2022: a Pivotal Year for Diagnosis and Treatment of Rare Genetic Diseases

Overview

Journal Cold Spring Harb Mol Case Stud

Specialty Genetics

Date 2022 Feb 26

PMID 35217563

Authors

Stephen F Kingsmore

Affiliations

Soon will be listed here.

Abstract

The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation.

Citing Articles

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Ellard S, Morgan S, Wynn S, Walker S, Parrish A, Mein R J Med Genet. 2024; 61(12):1103-1112.

PMID: 39327040 PMC: 11671936. DOI: 10.1136/jmg-2024-110228.

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.

Parobek C, Zemet R, Shanahan M, Burnett B, Mizerik E, Rosenfeld J Clin Genet. 2024; 106(1):95-101.

PMID: 38545656 PMC: 11147704. DOI: 10.1111/cge.14522.

Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022).

Perolla A, Calliku E, Cili A, Caja T, Pulluqi P, Ivanaj A Cureus. 2024; 16(1):e52091.

PMID: 38222997 PMC: 10784772. DOI: 10.7759/cureus.52091.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Pande S, Majethia P, Nair K, Rao L, Mascarenhas S, Kaur N Eur J Hum Genet. 2023; 32(10):1291-1298.

PMID: 38114583 PMC: 7616498. DOI: 10.1038/s41431-023-01513-7.

A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates.

Abou Tayoun A, Alsheikh-Ali A Nat Med. 2023; 29(12):2979-2980.

PMID: 37872224 DOI: 10.1038/s41591-023-02596-x.

References

Collins F . 2005 William Allan Award address. No longer just looking under the lamppost. Am J Hum Genet. 2006; 79(3):421-6. PMC: 1559549. DOI: 10.1086/507611. View

Dimmock D, Clark M, Gaughran M, Cakici J, Caylor S, Clarke C . An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020; 107(5):942-952. PMC: 7675004. DOI: 10.1016/j.ajhg.2020.10.003. View

Chan J, Raju S, Topol E . Towards a tricorder for diagnosing paediatric conditions. Lancet. 2019; 394(10202):907. DOI: 10.1016/S0140-6736(19)32087-2. View

Osmond M, Hartley T, Johnstone B, Andjic S, Girdea M, Gillespie M . PhenomeCentral: 7 years of rare disease matchmaking. Hum Mutat. 2022; 43(6):674-681. DOI: 10.1002/humu.24348. View

Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael J . Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021; 108(7):1231-1238. PMC: 8322922. DOI: 10.1016/j.ajhg.2021.05.008. View

Gorzynski J, Goenka S, Shafin K, Jensen T, Fisk D, Grove M . Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. N Engl J Med. 2022; 386(7):700-702. DOI: 10.1056/NEJMc2112090. View

Owen M, Niemi A, Dimmock D, Speziale M, Nespeca M, Chau K . Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. N Engl J Med. 2021; 384(22):2159-2161. PMC: 9844116. DOI: 10.1056/NEJMc2100365. View

Fujiwara T, Yamamoto Y, Kim J, Buske O, Takagi T . PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases. Am J Hum Genet. 2018; 103(3):389-399. PMC: 6128307. DOI: 10.1016/j.ajhg.2018.08.003. View

Thiffault I, Farrow E, Zellmer L, Berrios C, Miller N, Gibson M . Clinical genome sequencing in an unbiased pediatric cohort. Genet Med. 2018; 21(2):303-310. PMC: 6752301. DOI: 10.1038/s41436-018-0075-8. View

10.

Soden S, Saunders C, Willig L, Farrow E, Smith L, Petrikin J . Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014; 6(265):265ra168. PMC: 4286868. DOI: 10.1126/scitranslmed.3010076. View

11.

Powell A, Paterson-Brown S, Drummond G . Undergraduate medical textbooks do not provide adequate information on intravenous fluid therapy: a systematic survey and suggestions for improvement. BMC Med Educ. 2014; 14:35. PMC: 3933276. DOI: 10.1186/1472-6920-14-35. View

12.

Tez M, Yildiz B . How Reliable Are Medical Textbooks?. J Grad Med Educ. 2017; 9(4):550. PMC: 5559266. DOI: 10.4300/JGME-D-17-00209.1. View

13.

Kohler S, Schulz M, Krawitz P, Bauer S, Dolken S, Ott C . Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet. 2009; 85(4):457-64. PMC: 2756558. DOI: 10.1016/j.ajhg.2009.09.003. View

14.

Franck L, Dimmock D, Hobbs C, Kingsmore S . Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation. J Pediatr. 2021; 238:343. PMC: 10865930. DOI: 10.1016/j.jpeds.2021.08.006. View

15.

Clark M, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K . Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019; 11(489). PMC: 9512059. DOI: 10.1126/scitranslmed.aat6177. View

16.

Kim J, Hu C, El Achkar C, Black L, Douville J, Larson A . Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019; 381(17):1644-1652. PMC: 6961983. DOI: 10.1056/NEJMoa1813279. View

17.

Halle 3rd A, Andrews M . Hoofbeats of a zebra in the emergency room. Hosp Pract (Off Ed). 1986; 21(10):124H, 124J, 124L passim. View

18.

Saunders C, Miller N, Soden S, Dinwiddie D, Noll A, Alnadi N . Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012; 4(154):154ra135. PMC: 4283791. DOI: 10.1126/scitranslmed.3004041. View

19.

Owen M, Lefebvre S, Hansen C, Kunard C, Dimmock D, Smith L . An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022; 13(1):4057. PMC: 9325884. DOI: 10.1038/s41467-022-31446-6. View