Scientific Presentations

We support continuing education and secure data sharing through numerous internal and external collaborations. We have held many invited and sponsored educational presentations on a wide variety of topics at academic meetings and conferences, and are happy to share them here. Check back often, as our listing is regularly updated.

Listing by Conference/Meeting

San Antonio Breast Cancer Symposium (SABCS) 2016

The Collaborative Group of the Americas (CGA) 2016

  • Platform Presentation Fulk K, et al. Breast and colorectal cancer risk in monoallelic MUTYH carriers ascertained via multi-gene panel testing.
  • Platform Presentation LaDuca H, et al. MSH6 and PMS2 Carriers Identified by Multi-Gene Testing May Have a Breast-Ovarian Cancer Phenotype.

National Society of Genetic Counselors (NSGC) 2016

  • Thursday September 29, 2016 from 1:30-3:00pm
  • Educational Breakout Session #B12: Banks K, et al. Cancer Risks Associated with Predisposition Gene Mutations Identified by Hereditary Cancer Panel Testing of 85,000 Patients. Collaboration with Guardant Health, Counsyl, Inc., UT Health Science Center at Houston. Ambry speakers: Kelly Farwell Hagman (session coordinator) and Hsiao-Mei Lu.
  • Educational Breakout Session #B14: Alamillo C, et al. Prenatal Diagnostic Exome Sequencing: Genomics for the Next Generation. Collaboration with Baylor Miraca Laboratories, Baylor College of Medicine, Rutgers Robert Wood Johnson Medical Group, Texas Children’s Hospital, University of Colorado School of Medicine. Ambry speakers: Christina Alamillo and Kendra Waller (session moderator). 
  • Educational Breakout Session #B16: Boxer A, et al. When Hoof Beats Mean Horses: New Insights into the Science and Personal Impact of Diagnosing and Treating Alzheimer Disease. Collaboration with University of California, San Francisco, Columbia University Medical Center, B.A.B.E.S. (Beating Alzheimer’s by Embracing Science), Quest Diagnostics. Ambry employee and session moderator: Amanda Bergner. 
  • Friday September 30 2016 (times listed individually)
  • Concurrent Paper #1364, Section C05: Jackson M and Bergner A. BRCA2 mutation carriers may present with primary brain tumors: a review of a multigene panel testing cohort. (10:30-10:45am)
  • Concurrent Paper #1401, Section C06: Castro BA. Prenatal exome sequencing: Issues of clinical utility and beyond. (10:45-11:00am)
  • Concurrent Paper #1229, Section C06: Volz B. "To disclose or not to disclose": An investigation of counselor self-disclosure in the field of genetic counseling. (11:00-11:15am)
  • Sponsored Evening Session #C17: Elliott A and Panos Smith L. "Getting Down and Dirty with Ambry: The Truth About NGS" (6:45-8:00pm; dinner provided)

American Society of Human Genetics (ASHG) 2016

  • Platform Presentation #17, Session 8: Couch F, et al. Cancer Risks Associated with Predisposition Gene Mutations Identified by Hereditary Cancer Panel Testing of 85,000 Patients. 
    External collaboration with Mayo Clinic. Ambry authors: Robert Huether, Carin Espenshied, Rachel McFarland, Tina Pesaran, Holly LaDuca, Jill Dolinsky. (Wednesday, October 19, 9:00-9:15am)
  • Platform Presentation #154, Session 39: Hunter JM,et al. Data Double Take: Three Examples of Atypical Pathogenic Alterations Detected in Exome Sequencing Data. External collaboration with Sidney Kimmel Medical College at Thomas Jefferson University, Stanford University, Nemours Children's Hospital. Ambry authors: Jesse Hunter, Cameron Mroske, Katherine Helbig, Brady Barrows, Jill Cook, Wenbo Mu, Hsiao-Mei Lu, Kelly Farwell Hagman, Sha Tang, Wendy Alcaraz. (Thursday, October 20, 12:15-12:30pm)

Sixth Annual International Symposium on Hereditary Breast and Ovarian Cancer (BRCA) 2016

  • Oral Presentation: Dolinsky J, et al. "Breast and Ovarian Cancer Risks Beyond BRCA1/2 from a Cohort of 15,000 Women Undergoing Multigene Panel Testing." External collaboration. May 13, 8:15-9:45am.

