Lineagen has teamed with PWNHealth to expand access to its chromosomal microarray FirstStepDx Plus and the whole exome sequencing test NextStep Plus, both of which claim to pinpoint genetic causes of developmental delay and autism spectrum disorder in children. PWNHealth is a telemedicine company that aims to bring oversight to direct-to-consumer genetic testing. The company has established a nationwide physician and genetic counselor network that includes more than 100 labs and technology platforms designed to support a broad range of healthcare consumers. Under the terms of the partnership, consumers will be able to order Lineagen’s tests with the guidance of a licensed healthcare provider through PWNHealth’s digital platform.

“We’re delighted to partner with Lineagen to bring greater access to the clinical benefits of genetic testing to [families dealing with developmental disorders],” said PWNHealth’s medical director of genetic services, Paldeep Atwal, MD. “Our mission is to bridge the gap between consumer demand for genetic testing and the need for medical oversight and sound clinical genetic expertise. Our model integrates physicians and genetic counselors in a way that safeguards the consumer and ensures appropriate follow-up and guidance on results.”

IBM Watson Health, Broad Institute Partner to Predict Risk of CVD

Over the past 2 years, the healthcare community has strongly criticized IBM Watson Health for not delivering on its promises, especially about Watson for Oncology, which physicians report often gives incorrect treatment recommendations. In spite of Watson for Oncology’s struggles, however, the Watson Health division of IBM is continuing its efforts to harness artificial intelligence (AI) to enable personalized medicine. Most recently, IBM Watson Health expanded its existing partnership with the Broad Institute of the Massachusetts Institute of Technology and Harvard to focus on cardiovascular disease. This 3-year initiative will build algorithms that identify and learn from trends in population-based and hospital-based biobank data, genomic information, and electronic health records. With this AI technology, the partners ultimately aim to produce models that will help clinicians predict with greater accuracy the onset of conditions such as heart attacks, sudden cardiac death, and atrial fibrillation.

Diploid, Genomenon Team to Improve Analysis of NGS Data for Rare Disease Diagnosis

Diagnostic software provider Diploid has partnered with the genomic search company Genomenon to improve genome interpretation for rare disease diagnostics. Using Diploid’s Moon software, labs input next-generation sequencing data along with a patient’s symptoms, sex, and age of disease onset. Moon then employs artificial intelligence algorithms and a disorder model to suggest causal variants in 2 minutes for whole exome sequencing data and in 5 minutes for whole genome sequencing data. “This … saves clinical laboratory scientists a lot of time compared to manually filtering and curating hundreds or even thousands of variants,” said Peter Schols, Diploid’s founder and CEO.

Through the collaboration with Genomenon, Diploid aims to make the process of evaluating the variants reported by Moon even more efficient. Genomenon’s Mastermind genomic search engine filters and prioritizes millions of genomic articles to find the most useful and meaningful citations. The integration between this platform and Moon will enable Moon users to see which candidate variants are mentioned in relevant publications.

Epilepsy Society, UCB to Study Genetics of Treatment-Resistant Epilepsy

The U.K.-based Epilepsy Society has joined forces with UCB, a biopharmaceutical company headquartered in Belgium that also has a significant research and development hub in the U.K. The two organizations will use whole genome sequencing to study the genetic components of epilepsy, with the hope that this research will eventually result in better targeted treatments for the disease, as well as improved diagnosis. The 5-year collaboration will focus specifically on people who do not respond to currently available epilepsy medications. The first phase will generate and analyze individual categories of data that potentially have a role in determining drug response, with an initial focus on the role of genetics. In the latter phases, the project will integrate these different data sets to understand how they act together. “We hope this collaboration could help in the development of tools to better identify difficult-to-treat patients earlier, and ultimately to develop tailored and targeted medicines which could bring significant value to these patients in the future,” said Dhaval Patel, MD, PhD, executive vice president and chief scientific officer at UCB.

MRM Proteomics, Biodesix Join Forces on Multi-Omics Lung Cancer Tests

MRM Proteomics and Biodesix are collaborating to develop precision lung cancer assays. Under the terms of the partnership, MRM Proteomics will license to Biodesix its proprietary technology for high-throughput clinical proteomics known as immuno-matrix-assisted laser desorption/ionization (iMALDI). The iMALDI approach involves spiking protein digest from a biological sample with a stable isotope-labeled standard peptide matching the target, after which the endogenous peptides and standard peptides are co-captured on antibodies conjugated to magnetic beads. The peptides eluted from the antibodies are then analyzed with MALDI mass spectrometry. With this technology, Biodesix plans to develop blood-based lung cancer tests that use a multi-omics approach to reveal a more complete molecular profile of a patient’s disease. “Examining a patient’s genomic data has advanced targeted therapies. However, proteins are the targets of most drugs and hold the key to unlocking the promise of precision medicine,” said Christoph Borchers, PhD, chief scientific officer for MRM Proteomics.

ArcherDX Buys Genetic Testing Lab Baby Genes

ArcherDX, a molecular technology company dedicated to advancing personalized genomic medicine, has acquired Baby Genes, a privately held CLIA-certified laboratory that offers newborn and carrier screening genetic testing. Baby Genes’ test menu includes a supplemental newborn screening panel that interrogates more than 100 genes covering more than 72 clinically actionable, inherited conditions, as well as pre-defined carrier screening tests that include full-gene sequencing for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. In addition, the laboratory also offers customized confirmatory and reflex genetic testing services to physicians. Under the terms of the acquisition, Baby Genes will continue to operate as a wholly owned subsidiary under the name ArcherDX Clinical Services. It will leverage the existing ArcherDX research and development functions, which are based in Boulder, Colorado, while consolidating all commercial profiling services for both companies in Golden, Colorado, where Baby Genes’ laboratory is currently located.