Llorin H, Graf M, Chun N, Ford J. Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing. Cancer Genetics, 268-269, pp. 22–27. PMID: 36116289
Like there is often more than one road leading to a destination, there is also more than one path to identify if a patient is at risk for having a hereditary form of cancer. Use of tumor genomic profiling (TGP) has become widespread in guiding design of therapeutic cancer treatments. TGP data can also be used to elucidate the etiology of a tumor. Pathogenic variants found in specific genes included on TGP can indicate a hereditary cancer syndrome in the patient. While the National Comprehensive Cancer Network® (NCCN®) guidelines regarding the use of TGP in identifying hereditary cancer syndromes have been around for a few years, Hannah Llorin and her committee members sought to investigate outcomes for newly eligible moderate risk breast and ovarian cancer genes, namely ATM, BRIP1, CHEK2, PALB2, RAD51C, and RAD51D. Specifically, they examined how often tumor genomic profiling TGP detects pathogenic variants in these genes, how often patients with those pathogenic variants receive germline testing as is recommended by NCCN® criteria, and the yield of germline testing for these patients. Hannah and her committee concluded that the presence of TGP-identified mutations in moderate risk breast and ovarian cancer genes broadens eligibility for and captures more individuals with hereditary cancer syndromes than the reliance on personal and family history criteria alone.
Hannah collected the data published in the featured article as part of her Master’s Program in Human Genetics & Genetic Counseling research project at Stanford University. She stated, “I have a deep gratitude for my co-authors, particularly my thesis mentor Madeline Graf. She went above and beyond to help me through the research process. It was important to me to give my co-authors recognition through publishing this work.”
Hannah has been involved in clinical genetics research since entering the field as a genetic counselor at the Center for Fetal Medicine at Brigham and Women’s. She stated, “I see clinical research as a natural—and for me, a necessary—compliment to my clinical and educational responsibilities.” Hannah identifies as queer and stated, “I have a special interest in LGTBQIA+ advocacy, and am advising several projects which seek to understand how sex chromosomes are discussed in medical settings, and the perspectives of trans and intersex people on how this can be improved.” In addition, Hannah’s most recent research focused on prenatal diagnosis. She stated, “We have a few manuscripts under review that focus on the utility of single-gene NIPT and cord blood in prenatal diagnosis—stay tuned!”
Hannah has recently accepted a new position at 23andMe as a Genetic Counselor in their Genomic Health team where she will provide genetics education with the aim of integrating genomics more thoroughly into primary care. She said, “I am excited to conduct outcome research on genetics education initiatives and assist in the larger clinical research efforts at the company.”
For genetic counseling students interested in contributing to research in the field of genetic counseling, Hannah offers her advice: “I very much encourage trainees to speak to their clinical supervisors as well as the physicians and advanced practice providers who work with them, and ask 1) what clinical questions have been asked by their team and 2) what patient data is available to answer these questions.” She added, “Trainees may very well end up providing an answer that their supervising genetic counselors and the larger medical team have been searching for years, and gain in-depth content knowledge and valuable epidemiological skills along the way.” Hannah also encourages genetic counselors interested in research to negotiate for research time and resources at the time a job is offered.
Sara Spencer, MS, CGC graduated from Sarah Lawrence College in 2006 and was certified by the ABGC in 2007. She is currently a Genetic Counselor and an Assistant Professor in the Division of Clinical Genetics at Northwestern Medicine/University.