ライフサイエンスコーパス: genetic testing

1 noninvasive method for early identification (genetic testing).

2 ly identified familial MYOC variant (cascade genetic testing).

3 of electrophysiological vulnerability), and genetic testing.

4 thalmologists select patients for additional genetic testing.

5 based on clinical criteria with and without genetic testing.

6 ingioma or schwannoma should be referred for genetic testing.

7 es among individuals qualifying for clinical genetic testing.

8 hysiology, histopathology and targeted early genetic testing.

9 ients with aortic disease who have undergone genetic testing.

10 tion and will allow informed decisions about genetic testing.

11 cardiomyopathy has been enhanced by targeted genetic testing.

12 can inform clinicians as to the relevance of genetic testing.

13 e submitted to cardiac screening and cascade genetic testing.

14 Results of clinical assessment and molecular genetic testing.

15 uding fulfillment of clinical guidelines for genetic testing.

16 .2-1.0% of children ascertained for clinical genetic testing.

17 longside BRCA1 and BRCA2 in routine clinical genetic testing.

18 ese panels offer advantages over traditional genetic testing.

19 among healthy individuals confounds clinical genetic testing.

20 een patients and 25 potential LRKD underwent genetic testing.

21 enotypic profile should undergo cardiac TRDN genetic testing.

22 transthoracic echocardiography, and clinical genetic testing.

23 ted BEM and may guide clinical diagnosis and genetic testing.

24 portant to refer these patients for clinical genetic testing.

25 s in CASPER from 2006 to 2015, 174 underwent genetic testing.

26 aphy (SD-OCT), microperimetry, and molecular genetic testing.

27 atients and family members in the context of genetic testing.

28 to evaluate the specific age thresholds for genetic testing.

29 difficulty in getting insurance coverage for genetic testing.

30 rotoporphyrin (ePPIX) testing, and molecular genetic testing.

31 individuals for FX premutation status using genetic testing.

32 bstantially increase the diagnostic yield of genetic testing.

33 were advised to undergo, and 15.3% underwent genetic testing.

34 erformance of FH clinical criteria versus FH genetic testing.

35 omprehensive Network criteria have undergone genetic testing.

36 should engage in shared decision making for genetic testing.

37 ene panels that have been the cornerstone of genetic testing.

38 Diagnostic yield and clinical usefulness of genetic testing.

39 ults Six hundred sixty-six patients reported genetic testing.

40 , of a cohort of 1032 patients who underwent genetic testing.

41 allenges in personalized communication about genetic testing.

42 the survey, 35% expressed strong desire for genetic testing, 28% reported discussing testing with a

43 Among 77 patients undergoing genetic testing, 34 had TMA.

44 way for management, highlighting the role of genetic testing, a detailed pedigree, and refined clinic

45 However, unique features associated with genetic testing affect the interpretation and applicatio

46 Earlier referral for genetic testing affected the clinical phenotype.

47 The results of genetic testing also were recorded.

48 k perception and decreases the intention for genetic testing among unlikely carriers and cancer-relat

49 Risk stratification including genetic testing and counseling serves as the basis for s

50 In the future this may be relevant to genetic testing and counselling of patients with PD and

51 lar methods, have important implications for genetic testing and counselling.

52 diction models that include information from genetic testing and environmental risk factors.

53 rt reported to date, will facilitate focused genetic testing and filtering of next generation sequenc

54 nd realistic expectations about the yield of genetic testing and its role in management.

55 rigin of the patients, may point to specific genetic testing and lead to early and correct diagnosis.

56 providers with the appropriate provision of genetic testing and management of patients at risk for a

57 ally minorities, express a strong desire for genetic testing and may benefit from discussion to clari

58 The routine applications of genetic testing and preclinical identification of family

59 HCHWA-D mutation carriers diagnosed through genetic testing and recruited through the HCHWA-D patien

60 ents' attending surgeons were surveyed about genetic testing and results management.

61 rate of change in management after standard genetic testing and STATseq.

