Evidence map›Paper›PMID 35123515›Full record

ArticleJournal of orthopaedic surgery and research2022

Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.

Gayatri R Iyer, Roshan Kumar, Subhadra Poornima, Aruna Priya Kamireddy, Keerthi Konda Juturu, Lekhangda Bhatnagar, Srinka Arora, Vaishnavi Suresh, Prashant R Utage, Sarah Bailur and 2 more

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In one paragraph

Article in Journal of orthopaedic surgery and research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

2 citing papers in PubMed.

  1. Article
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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

12 authors.

Gayatri R Iyer *Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India.
Roshan Kumar *Department of Orthopedics, Kamineni Hospitals, LB Nagar, Hyderabad, India.
Subhadra PoornimaDepartment of Genetics, Credence Diagnostic Centre, Moula Ali, Hyderabad, India.
Aruna Priya KamireddyDepartment of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India.
Keerthi Konda JuturuDepartment of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India.
Lekhangda BhatnagarDepartment of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India.
Srinka AroraDepartment of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India.
Vaishnavi SureshDepartment of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India.
Prashant R UtageUtage Child Neuro Clinic and Development Centre, Narayanguda, Hyderabad, India.
Sarah BailurDepartment of Pediatrics, Kamineni Hospitals, LB Nagar, Hyderabad, India.
Akhilesh N PujarDepartment of Ocular Genetics, LV Prasad Eye Institute, Banjara Hills, Hyderabad, India.
Qurratulain HasanDepartment of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, Telangana, 500 074, India. qhasan2000@yahoo.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDisorders involving the musculoskeletal system are often identified with short stature and a range of orthopedic problems. The clinical and genetic heterogeneity of these diseases along with several characteristic overlaps makes definitive diagnosis difficult for clinicians. Hence, using molecular testing in addition to conventional tests becomes essential for appropriate diagnosis and management.

methodsComprehensive clinical examination, detailed pretest and posttest counseling, molecular diagnosis with next-generation sequencing (NGS), genotype-phenotype correlation and Sanger sequencing for targeted variant analysis.

resultsThis manuscript reports a molecular spectrum of variants in 34 orthopedic cases referred to a single genetic unit attached to a tertiary care hospital. The diagnostic yield of NGS-based tests coupled with genetic counseling and segregation analysis was 79% which included 7 novel variants. In about 53% (i.e. 18/34 cases), molecular testing outcome was actionable since 8 of the 18 underwent prenatal diagnosis, as they were either in their early gestation or had planned a pregnancy subsequent to molecular testing, while ten cases were premaritally/prenatally counseled for the families to take informed decisions as they were in the reproductive age.

conclusionsThe report highlights the importance of NGS-based tests even in a low resource setting as it helps patients, families and healthcare providers in reducing the economic, social and emotional burden of these disorders.

Indexed as

Genetic CounselingGenetic TestingAdolescentAdultChildChild, PreschoolFemaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMusculoskeletal DiseasesMusculoskeletal SystemPregnancyYoung AdultGenetic counselingMolecular diagnosisMusculoskeletal disordersNext-generation sequencingSkeletal dysplasia

Identifiers

PMID35123515
PMCPMC8818190

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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.