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Payal Khincha Appointed First Lasker Clinical Research Scholar  in DCEG

, by Maura Kate Costello, M.A.

In October 2023, Payal Khincha, M.B.B.S., M.S.H.S., was appointed the first Lasker Clinical Research Scholar in DCEG, a tenure-track position in the Clinical Genetics Branch (CGB). The Lasker Clinical Research program supports a small number of exceptional clinical researchers in the early stages of their careers to promote their development to fully independent positions. Dr. Khincha is an internationally recognized expert in diagnostic methods and clinical management of Li-Fraumeni Syndrome (LFS), a rare, autosomal dominant cancer predisposition syndrome caused by a germline mutation in TP53. Individuals with LFS are at extremely high risk for multiple different cancer types, many with early age at onset. A pediatric hematologist/oncologist by training, she is committed to the study of other inherited cancer predisposition syndromes including inherited bone marrow failure syndromes (IBMFS), dyskeratosis congenita (DC), and Diamond Blackfan Anemia.  

As Lasker Clinical Research Scholar, Dr. Khincha will lead research efforts to develop strategies for cancer prevention in people with LFS, with a particular focus on determining the effectiveness of the drug metformin for chemoprevention, and study its potential to reduce the occurrence of cancer in LFS. Development of a clinical trial of metformin in LFS is underway in partnership with investigators in the Center for Cancer Research (CCR). The protocol will also allow for the understanding the mechanisms of how metformin works in the body, development of novel cancer screening  methods, and the psychosocial impact of the rigorous cancer screening individuals with LFS experience.  

Since 2018, Dr. Khincha has served as the principal investigator for the LFS Study, which comprises over 900 participants from more than 215 families. In this role, she leads a team of nurses, clinicians, genetic counselors, research assistants, and fellows, and oversees the day-to-day management of scientific and clinical study activities. Her research with the LFS Study has led to multiple publications strongly supporting the need for LFS patients to receive comprehensive cancer screening. She led the first study to evaluate reproductive factors and breast cancer risk in women with LFS, which found that breastfeeding for at least seven months was associated with a 43 percent reduction in breast cancer risk. Together with Dr. Christina Annunziata in CCR, her efforts were recognized with a CCR-DCEG Flex Award for the metformin clinical trial. And in a 2021 study of 480 carriers of pathogenic and likely pathogenic TP53 variants enrolled in the LFS study, she and her colleagues further characterized the patterns and incidence of first and second cancer diagnoses in the LFS population in order to inform personalized clinical management and tailored screening. This study was also the first to compare cancer incidence – both overall and broken down by cancer type and age- to that in the general population.  

Dr. Khincha joined CGB in 2012 as a clinical collaborator as she completed the research component of her pediatric hematology-oncology fellowship at Children's National (formerly Children’s National Medical Center), Washington, D.C. She became a clinical fellow in 2014 and was promoted to staff clinician in 2017. Over the past several years, Dr. Khincha has made seminal contributions to the clinical evaluation of inherited bone marrow failure syndromes and telomere biology disorders. She led a multi-institutional study of DC, a rare bone marrow failure disorder, that recognized pulmonary vascular malformation as a novel clinical feature, and was the first to identify adverse effects of specific treatments for DC and associated abnormalities of lipid metabolism. She authored a chapter in the first book to describe guidelines for the diagnosis and management of DC patients (Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines). 

Dr. Khincha earned her medical degree from the Kempegowda Institute of Medical Sciences, Bengaluru, India and residency in pediatrics at Maimonides Medical Center, New York and Children's National. She also holds an M.S.H.S. in Clinical and Translational Research at George Washington University, Washington, D.C..