62 rapidly evolving area of direct-to-consumer genetic testing and the current utility of clinical exom

63 an cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways

64 ype of a patient has been developed to guide genetic testing and to align genetic findings with the c

65 Results from panel genetic testing and WGS were compared.

66 eneration of variant annotations will inform genetic testing and will deepen our understanding of gen

67 center whose diagnosis has been confirmed by genetic testing and/or skin biopsy were studied from Mar

68 oided in typical cases that are confirmed by genetic testing, and

69 These data will inform tumor classification, genetic testing, and clinical trial design.

70 cs, clinicopathologic information, tumor and genetic testing, and family history.

71 size the role for chest computed tomography, genetic testing, and lung biopsy in the diagnostic evalu

72 tors of mutation status included sex, age at genetic testing, and proband and family cancer histories

73 Family members identified by genetic testing are candidates for preventive thyroidect

74 Furthermore, costs associated with genetic testing are highly variable and dependent on lab

75 This is an exciting time in genetic testing as whole exome and whole genome approach

76 ntify many carriers who are not evaluated by genetic testing based on family history criteria.

77 Guidelines for cancer genetic testing based on family history may miss clinica

78 from our cohort were identified by targeted genetic testing because their phenotype was suggestive f

79 als prospectively referred to the clinic for genetic testing between January 1, 1990, and December 31

80 syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016.

81 neration sequencing offers opportunities for genetic testing but is often complicated by logistic and

82 Genetic testing by array-comparative genomic hybridizati

83 Predictive genetic testing can facilitate donor evaluation and augm

84 Genetic testing can identify these misclassified patient

85 entifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refi

86 anslation of this research to the clinic via genetic testing can precisely group affected patients ac

87 Patients are now referred for genetic testing closer to their presentation with neonat

88 ng criteria was not associated with positive genetic testing, co-occurring cardiac features, pathogen

89 However, the benefits of genetic testing come with the risk that variants may be

90 Genetic testing confirmed pseudodominant inheritance and

91 reast cancer should be counseled and offered genetic testing, consistent with the National Comprehens

92 Additional diagnostic testing, including genetic testing, contributes to the detection of specifi

93 Moving forwards, genetic testing could enable precision medicine approach

94 e mutation positive did not meet established genetic testing criteria for the gene(s) in which they h

95 Having a cancer family history that met genetic testing criteria of the National Comprehensive C

96 ositive patients did not actually meet these genetic testing criteria.

97 as a result, the costs and risks of routine genetic testing currently outweigh the benefits for pati

98 mily Registry (CCFR) from 1998 through 2007 (genetic testing data updated as of January 2015).

99 Median duration of diabetes at the time of genetic testing decreased from more than 4 years before

100 l to identify families who will benefit from genetic testing, determine the best strategy, and interp

101 ic counseling, most US women undergoing BRCA genetic testing do not receive this clinical service.

102 We propose the introduction of genetic testing early in the diagnostic pathway in child

103 cancer susceptibility, quality assurance in genetic testing, education of oncology professionals, an

104 dergone targeted hypertrophic cardiomyopathy genetic testing (either multigene panel or familial vari

105 and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels.

106 king definition of familial PCA for clinical genetic testing, expanding understanding of genetic cont

107 Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 6

108 Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of

109 Traditional genetic testing focusses on analysis of one or a few gen

110 h ADPKD and potential LRKD were referred for genetic testing for ADPKD between April 2010 and October

111 argest series to date evaluating the role of genetic testing for ADPKD in LRKD assessment.

112 Direct genetic testing for ATP7B mutations are increasingly ava

113 ed to undergo genetic testing, or undergoing genetic testing for BC or OC.

114 Purpose Genetic testing for breast cancer risk is evolving rapid

115 es, the threshold widely accepted to justify genetic testing for cancers.

116 Among laboratories experienced in genetic testing for cardiac arrhythmia disorders, there

117 At present, genetic testing for cardiomyopathy uses targeted sequenc

118 pathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adul

119 the patterns of use and diagnostic yield of genetic testing for early-life epilepsies.

120 The practice of genetic testing for hereditary breast and/or ovarian can

121 Postmortem genetic testing for heritable cardiovascular (CV) disord

122 imation of all five LS genes and supports LS genetic testing for individuals with scores >/= 2.5%.

