Siemens Healthineers and Healthy.io have joined forces to help broaden access to albumin-to-creatinine ratio testing and to make it easier for patients to comply with chronic kidney disease monitoring. Periodic albumin-to-creatinine ratio testing to monitor kidney function is traditionally performed in a clinician’s office. This partnership aims to offer patients a home testing option by integrating Siemens Healthineers albumin-to-creatinine ratio urinalysis reagents into Healthy.io’s smartphone-based urinalysis system. Healthy.io’s urinalysis system is CE marked and ISO 13485 certified in the EU, and is currently awaiting Food and Drug Administration 510(k) clearance in the U.S.

The system uses a traditional urinalysis dipstick that the patient takes a picture of with his or her smartphone. Healthy.io’s computer vision algorithms and calibration method then compensate for lighting conditions and the settings of the patient’s smartphone camera to enable accurate reading of the dipstick. Healthy.io’s app guides the user through the entire testing process step by step, and at the end automatically sends the results to the patient’s electronic medical record for clinical follow-up.

“Healthy.io is a pioneer in using computer vision and machine learning to transform the smartphone camera into a clinical grade medical device for improved patient access and convenience,” said Yonatan Adiri, founder and CEO of Healthy.io. “Healthy.io and Siemens Healthineers share a vision for a future of healthcare, which sees consumers take greater control of their healthcare in a way that complements the existing clinician workflow.”

Beckman Coulter, Johns Hopkins Enter Broad Partnership to Develop New Tests

Beckman Coulter Diagnostics and Johns Hopkins Medicine are collaborating to develop and commercialize in vitro diagnostic devices that address unmet clinical and technical healthcare needs. Through this partnership, Johns Hopkins’ faculty, students, and startup community are expected to benefit from Beckman Coulter Diagnostics’ experience with the global commercialization of diagnostic products. In turn, Beckman Coulter hopes to benefit from observing Johns Hopkins researchers and clinicians as they work to develop new technologies. The company will also be able to test solutions on-site with Johns Hopkins experts, which the partners hope will help to accelerate the translational process from research to healthcare application. “It is critical to explore and test new and innovative solutions with clinicians working in actual clinical settings to determine real-world quality and effectiveness,” said John Blackwood, senior vice president and general manager of products and services at Beckman Coulter Diagnostics. “This will help us to address clinical challenges in a rapidly changing environment.”

Mayo Clinic, Helix Start Direct-to-Consumer Genetic Testing Service

Together with the personal genomics company Helix, Mayo Clinic has launched a new service called the Mayo Clinic GeneGuide that provides healthy individuals with genetic testing in addition to educational materials to help them understand their results. The GeneGuide test covers genetic markers for complex illnesses and hereditary genetic conditions as well as indicators of how the body processes certain medications and anesthesia. When an individual orders GeneGuide, the process begins with a Mayo-affiliated physician reviewing the individual’s health history. If GeneGuide is appropriate for the individual, the physician then orders the test through Helix’s clinical lab and Helix ships a saliva collection kit to the individual within 2 days. Once Helix receives the saliva sample and sequences the DNA, Mayo Clinic interprets the results and makes them accessible via the Mayo Clinic GeneGuide web application.

U.K. Epilepsy Society, Congenica Study Genetics of Sudden Unexpected Death in Epilepsy

The U.K.’s Epilepsy Society has entered a partnership with Congenica, a diagnostic decision support platform provider, to improve the prediction and treatment of sudden unexpected death in epilepsy (SUDEP). As part of a joint study, the partners will carry out whole genome and exome sequencing analysis on samples from a cohort of 100 SUDEP clinical cases to better understand the underlying genetic causes of this condition. The study will use Congenica’s Sapientia diagnostic decision support platform, which is based on technology developed at the Wellcome Trust Sanger Institute, and will be led by a multidisciplinary research team including scientists from the Epilepsy Society and Congenica, as well as from University College London. “This important study may help us find and understand some possible risk factors for SUDEP,” said Sanjay Sisodiya, PhD, director of genomics at the Epilepsy Society. “Collaborating with Congenica will ensure analyses of the data are robust and comprehensive, optimizing the chances of discovery.”

Almac, TP Therapeutics to Develop NGS-Based Cancer Co-Diagnostic

Almac Diagnostic Services is partnering with TP Therapeutics to develop and commercialize a companion diagnostic for repotrectinib, TP Therapeutics’ investigational therapy designed to target ROS1, NTRK1-3, and ALK gene fusions in advanced solid tumors. Currently in the investigational stage, repotrectinib is a low molecular weight, macrocyclic tyrosine-kinase inhibitor that is designed to overcome clinically acquired resistance mutations to other ROS1, TRK family, and ALK inhibitors, especially gatekeeper and solvent front mutations. Using ArcherDx Anchored Multiplex polymerase chain reaction chemistry, Almac will develop a next-generation sequencing test that detects the gene fusions repotrectinib targets and will submit the test for regulatory approval. Once developed, the co-diagnostic will initially be performed by Almac’s CLIA-accredited laboratory in Durham, North Carolina. “Almac provides us with deep experience in the development and regulatory approval of next-generation sequencing diagnostic assays, which will enable the selection of patients who may not otherwise have access to a targeted therapy like repotrectinib,” said J. Jean Cui, PhD, founder, president, and chief scientific officer of TP Therapeutics.

RTI International, Asuragen Collaborate on Newborn Screening for Rare Conditions

RTI International and Asuragen have validated a new screening technology to test for fragile X syndrome in newborns that will now be used in the North Carolina-based Early Check study. Led by RTI International, Early Check is designed to identify children with rare health conditions before symptoms appear and study the benefits of early interventions. After receiving the mother’s consent, Early Check reuses the same blood sample taken for regular newborn screening to test for additional rare conditions free of charge. The new test developed with Asuragen’s technology will enable the study to include fragile X syndrome screening, which has previously been limited by the lack of an accurate high throughput method that works for both boys and girls. “We are proud to partner with RTI International on Early Check,” said Gary Latham, PhD, senior vice president of research and development at Asuragen. “We hope that the use of this technology in such a large-scale study will help to drive how testing of newborns for many genetic disorders can be realized in the future.”