Medical Genetics for the Undiagnosed and Rare Patient: "Chasing Zebras"
Overview
Overview
Authors
Authors
Affiliations
Affiliations
Soon will be listed here.
Abstract
The world of genetic testing continues to evolve as new technologies provide insight into previously unchartered territories. Access to genetic testing, especially for complex medical patients, could potentially improve the lives of thousands of individuals with undiagnosed conditions. Barriers to testing include financial and physical limitations, along with the emotional and social fortitude that is at times needed for vulnerable populations to agree to testing and participation in research. As healthcare providers, it is imperative that we adopt a wholistic approach to care so that we can arm our patients with the necessary resources to navigate their medical journey.
References
1.
Patterson A, OBoyle M, VanNoy G, Dies K
. Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis. 2023; 4:26330040231164425.
PMC: 10184204.
DOI: 10.1177/26330040231164425.
View
2.
Zanello G, Chan C, Pearce D
. Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients. Orphanet J Rare Dis. 2022; 17(1):181.
PMC: 9078009.
DOI: 10.1186/s13023-022-02337-2.
View
3.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A
. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2020; 23(2):259-271.
PMC: 7867619.
DOI: 10.1038/s41436-020-00984-z.
View
4.
Splinter K, Adams D, Bacino C, Bellen H, Bernstein J, Cheatle-Jarvela A
. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018; 379(22):2131-2139.
PMC: 6481166.
DOI: 10.1056/NEJMoa1714458.
View
5.
McConkie-Rosell A, Spillmann R, Schoch K, Sullivan J, Walley N, McDonald M
. Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. J Genet Couns. 2023; 32(5):993-1008.
PMC: 10542653.
DOI: 10.1002/jgc4.1707.
View