The BAP1 Tumor Predisposition Syndrome

Robert Pilarski, is Clinical Affairs Director at Ambry Genetics working on aligning payer policies and national genetic testing guidelines. Prior to this he was a licensed and board certified genetic counselor and Professor of Clinical Internal Medicine at the Wexner Medical Center and James Comprehensive Cancer Center at The Ohio State University. Mr. Pilarski’s clinical responsibilities included counseling patients and families with a variety of hereditary cancer syndromes. In addition he researched on clinical aspects of Cowden syndrome and the PTEN Hamartoma Tumor syndrome (PHTS) and he was the study coordinator and co-investigator for the OSU Breast Cancer Tissue Bank and a study on the Genetics of Uveal Melanoma, which helped identify BAP1 as a tumor predisposition gene. He has over 90 publications in medical and scientific journals. He has presented regularly at national and regional conferences, and has served as an ad hoc review for numerous medical and genetics journals. Mr. Pilarski was a past board member of the National Society of Genetic Counselors, and co-founder and past president of its Cancer Genetics Special Interest Group. Until joining Ambry Genetics he was the vice-chair of the National Comprehensive Cancer Network’s guidelines panel on Genetic/Familial High Risk Assessment: Breast and Ovarian Cancers, which set testing and management guidelines for individuals at risk for hereditary breast and ovarian cancers.

Jill S. Dolinsky, MS, CGC is the Director of Clinical Affairs at Ambry Genetics. In this role, she drives efforts to enhance patient access to genetic testing by demonstrating the clinical utility of molecular genetic testing through data sharing, peer-review publication, and engagement with professional societies. Her current research interests include the clinical utility of multigene panel testing for hereditary cancer and cardiovascular diseases, the importance of broad data sharing in the interpretation of genomic data, increasing patient access to genetic counseling and testing through innovative service delivery models and the assessment of rare variants. Prior to joining Ambry in 2011, she worked in cardiovascular genetics at the University of Miami Miller School of Medicine, researching genetic etiologies of familial dilated cardiomyopathy along with practicing clinical cardiovascular genetics. In addition, she spent four years practicing cancer genetic counseling in the University of Pennsylvania Health System. She has more than 50 peer-reviewed publications in molecular genetics and has been an invited lecturer at numerous scientific meetings.