides results of 14-3-3eta blood levels, while a comprehensive panel provides results of blood levels of the novel marker as well as the conventional RA markers cyclic citrullinated peptide (CCP) antibodies and rheumatoid factor (RF). Higher blood levels may suggest a greater likelihood of RA.

“These novel assays have significant potential to help physicians identify early stage RA, when treatment can often arrest further disease progression and disability,” said Stanley J. Naides, M.D., F.A.C.P., F.A.C.R., medical director, Immunology R&D, Quest Diagnostics. “We believe they are superb examples of the potential of diagnostic insights to promote better outcomes through earlier diagnosis and treatment.”

Diagnosis and initiation of treatment of RA within 12 weeks of symptom onset can help prevent joint damage, improve long-term function, and increase the likelihood of achieving disease remission. Yet, many patients are not diagnosed during this time frame, and conventional lab tests, which evaluate blood levels of CCP antibodies and RF, may fail to identify the disease in an early stage.

Physicians may consider results of RF and CCP antibody tests, along with a medical evaluation and X-rays, to diagnose RA. Elevated blood levels of the 14-3-3eta biomarker outperformed conventional RF or CCP antibody testing in a recent study of early RA, being positive in 60-82% of patients diagnosed with RA compared to RF alone (32-82%) or CCP antibody alone (44-82%). The combination of all three markers further increased sensitivity to 72-100%. In addition, co-morbid conditions, such as type 1 diabetes, osteoporosis and gout, do not abnormally raise blood levels of 14-3-3eta.

“The key to successful treatment of rheumatoid arthritis rests with early diagnosis so that appropriate treatment can be instituted before the appearance of joint damage. We still lack the ability to diagnose this disease early in a substantial proportion of patients who may not then receive timely care. The introduction of 14-3-3eta therefore fulfills an important unmet need for both rheumatologists and primary care physicians,” says Dr. Walter Maksymowych, the principal investigator of several 14-3-3eta studies as well as the International Chair of the Outcomes Measures in Rheumatology Clinical Trials Soluble Biomarker Subcommittee and Medical Research Professor of Medicine and Rheumatologist at the University of Alberta, Canada.

“There are multiple routes that biotechnology companies like Augurex can take to commercialize scientific discoveries for clinical use. We believe that Quest’s expertise in immunology and leading diagnostic services position is the best way for 14-3-3eta to reach US physicians and patients who can benefit most from it,” says Norma Biln, chief executive officer of Augurex, which announced the license agreement with Quest Diagnostics in October 2012.

Quest Diagnostics’ advanced clinical laboratory in San Juan Capistrano, Calif., developed, validated and now offers the new RA tests.

Quest Diagnostics offers a broad menu of immunology diagnostic-information services, including a full menu of diagnostic tests for immune function and autoimmunity.

Source: Quest Diagnostics