Speaker Profile

Ph.D., Assistant Professor, UCSD

Biography
In 2019, Dr. Miga co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Additionally, Dr. Miga is the Director of the Reference Production Center for the Human Pangenome Reference Consortium (HPRC). Central to Dr. Miga’s research program is the emphasis on satellite DNA biology and the use of long-read and new genome technologies to construct high-quality genetics and epigenetic maps of human peri/centromeric regions.


 Session Abstract – PMWC 2022 Silicon Valley


Track Chair:
Ed Esplin, Invitae

Genetic testing has evolved over time and various applications have successfully made it into the clinical setting. While oncology applications are dominating, we also see a rise in genetic/genomic applications for reproductive health, CVD diagnosis, or early life understanding. Technological advancements are required to scale genetic testing applications delivery including relay of genomic information to clinicians and patients. In parallel to technological challenges, hurdles are also observed when it comes to insight/knowledge extraction, reporting of clinical findings, and scaling of genetic counseling. This track will touch upon these various aspects including successful precision medicine models through biopharma ventures for rare disease understanding and direct to consumer genetic testing.

Sessions:

  • The Path to Universal Newborn Sequencing and Disease Prevention
    - Robert C Green, Harvard
  • Intro to Genetic Testing Applications
    - Ed Esplin, Invitae
  • Evolving Paradigms in Genetic Testing Initiated by Consumers
    - Paldeep S. Atwal, PWN Health
  • Models of Successful Precision Medicine through Biopharma Ventures in Rare Disease
    - Daniel Anderson, Invitae
    - Karen Miga, UCSC
  • Pairing Somatic Cancer Testing with Germline Testing
    - Ed Esplin, Invitae
  • Scalable Approaches to Relaying Genomic Information to Clinicians and their Patients
    - Steven Bleyl, Genome Medical
    - Cassie Hajek, Sanford Imagenetics
  • Lessons Learned from Virtual Genetic Counseling
    - Peter Hulick , NorthShore
  • Sharing Insights On Reimbursement
    - Ashley Arthur, Illumina