Evidence map›Paper›PMID 39026269›Full record

ArticleBMC medical genomics2024

Towards genomic medicine: a tailored next-generation sequencing panel for hydroxyurea pharmacogenomics in Tanzania.

Siana Nkya, Collin Nzunda, Emmanuel Saukiwa, Frida Kaywanga, Eliud Buberwa, David Solomon, Heavenlight Christopher, Doreen Ngowi, Julieth Johansen, Florence Urio and 8 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Siana NkyaDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Collin NzundaDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania. nzundacr@gmail.com.
Emmanuel SaukiwaDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Frida KaywangaDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Eliud BuberwaDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
David SolomonMuhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Heavenlight ChristopherDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Doreen NgowiMuhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Julieth JohansenMuhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Florence UrioDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Josephine MgayaSickle Cell Program, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Salman KarimDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Mohamed Zahir AlimohamedDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Raphael Z SangedaTanzania Human Genetics Organisation, Dar es Salaam, Tanzania.
Clara ChambaDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Emile R ChimusaDepartment of Applied Sciences, Faculty of Health and Life Sciences, Tyne and Wear, Northumbria University, Newcastle, NE1 8ST, UK.
Enrico NovelliVascular Medicine Institute, School of Medicine, University of Pittsburgh, Pittsburgh, USA.
Julie MakaniDepartment of Haematology and Blood Transfusion, Dar es Salaam, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPharmacogenomics of hydroxyurea is an important aspect in the management of sickle cell disease (SCD), especially in the era of genomic medicine. Genetic variations in loci associated with HbF induction and drug metabolism are prime targets for hydroxyurea (HU) pharmacogenomics, as these can significantly impact the therapeutic efficacy and safety of HU in SCD patients.

methodsThis study involved designing of a custom panel targeting BCL11A, ARG2, HBB, HBG1, WAC, HBG2, HAO2, MYB, SAR1A, KLF10, CYP2C9, CYP2E1 and NOS1 as potential HU pharmacogenomics targets. These genes were selected based on their known roles in HbF induction and HU metabolism. The panel was designed using the Illumina Design Studio (Illumina, San Diego, CA, USA) and achieved a total coverage of 96% of all genomic targets over a span of 51.6 kilobases (kb). This custom panel was then sequenced using the Illumina MiSeq platform to ensure high coverage and accuracy.

resultsWe are reporting a successfully designed Illumina (MiSeq) HU pharmacogenomics custom panel encompassing 51.6 kilobases. The designed panel achieved greater than 1000x amplicon coverage which is sufficient for genomic analysis.

conclusionsThis study provides a valuable tool for research in HU pharmacogenomics, especially in Africa where SCD is highly prevalent, and personalized medicine approaches are crucial for improving patient outcomes. The custom-designed Illumina (MiSeq) panel, with its extensive coverage and high sequencing depth, provides a robust platform for studying genetic variations associated with HU response. This panel can contribute to the development of tailored therapeutic strategies, ultimately enhancing the management of SCD through more effective and safer use of hydroxyurea.

Indexed as

Anemia, Sickle CellHigh-Throughput Nucleotide SequencingHydroxyureaPharmacogeneticsGenomicsHumansPrecision MedicineTanzaniaHydroxyureaGenomic medicineMiseq illumina platformPharmacogenomicsSequencingSickle cell diseaseTanzaniaTargeted panel

Identifiers

PMID39026269
PMCPMC11256457

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.