2025
Perceived understanding and psychosocial outcomes: employees’ responses to learning results of workplace genetic testing
Charnysh E, McCain S, Truhlar A, Pal S, Reader J, Sanghavi K, Uhlmann W, Hendy K, Leader A, Blasco D, Prince A, Feero W, Brandt R, Giri V, Lee C, Roberts J. Perceived understanding and psychosocial outcomes: employees’ responses to learning results of workplace genetic testing. Personalized Medicine 2025, ahead-of-print: 1-11. PMID: 40497788, DOI: 10.1080/17410541.2025.2515003.Peer-Reviewed Original ResearchPsychosocial responsesGenetic testingIncreased riskUS healthcare systemAbstractText Label="MATERIALS &Open-ended responsesPositive feelingsPredictors of scoresAssociated with lower levelsPsychosocial supportPsychosocial harmPsychosocial outcomesHealthcare systemAfrican American/BlackMean scoreResults QuestionnairesPerceived understandingNegative emotionsDifficulty interpretingAbstractText Label="AIMTesting understandingUncertainty scoreRegression analysisScoresFeelingsO-149 No effect of maternal age on embryo implantation and live birth rates after preimplantation genetic testing for aneuploidies: retrospective analysis of 11,855 single blastocyst transfers
Gayete-Mor B, Miguel-Escalada I, Kalafat E, Zamora M, Pujol A, Lledó B, Stoop D, Lorenzon A, Rodriguez-Aranda A, Sakkas D, Popovic M. O-149 No effect of maternal age on embryo implantation and live birth rates after preimplantation genetic testing for aneuploidies: retrospective analysis of 11,855 single blastocyst transfers. Human Reproduction 2025, 40: deaf097.149. DOI: 10.1093/humrep/deaf097.149.Peer-Reviewed Original ResearchEuploid embryo transferAge-related fertility declineAdvanced maternal ageLive birth ratePreimplantation genetic testingEmbryo qualityMaternal ageLive birthsEuploid embryosFertility declineEmbryo transferClinical outcomesClinical pregnancyEffect of maternal agePGT-AAssociated with poor embryo qualityBirth rateOlder patientsGenetic testingReproductive outcomesEuploid blastocyst transferGood-quality blastocystsReduced oocyte yieldPoor embryo qualityPoor-quality embryosGenetics and family history in a diverse cohort of females with early-onset breast cancer.
Shroff T, Proussaloglou E, Namboodiri A, Gross L, Gong G, Wei W, Giri V. Genetics and family history in a diverse cohort of females with early-onset breast cancer. Journal Of Clinical Oncology 2025, 43: 10613-10613. DOI: 10.1200/jco.2025.43.16_suppl.10613.Peer-Reviewed Original ResearchEarly-onset breast cancerFamily historyGenetic testingEarly-onset breast cancer riskFamily history of breast cancerClinical careFamily history of cancerHistory of breast cancerFamily history of breastDiverse cohortBreast cancerCancer genetics programPrevalence of pathogenic/likely pathogenic variantsWhite patientsGermline genetic testingDiverse racial/ethnic populationsGenetic test resultsComprehensive cancer centerBreast cancer susceptibility genesElectronic medical recordsCancer predisposition genesAshkenazi Jewish ancestryDiverse patient populationsCancer susceptibility genesDiverse cohort of patientsBarriers to germline genetic testing in advanced prostate cancer: Survey results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium (PCCTC).
