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9AM-10AM, January 26, 2015 – Newborn & Prenatal Diagnosis – LIVE @Silicon Valley 2015 Personalized Medicine World Conference, Mountain View, CA

Reporter: Aviva Lev-Ari, PhD, RN

 

Real Time Conference Coverage with Social Media

@Computer History Museum by Dr. Aviva Lev-Ari, PhD, RN

Session Chair: Susan Gross, Natera (chair)

 

9:00AM – 9:15AM Dennis Lo, Li Ka Shing Institute

Noninvasive Prenatal Testing: What’s Next?

LIVE FROM THE PODIUM

Fragment size vs Frequency  – Size Analysis of Mitrochondrial DNA – for Size-based Molecular Diagnosis , bioanalyzer: Maternal DNA (long) and Fetal (Short) for Plasma DNA size distribution on Chromosome 13

• Sex Hormone – Congenital – Adreneal steroidogenesis  – Prenatal virility of a fetal fetus – targeting sequencing
• Father, Mother, homozygos, Mutant Gene vs Normal Gene: Mathernal plasma analysis, if Mother is Heterozygote – proband mutation identified, Maternal plasma targeted MPS: Gene to CHromosome to Fetal Chromosome
• Maternal Plasma SNPs analysis Mother: A, Father AG
• Fetal DNA Fraction 14% in first trimester: Maternal blood cell
• Fetal DNA Fraction 34% – Post delivery plasma
• Noval DIagnosis : Preeclamsia, non-invasive

 

9:15AM – 9:30AM Susan Gross, Natera

Identifying Constellations in Cell-Free DNA

LIVE from the Podium

• Traditional Approaches: Counting CirculatingSNPs – 20,000 SNPs – Prenatal Screening
• NonInvasive Pre: Clinical business develop a DB
• False Negatives (abnormal) and False Positive (normal)
• Mother has abnormal x chromosome: Vanishing Twin
• Constellation DNA Platform from a Global Footprint: Cancer Liquid Biopsy

 

9:30AM – 9:45AM Vince Ramey, DNAnexus

Addressing Operational Challenges of Prenatal Testing such as Scalability and Global Data Access

NGS Test Volume and Delivery: Landscapeand Forecast

• forecasting regulatory requirements
• DNAnexus – Founded in 2009: Security, Speed, Control –CLOUD-BASED PLATFORM for clinical data for sequencing
• they sit between the sequencer and Natera
• Cloud based genome informatics
• Clinical Testing Operating Needs: LIMS Integration, Reproduction of Results, Scalable Test Workload
• Decentralized sequencing, Centralized DAta Management, Globally Scale your Enterprise

 

9:45AM -10AM Ramji Srinivasan, Counsyl

Next Generation Counseling: Reinventing Results Delivery

• Understanding the results
• Patients need to get the results
• Seeing the Expert
• accessible, credible, timely, scalable,33 board-certified Genetics Counseling
• PROCESS: Online Delivery flow: patient notified results are ready, Patient schedule first session, patient schedule session to discuss the results
• Online _ MD Flow: MD sees log, MD order Lab
• NEW WORL FLOW – automatic e-mail notification is sent with results ready
• patients view educator videos and schedule consult
• patient recieves follow up
• Scale, enhance aptient dedication, flexible for new test data, less time on paper work more with patients

 

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