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Talking Techniques | Whole-genome-sequencing: navigating the ‘diagnostic odyssey’ in rare disease research

Discover the impact of whole-genome sequencing on rare disease diagnosis and treatment, from research to clinical outcomes, in this episode of Talking Techniques.

Rare diseases present a series of challenges on numerous fronts. From simply deciphering what a patient is affected by to considering how best to manage a rare condition with limited pre-existing medications available for a rare disease, each new development or breakthrough brings clinicians to a new question. While these conditions are, in isolation, rare; in total rare diseases impact 25-30million people in the USA alone.

Supported by Psomagen this episode features four fascinating guests from across the spectrum of topics and focuses in the rare disease space. Our guests explore the updates to whole-genome sequencing technology that have improved the ‘diagnostic odyssey’ experienced by some patients and enabled more accurate drug development. The episode also provides an insight into the diagnosis and characterization of undefined rare diseases, before exploring the clinical impact whole-genome sequencing can have on clinical outcomes.

Hear from four field-leading experts in rare disease research, whole-genome sequencing technologies and clinical practice for patients with rare diseases, including:

  • Alan Beggs: Director of The Manton Center for Orphan Disease Research at the Boston Children’s Hospital, Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School (both MA, USA)
  • Christine Stanley: Chief Director of Clinical Genomics at Variantyx (MA, USA)
  • David Dimmock: Senior Medical Director of Rady Children’s Institute for Genomic Medicine (CA, USA)
  • Take Ogawa: Vice President, Sales & Marketing at Psomagen (MD, USA)


  1. Introduction: 00:00-02:30
  2. Defining the diagnostic odyssey: 02:30-06:20
  3. Rare disease discovery: 06:20-09:20
  4. Techniques involved in rare disease discovery: 09:20-12:05
  5. Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30
  6. Currently required improvements in techniques for rare disease research and management: 18:30-24:10
  7. Explaining long-read and short-read sequencing: 24:10-26:00
  8. Developing therapeutics for rare diseases: 26:00-30:00
  9. Whole-genome sequencing in animal model validation: 30:00-31:20
  10. Improving access to whole-genome sequencing available to researchers and clinicians: 31:20-33:40
  11. How whole-genome sequencing is improving the management and outcomes for rare diseases: 33:40-38:27

Check out the rest of our In Focus: Realizing precision medicine with whole-genome sequencing, supported by Psomagen.