Literature DB >> 30242814

What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation.

Holly K Tabor1, Aaron Goldenberg2.   

Abstract

The goal of this article is to examine the intersections of precision health and rare diseases. Specifically, we propose 3 lessons from the last decade of applying genomics to rare diseases: (1) precision can end one odyssey and start another; (2) precise interventions can exacerbate health disparities and create other ethical dilemmas; and (3) democratization of data will transform research and translation. By studying experiences of patients with rare diseases, researchers, clinicians, and policymakers can anticipate similar challenges in precision medicine and hopefully mitigate potential harms or injustices.
© 2018 American Medical Association. All Rights Reserved.

Entities:  

Year:  2018        PMID: 30242814     DOI: 10.1001/amajethics.2018.834

Source DB:  PubMed          Journal:  AMA J Ethics


  2 in total

1.  The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.

Authors:  Aleksandra Foksinska; Camerron M Crowder; Andrew B Crouse; Jeff Henrikson; William E Byrd; Gregory Rosenblatt; Michael J Patton; Kaiwen He; Thi K Tran-Nguyen; Marissa Zheng; Stephen A Ramsey; Nada Amin; John Osborne; Matthew Might
Journal:  Front Artif Intell       Date:  2022-09-30

Review 2.  Establishing Patient Registries for Rare Diseases: Rationale and Challenges.

Authors:  Vanessa Boulanger; Marissa Schlemmer; Suzanne Rossov; Allison Seebald; Pamela Gavin
Journal:  Pharmaceut Med       Date:  2020-06
  2 in total

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