Are we prepared to deliver gene-targeted therapies for rare diseases?

Affiliations

¹ Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.
² Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
³ Department of Genetics-Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁴ Department of Surgery and the Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, California, USA.
⁵ Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore, New York, New York, USA.
⁶ Division of Genetics, New York State Department of Health, Albany, New York, USA.
⁷ Massachusetts General Hospital Department of Pediatrics, Boston, Massachusetts, USA.
⁸ EveryLife Foundation for Rare Diseases, Washington, District of Columbia, USA.
⁹ Department of Pediatrics, Duke University, Durham, North Carolina, USA.
¹⁰ Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA.
¹¹ Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.
¹² Division of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
¹³ Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

PMID: 36691939
DOI: 10.1002/ajmg.c.32029

Are we prepared to deliver gene-targeted therapies for rare diseases?

Timothy W Yu et al. Am J Med Genet C Semin Med Genet. 2023 Mar.

. 2023 Mar;193(1):7-12.

doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24.

Authors

Affiliations

¹ Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.
² Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
³ Department of Genetics-Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁴ Department of Surgery and the Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, California, USA.
⁵ Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore, New York, New York, USA.
⁶ Division of Genetics, New York State Department of Health, Albany, New York, USA.
⁷ Massachusetts General Hospital Department of Pediatrics, Boston, Massachusetts, USA.
⁸ EveryLife Foundation for Rare Diseases, Washington, District of Columbia, USA.
⁹ Department of Pediatrics, Duke University, Durham, North Carolina, USA.
¹⁰ Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA.
¹¹ Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.
¹² Division of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
¹³ Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

PMID: 36691939
DOI: 10.1002/ajmg.c.32029

Abstract

The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.

PubMed Disclaimer

References

REFERENCES

1. Bohnhoff, J. C., Taormina, J. M., Ferrante, L., Wolfson, D., & Ray, K. N. (2019). Unscheduled referrals and unattended appointments after pediatric subspecialty referral. Pediatrics, 144(6), e20190545. https://doi.org/10.1542/peds.2019-0545
1. Ceyhan-Birsoy, O., Murry, J. B., Machini, K., Lebo, M. S., Yu, T. W., Fayer, S., … BabySeq Project Team. (2019). Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq project. American Journal of Human Genetics, 104(1), 76-93. https://doi.org/10.1016/j.ajhg.2018.11.016
1. Kim, J., Hu, C., Moufawad El Achkar, C., Black, L. E., Douville, J., Larson, A., … Yu, T. W. (2019). Patient-customized oligonucleotide therapy for a rare genetic disease. The New England Journal of Medicine, 381(17), 1644-1652. https://doi.org/10.1056/NEJMoa1813279
1. Kingsmore, S. F., Henderson, A., Owen, M. J., Clark, M. M., Hansen, C., Dimmock, D., … Hobbs, C. (2020). Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ Genomic Medicine, 5, 49. https://doi.org/10.1038/s41525-020-00155-8
1. Landry, L. G., & Rehm, H. L. (2018). Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy. JAMA Cardiology, 3(4), 341-345. https://doi.org/10.1001/jamacardio.2017.5333

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Are we prepared to deliver gene-targeted therapies for rare diseases?

Affiliations

Are we prepared to deliver gene-targeted therapies for rare diseases?

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical