Researchers at the Mayo Clinic Comprehensive Cancer Center are making significant strides in cancer precision genomics by refining a novel germline testing method using DNA extracted from hair follicles. This innovation, particularly beneficial for hematologic malignancies, aims to improve the identification of hereditary cancer predispositions. In a study involving 144 patients with known germline predisposition syndromes, this hair follicle DNA extraction technique was validated, showcasing its potential to transform oncological testing. The Mayo Clinic Laboratory Medicine and Pathology has also earned accreditation from the College of American Pathologists (CAP) and certification from the Clinical Laboratory Improvement Amendments (CLIA), further underscoring the method's reliability and impact.
Traditional germline testing for blood cancers often involves DNA extraction from skin biopsies, a procedure that carries risks such as infection, bleeding, and complications for patients with low blood counts—a common issue in hematologic disorders. The skin biopsy method is also costly and time-consuming, with results taking up to seven weeks. In contrast, the hair follicle DNA extraction technique is less invasive and requires only about 20 hair follicles. This method reduces patient discomfort, minimizes procedural complexity, and significantly cuts both time and costs, providing faster and more efficient results.
Mrinal S. Patnaik, M.B.B.S., a hematologist-oncologist at Mayo Clinic, highlighted the benefits of this advancement, stating, "In addition to improving patient care and reducing costs, the faster approach increases the efficiency of testing processes, allowing for quicker decision-making in treatment plans." The speed of this method could be crucial in urgent cases, such as determining whether related donors for allogeneic stem cell transplants share the same genetic risks, thereby minimizing the risk of donor-derived leukemias.
Dr. Patnaik emphasized the growing recognition of hereditary cancer risks, noting, "Increasing data suggest that maybe even 1 in 5 cancer patients have a hereditary predisposition. This underscores the critical need for germline testing as part of our cancer precision genomics program."
The technique’s clinical validation, demonstrated through a study published in the American Journal of Hematology in November 2021, confirms its efficacy compared to the traditional skin biopsy method. As part of Mayo Clinic's broader goal, they envision distributing hair follicle collection kits to patients for at-home use before their clinic visits, making the process even more convenient and enhancing patient compliance.
Looking forward, Mayo Clinic plans to expand the use of this method to all patients at the Cancer Center, particularly those with advanced cancers. This development is set to revolutionize germline testing, providing a faster, more accessible, and more efficient approach to precision medicine. The clinic’s dedication to enhancing diagnostic processes and improving patient care positions this innovation as a major leap forward in cancer treatment.