American Academy of Neurology (AAN) 2016

  • Platform Presentation: Bergner A, et al. "Bevacizumab Impact on Hearing Loss Due to Neurofibromatosis Type 2 Associated Vestibular Schwannomas and Associated Biomarkers." External presentation. Ambry employee is Amanda Bergner.
  • Platform Presentation: Newman H, et al. "Diagnostic Exome Sequencing is Successful in Providing Diagnoses Among Patients with Intellectual Disability and Developmental Delay: Strong Family History Correlates with an Increased Novel Genetic Etiology Detection Rate." Presentation 008, Session S20 (General Neurology); April 18, 8:15-8:30am.

Endocrine Society (ENDO) 2016

  • Platform Presentation: Horton C, et al. "Evaluation of a Multi-Gene Panel Test for Inherited Paragangliomas and Pheochromocytomas. Is it Time to Re-Assess Guidelines for Genetic Testing?" Oral Session # OR34-1, April 4, 10:00-11:30am.

American College of Medical Genetics and Genomics (ACMG) 2016

Annual Medical Genomics Symposium (The Genetic Task Force of Illinois)  2016

Listing by Past Conference/Meeting

National Society of Genetic Counselors (NSGC) 2015

  • Pre-Conference Symposium #A02: Ambry speakers: Farwell Hagman K (session coordinator and co-moderator), LaDuca H, Chao E, Tang S, Shahmirzadi L. "Diagnostic Exome Sequencing as the Standard of Care." Collaboration with Columbia University, Baylor College of Medicine, University of California Los Angeles, GeneDx, The Children's Mercy Hospital, Kennedy Krieger Institute, Stanford University, National Human Genome Research Institute-National Institutes of Health, Courtagen (October 21, 2015 from 8:00am-2:00pm)
  • Educational Breakout Session #B06: Babu D, et al. "Practice Guidelines 2.0: Developing High Quality, Clinically Relevant Practice Guidelines." External presentation: Ambry employee is Deepti Babu. (October 22, 2015 from 10:00-11:30am)
  • Vendor Sponsored Session (Lunch Provided): Pesaran T. "Variant Assessment in the NGS Age: Addressing the Challenges of Complex Phenotypes and Moderate Risk Genes." (October 22, 2015 from 11:45am-12:15pm)
  • Concurrent Paper #1362: Guiltinan J, et al. "Preliminary Results of Expanded Hereditary Cancer Panel Testing: Is More Always Better?" (October 23, 2015 at 8:15am)
  • Concurrent Paper #1041: Powis Z. "ACMG Recommended Secondary Findings are Identified in Only 2.25% of Pediatric Patients Undergoing Exome Sequencing." (October 24, 2015 at 2:15 pm)

Child Neurology Society (CNS) 2015

  • Theater Presentation: Tippin Davis B and Bergner A. "Epilepsy Genetic Testing 2.0: Tier Up Your Practice with Newly Discovered Genes." (October 9, 2015 from 12:45-1:15pm).

American Society of Human Genetics (ASHG) 2015

  • Platform Presentation: Helbig K. "A Recurrent Mutation in KCNA2 in Complicated Autosomal Dominant Spastic Paraplegia: An Expansion of the Channelopathy Spectrum and a Novel Disease Mechanism." Collaboration with University of Tübingen, University Hospital Leipzig, Children's Hospitals and Clinics of Minnesota, University of Utah. (Program #54: October 7, 2015 from 3:15-3:30pm, Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel, Session 21).
  • Platform Presentation: Weitzel J. "Somatic TP53 mutations detected in germline testing: The importance of phenotypic correlation in cancer predisposition testing." Collaboration with City of Hope. (Program #85: October 8, 2015 from 3:00-3:15pm, Room 307, Level 3, Convention Center, Session 26).

Asia-Pacific Conference on Human Genetics (APCHG) 2015

  • Sponsored Lunch Symposium Presentation: Dalton E. "Overview of Multi-Gene Panels for Hereditary Cancer."

Society of Gynecologic Oncology (SGO) 2015

  • Invited Focused Plenary Presentation: Panos L. "Using Multi-Gene Testing to Broaden the Understanding of Inherited Endometrial Cancer." 

