Transcription

• Stevon Burrell

  The CAP launches 21 PT programs for 2026 and optical genome mapping with Dr. Ying Zhou. Coming up next on the Path News Network Daily Edition. This is the Path News Network Daily Edition, powered by the College of American Pathologists. I'm Stevon Burrell. It's Thursday, October 23rd, and here are the latest headlines. Lab directors will see expanded options to verify their accuracy in 2026. The CAP has introduced 21 new proficiency testing, or PT, programs, including Global First in Microbiology, Transfusion Medicine, and Instrument Verification. CAP President Dr. Jim Zhai said, quote, "These innovative PT programs give laboratories the tools they need to deliver accurate, reliable patient care." Later in the show, we'll explore one new program, Optical Genome Mapping, with CAP member Dr. Ying Zou. And the CAP is inviting feedback on new draft recommendations for measurable residual disease testing in B lymphoblastic leukemia. The comment period runs now through October 29th. The draft recommendations address the use of flow cytometry, PCR, and next-generation sequencing. To comment, visit the link in the show notes. Before the AMP annual meeting event begins, pathologists can sharpen their inspection skills in Boston. On Tuesday, November 11th from noon to 5 p.m. Eastern, the CAP will host a molecular pathology inspector training seminar at the Omni Boston Hotel at the Seaport. Led by Dr. Earle Collum, Dr. Michael Datto, and Christine Braun, the session covers inspection techniques and checklist requirements for labs performing next-generation and Sanger sequencing. Participants will earn CME or CE credit and trained status as CAP inspectors. For registration and full details, check the link in today's show notes. And finally, Optical Genome Mapping or OGM is reshaping how labs detect structural DNA changes that older methods often miss. Joining us to explain its impact is Dr. Ying Zou, co-director of the Cytogenetic and Genomic Lab at Johns Hopkins School of Medicine and member of the CAP ACMG Cytogenetics Committee. Dr. Zhou, what is optical genome mapping and why is its development important for addressing current scientific and clinical needs?

• Dr. Ying Zou

  So, Optic Genome Mapping, the OGM, is a new cytogenetics method that analyzes ultra-long DNA molecules, typically over 150 kBase pairs, by labeling specific sequence motifs, like the 6-Base pair site CTTAAG, which appears roughly every 6,000 bases in the human genome. Those labeled molecules are stretched into nano-channels, imaged with high-resolution cameras, and assembled into detailed genome-wide maps. So those maps reveal the structure variants, or SVs, like insertions, deletions, games, and inversions, translocations, and copy number variants. down to about 500 base pairs in resolution covering the entire genome. Clinically, OGM is a game changer for positional medicine, offering a single test to detect all SV types, which is important for diagnosing conditions like cancer, leukemia, or developmental disorders where hidden SVs affect treatment decisions. With updated WHO and ICC guidelines defining comprehensive genomic data, OGM feels an important gap, reducing diagnostic delays and enabling targeted treatments for our patients.

• Stevon Burrell

  Now, how does OGM improve laboratory quality? and accuracy compared to other more traditional methods.

• Dr. Ying Zou

  Traditional cytogenetics methods like conventional chromosome analysis or karyotyping, which has a resolution of 2 to 10 million base pairs, or chromosomal SNP microarray or CMA chromosomal microarray assay, which detects the copy number of variants of about 50 to 100 kilobase pairs, but misses balanced rearrangements. Therefore, we need to require multiple tests to catch all SVs. So those traditional methods led to fragmented workflows, turnaround times of two to four weeks, and higher costs. It delivers results in three to seven days. So OGM's uniform genome coverage, including repetitive regions, reduces errors from gaps seen in old traditional methods. Plus, its bioinformatics tools use advanced references for SV calling, even for complicated rearrangement like chronotripsis events. So in short, OGM simplifies lab workflows, boosts accuracy, and cut variabilities, making it a robust replacement for multi-assay and traditional approach.

• Stevon Burrell

  Dr. Zou, from your perspective, what impact can OGM have on patient outcomes and the overall quality of healthcare delivery?

• Dr. Ying Zou

  Yeah, the OGM is useful because it directly addresses diagnosis and treatment challenges for our patients by detecting SVs that the traditional methods miss. OGM can reclassify up to 17% of the cases in genetic disorders and 12 to 23% of the cases in cancers like acute leukemia. So this means faster, more accurate diagnosis, which is huge for patients facing diagnosis difficulties. So for example, OGM can identify actionable gene fusions in leukemia that qualify patients for targeted treatment or clinical trials, potentially improving a patient's survival rate. For healthcare delivery, OGM simplifies systems by replacing traditional multiple tests with one, cutting costs, and turnaround times. This allows physicians and clinicians to quickly stratify risks using updated WHO and ICC guidelines, ensuring patients get the right treatment sooner. By providing clear genomic insights, OGM supports personalized medicine, potentially boosting survival rates. such as in blood cancers by 10 to 20 percent. Finally, it empowers unbiased evidence-based care, reducing emotional and financial burdens, and improving quality of life for our patients.

• Stevon Burrell

  For labs who are looking at this new product, Florida Renewal 26, what are any final thoughts that you would like to let them know? just to keep in mind or have them remember about the importance of OGM and why they should, you know, actually get the product.

• Dr. Ying Zou

  Yeah, OGM is more than a method or tool. It's next generation genetics. For researchers, it's unlocking new insights into genetic architecture across species. So for our physicians and clinicians, it's a path to... positional diagnosis, personalized medicine that can save lives. And for patients, it offers hope for answers and a guide to targeted treatments. So my advice to everyone listening, whether you are in the lab or clinical or, you know, promoting for your patients, is to accept optical genome mapping and push for the validation studies, the standardized reporting, and involving CAP OGM proficiency test surveys. So let's use it to map genomes and improve patients' outcomes together.

• Stevon Burrell

  That's all we have for today. You can find us on Apple Podcasts, Amazon Music, or Spotify. Subscribe on your favorite platform. Look for more news like this in our weekly newsletters published every Tuesday and Thursday. We're back tomorrow at 5 a.m. Eastern with more CAP News. For The Daily Edition, I'm Stevon Burrell. Have a great day.