ライフサイエンスコーパス: genetic testing

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

2 s confirmed by a positive skin biopsy and/or genetic testing.

3 onselected consecutive individuals underwent genetic testing.

4 henotype correlation underscore the need for genetic testing.

5 rden of RYR2 VUS encountered during clinical genetic testing.

6 helial Wilms tumour should be offered TRIM28 genetic testing.

7 genic RBM20-variants considered suitable for genetic testing.

8 unseling and, if indicated after counseling, genetic testing.

9 ources for evaluating variants identified by genetic testing.

10 e values (PPV, NPV), according to results of genetic testing.

11 ividuals for clinical research that involves genetic testing.

12 es that performed nearly all germline cancer genetic testing.

13 , legal, cost, and privacy issues related to genetic testing.

14 for pancreatic cancer and are candidates for genetic testing.

15 ductive risk, and positive attitudes towards genetic testing.

16 identified and recruited for examination and genetic testing.

17 e predictive values, according to results of genetic testing.

18 xt of phenotype and to extend the utility of genetic testing.

19 atives, in-home-based sample collection, and genetic testing.

20 zed genetic risk evaluation, counseling, and genetic testing.

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

22 patients with cardiomyopathy with the use of genetic testing.

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

24 individuals for FX premutation status using genetic testing.

25 bstantially increase the diagnostic yield of genetic testing.

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

27 resonance imaging (MRI), muscle biopsy, and genetic testing.

28 erformance of FH clinical criteria versus FH genetic testing.

29 omprehensive Network criteria have undergone genetic testing.

30 should engage in shared decision making for genetic testing.

31 uroimaging, functional neuroimaging, CSF and genetic testing.

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

33 Diagnostic yield and clinical usefulness of genetic testing.

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

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

36 the discussion around broader access to BRCA genetic testing.

37 phy (ERG), and both microscopy and molecular genetic testing.

38 t the needs of all persons contemplating DTC genetic testing.

39 ntly accurate to be used clinically, without genetic testing.

40 herefore be unlikely to qualify for clinical genetic testing.

41 imaging, with subsequent targeted microscopy/genetic testing.

42 , P<0.001) despite equivalent utilization of genetic testing.

43 icient high confidence for use in predictive genetic testing.

44 e porphyria, confirmed by biochemical and/or genetic testing.

45 electrophysiologic assessment, and molecular genetic testing.

46 ling is already restricting the provision of genetic testing.

47 mong 114 identified ARRs, 66 (58%) completed genetic testing.

48 o subsequently underwent tumor resection and genetic testing.

49 gnosed as full aneuploid by pre-implantation genetic testing.

50 s a result, several family members underwent genetic testing.

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

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

53 Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests ap

54 ts along exon 4 have divergent consequences, genetic testing alone may be insufficient for counseling

55 g, information from the clinical history and genetic testing also contribute.

56 erstand the diagnostic yield of rare variant genetic testing among a cohort of SCAD survivors and to

57 Surveys of ARRs at the time of genetic testing and 6 months later demonstrated low leve

58 diagnosis is made, relatives should receive genetic testing and clinical assessment to stratify thei

59 BEST PRACTICE ADVICE 3: Genetic testing and counseling should be considered for

60 relevance of epigenetics, pharmacogenomics, genetic testing and counseling, and their social and cul

61 ity and academic sites experienced in cancer genetic testing and counseling.

62 rizes current best practices with respect to genetic testing and its implications for the management

63 Within the last decade, advances in genetic testing and its increased availability have made

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

65 ividuals with Wilms tumour should be offered genetic testing and particularly, those with epithelial

66 also presents recent updates to the role of genetic testing and polygenic risk scores for the predic

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

68 We examined clinical genetic testing and results among population-based patie

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

70 ributed to advances in genome sequencing and genetic testing and the expanding understanding of the g

71 n the accessibility, cost, and acceptance of genetic testing and the increased identification of path

72 Results from panel genetic testing and WGS were compared.

73 Subjects who had consented for genetic testing and who were of European ancestry from t

74 s associated with positive attitudes towards genetic testing and younger age.

