Dataset Information

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

ABSTRACT:

Background

Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the reanalysis of genomic data from unsolved cases.

Methods

We examined data from 58 unsolved cases referred between June 2016 and March 2017. First reanalysis at 4-13 months after the initial report considered genes newly associated with disease since the original analysis; second reanalysis at 9-18 months considered all disease-associated genes. At 25-34 months we reviewed all cases and the strategies which solved them.

Results

Reanalysis of existing ES data alone at two timepoints did not yield new diagnoses. Over the same timeframe, 10 new diagnoses were obtained (17%) from additional strategies, such as microarray detection of copy number variation, repeat sequencing to improve coverage, and trio sequencing. Twenty-seven peer-reviewed articles were identified on the literature review, with a median new diagnosis rate via reanalysis of 15% and median reanalysis timeframe of 22 months.

Conclusion

Our findings suggest that an interval of greater than 18 months from the original report may be optimal for reanalysis. We also recommend a multi-faceted strategy for cases remaining unsolved after singleton ES.

SUBMITTER: Tan NB

PROVIDER: S-EPMC7667328 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Publications

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Tan Natalie B NB Stapleton Rachel R Stark Zornitza Z Delatycki Martin B MB Yeung Alison A Hunter Matthew F MF Amor David J DJ Brown Natasha J NJ Stutterd Chloe A CA McGillivray George G Yap Patrick P Regan Matthew M Chong Belinda B Fanjul Fernandez Miriam M Marum Justine J Phelan Dean D Pais Lynn S LS White Susan M SM Lunke Sebastian S Tan Tiong Y TY

Molecular genetics & genomic medicine 20200923 11

<h4>Background</h4>Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the reanalysis of genomic data from unsolved cases.<h4>Methods</h4>We examined data from 58 unsolved cases referred between June 2016 and March 2017. First reanalysis at 4-13 months after the initial report considered genes newly associated with disease s ...[more]

PMID: 32969205

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Project description:PurposeRobotic surgery has been progressively implemented for colorectal procedures but is still limited for multiquadrant abdominal resections. The present study aims to describe our experience in robotic multiquadrant colorectal surgeries and provide a systematic review and meta-analysis of the literature investigating the outcomes of robotic total proctocolectomy (TPC), total colectomy (TC), subtotal colectomy (STC), or completion proctectomy (CP) compared to laparoscopy.MethodsAt our institution 16 consecutive patients underwent a 2- or 3-stage totally robotic total proctocolectomy (TPC) with ileal pouch-anal anastomosis. A systematic review of the literature was performed to select studies on robotic and laparoscopic multiquadrant colorectal procedures. Meta-analyses were used to compare the two approaches.ResultsIn our case series, 14/16 patients underwent a 2-stage robotic TPC for ulcerative colitis with a mean operative time of 271.42 (SD:37.95) minutes. No conversion occurred. Two patients developed postoperative complications. The mean hospital stay was 8.28 (SD:1.47) days with no readmissions. Mortality was nil. All patients underwent loop-ileostomy closure, and functional outcomes were satisfactory. The literature appraisal was based on 23 retrospective studies, including 736 robotic and 9,904 laparoscopic multiquadrant surgeries. In the robotic group, 36 patients underwent STC, 371 TC, 166 TPC, and 163 CP. Pooled data analysis showed that robotic TC and STC had a lower conversion rate (OR = 0.17;95% CI, 0.04-0.82; p = 0.03) than laparoscopic TC and STC. The robotic approach was associated with longer operative time for TC and STC (MD = 104.64;95% CI, 18.42-190.87; p = 0.02) and TPC and CP (MD = 38.8;95% CI, 18.7-59.06; p = 0.0002), with no differences for postoperative complications and hospital stay. Reports on urological outcomes, sexual dysfunction, and quality of life were missing.ConclusionsOur experience and the literature suggest that robotic multiquadrant colorectal surgery is safe and effective, with low morbidity and mortality rates. Nevertheless, the overall level of evidence is low, and functional outcomes of robotic approach remain largely unknown.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, identifier: CRD42022303016.

Dataset Information

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Background

Methods

Results

Conclusion

Publications

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Similar Datasets

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