Why More Clinical Labs Are Turning to Whole-Genome Sequencing for Cancer - Seite 2

Global adoption and programs
In March 2021, a landmark paper from Eric Duncavage, David Spencer, and 25 others at Washington University School of Medicine showed that WGS yielded 25% additional diagnostic information over standard-of-care testing (PCR, karyotyping, FISH-each of which were done in different labs, making the logistics for WGS easier as well; WGS is also more amenable to automation and scalability).

A recent paper in Nature demonstrated the utility of WGS in more than 13,000 tumors from Genomics England's 100,000 Genomes Project. The United Kingdom's National Health Service was the first to approve WGS at a national level, and the country has about seven regional labs that can run WGS. This adoption inspired similar national WGS initiatives in Germany, Sweden, and elsewhere-and the leading institutions in these countries (such as Karolinska Institute, part of Genomic Medicine Sweden, and Munich Leukemia Laboratory) are focusing on rare cancers, leukemias and lymphomas, and pediatric cancers.

In 2023, the United States' National Comprehensive Cancer Network recommended WGS for acute myeloid leukemia (AML), a major step for precision oncology. That same year, Medicare Administrative Contractor MolDX approved reimbursement of WGS for AML.

WGS and the MRD advantage
Daniel came to Illumina to join the Oncology Medical Affairs group, where he focuses on work in molecular residual disease (MRD) testing, ctDNA-based assays, WGS, and other emerging applications in cancer. He coordinates with cross-functional teams to engage and host collaborations in cancer-related diagnostics in the US, Europe, and other regions. He is a board-certified molecular pathologist with extensive experience in establishing and directing molecular oncology and molecular genetics labs in academic institutions and in large reference labs.

MRD testing assesses the potential risk for cancer recurrence and offers a method of detecting cancer relapse before standard modalities such as CT or MRI. It can also be used to assess the effectiveness of a cancer treatment for an individual by defining the state of the molecular disease at any point in time. To tell whether a treatment is working or not requires administering the test on two occasions-for example at the beginning of therapy or mid-regimen and at the completion of the regimen. If a patient's results move from positive to negative after therapy, it not only informs doctors that the treatment was effective, it provides that information much sooner (rather than having to wait two years after therapy has ended for a scan to reveal that the cancer has come back). MRD can also be used for surveillance or longitudinal monitoring in a setting where cancer patients have reached a state of remission and are in long-term follow-up.