Sokolova A, Paller C, Antonarakis E, Barata P, Berchuck J, Darst B, Giri V, Graffeo R, Hathaway F, Kwon D, Loeb S, McKay R, Reichert Z, Ribeiro M, Sachdeva A, Stadler W, Stein M, Taplin M, Weg E, Cheng H. Barriers to germline genetic testing in advanced prostate cancer: Survey results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium (PCCTC). Journal Of Clinical Oncology 2025, 43 DOI: 10.1200/jco.2025.43.16_suppl.e17073.Peer-Reviewed Original ResearchGermline genetic testingProstate Cancer Clinical Trials ConsortiumHigh-risk localized prostate cancerGermline testingGenetic testingLocalized prostate cancerAdvanced prostate cancerProstate cancer patientsProstate cancerGenetic counselorsParticipating physiciansClinical workflowMPCa patientsPost-test counsellingGenetic test resultsFree-text commentsSurvey of physiciansMetastatic prostate cancerPhysician uptakeTesting uptakeGenetics educationPerceived barriersClinic flowClinical Trials ConsortiumFamily historyCancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications. Journal Of Clinical Oncology 2025, 43: 10616-10616. DOI: 10.1200/jco.2025.43.16_suppl.10616.Peer-Reviewed Original ResearchLynch syndromeInherited cancer syndromeFamily historyPersonal historyCancer syndromesFamily history of colorectal cancerColorectal cancerPersonal history of cancerFamily history of cancerYale New Haven Health SystemLS-related cancersGenetic testingLS-associated cancersCancer genetic evaluationAt-riskIdentification of at-risk individualsAt-risk individualsPathogenic variantsLS cancersComparison of categorical variablesIndividuals at-riskEO-CRCPearson chi-squareHealth systemDescriptive statisticsDietary Oxalate Nephropathy Due to Pureed Feeds
Panchal R, Rytting H, Chinnadurai A, Greenbaum L. Dietary Oxalate Nephropathy Due to Pureed Feeds. Kidney Medicine 2025, 101048. DOI: 10.1016/j.xkme.2025.101048.Peer-Reviewed Original ResearchOxalate nephropathyUrinary oxalateHigher intake of foodsSecondary oxalate nephropathyChronic high intakePureed foodsIntake of foodIntake of oxalateCounselling of childrenElevated creatinineKidney biopsyTubular injuryDietary modificationDietary intakeNutritional counselingPrimary hyperoxaluriaKidney functionOxalate intakeGenetic testingKidney failureDietary intake of oxalateKidney stonesKidneyCreatinineNephropathyUtilizing peer educators to increase genetic testing for prostate cancer among black males: results of a randomized controlled trial
Leader A, Godbolt J, Crumpler N, Gross L, Hartman R, Keith S, Giri V. Utilizing peer educators to increase genetic testing for prostate cancer among black males: results of a randomized controlled trial. Journal Of The National Medical Association 2025 PMID: 40447525, DOI: 10.1016/j.jnma.2025.05.005.Peer-Reviewed Original ResearchPeer educatorsGenetic testingBenefits of genetic testingRates of genetic testingGroup-based discussionsBlack malesIncreased genetic testingPeer-based strategiesProstate cancerRandomized controlled trialsDecisional conflictIntervention armEducational interventionCommunity settingsEndpoint surveyControl armEducational materialsGenetic counselingDecreased intentionIncreased intentionStudy armsInformation materialsInterventionEducationComplex decisionsAt-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. At-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes. Journal Of Clinical Oncology 2025, 43: 1600-1600. DOI: 10.1200/jco.2025.43.16_suppl.1600.Peer-Reviewed Original ResearchHereditary cancer syndromesOvercome disparitiesAt-riskGenetic testingHereditary cancer syndrome identificationCancer genetic syndromesPreventable cancer deathsMedicaid-insured individualsComplexity of guidelinesAt-risk individualsPathogenic variantsIndividuals at-riskNon-white individualsDecline testingLynch syndromeUnderserved populationsHealth systemNon-HispanicCancer syndromesChi-square testEligible individualsFamily historyInformational videoCancer deathGenetic counselingElectronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes
Singh V, Rafter T, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes. Journal Of Medical Genetics 2025, 62: 457-463. PMID: 40350248, DOI: 10.1136/jmg-2025-110718.Peer-Reviewed Original ResearchConceptsHereditary cancer syndromesElectronic health recordsGenetic testingElectronic health record-based registryCancer syndromesIdentification of individualsFamily history of cancerFamily historyFamily history criteriaAt-riskHistory of cancerAt-risk individualsHealth recordsPathogenic variantsProspective identification of individualsRegistryActive patientsSyndrome identificationFamily relationshipsIncreased diagnostic rateCancer-related survivalStreamlined processProspective identificationIndividualsTesting needsAssociation of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatientsUnited States racial/ethnic disparities in PGT-A use: an analysis of 2014–2020 SART CORS database
Mason-Otey A, Seifer D. United States racial/ethnic disparities in PGT-A use: an analysis of 2014–2020 SART CORS database. Reproductive Biology And Endocrinology 2025, 23: 66. PMID: 40349066, PMCID: PMC12065204, DOI: 10.1186/s12958-025-01399-8.Peer-Reviewed Original ResearchConceptsPGT-AMultiple logistic regressionART cyclesHispanic womenAsian womenSociety for Assisted Reproductive Technology Clinic Outcome Reporting SystemWhite womenSelection of euploid embryosPreimplantation genetic testingRetrospective cohort studyOutcome Reporting SystemAutologous ART cyclesSART CORS databaseEuploid embryosSART CORSAutologous cyclesCohort studyGenetic testingMinority womenLogistic regressionWomenBackgroundThe useResultsThis studyUnited StatesRacial/ethnic disparitiesAutosomal dominant polycystic kidney disease without apparent family history: A single-center experience.
