A new study has found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and that identifying the responsible genes has a direct impact on treatment for most of these patients.
“Our study shows that genetic testing can be used to personalize the diagnosis and management of kidney disease, and that nephrologists should consider incorporating it into the diagnostic workup for these patients,” says Ali Gharavi, MD, chief of nephrology at Columbia University Vagelos College of Physicians and Surgeons and a co-senior author of the study.
It’s estimated that 1 in 10 adults in the United States have chronic kidney disease. Yet, for 15 percent of patients with chronic kidney disease, the underlying cause of kidney failure is unknown.
“There are multiple genetic causes of chronic kidney disease, and treatment can vary depending on the cause,” says Gharavi. “And because kidney disease is often silent in the early stages, some patients aren’t diagnosed until their kidneys are close to failing, making it more difficult to find the underlying cause.”
DNA sequencing has the potential to pinpoint the genetic culprits, but has not been tested in a wide range of patients with chronic kidney disease.
“Our study identifies chronic kidney disease as the most common adult disease, outside of cancer, for which genomic testing has been demonstrated as clinically essential,” says David Goldstein, PhD, director of Columbia University’s Institute for Genomic Medicine and a co-senior author of the study.
Nearly 1 in 10 patients have a genetic kidney disorder
In this study, researchers used DNA sequencing to look for genetic kidney disorders in 3,315 individuals with various types of chronic or end-stage kidney disease. For 8.5 percent of these individuals, clinicians had not been able to identify the cause of disease.
The researchers found that a genetic disorder was responsible for about 9 percent of the participants’ kidney problems, and DNA testing reclassified the cause of kidney disease in 1 out of 5 individuals with a genetic diagnosis. In addition, DNA testing was able to pinpoint a cause for 17 percent of participants for whom a diagnosis was not possible based on the usual clinical workup.
DNA results had a direct impact on clinical care for about 85 percent of the 168 individuals who received a genetic diagnosis and had medical records available for review. “For several patients, the information we received from DNA testing changed our clinical strategy, as each one of these genetic diagnoses comes with its own set of potential complications that must be carefully considered when selecting treatments,” Gharavi says.
About half of the patients were diagnosed with a kidney disorder that also affects other organs and requires care from other specialists. A few (1.5 percent) individuals learned they had medical conditions unrelated to their kidney disease, In all of these cases, the incidental findings had an impact on kidney care. “For example, having a predisposition to cancer would modify the approach to immunosuppression for patients with a kidney transplant,” adds Gharavi.
“These results suggest that genomic sequencing can optimize the development of new medicines for kidney disease through the selection of patient subgroups most likely to benefit from new therapies,” says Adam Platt, PhD, Head of Global Genomics Portfolio at AstraZeneca and a co-senior author of the study.
Irving Medical Centerhttps://tinyurl.com/y2xct8uo

IDTechEx Research has recently released a new market report ‘Technology for Diabetes Management, 2019-2029: Technology, Players and Forecasts’, including details of glucose test strips, continuous glucose monitoring (CGM), insulin pumps, insulin pens, digital health / digital therapeutics, side effect management and diagnosis.

The report covers the entire landscape for diabetes management devices, including mature, emerging and future options. The report has been researched via primary interviews with companies, physicians and diabetic individuals to characterize and predict the technology landscape for diabetes devices over the coming decade. In total, activities of 75 companies are covered throughout the report, ranging from the largest players to technology developers and startups developing the next generation of device options.

Historically, diabetics have monitored their blood glucose concentration by using disposable biosensors; following a finger prick, a drop of blood is placed onto a glucose test strip, which is inserted into a reader to provide the result. Whilst billions of test strips are produced each year, this sector as seen profitability shrink due to changing medical subsidies and increased competition. Alternative options have been developed to enable continuous glucose monitoring. These involve devices that are typically worn on the skin, using a sensor on a small needle to test glucose in interstitial fluid. There are now approved devices from several key players, with this industry growing each year.

However, challenges still remain with glucose monitoring devices, with the ultimate aim of providing the best experience for diabetics. CGM devices in the past have been reliant on test strips for calibration, as well as still being invasive or implantable, leading to discomfort. This has led to many players investigating glucose monitoring options which are less invasive, whilst maintaining the required accuracy and reliability. In addition, the possibility of pairing CGM devices with insulin pumps for increasingly automated "closed-loop" systems is becoming increasingly closer. These goals have been in place for decades, and the report follows all the latest news, trends and outlook in each of these technology frontiers around diabetes management devices.

