PC Project’s collaborative work with Fulgent Genetics was represented by Shabri Rathod, MS, CGC, a laboratory genetics counselor, at the American Society of Human Genetics Meeting, Nov. 5-9, 2024 in Denver, Colorado.
Shabri’s submission was selected as a “Reviewers’ Choice Abstract” because it was scored in the top 10% of poster abstracts. It was highlighted in the Exhibit & Poster Hall with a Reviewers’ Choice ribbon.
If you have received a genetic diagnosis through the International PC Research Registry over the past 3 years, whether it be a PC variant, or one that causes a similar rare skin disease, most likely Fulgent Genetics did the testing on our custom 49 gene panel. All cases are reviewed and results physician-verified by our PC genetics team. The results have only empowered our knowledge about PC and other skin conditions with painful palmoplantar keratoderma.
Getting an accurate diagnosis is especially important because we have had some patients join the registry with existing reports from other labs – NOT Fulgent – which were wrong or where the correct variation did not make sense when compared to the patient’s registry answers and photos of their symptoms. When we re-test them through, the patients get a correct diagnosis. We’ve learned that when dealing with rare skin diseases such as PC, working with a lab that can provide accurate results is critical.
Thankfully, though the International Pachyonychia Congenita Research Registry (IPCRR), the International PC Consortium (IPCC) Genetics Team and Fulgent we are providing life changing services and increasing our knowledge about these rare skin diseases.
Shabri wrote, “I was first introduced to the PC Project and pachyonychia congenita as a rare disease after working with Holly Evans and Janice Schwartz in January 2024 to address uncertain genetic testing results. These results were for a family referred for genetic testing through Fulgent Genetics by the IPCRR, and they were impacted by the molecular complexities associated with the KRT6A, KRT6B, and KRT6C genes. Over the next six weeks, a team of dedicated personnel from Fulgent—including bioinformaticians, wet lab staff, curation scientists, lab directors, and genetic counselors—collaborated with insights from the PC Project team to resolve the uncertain findings. Our primary goal was clear: to deliver high clinical utility and standard of care to our mutual patients and ensure positive outcomes. Being closely connected to the patient experience is important to me as a Genetic Counselor, and I value the opportunity to share with the medical community how we can make a meaningful difference for pachyonychia congenita patients by providing thoughtful and well-researched results.
Earlier this month I had the opportunity to present our abstract and poster presentation at the American Society of Human Genetics (ASHG) annual conference. The research is titled “Molecular Diagnostic Findings of 166 Patients with Pachyonychia Congenita” and highlights the clinical utility of Fulgent Genetics’ Custom Next-Generation Sequencing (NGS) Panel developed for the PC Project and IPCRR. Using a specialized NGS workflow with long-range polymerase chain reaction (PCR) confirmation, we observed positive diagnostic variants in 110 patients, unresolved variants of uncertain significance in 34 patients, and negative findings in 22 patients. During the poster session, I had the chance to introduce medical professionals nationwide to pachyonychia congenita. I also shared resources from the PC Project with physicians who believe they might have encountered a patient with this condition but were unaware of the benefits of enrolling in the IPCRR.
The partnership between Fulgent Genetics, a clinical diagnostic genetic testing laboratory, and the PC Project has enabled us to offer valuable molecular diagnostics to patients, helping them find the answers they seek as well as allowing them access to medical resources and clinical trials. At Fulgent we are excited to continue our diligent and collaborative work with the PC Project, serving our patients with care and dedication.”
