My clinical, research, and teaching activities are focused on clinical expertise and innovation in delivering clinically effective and appropriate diagnostic genetic testing services related to genetic disorders, including inherited cancer predisposition. Leveraging molecular science to improve patient care is my passion. My main clinical and research area is currently Neurofibromatosis (NF), and I direct the Multidisciplinary Neurofibromatosis Program at Boston Children’s Hospital. I also direct a philanthropically-funded research initiative focused on advancing pre-clinical research towards effective treatment of NF1-related tumors. Related to my interest in tumor predisposition among patients with NF1, I am also involved in clinical laboratory testing for inherited cancer predisposition at Brigham and Women’s Hospital. I have extensive experience interpreting the clinical significance of all types of genetic variants, including chromosomal and structural variation, single gene disorders, and complex genetic disorders. I have published numerous articles on the topic of clinical genetic testing, including diagnostic yield and clinical utility. I am active at the national level in forming policy around clinical care for NF1 and clinical application of germline genetic testing in cancer predisposition through my role as the Chair of the American College of Medical Genetics (ACMG) Professional Practice and Guideline Committee, and the Co-Chair of ACMG’s Working Group on Secondary Findings related to genomic sequencing.