Highlights from Precision Genomics Midwest 2018

Cincinnati, OH, May 11, 2018

We attended Precision Genomics Midwest 2018, Cincinnati’s second annual precision genomics conference  held on May 11th. 

There were two keynote lectures by Dr Daniel Kastner of the National Human Genome Research Institute and Dr Michael Murray of the Yale School of Medicine. Dr Kastner while reviewing the role of genomic analyses for diagnosis of disease also reviewed  examples  of rare and common variants in human disease. Dr Murray’s presentation centered around population genomics screening for heart disease and cancer. 

Other session objectives with multiple presentations and panel discussions included the following:

  1. Ethical, legal and social implications of genomics: Ethical implications of the expansion of carrier testing; Ethical and social guidance for genomic diagnostics
  2. Genome bioinformatics and challenges of electronic health records in precision medicine
  3. Panel discussion: Is gene editing or gene therapy the answer to curing human disease? Evaluation of technologies and ethical issues around gene editing and gene therapy.
  4. Translational pharmacogenomics: The pharmacogenomics program at NorthShore University Health System was elaborated.  
  5. Epigenetic biomarkers for public health and epigenetic variability in autoimmune conditions
  6. Clinical genome informatics: How Human Phenotype Ontology (HPO) can be used to support deep phenotype analysis as a part of the differential diagnosis process. Also included a presentation on how informatics and data science approaches are being used to translate genomics data into clinical useful knowledge.

Exhibitors included Ambry Genetics, BGI Americas,  Coavaris, DNAnexus, GeneDx, Lexogen, Mogene, Novogene, Nugen,  Paragon Genomics, Phosphorus, Rhythm Pharmaceuticals, Twist Bioscience and several others. We had an opportunity to meet with several exhibitors and talk to them about their emerging market strategy. In general, the central takeaway was the uncertainty around the changing regulatory landscape of medical devices and diagnostics in India. Concerns were also voiced on the challenges on penetrating price sensitive markets while capitalizing on a large demographic customer base.