What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation
Bibliographic Data
| ID | 15744768 |
|---|---|
| Authors | Holly K Tabor (0000-0003-1005-5008, Center for Clinical Research (United States), corresponding author), Aaron J Goldenberg (0000-0002-0314-0303, Case Western Reserve University) |
| Year | 2018 |
| Volume | 20 |
| Issue | 9 |
| Pages | E834-840 |
| Publication date | 2018-09-01 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | The AMA Journal of Ethic (JOURNAL) |
| Journal identifiers | ISSN: 2376-6980 • E-ISSN: 2376-6980 |
| Publisher | American Medical Association (PUBLISHER • US) |
| DOI | 10.1001/amajethics.2018.834 |
| PMID | 30242814 |
| OpenAlex | W2892378636 |
| Language | EN |
| Citations received | 3 |
| References cited | 1 |
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
Biology · Disease · Drug · Drug development · Engineering ethics · Gene · Intensive care medicine · Pathology · Precision medicine · Rare disease · Translation (biology · Translational medicine · BRCA gene mutations in cancer · Cancer Genomics and Diagnostics · Engineering · Genomics and Rare Diseases · Medicine · Genetics · Pharmacology
| Unique citing works | 3 |
|---|---|
| Citations per year | 0,38 |
| Citation span | 2018 - 2024 (7) |
| Citation velocity | recent |
| Highly cited | No |
| Citation types | Neutral: 3 |