75 ts who met inclusion criteria, 333 completed genetic testing, and 80/333 (24%) had a diagnostic genet

76 ion of VUSs, topics covered before and after genetic testing, and clinical recommendations using a hy

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

78 fits of risk assessment, genetic counseling, genetic testing, and interventions are moderate.

79 arms of risk assessment, genetic counseling, genetic testing, and interventions are small to moderate

80 fits of risk assessment, genetic counseling, genetic testing, and interventions are small to none.

81 ical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling.

82 arms of risk assessment, genetic counseling, genetic testing, and risk-reducing interventions.

83 estations suggestive of a diagnosis of CMTC, genetic testing, and visual outcomes after treatment.

84 r familial contribution, which cases warrant genetic testing, and which cases should prompt an evalua

85 n the context of emerging direct-to-consumer genetic-testing applications.

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

87 respondents (61%) expressed high interest in genetic testing as a PLD: age >=35 years (adjusted odds

88 isplaying this phenotype should undergo TRDN genetic testing as TKOS may be a cause for otherwise une

89 line/possible disease at the time of initial genetic testing as well as last follow-up, respectively.

90 lthy individuals would exploit the trend for genetic testing at the time of cancer diagnosis to guide

91 mimics, and detailed advice on metabolic and genetic testing available to the practising neurologist.

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

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

94 In clinical care, genetic testing by a physician is accompanied by both pr

95 Results of genetic testing can have a profound effect on clinical m

96 Genetic testing can identify these misclassified patient

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

98 Greater breadth of genetic testing can increase the likelihood of identifyi

99 ased on family cancer history and results of genetic testing can provide a personalized approach to c

100 These observations inform genetic testing, cascade screening, and variant adjudica

101 In the context of genetic testing, clinical utility refers to the ability

102 Moving forwards, genetic testing could enable precision medicine approach

103 ion of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly throu

104 RC/EC tumors, 45% (15 of 33) did not meet LS genetic testing criteria on the basis of personal/family

105 of pathogenic/likely pathogenic variants at genetic testing decreased over time (57.7% versus 45.6%

106 Genetic testing demonstrated disease causing CFTR mutati

107 Genetic testing demonstrated the variant 2 point mutatio

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

109 For genetic testing, dried blood spots were collected and ni

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

111 ephropathy about the gene and possibility of genetic testing early in the donor evaluation, well befo

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

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

114 y breast and ovarian cancer (HBOC), consider genetic testing, especially in the setting of aggressive

115 alies, suggesting a benefit for preoperative genetic testing even when genetic abnormalities are not

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

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

118 Current clinical guidelines for referral for genetic testing failed to identify 6 (26%) patients with

119 l criteria, the kinetics of development, and genetic testing for aneuploidy.

120 re 1731 unrelated HCM patients who underwent genetic testing for at least 1 gene related to an HCM mi

121 Genetic testing for BRCA1, a DNA repair protein, can ide

122 ithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer sus

123 Purpose Genetic testing for breast cancer risk is evolving rapid

124 Genetic testing for cancer risk has expanded rapidly.

125 Germline genetic testing for cancer susceptibility may be discuss

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

127 betes variants, indicating the importance of genetic testing for clinically diagnosed T1D.FUNDINGFund

128 Finally, prenatal and parental genetic testing for DHCR7 should be considered before pr

129 Direct-to-consumer (DTC) genetic testing for disease susceptibility is largely do

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

131 Genetic testing for families with hypertrophic cardiomyo

132 Genetic testing for FH provides important prognostic inf

133 Genetic testing for hereditary predisposition to cancer

134 Postmortem genetic testing for heritable cardiovascular (CV) disord

135 Current guidelines recommend BRCA1 and BRCA2 genetic testing for individuals with a personal or famil

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

137 This article reviews genetic testing for inherited kidney disease in living k

138 testing, full-field electroretinography, and genetic testing for inherited retinal degenerative disea

139 Genetic testing for inherited retinal disease is now mor

140 Genetic testing for IQCB1 and avoidance of matings betwe

141 Apolipoprotein L1 (ApoL1) predictive genetic testing for kidney disease, and its emerging rol

142 This should prompt physicians to conduct genetic testing for LHON in all patients who meet the cl

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

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

145 established clinical biomarkers and augment genetic testing for patient classification, comorbidity

146 crease significantly the clinical utility of genetic testing for patients with HCM.

