New Industry Collaborations Pursue Innovative Solutions: January 2021 News

This month, there have been a number of new collaborations among industry stakeholders that promise to have a lasting impact on the future of disease diagnosis and personalized therapeutics. It’s been exciting to see the speed at which COVID-19 vaccines have been approved for use and rolled out around the world—evidence of the outstanding progress that’s possible when organizations work together toward a common goal.


A new organization has been formed by seven leading diagnostics companies and lab service providers to advocate for health insurance coverage of comprehensive genomic profiling (CGP) for patients with advanced cancer. The Access to Comprehensive Genomic Profiling Coalition (ACGP) plans to educate insurers and other stakeholders on the value of CGP both economically and for improved patient outcomes. Without the testing, some patients may not receive the most effective treatments and may suffer more side effects. Current members of the coalition are Exact Sciences, Foundation Medicine, Illumina, LabCorp, QIAGEN, Roche Diagnostics, and Thermo Fisher Scientific.

Q2 Solutions, an IQVIA and Quest Diagnostics joint venture, is collaborating with Adaptive Biotechnologies to provide clinical trial services leveraging immunoSEQ® Assay—Adaptive’s next-generation sequencing (NGS) based immunosequencing solution. The assay offers drug development companies a better understanding of adaptive immune responses, including to COVID-19, based on T-cell characteristics and dynamics.

Illumina and Helix are working together to track the emergence and prevalence of the new SARS-CoV-2 UK variant in the U.S. According to their news release, they’ve already been able to identify 51 of the first 54 cases of the new variant, with Helix analyzing recent samples and identifying those with “S gene dropout” (indicating the potential presence of the variant) and Illumina sequencing a subset of these samples. This type of collaboration will help the CDC detect other emerging variants as well. As Dr. Phil Febbo, M.D., Chief Medical Officer of Illumina said, “Genomic surveillance is essential in fighting the pandemic.” Helix has launched a dashboard that will be regularly updated with their results.

Illumina also announced an agreement with Harvard Pilgrim Health Care to make whole-genome sequencing (WGS) available for Harvard Pilgrim pediatric patients. The two organizations will share the risk of genetic testing costs and “prepare a peer-reviewed study for publication evaluating how insurance coverage of WGS impacts patient care and healthcare costs.” The quicker healthcare providers can diagnose genetic conditions, the better outcomes we can expect to see for patients—good news for patients, healthcare providers, and payers.

Researchers at Weill Cornell Medicine, New York Presbyterian, and the New York Genome Center, with support from Illumina, are collaborating on a study to research the diagnostic value of whole-genome sequencing in cancer, heart disease, diabetes and other endocrine diseases, and neurological disorders. Although a disease-causing variant turns up in about 10% of cases, it’s not always easy to translate those results into useful insights for clinicians, yet. But simply identifying them is an impressive first step!

Other news

In mid-2020, Canexia Health launched Project ACTT, a program that provides circulating tumor DNA (ctDNA) as an alternative to surgical tissue biopsies for patients with metastatic or recurrent breast, lung, or colorectal cancers. Semaphore is proud to be a partner in Project ACTT. With COVID-19 delaying hundreds of thousands of surgeries in Canada, ctDNA testing has filled a critical gap. In an update on the program, Canexia Health reports that almost 750 Canadian cancer patients have received testing, with reportable findings identified in 49% of samples. The program has been expanded across the country, including to rural areas that might not otherwise have easy access to specialized testing. It’s exciting to see this valuable initiative gaining momentum, and we hope the federal government continues to support expanding the program even further.

Global Alliance for Genomics and Health has announced the launch of a new not-for-profit entity—GA4GH Inc. The mission of the newly incorporated organization is to “accelerate progress in genomic research and human health by cultivating a common framework of standards and harmonized approaches for effective and responsible genomic and health-related data sharing.” According to CEO Peter Goodhand, the GA4GH has already established “significant commitment and support from the international genomics community,” which bodes well for its goal to become an international standards organization for genomics data.

Helix has been granted FDA authorization for its whole-exome sequencing platform. This is a significant advance for the genomics sector because it marks the first time the FDA has authorized a whole-exome sequencing platform. The company has also received clearance for the Helix® Genetic Health Risk App for over-the-counter use on the Helix® Laboratory Platform, which will help with identifying individuals with increased or decreased risk of developing late-onset Alzheimer’s Disease.

Delfi Diagnostics has raised $100 million in Series A funding to develop a new class of early-detection liquid biopsy testing for multiple cancers based on altered genome-wide fragmentation profiles (known as “fragmentomes”). The funding will help the company expand its team and clinically validate its novel next-generation liquid biopsy technology through prospective studies.

As the industry continues to grow and advance, now is the time to invest in the software backbone and IT infrastructure your lab needs to support the development of innovative new solutions and the scaling up of clinical testing.

Read our other posts and check out our Laboratory Software Services pages to see how we can help your molecular diagnostic laboratory grow.