Submitting Good Clinical Data – ​Why it Matters with Jessica Grzybowski, MS, CGC, Tina Pesaran, MA, MS, CGC, and Rob Pilarski, MS, LGC, MSW

  • This session will highlight the various ways that good clinical data is used by genetic testing labs, illustrate problems with the quality of data that are sometimes submitted with samples, and review the methods that are used to overcome poor data and standardize data recording for use across data platforms and multiple collaborating research groups.

    Level of Instruction: Intermediate

Lead Genetic Counselor, Reporting - RNA, Ambry Genetics

Jessie is Lead Genetic Counselor of RNA on the Oncology team at Ambry Genetics. She obtained her Bachelor of Science degree in Biology from University of Wisconsin and Master of Science degree in Genetic Counseling from Northwestern University in 2008. Prior to joining Ambry in 2014, Jessie was a clinical cancer genetic counselor at The Medical College of Wisconsin. Jessie is currently the Chair of Social Policy for the Wisconsin Genetic Counselors Association and is actively working on Genetic Counselor licensure for her state.

Director, Variant Classification Program

Ms. Pesaran received her master’s in microbiology, immunology and molecular genetics from UCLA, studying the genetics of cardiovascular disease. She then received her master’s in genetic counseling from California State University, Northridge. Prior to joining Ambry Genetics in 2011, Mrs. Pesaran worked as a clinical cancer genetic counselor for 8 years. She is the Director of Ambry Genetics’ Genomic Services and Curation Program which encompasses Ambry’s Variant Assessment Team and Gene Team, a multi-disciplinary team of scientists focused on gene-disease validity, complex variant assessment and advancing variant assessment standards. Her current research interests include gene and disease specific classification nuances and the improvement of variant classification using scalable functional and computational methods. She has co-authored several peer-reviewed publications related to qualitative and quantitative approaches to variant classification and has contributed book chapters on the practice of variant classification. Ms. Pesaran is a member of the ClinGen Sequence Variant Interpretation Working Group, which provides support to variant curation expert panels developing gene-specific modifications to the ACMG/AMP guidelines. She is also a member of several ClinGen expert groups within the Hereditary Cancer domain as well as the ENIGMA and InSiGHT international variant interpretation committees.  Ms. Pesaran is a strong supporter of data sharing and is a member of the Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team.

Clinical Affairs Director, Ambry Genetics

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.

Director, Clinical Affairs, Ambry Genetics

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.

  • Thu, March 10, 2022
  • 11:00am PST
  • Duration: 1 hour
  • C.E.U.
    1 Category 1 Contact Hour
  • P.A.C.E. 1 unit

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