American College of Medical Genetics and Genomics (ACMG) 2015

  • Invited Theater Presentation: Shahmirzadi L and Chao E. “Practical Applications of Diagnostic Exome Sequencing in Clinical Practice: A Closer Look at Detection Rates and Management Implications.” March 27, 12:30-1:00pm, Exhibit Theater #2.
  • Invited Platform Presentation:  Shahmirzadi L, et al. “Secondary Findings Results Among First 500 Diagnostic Exome Sequencing Cases.” March 26, 8:30-8:45am, Ballroom ABCD.
  • Invited Platform Presentation:  Weltmer EC, et al. “Comparison of Clinical Features in PTEN Positive Patients Ascertained by Single-Gene Testing Versus Hereditary Cancer Multi-Gene Panel Testing.” March 27, 5:15-5:30pm, Ballroom JHG.

American Epilepsy Society (AES) 2015

  • Platform Presentation: Helbig I, et al. "The Phenotypic and Genetic Spectrum of DNM1 Encephalopathy. Collaboration with The Children's Hospital of Philadelphia, University Medical Center Schleswig-Holestein, Clinics Hospital of Ribairao Preto, Kaiser Permanente (San Diego and Los Angeles), University of California-San Francisco, Johns Hopkins Hospital, UCL, Vlaams Instituut voor Biotechnologie, Institute Born-Bunge, Danish Epilepsy Centre, University of Southern Denmark, Núcleo de Génetica Médica.

San Antonio Breast Cancer Symposium (SABCS) 2015

  • Poster Presentation: Kapoor N, Curcio L, Patrick M, Swisher J, West J, Banks K, et al. "Multi-gene panel testing and the cancers identified in patients at risk for hereditary breast cancer" (12/11/15  5:00 pm - 7:00 pm)
  • Poster Presentation: Pritzlaff M, et al. "Multi-Gene Testing in a Male Breast Cancer Cohort: Insights and Unexpected Results."
  • Poster Discussion: Kapoor N, et al. "Multi-Gene Panel Testing and the Cancers Identified in Patients at Risk for Hereditary Breast Cancer." Collaboration with Breastlink. (Program #PD7-05, December 11, 2015 from 5:00-7:00pm)

American College of Medical Genetics and Genomics (ACMG) 2016

  • Dolinsky J (session moderator), et al. "Rising to the Level of Clinical Importance: Challenges to Adjudicating and Reporting Variants Discovered with Genomic Analysis." Collaboration with Greenwood Genetic Center, Emory Genetics Laboratory, University of North Carolina at Chapel Hill, Laboratory for Molecular Medicine at PartnersHealthCare.

American Society of Human Genetics (ASHG) 2014

  • Invited Lunch Presentation: Ness Bartlett T and Shahmirzadi L. "Diagnostic Exome Sequencing in Neonatal Patients: A Rapid Option for Diagnosis and Management in a Fragile Patient Population" 

National Society of Genetic Counselors (NSGC) 2014

  • Invited Educational Breakout Session: Chao EC, Gandomi SK, Gonzalez KF, Clugston A, Rodis J, Boice N. "The Clinical and Psychosocial Complexities of Obtaining a Diagnosis for Rare Genetic Disorders: Navigating the Diagnostic Odyssey" Collaboration with Syndromes Without A Name (SWAN USA), Massachusetts Chapter of the Marfan Foundation, Global Genes/RARE Project.
  • Invited Concurrent Paper: Espenschied C, et al. "The Use of Diagnostic Exome Sequencing in the Identification of a Molecular Diagnosis in Cases Presenting with Cancer Phenotypes" 
  • Invited Concurrent Paper: Gandomi SK, et al., "Expanding the Role of Genetic Counselors in Industry-Based Employment and Emerging Professional Issues: The Intersection of Innovation and Conflicts of Interest" 
  • Sponsored Presentation: Panos L (moderator), Pirzadeh-Miller S, Donenberg T, Gordon O. "The Panel Results Came Back. Now What do I do? Cancer Panel Presentations with your Peers." Collaboration with UT Southwestern, University of Miami, Providence Saint Joseph Medical Center.

Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA) 2014

  • Invited Platform Presentation: Espenschied C, et al. "Unexpected CDH1 Mutations Identified on Multigene Panels" Collaboration with USC Norris Comprehensive Cancer Center.

American College of Medical Genetics and Genomics (ACMG) 2013

For questions about clinical research or collaborations at Ambry, please fill out the form found here and select ‘Answer a Question about Research and Collaboration Services’.