123 Genetic testing for inherited eye diseases can be costly

124 Genetic testing for inherited retinal disease is now mor

125 Genetic testing for IQCB1 and avoidance of matings betwe

126 from 1260 individuals who underwent clinical genetic testing for Lynch syndrome from 2012 through 201

127 Genetic testing for melanoma-prone mutation in France, a

128 monstrate the clinical utility of predictive genetic testing for MYOC glaucoma.

129 As advances continually occur in genetic testing for ocular genetic disorders, clinicians

130 ur finding has implications for broader BRCA genetic testing for patients with pancreatic ductal aden

131 to aggressive PCA, exploring clinical use of genetic testing for PCA management, genetic testing of A

132 Our findings demonstrated that MYOC cascade genetic testing for POAG allows identification of at-ris

133 Purpose Guidelines are limited for genetic testing for prostate cancer (PCA).

134 CA), we enrolled men and women with positive genetic testing for SCA1, SCA2, SCA3, or SCA6 and with p

135 he Huntington disease), and thus was used in genetic testing for screening individuals at high risk.

136 anticipation of the increasing relevance of genetic testing for the assessment of disease risks, thi

137 hypoglycaemia include use of rapid molecular genetic testing for the disease, application of novel im

138 ogical examination and electrodiagnostic and genetic testing for the major known genetic causes of AL

139 Since genetic testing for the premutation is resource intensiv

140 ere referred following positive results from genetic testing for the previously identified familial M

141 cancer to determine the utility of germline genetic testing for those with TNBC.

142 Furthermore, genetic testing for VHL is indicated in some individuals

143 Genetic testing for VHL is widely available and will det

144 es) versus those who were examined following genetic testing (Genetic cases).

145 c mutation carriage was defined according to genetic testing guidelines.

146 The rapid expansion of genetic testing has led to increased utilization of clin

147 Increased genetic testing has negatively impacted insurability for

148 BRCA genetic testing has substantial public health impact, ye

149 Clinical genetic testing has undergone a dramatic transformation

150 Advances in MRI and serological and genetic testing have greatly increased accuracy in disti

151 Advances in genetic testing have significantly improved the diagnost

152 pants: patients diagnosed with HCHWA-D using genetic testing; healthy controls age-matched to the HCH

153 Notably, in many cases, genetic testing helped to distinguish stationary from pr

154 naling was observed in peripheral blood, and genetic testing identified a de novo germline mutation i

155 In 20 of 41 participants, panel genetic testing identified variants classified as pathog

156 Genetic testing identifies a pathogenic variant in a sig

157 iagnosed individuals are likely to elect for genetic testing if offered.

158 ASCO released its first statement on genetic testing in 1996 and updated that statement in 20

159 ospective comparison of STATseq and standard genetic testing in a case series from the NICU and PICU

160 To assess the clinical usefulness of genetic testing in a pediatric population with inherited

161 Systematic cascade screening and genetic testing in asymptomatic individuals will lead to

162 The role of genetic testing in cardiac arrest survivors without a de

163 mics (ACMG) jointly published a statement on genetic testing in children and adolescents.

164 ethical, legal, and social issues concerning genetic testing in children.

165 rolemia, is the clearest case for utility of genetic testing in diagnosis and potentially guiding tre

166 Moreover, cascade genetic testing in family members can identify those who

167 Cascade genetic testing in first-degree relatives identified 6 a

168 We propose using the rule of 3 to recommend genetic testing in France and countries with low to mode

169 Predictive genetic testing in Huntington disease (HD) enables thera

170 utations, indications and interpretations of genetic testing in non-BRCA mutations are not well defin

171 hthalmologists' understanding on the cost of genetic testing in ocular disease, the complexities of i

172 , interpretations, and costs associated with genetic testing in patients with breast cancer.

173 ian regarding how to approach and prioritize genetic testing in patients with such clinically heterog

174 Therefore, ophthalmologists should consider genetic testing in patients with these phenotypic charac

175 esigned to outline the major developments in genetic testing in the cardiovascular arena in the past

176 The role of genetic testing in the initial evaluation of these epile

177 selected the 22 oncology drugs with required genetic testing in their labels.

178 Our findings do not support routine CYP2C19 genetic testing in this population.

179 ademic institution to examine the utility of genetic testing in this population.