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

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

149 on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA1/2 mutation

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

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

152 iagnosis of WM has been clearly defined, and genetic testing for somatic mutation of MYD88L265P is a

153 As a result, there has been a shift from genetic testing for specific inherited cancer syndromes

154 eneration sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of si

155 include a slightly lower survival to date of genetic testing for the older cohorts and that we apply

156 Since genetic testing for the premutation is resource intensiv

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

158 In typical medical practice, genetic testing for these conditions is based on persona

159 ma and urine thymidine and deoxyuridine, and genetic testing for TYMP variants, confirmed MNGIE.

160 tine risk assessment, genetic counseling, or genetic testing for women whose personal or family histo

161 tine risk assessment, genetic counseling, or genetic testing for women whose personal or family histo

162 eps in the clinical application of NGS-based genetic testing from an informatics perspective.

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

164 (12) inhibitor on the basis of early CYP2C19 genetic testing (genotype-guided group) or standard trea

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

166 Genetic testing has become an integral component of the

167 are genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paed

168 Clinical genetic testing has exponentially expanded in recent yea

169 Genetic testing has increased the number of variants ide

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

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

172 s, disease-association studies, and clinical genetic testing have grown increasingly reliant on genom

173 Advances in genetic testing have significantly improved the diagnost

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

175 Genetic testing identified 14 out of 40 subjects as havi

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

177 Genetic testing identifies a pathogenic variant in a sig

178 ated features of Adams-Oliver syndrome, with genetic testing identifying a Notch1 mutation in 1 patie

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

180 With the advent of genetic testing in adults, disease-related, structural b

181 article discusses potential indications for genetic testing in an African American patient with chro

182 ies identify RABL3 mutations as a target for genetic testing in cancer families and uncover a mechani

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

184 ese findings, we envisage a broader role for genetic testing in DCM.

185 Techniques for clinical genetic testing in dementia disorders have advanced rapi

186 Previous studies of genetic testing in epilepsy have not been prospective an

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

188 This Comment discusses the role of genetic testing in filling this informational gap and th

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

190 enicity and increase the diagnostic yield of genetic testing in HCM.

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

192 rkflows and illustrates the changing role of genetic testing in modern diagnostic workflows for heter

193 re, we describe the first instance of CANVAS genetic testing in New Zealand Maori and Cook Island Mao

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

195 Our data highlight the importance of genetic testing in Parkinson's disease patients with age

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

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

198 raphy, cardiopulmonary exercise testing, and genetic testing in predicting the outcome of detraining.

199 nd suggests a prominent role of imaging over genetic testing in promoting HCM diagnoses and urges eff

200 ) technologies have changed the landscape of genetic testing in rare diseases.

201 of risk assessment, genetic counseling, and genetic testing in reducing incidence and mortality of B

202 he accuracy and reproducibility of NGS-based genetic testing in the context of rare disease diagnosis

203 eport illustrates the substantial benefit of genetic testing in the family of a patient diagnosed wit

204 e literature and highlight the importance of genetic testing in the relevant clinical context of elec

205 luding whether clinicians should incorporate genetic testing in the screening process for living kidn

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

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

208 ation of patients who underwent HCM-directed genetic testing including at least 1 gene associated wit

209 on advertising for laboratory tests (such as genetic testing) increased from $75.4 million to $82.6 m

210 This article reviews how genetic testing informs treatment and potential risks fo

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

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

213 all, our findings highlight that panel-based genetic testing is a clinically useful test with a high

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

215 Genetic testing is a valuable tool for managing inherite

216 h precision medicine and, more specifically, genetic testing is altering the treatment of breast canc

217 s and precision medicine, direct-to-consumer genetic testing is becoming increasingly popular, and cl

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

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

220 Background Genetic testing is helpful for diagnosis of hypertrophic

221 Conclusions Genetic testing is helpful in the diagnosis of HCM mimic

222 As a result, comprehensive genetic testing is imperative in patients who meet the c

223 Although genetic testing is important in research, it is not reco

224 Genetic testing is recommended for infants with very-ear

225 Genetic testing is recommended to identify children who

226 will not possess APOL1 high-risk genotypes, genetic testing is unlikely to markedly increase donor d

227 Genetic testing is used in germline and tumor testing, w

228 Genetic testing is used widely for diagnostic, carrier a

229 rospects of making a successful diagnosis by genetic testing, it is important that the full range of

230 s associated with positive attitudes towards genetic testing, lower education, higher subjective nume

231 valuation with cerebrospinal fluid assays or genetic testing may be considered in atypical dementia c

232 While genetic testing may be the gateway to the future of medi

233 Genetic testing may inform prevention, diagnosis, and tr

234 ical history of the deceased, and results of genetic testing may reveal a diagnosis.

