Personalis to Highlight Advances in Clinical-Exome Sequencing at the 2014 National Society of Genetic Counselors Meeting

Personalis, Inc., a leading clinical diagnostic laboratory, announced today a broad set of presentations and events to be held at the National Society of Genetic Counselors (NSGC) 2014 Annual Education Conference starting September 17, 2014, in New Orleans. These include a concurrent paper for presentation, four posters, a CEU-approved breakfast seminar, a company presentation, and an exhibit booth. Together, these presentations support the benefits of the ACE Clinical Exome™ Test to accurately identify the causes of rare genetic diseases, with content and features absent from conventional exome tests.

The ACE Clinical Exome Test offered by Personalis is a next-generation sequencing-based test designed to provide a molecular genetic diagnosis for patients whose clinical assessment indicates a likely genetic basis to their disorder but where the genetic etiology is unknown. The ACE Clinical Exome Test goes far beyond a conventional exome test. It combines enhanced whole-exome sequencing, including additional coverage for more than 7,000 genes related to disease, coverage of medically important non-coding regions, and incorporates genome-wide structural variant detection.

“Genetic Counselors play a critical role in deciding which genetic tests, including the ACE Clinical Exome Test, may be necessary for the diagnosis and treatment of conditions of suspected genetic etiology,” said Sarah Garcia, Ph.D., M.S., C.G.C., Manager of Clinical Genomics Applications at Personalis. “We’re excited to attend the NSGC meeting and share the latest information about how high-accuracy exome sequencing coupled with sophisticated analysis and easy-to-interpret results can end or prevent a diagnostic odyssey that is both financially and emotionally costly to families.”

Attendees of the NGSC meeting can learn more about the ACE Clinical Exome Test by visiting Personalis at booth #205 in the exhibition hall.

Talk and poster presentation details are as follows (all times are in Central Time):

Personalis Presentation
Thursday, September 18 @ 11:30 AM
VSP Pavilion, Exhibitor Suite, Hall B
TITLE: The ACE Clinical Exome Test: Advanced Diagnostic Test for Genetic Disease

Sponsored Breakfast Session (CEU-Approved)
Friday, September 19 @ 7:00 AM
Great Hall B & C
TITLE: Application of an Enhanced Exome in Diagnosis of Rare Genetic Diseases

Concurrent Paper for Presentation
Friday, September 19 @ 8:15 AM
Genetic Testing I: New Technology
TITLE: Revised Diagnosis Through Exome Sequencing of an Infant With Congenital Cataracts Expands Phenotypic Spectrum of COL4A1-Associated Disorders

Poster Presentation #124
Session: Genetic Testing
Thursday, September 18 @6:30 PM
TITLE: Use of an Enhanced Exome with Genome-Wide Structural Variant Detection for the Diagnosis of Mendelian Disease

Poster Presentation #148
Session: Genetic Testing
Thursday, September 18 @6:30 PM
TITLE: Successful Utilization of Enhanced Exome Sequencing to Identify the Genetic Cause of Retinal Disorders in a Case Series

Poster Presentation #119
Session: Genetic Testing
Friday, September 19 @2:00 PM
TITLE: A Negative Result on Exome Sequencing: What a Genetic Counselor Should Know

Poster Presentation #123
Session: Genetic Testing
Friday, September 19 @2:00 PM
TITLE: Homocystinuria Diagnosed by Whole Exome Sequencing in Siblings from an Isolated Central American Village

About Personalis, Inc.

Personalis, Inc. provides researchers and clinicians accurate DNA sequencing and interpretation of human exomes and genomes. We support researchers engaging in case-control, family-based, or proband-only genomic studies of disease, pharmacogenomics, and cancer. Our ACE (Accuracy and Content Enhanced) Technology supplements a standard exome or genome, substantially increasing its medically-relevant coverage and accuracy. Personalis builds on this enhanced sequencing foundation with innovative algorithms and proprietary databases for alignment, variant calling, annotation, and analysis. Through this comprehensive approach, we provide genomic data and interpretation of the highest accuracy. Personalis’ ACE Clinical Exome™ Test has several major features that are not addressed by standard exome sequencing platforms: a high level of gene finishing, structural variant detection, and inclusion of non-exonic interpretable content. The ACE Clinical Exome Test has been specifically designed to enhance diagnostic yield for clinical care.

For more information about Personalis, Inc., please visit www.personalis.com.