180 N: These results highlight the importance of genetic testing in this setting in view of the high freq

181 his highlights the importance of considering genetic testing in young patients with dementia and addi

182 ignificances in CPVT-associated genes in WES genetic testing, in the absence of clinical suspicion fo

183 We identified mutations by comprehensive genetic testing including Sanger sequencing, 6q24 methyl

184 t assay (ELISA) with intermediate threshold (Genetic Testing Institute, Asserachrom), particle gel im

185 icity, 89.9%) were observed for IgG-specific Genetic Testing Institute-ELISA with low threshold.

186 Observations: Successfully incorporating genetic testing into clinical practice requires (1) reco

187 Successful integration of genetic testing into clinical practice requires understa

188 ther refine risk prediction by incorporating genetic testing into existing algorithms that are primar

189 Genetic testing is a powerful tool that allows for the d

190 ed therapy for ASDs is logical, and clinical genetic testing is a prerequisite.

191 Genetic testing is a valuable tool for managing inherite

192 particularly in younger donors and molecular genetic testing is advised.

193 However, interpreting results from genetic testing is confounded by the presence of variant

194 , implications, benefits, and limitations of genetic testing is essential to achieve the best possibl

195 can provide guidance while mutation-specific genetic testing is in motion for family members.

196 emia and for cascade screening of relatives, genetic testing is likely to expand to help establish di

197 ble disorder for over 25 years, yet clinical genetic testing is non-diagnostic in >50% of patients, u

198 Because genetic testing is now increasingly becoming a part of c

199 Genetic testing is recommended in patients at clinically

200 sifications from other clinical and research genetic testing laboratories, as well as with in silico

201 We reviewed patient records at a leading genetic-testing laboratory for occurrences of these vari

202 type-negative patients, broad multiphenotype genetic testing led to higher yields (21% versus 8%; P=0

203 o electroencephalogram, lumbar puncture, and genetic testing may be considered in the evaluation of t

204 Genetic testing may be helpful in some cases where a typ

205 g provocation, advanced cardiac imaging, and genetic testing may be useful when a cause is not appare

206 al utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and

207 l use of genetic testing for PCA management, genetic testing of African American males, and addressin

208 r rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an e

209 of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2.

210 Genetic testing of CALM1-3 should be pursued for individ

211 tients with breast cancer receiving germline genetic testing of cancer predisposition genes with here

212 ncer, particularly given the debate over the genetic testing of children for cancer susceptibility in

213 Genetic testing of germline DNA is used in patients susp

214 ight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellect

215 Genetic testing of mtDNA identified a point mutation at

216 ncer susceptibility gene panels for germline genetic testing of patients.

217 Targeted postmortem genetic testing of the 4 major channelopathy-susceptibil

218 Comprehensive genetic testing of the candidate genes is warranted.

219 Genetic testing of the LCT gene revealed homozygosity fo

220 However, genetic testing of the SGLT1 (SLC5A1) gene was negative

221 As DNA sequencing costs decline, genetic testing options have expanded.

222 of the birth outcome was based on diagnostic genetic testing or newborn examination.

223 uncertain significance on hereditary cancer genetic testing (OR, 3.24; 95% CI, 1.09-9.59).

224 ealth professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or

225 Tseq and three (9%) of 32 by use of standard genetic testing (p=0.0002).

226 We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken b

227 The mainstream genetic testing pathway we present is effective, efficie

228 e 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial

229 Genetic testing performed in 10 demonstrated 7 patients

230 Genetic testing performed on both siblings showed a muta

231 ialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospe

232 These 132 pfsSNVs can be used in developing genetic testing pipelines.

233 entous hemagglutinin antibody titers, and by genetic testing (polymerase chain reaction/loop-mediated

234 dicine, including widespread fee-for-service genetic testing, population genetic studies, and contemp

235 While there is an emerging role for germline genetic testing potentially predicting sensitivity to pl

236 iduals without known indication for specific genetic testing, primarily from the United States.

237 Cost is an especially important part of the genetic testing process and point of discussion with pat

238 Genetic testing provides a foundation for transitioning

239 Hospital-based case-control study, including genetic testing, questionnaires, and physical data (Mole

240 Increasing use of genetic testing raises questions about disclosing second

241 Although genetic testing readily identifies those who will be aff

242 nstead of focusing on an individual patient, genetic testing requires consideration of the family as

243 significantly less likely to have a positive genetic testing result compared with those with LVNC and

244 Methods Clinical data and genetic testing results were gathered from 1,191 individ

245 differential diagnosis, pathologic findings, genetic testing results, and diagnosis are discussed.