However, managing diabetes is about more than just monitoring glucose levels. The report also covers other aspects of diabetes technology landscape, including insulin delivery, the role of digital health in diabetes, technology for managing side effects, technology for diagnosis and reimbursement, funding and investment examples. The report then includes detailed market forecast following two different methodologies. The first involves the collection of revenue data from companies throughout the space, with historic data back to 2010 by company and by sector. This is then projected given a series of assumptions based on IDTechEx’s primary research efforts. The second forecast scenario involves looking at data for the diabetic population, including number of diabetics, split by type, percentage diagnosis, and then adoption rates by device type for each group. The two forecasts are then discussed and compared, providing with the reader with ample content from which to base business decisions and understand the dynamics in the space.

As discussed, the report is split into 8 main chapters, discussing each aspect of diabetes management technology (not including pharmaceutical options). Following an executive summary, detailing the main conclusions and discussion of the report, the report introduces the challenges and opportunities in diabetes management, as well as going through the main patent holders and filing trends in the space. Then, topic chapters of the report are as follows:

• Sensors for diabetes management: This chapter includes coverage of glucose sensing, from test strips and glucometers, to continuous glucose monitoring (CGM), and through to a discussion of emerging options in this space. In total, 37 different companies are mentioned in this section, ranging from the largest players in tests strips and CGM (e.g. Abbott, Roche, Medtronic, Dexcom, etc.) through to many emerging players or innovators attempting new approaches to glucose monitoring.
• Insulin delivery: This chapter covers techniques from traditional vial-and-syringe and insulin pens, to insulin pumps and towards closed loop insulin delivery alongside CGM. Key trends discussed in this section include the integration of different connectivity and technology integrated alongside both insulin pump and insulin pens, the links from these devices into wider digital health ecosystems and the adoption of newer devices (particularly insulin pumps) by territory and demographic.
• Digital health: Chronic diseases are a prominent early target for those in the digital health ecosystem, and digital health options for diabetes have been prominent. This chapter discusses activities from both the small and larger players, including major acquisitions and collaborations, in areas including diabetes management systems, device companion software and digital therapeutics.
• Side effect management: The majority of the costs associated with diabetes are around managing side effects. This section focuses on new technology options emerging around areas such as diabetic neuropathy, foot ulcers and ketoacidosis. This includes various wearable, flexible and textile-based technology options.
• Diabetes diagnosis: discussing the use of emerging technologies to aid the early detection of diabetes, thereby preventing long hospital stays and other complications.
• Reimbursement options, funding and investment examples: These final elements to the report fill in details which are important for the broader space. Reimbursement, whether through insurers, national healthcare initiatives or otherwise, is still critical for the majority of diabetes devices. Funding and investment are also present, as with any large, transforming industry.

Over 75 companies are mentioned in the report, including many primary interviews, a patent analysis of the key patent-holders, and revenue data where relevant.

