Clinical genome sequencing in patients with suspected rare genetic disease in Peru

There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to underserved individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing. Here we describ...

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Published inNpj genomic medicine Vol. 9; no. 1; pp. 51 - 10
Main Authors Bazalar-Montoya, Jeny, Cornejo-Olivas, Mario, Duenas-Roque, Milagros M., Purizaca-Rosillo, Nelson, Rodriguez, Richard S., Milla-Neyra, Karina, De La Torre-Hernandez, Carlos A., Sarapura-Castro, Elison, Galarreta Aima, Carolina I., Manassero-Morales, Gioconda, Chávez-Pasco, Giulliana, Celis-García, Luis, La Serna-Infantes, Jorge E., Chekalin, Evgenii, Thorpe, Erin, Taft, Ryan J.
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 28.10.2024
Nature Publishing Group
Nature Portfolio
Subjects
631/208/212/2301
692/700/139/1512
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Congenital diseases
Disease
Families & family life
Family structure
Gene Function
Gene Therapy
Genetic counseling
Genetic disorders
Genetic screening
Genetic testing
Genetics
Genomes
Health care policy
Health insurance
Hospitals
Human Genetics
Insurance coverage
Internal Medicine
Laboratories
Patients
Pediatrics
Population
Public health
Rare diseases
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Summary:There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to underserved individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing. Here we describe the performance and impact of cGS in 247 patients from three clinics in Peru. Although most patients had at least one genetic test prior to cGS (70.9%), the most frequent was karyotyping (53.4%). The diagnostic yield of cGS was 54.3%, with candidate variants reported in an additional 22.3% of patients. Clinical GS results impacted clinician diagnostic evaluation in 85.0% and genetic counseling in 72.1% of cases. Changes in management were reported in 71.3%, inclusive of referrals (64.7%), therapeutics (26.3%), laboratory or physiological testing (25.5%), imaging (19%), and palliative care (17.4%), suggesting that increased availability of genomic testing in Peru would enable improved patient management.
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ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-024-00434-8