scholarly journals Hearing Loss Gene Panel Testing: Considerations for Clinical Practice

2020 ◽  
Vol 3 (4) ◽  
Author(s):  
Alpana M Kulkarni
Keyword(s):  
Hearing Loss ◽  
Clinical Practice ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

Mutation analysis in metastatic colorectal cancers (mCRC) subjected to gene panel testing for BRAF and KRAS genes in clinical practice.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. e15049-e15049
Author(s):  
Jeremy Clifton Jones ◽  
Frank A. Sinicrope ◽  
Nathan R. Foster ◽  
Benjamin Kipp ◽  
Jesse S Voss
Keyword(s):  
Clinical Practice ◽  
Mutation Analysis ◽  
Gene Panel ◽  
Colorectal Cancers ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Hope A. Tanudisastro ◽  
Katherine Holman ◽  
Gladys Ho ◽  
Elizabeth Farnsworth ◽  
Katrina Fisk ◽  
...  
Keyword(s):  
Clinical Practice ◽  
New Zealand ◽  
Genetic Testing ◽  
Gene Panel ◽  
Routine Practice ◽  
Causative Variant ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Gene Panels ◽  
Clear Information

AbstractGenetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here we describe the experience of the accredited Australia and New Zealand Renal Gene Panels clinical service, reporting on sequencing for 552 individuals from 542 families with suspected kidney disease in Australia and New Zealand. An increasing number of referrals have been processed since service inception with an overall diagnostic rate of 35%. The likelihood of identifying a causative variant varies according to both age at referral and gene panel. Although results from high throughput genetic testing have been primarily for diagnostic purposes, they will increasingly play an important role in directing treatment, genetic counseling, and family planning.

scholarly journals Next-generation Sequencing-based Test for Resectable Colorectal Cancer in Real-world Clinical Practice

2021 ◽  
Author(s):  
Masayo Ogiri ◽  
Ryo Seishima ◽  
Kohei Nakamura ◽  
Eriko Aimono ◽  
Shimpei Matsui ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Next Generation Sequencing ◽  
Real World ◽  
Gene Panel ◽  
Stage I ◽  
Next Generation ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Ngs Data ◽  
Generation Sequencing

Abstract Purpose: This study aimed to evaluate the significance of Next-generation sequencing (NGS)-based gene panel testing in resectable colorectal cancers (CRC)s by analyzing real-world data collected prospectively from patients. Methods: Patients with CRC who underwent surgery from July 2018 to February 2020 at our institution were included, and correlations between various NGS data and clinicopathological findings were evaluated. Results: Overall, 107 patients were included in this study. The tumor stage was I in 28 cases (26.2%), II in 40 cases (37.4%), III in 32 cases (29.9%), and IV in 7 cases (6.5%). Actionable gene alterations were found in 97.2% of the cases. Co-alteration analysis suggested that either TP53- or APC-related alterations were more frequently found in early-stage tumors (stage I). The copy number alteration count was significantly lower in right side colon tumors than in tumors in other locations (P < 0.05). Homologous recombination deficiency (HRD) was more often identified in stage IV tumors than in stage I or II tumors (P < 0.05). Moreover, high HRD status was suggested to be useful for identifying high-risk stage II tumors (P < 0.05). Conclusion: In this study, real-world NGS data represented the biological features of CRCs. HRD was identified as a useful result of gene panel testing with novel utility in clinical practice.

scholarly journals Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Le Xie ◽  
Yue Qiu ◽  
Yuan Jin ◽  
Kai Xu ◽  
Xue Bai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Gene Panel ◽  
Chinese Patients ◽  
Deaf Children ◽  
Congenital Hearing Loss ◽  
Panel Testing ◽  
Number Of Patients ◽  
Gene Panel Testing ◽  
Mutant Genes

Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. Here, we enrolled 137 Chinese patients with congenital hearing loss to describe the molecular epidemiology by using 127 gene panel testing or 159 variant testing. Sixty-three deaf children received 127 gene panel testing, while seventy-four patients received 159 variant testing. By use of 127 gene panel testing, more mutant genes and variants were identified. The most frequent mutant genes were GJB2, SLC26A4, MYO15A, CDH23, and OTOF. By analyzing the patients who received 127 gene panel testing, we found that 51 deaf children carried variants which were not included in 159 variant testing. Therefore, a large number of patients would be misdiagnosed if only 159 variant testing is used. This study highlights the advantage of 127 gene panel testing, and it suggests that broader genetic testing should be done to identify the genetic etiology of congenital hearing loss.

scholarly journals Extended gene panel testing in lobular breast cancer

2021 ◽  
Author(s):  
Elke M. van Veen ◽  
D. Gareth Evans ◽  
Elaine F. Harkness ◽  
Helen J. Byers ◽  
Jamie M. Ellingford ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Detection Rate ◽  
Gene Panel ◽  
Lobular Breast Cancer ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests

2021 ◽  
Vol 132 (2) ◽  
pp. S98
Author(s):  
Guillermo Seratti ◽  
Vikram Pansare ◽  
Tiffany Yar Pang ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests

2021 ◽  
Vol 132 ◽  
pp. S201
Author(s):  
Guillermo Seratti ◽  
Tiffany Pang ◽  
Vikram Pansare ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Clinical implementation of gene panel testing for lysosomal storage diseases

2018 ◽  
Vol 7 (2) ◽  
Author(s):  
Alexander Gheldof ◽  
Sara Seneca ◽  
Katrien Stouffs ◽  
Willy Lissens ◽  
Anna Jansen ◽  
...  
Keyword(s):  
Lysosomal Storage Diseases ◽  
Gene Panel ◽  
Lysosomal Storage ◽  
Clinical Implementation ◽  
Storage Diseases ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals MS3-1 IMPLEMENTATION OF GENE PANEL TESTING USING NEXT-GENERATION SEQUENCING

2019 ◽  
Vol 1 (Supplement_2) ◽  
pp. ii3-ii3
Author(s):  
Kazuko Sakai
Keyword(s):  
Cancer Treatment ◽  
Gene Mutation ◽  
Diagnostic Testing ◽  
Gene Panel ◽  
Panel Testing ◽  
Formalin Fixed Paraffin ◽  
Gene Panel Testing ◽  
Companion Diagnostic ◽  
Formalin Fixed Paraffin Embedded ◽  
Formalin Fixed

Abstract The advance of next-generation sequencers (NGS) has dramatically improved the performance of genomic analysis of clinical samples in cancer precision medicine. The practical use of gene panel testing for clinical applications has begun in Japan. At present, “OncomineTM Dx Target Test” is listed as a companion diagnostic system using NGS, and “FoundationOne CDx Cancer Genomic Profile” and “OncoGuide™ NCC Oncopanel System” are listed as gene panel testing under insurance coverage. Formalin-fixed paraffin-embedded specimen have been routinely used for molecular diagnosis testing, therefore quality control such as formalin fixation time and tumor contents is important to ensure validity of diagnostic results. In this presentation, the issue to obtain evaluable results of gene panel testing using formalin-fixed paraffin-embedded specimen will be discussed. Due to evolution of detection technologies, we can detect gene mutation with high sensitivity. Detection of gene mutation in circulating tumor DNA is feasible approach for diagnostic testing in cancer treatment. Liquid biopsy has been approved as a companion diagnostic testing to detect EGFR mutations in NSCLC. Examples of the clinical utility of plasma testing in cancer treatment will be presented.

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