Advancements in Cancer Predisposition Testing at St. Jude Children's Research Hospital

Dr. Kim E. Nichols, a prominent figure in pediatric oncology, has been instrumental in the establishment of the Cancer Predisposition Clinic at St. Jude Children's Research Hospital. Her journey began during her medical training in the 1990s, a period marked by significant breakthroughs in understanding hereditary cancers. Landmark discoveries, such as the identification of mutations in the RB1 gene linked to retinoblastoma and the BRCA1 and BRCA2 genes associated with breast and ovarian cancer, paved the way for genetic testing in cancer risk assessment. Nichols faced skepticism from her peers regarding the testing of children for hereditary cancer risks, as many believed it would only induce unnecessary anxiety. Undeterred, she initiated a predisposition program for children, eventually joining St. Jude in 2014, where she could leverage the Pediatric Cancer Genome Project (PCGP) to enhance cancer care.

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The PCGP, launched in 2010, aimed to map the genomes of children with cancer, leading to the identification of genetic changes that drive cancer development. Since the clinic's inception in 2015, over 5,200 patients have been seen, with more than 1,100 identified with hereditary predisposition syndromes. Nichols emphasized the importance of transitioning genomic research into clinical practice, stating, “I feel very fortunate Dr. Downing was very keen on having me come help transition genomic testing from the research space into the clinical space.” This integration has allowed for early detection and management of cancer risks, significantly improving patient outcomes.

Understanding genomes helps identify kids more likely to develop second cancers

All patients at St. Jude are now offered screening for 123 genes associated with cancer predisposition. This proactive approach has revealed that nearly 20% of children with cancer carry genetic mutations that increase their cancer risk. For instance, Claudia, a patient diagnosed with rhabdomyosarcoma, underwent genetic testing that confirmed a DICER1 mutation, leading to enhanced surveillance for additional cancers. Early detection through this surveillance enabled the successful treatment of her thyroid and ovarian cancers. Nichols noted, “Surveillance is not going to prevent cancer, but the goal is to pick up subsequent tumors at their earliest and most curable stages.”

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Despite the advancements, challenges remain in the broader implementation of genetic testing. A study indicated that while about 20% of ovarian cancers are linked to hereditary predispositions, less than half of patients diagnosed in the U.S. receive germline genetic testing. Variability in practitioner approaches contributes to persistent barriers in testing rates. Nichols advocates for comprehensive molecular testing to identify all patients at risk, moving beyond traditional methods that rely on family history and clinical features.

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The Cancer Predisposition Clinic is not only focused on immediate patient care but also on preparing young patients for lifelong health management. For example, Javier, diagnosed with Li-Fraumeni syndrome, is being educated on the importance of regular screenings and self-advocacy in his healthcare journey. Nichols stated, “Cancer predispositions are often lifelong – thus learning how to advocate for one’s health is very important.” The clinic's transition program aims to ensure that young adults with genetic predispositions can navigate their healthcare effectively as they age.

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The work of Dr. Kim E. Nichols and the Cancer Predisposition Clinic at St. Jude Children's Research Hospital exemplifies the transformative potential of genetic testing in pediatric oncology. By integrating research findings into clinical practice, the clinic not only enhances early detection and treatment strategies but also empowers patients and families to understand and manage their cancer risks effectively.

Understanding genomes helps identify kids more likely to develop second cancers