235 henotyping, telomere length assessments, and genetic testing.Measurements and Main Results: Of the 10

236 learning, compared with the current standard genetic testing method, was associated with higher sensi

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

238 nic mutations have been identified in BRIP1, genetic testing more often reveals missense variants, fo

239 colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associate

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

241 clinic, with a clinical diagnosis of HCM and genetic testing of at least 46 cardiomyopathy-associated

242 Genetic counseling and germline genetic testing of cancer predisposition genes should be

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

244 The indication for genetic testing of CDH1 was given due to the patient's y

245 Hereditary cancer genetic testing of family members should include a discu

246 Conventional genetic testing of individuals with neurodevelopmental p

247 Clinical genetic testing of known hereditary thoracic aortic diss

248 " which could be addressed by greater use of genetic testing of patients seen by cardiologists.

249 Peridiagnostic and cascade cancer genetic testing offers an alternative strategy to achiev

250 Until recently, there were no genetic testing options available for multifactorial com

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

252 Genetic testing performed in three patients confirmed hi

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

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

255 many patients lack overt syndromic features, genetic testing plays an important role in the diagnosti

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

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

258 s are recommended to be reported in clinical genetic testing practice.

259 Cascade genetic testing provides a method to appropriately focus

260 me is challenging, and patient selection for genetic testing relies on diagnostic criteria, which hav

261 EDS is challenging and patient selection for genetic testing relies on diagnostic criteria, which hav

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

263 phenotypic evaluations in clinical genetics, genetic testing, research and precision medicine.

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

265 Positive genetic testing resulted in utilization of genetically t

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

267 dative vitreoretinopathy, pedigree analysis, genetic testing, retinal imaging, and anatomic outcomes

268 Genetic testing revealed a pathogenic mutation in 159 pa

269 nts include clinical diagnostic criteria and genetic testing; risk restratification strategies; LDL-c

270 Genetic testing should be advocated in young patients wi

271 Genetic testing should be considered in individuals with

272 Genetic testing showed that he had both copies of VNTR B

273 Several startups in the genetic testing space are aiming to empower individuals

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

275 Medalist cohort was highly heterogenous, and genetic testing suggested that several patients would fa

276 ing population of adult patients, widespread genetic testing supporting the diagnosis of cystic fibro

277 This study reveals an unmet clinical need of genetic testing that could benefit a significant proport

278 of patients with AF do not recommend routine genetic testing, this rapidly increasing knowledge base

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

280 of risk assessment, genetic counseling, and genetic testing to reduce cancer incidence and mortality

281 ed to support or reject ambiguous results of genetic testing, to suggest underlying pathogenic pathwa

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

283 with prostate cancer and melanoma, germline genetic testing using deep learning, compared with the c

284 n at clinic (4.11 versus 1.06), and utilized genetic testing versus biochemical testing (2.47 versus

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

286 Genetic testing was negative in 78 subjects, but 45 were

287 Genetic testing was performed at treating physicians' di

288 Genetic testing was performed in all participants.

289 Genetic testing was performed to exclude Y chromosome mi

290 Postmortem genetic testing was undertaken in 24 of 202 (12%).

291 ts within RBM20 were considered suitable for genetic testing when they fulfilled the criteria of (1)

292 hase indocyanine green angiography, prompted genetic testing which revealed the c.1171A>G variant in

293 She underwent germline genetic testing, which did not identify a mutation in th

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

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

296 ndogenous fluorophores in the eye along with genetic testing will dramatically improve diagnostic cap

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

298 ts choosing to have direct-to-consumer (DTC) genetic testing without involving their clinicians has i

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

300 Postmortem genetic testing yielded pathogenic variants in ACM-relat