Skip to main content

We’ve updated our Terms & Conditions and Privacy Policy. By using this site, you agree to these terms.

DANVILLE, Pa. – When does a change in a gene cause disease and when does it not? What are the best ways to share genetic results with patients? What gene changes are associated specifically with developmental brain disorders? What genetic tests are better at flagging patients in need of follow up?

These are just some of the questions being addressed by faculty from Geisinger, a national leader in genomic medicine, at the 2017 annual meeting of the American College of Medical Genetics and Genomics (ACMG) in Phoenix, AZ., March 21-25.

The annual conference gathers genomic and medical professionals from around the world for four full days of meetings to discuss the latest findings in the field.

Geisinger’s expert genomics faculty will be heavily represented at the meeting and will be:

  • teaching courses for clinicians in the difficult work of determining when genetic changes (mutations) are significant or not. Director of Geisinger’s Autism & Developmental Medicine Institute (ADMI) Christa Lese Martin, Ph.D., will be co-leading this short course along with Geisinger faculty Erin Riggs, M.S., and Karen Wain, M.S.
  • exploring different approaches to sharing genomic findings with patients. Geisinger’s Director of Clinical Genomics Michael F. Murray, M.D., will be co-leading this session that will review Geisinger and three non-Geisinger efforts to deliver genetic findings to patients.  The panel will discuss clinical management issues including institutional support to deliver care and efforts to develop standardized approaches to clinical follow-up.
  • discussing a point-based scoring system to determine the significance of copy number variants (CNVs), a specific type of genetic change often associated with developmental disorders (DBDs). Erin Riggs, M.S., assistant professor at ADMI will be presenting this work, which represents a collaboration between ClinGen and ACMG to update the existing CNV interpretation guidelines.
  • sharing an important, new database developed at Geisinger’s ADMI for gene changes associated with developmental brain disorders (DBD), like autism. The DBD gene database ( provides an evidence-based, easily accessible, curated resource for clinicians and researchers. Geisinger’s Andrea Gonzalez Mantilla, M.D., a postdoctoral fellow with Dr. Martin and Dr. David H. Ledbetter, will be presenting this work.
  • discussing studies showing how genetic screening for hypertrophic cardiomyopathy – a condition which affects the heart muscle – is an effective method for identifying at-risk individuals for more targeted screening and preventative management. Geisinger licensed genetic counselor Marci Schwartz, Sc.M., will be presenting.
  • posing solutions to the problem of what to do when a genetic change previously thought to be benign or of unknown significance is later shown to cause disease. How can laboratories or non-medical providers share that information with patients? One way, to be presented by Geisinger’s genetic counselor Juliann Savat, M.S., is through patient registries, such as GenomeConnect.
  • sharing experience in dealing with patients discovered to have two distinct, but simultaneous, genetically caused health conditions – so called, dual genomic risk for monogenic conditions – a situation that is likely to increase as DNA sequencing becomes more common. D’Andra Lindbuchler, M.S.N., will be presenting these results.

In addition to these oral presentations, poster presentations will be made on other genomic related topics by Geisinger’s Brenda Finucane, Adam Buchannan, Laney Jones, Murugu Manickam, and Amanda Lazzeri.

Some of the presentations result from Geisinger Faculty work with ClinGen, a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

Other presentations stem from work on Geisinger’s internationally unique MyCode® Community Health Initiative – a precision medicine project that includes a system-wide biobank designed to store blood and tissue samples for research use by Geisinger and its collaborators. Key features include:

  • A recruitment goal of 250,000 Geisinger patients from Pennsylvania and New Jersey.
  • A partnership with Regeneron Genetics Center to sequence participant’s DNA (whole exome sequencing).
  • Approximately 60,000* of the 150,000* consented participants have had their exomes sequenced to date, creating a rich and growing field of data for research. *(see website for latest numbers:
  • Substantial research aimed at identifying or confirming new pathogenic (disease-causing) genes, searching for actively “protective” genes, new drug development and translation of these results into clinical care is under way at Geisinger and selected partners.

About Geisinger
Geisinger is an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator® and ProvenCare®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey with the addition of AtlantiCare, a National Malcolm Baldrige Award recipient. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 12 hospital campuses, two research centers and a 551,000-member health plan, all of which leverage an estimated $10.5 billion positive impact on the Pennsylvania and New Jersey economy. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit, or follow the latest Geisinger news and more on Twitter and Facebook



CONTACT: David Stellfox,, 717-810-9673

Content from General Links with modal content