246 Genetic testing revealed 3 disease-causing mutations.

247 Genetic testing revealed a pathogenic mutation in 159 pa

248 Genetic testing revealed, to our knowledge, a novel fram

249 Genetic testing should be advocated in young patients wi

250 Genetic testing should be considered in individuals with

251 to also aid in determining whether familial genetic testing should be considered.

252 To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease a

253 ater reduction in Cognitive Appraisals About Genetic Testing stress subscale scores in the IG than UC

254 evaluation, including clinical demographics, genetic testing, symptom evaluation, neurologic examinat

255 The patient's family pursues genetic testing that shows a "likely pathogenic" variant

256 orts the recommendation to offer BRCA1/BRCA2 genetic testing to all patients with high-grade serous o

257 The addition of genetic testing to autopsy investigation substantially i

258 thological findings on organ biopsy prompted genetic testing to confirm the diagnosis.

259 is cheaper and more clinically relevant than genetic testing to detect a factor V Leiden mutation in

260 firmation by biochemical testing, subsequent genetic testing to determine the specific acute hepatic

261 Prenatal genetic testing to diagnose DS in utero, provides the no

262 In order to provide high quality genetic testing to eyeGENE((R))'s enrolled patients whic

263 d-of-care for long-QT syndrome uses clinical genetic testing to identify genetic variants of the KCNQ

264 tory of cancer should be considered for BAP1 genetic testing to identify those individuals who might

265 we use data derived from direct-to-consumer genetic testing to investigate patterns of recombination

266 w of our patients; from affordable and rapid genetic testing to wearable sensors that track a wide ra

267 ta were acquired during follow-up, including genetic testing, to exclude underlying disease.

268 ances in diagnostic imaging, biomarkers, and genetic testing today allow identification of the specif

269 Despite negative genetic testing, two potential LRKD were considered unsu

270 etiology would have remained unknown without genetic testing, underwent some testing.

271 evaluated correlates of a strong desire for genetic testing, unmet need for discussion with a health

272 interpretation of SCN5A nsSNVs for clinical genetic testing using estimated predictive values derive

273 investigations, including, where appropriate genetic testing using next-generation sequencing (NGS).

274 Genetic testing verified the suspicion of McArdle diseas

275 The mean age of patients when they underwent genetic testing was 45+/-17, and they were followed for

276 Between January, 2000, and August, 2013, genetic testing was done in 1020 patients (571 boys, 449

277 Genetic testing was performed at treating physicians' di

278 Genetic testing was performed in 558 consecutive proband

279 Genetic testing was performed in all patients and/or in

280 Genetic testing was performed more often in family membe

281 Genetic testing was performed when a mutation was identi

282 When genetic testing was performed, consent was documented 77

283 erized based on information available before genetic testing was performed.

284 Genetic testing was performed.

285 of unexplained sudden cardiac death in which genetic testing was performed.

286 investigations and transplant outcomes after genetic testing were collected.

287 tailed case history, multimodal imaging, and genetic testing were reviewed for patients with macular

288 Patients who received genetic testing were younger, less likely to be black, a

289 implications for prognosis and we recommend genetic testing when common causes of coronal synostosis

290 uppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not.

291 ents, 327 (48.1%) underwent various forms of genetic testing, which identified pathogenic variants in

292 ily history has led to increased reliance on genetic testing, which, in turn, has raised new diagnost

293 It is likely that, in the future, genetic testing will allow physicians to achieve better

294 genetic subsets of disease become available, genetic testing will become a part of routine clinical c

295 Clinicians without expertise in genetic testing will benefit from establishing referral

296 nticipated $1000 genome, it is expected that genetic testing will shift toward comprehensive genome s

297 nmet need for discussion (failure to discuss genetic testing with a health professional when they had

298 ndividuals reporting a history of discussing genetic testing with a health professional, being advise

299 Genetic testing within the B-other group revealed the pr

300 s, and define additional factors influencing genetic testing yield.