The European Organisation for Research and Treatment of Cancer (EORTC) Brain Tumor Group and Protagen AG today announced a collaboration to utilize Protagen’s Cancer Immunotherapy Array to identify autoantibody biomarkers that investigate the immunological profile and immuno-competence of long-term Glioblastoma survivors.
Glioblastoma is the most common glial brain tumor with an annual incidence above 3 per 100,000 population. The overall prognosis of glioblastoma patients remains poor. According to population-based data, median overall survival (OS) is still in the range of only one year and long-term survival is rare. However, a minority of glioblastoma patients survive for more than 60 months and these individuals are referred to as long-term survivors. The US-based Brain Tumor Funders Collaborative (BTFC) is supporting a large international research program that aims at better understanding which individuals with glioblastoma will ultimately become long-term survivors.
Through the present new collaboration, Protagen and the EORTC Brain Tumor Group will utilize Protagen’s Cancer Immunotherapy Array to understand the immunological profile of such patients to learn how to predict such long-term survival and potentially define novel pathways for therapeutic intervention.
Prof. Michael Weller, Head of the Brain Tumor Center at University Hospital Zurich and Chairman of the EORTC Brain Tumor Group, stated: “In our network we have followed and investigated this group of long-term glioblastoma survivors for many years. The focus has been to understand the molecular profile of these patients and thus over the years we have gained a much better understanding. However, we really need to understand the immunological profile and the immuno-competence of these patients better. Thus, investigating these patients by utilizing Protagen’s Cancer Immunotherapy Array may enable us to define their immune-profile, so that we can assess their immuno-competence. This will help us, together with the data already collected, to potentially understand why these patients survive for so long and how this can be extrapolated to other patients suffering from glioblastoma.”
Dr. Peter Schulz-Knappe, Protagen’s Chief Scientific Officer, commented: “Our unique Cancer Immunotherapy Array has already demonstrated its potential for the prediction of therapeutic response and immune-related adverse events in Immuno-Oncology. The extension into Glioblastoma with a specific view to studying long-term survivors with one of the deadliest tumors provides a great opportunity to apply the Array for the prediction of survival but also to learn more about potential novel pathways for therapeutic intervention. Thus, we believe that applying our technology will result in a better understanding of the immunological profile of these long-term survivors which will benefit all patients suffering from Glioblastoma. We feel privileged that the EORTC Brain Tumor Group shares this vision, and are excited about the collaboration.”

Horiba has recently announced the publication of scientific studies which demonstrate the excellent performance of its new HELO high throughput fully automated hematology platform on body fluid and pathological samples. Horiba’s Yumizen® H2500 and H1500 automated hematology analysers within the HELO platform deliver enhanced precision for complete blood counts and white blood cell (WBC) differential testing, with body fluid analysis included as standard. This improves diagnosis, minimizes unnecessary manual microscopy slide reviewing and enhances laboratory workflow, as highlighted by two recent scientific evaluation studies.
The first study was undertaken by Nantes University Hospital (CHU de Nantes) focusing on the need for automated analysis of biological fluids for robust and reliable results reporting. Hematological analysis of body fluids (BF) can provide clinicians with valuable diagnostic information as it can indicate a number of serious medical conditions. Manual microscopy has traditionally been used to determine total and differentiated WBC in BFs, however, results can be affected by inter-operator variability and take time to undertake. By using an automated method of analysis of WBC in a body fluid smear, this can improve turnaround times and accuracy.
To ensure the robustness and reliability of automated BF analysis in routine laboratory workflows, the evaluation study was undertaken on the performance of the automated body fluid analysis cycle on the Yumizen H2500. The study included 98 samples from cerebro-spinal, pleural, ascitic, pericardic and bronchoalveolar liquid (BAL) fluids which were used for comparative leukocyte and erythrocyte counts, as well as differential. This confirmed the good analytical performance of Yumizen analyser in comparison with conventional microscopic count, as well as a reference analyser.
The second study explored the flagging efficiency of the new analyser. Pathological samples, coming from patients with altered hematopoiesis, often trigger a WBC-Diff flag; this is due to poor cell separation and requires a manual slide review (MSR) by microscopy to confirm the WBC differential. Laboratory workload would be optimized if MSR could be reduced without compromising patient care. Therefore, the study undertaken by the Institut Bergonié Comprehensive Cancer Centre compared the flagging performance in the WBC differential of the Yumizen H1500/H2500 to a routine analyser. This included patients with pathology or treatment affecting hematopoiesis, such as those undergoing chemotherapy or with onco-hematologic disorders.
The study on 228 pathological samples (100 from patients on chemotherapy for solid tumours and 128 from patients with malignant blood disease) demonstrated an improvement in the WBC-diff analysis and reliability of the Yumizen H1500/2500 analyser compared to a routine analyser. It delivered better precision and specificity, due to improved cell separation, and a significant decrease (-21%) in unnecessary morphology reviewing by microscopy, thus saving significant time in the laboratory.
Commenting on the successful outcome of the studies, Mandy Campbell, Horiba Medical said, “These evaluation studies undertaken by recognized authorities in hematological analysis, demonstrate the excellent performance of our new Yumizen H1500/H2500 automated hematology analysers with both body fluid and pathological samples. Body fluid analysis is available as standard on these analysers which have been shown to enhance diagnoses and lower film review rates to improve laboratory workflow.” www.horiba.com/medical