In this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder.
Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study
Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned her MS in Genetic Counseling from UCLA’s inaugural genetic counseling class.
In this segment we discuss:
- The role of digital tools in healthcare management for rare diseases
- Real-world examples of existing digital tools for the rare disease community
- The impact of rare disease on the global population
- The healthcare gaps currently not addressed by digital tools
- Recommended digital tool features
Bethany Stafford-Smith works clinically as a genetic counsellor at University Hospitals of Leicester. She also works for Great Ormond Street Hospital as a Research Genetic Counsellor.
In this segment we discuss:
- The definition of emerging ultra rare disorders or E-URD
- Experiences of parents with children diagnosed with an E-URD
- Parents’ perceptions on the utility of a diagnosis
- Challenges faced by parents seeking medical and social support after receiving an E-URD diagnosis for their child
- How researchers and healthcare providers can support advocacy in E-URDs
Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.
Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.
For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.
Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.
DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.
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