Samuels M, Maarouf O, Zeng W, Hamrahian M, Dahl N, Zhang J. Autosomal dominant polycystic kidney disease without apparent family history: A single-center experience. Clinical Nephrology 2025 PMID: 40329829, DOI: 10.5414/cn111677.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDisease-causing variantsDominant polycystic kidney diseaseFamily historyPolycystic kidney diseaseAutosomal dominant polycystic kidney disease phenotypeKidney diseaseHistory of autosomal dominant polycystic kidney diseaseFamily history of autosomal dominant polycystic kidney diseaseSingle-center experienceApparent family historyThomas Jefferson University HospitalGenetic test resultsADPKD patientsPKD patientsKidney functionGenetic diagnosisGenetic testingUniversity HospitalAccurate diagnosisPatientsKidney failureClinical diagnosisDisease accountPracticing nephrologistsCost-effectiveness of Lynch syndrome screening in colorectal cancer: universal germline vs sequential screening
Ito S, Xicola R, Sra M, Potnis K, Singh V, Gershkovich P, Stites E, Gibson J, Krumholz H, Llor X, Goshua G. Cost-effectiveness of Lynch syndrome screening in colorectal cancer: universal germline vs sequential screening. Clinical Gastroenterology And Hepatology 2025 PMID: 40315972, DOI: 10.1016/j.cgh.2025.03.006.Peer-Reviewed Original ResearchLynch syndromeIncremental cost-effectiveness ratioGermline testingColorectal cancerProspective Lynch Syndrome DatabaseColorectal cancer probandsNational Cancer Institute's SurveillancePre-/post-interventionPreventing cancer incidenceLynch syndrome screeningEnd Results ProgramCost-effective interventionHealth system perspectiveCost-effectiveCancer incidenceQuality-adjusted life expectancyInstitute's SurveillanceResults ProgramProspective interventionStandard-of-careCost-effectiveness ratioLS testingCohort studyGenetic testingPrimary outcomeWorkplace perk or pitfall? A qualitative study of genetic counselors' perspectives and experiences with workplace genetic testing
Charnysh E, Hendy K, Ryan K, Prince A, Feero W, Vogle A, McCain S, Truhlar A, Roberts J, Lee C, Sanghavi K, Uhlmann W, Blasco D, Cohn B, Crumpler N, Ferber R, Giri V, Leader A, Mathews D, Spector‐Bagdady K, Brothers K, Clayton E, Deverka P, Ellis T, Goldenberg A, Mockus S, Morton C, Rueter J, Witham B, Bessey E, Gordon E, Lee L, Roberts J, Saidi F. Workplace perk or pitfall? A qualitative study of genetic counselors' perspectives and experiences with workplace genetic testing. Journal Of Genetic Counseling 2025, 34: e70016. PMID: 40305363, PMCID: PMC12043034, DOI: 10.1002/jgc4.70016.Peer-Reviewed Original ResearchConceptsGenetic counselors' perspectivesGenetic counselorsGenetic testingGenomic screening effortsExperiences of genetic counselorsGeneral populationIncrease accessPost-test educationDe-identified transcriptsImprove health outcomesPost-test counsellingCodebook thematic analysisFollow-up careScreening effortsCardiovascular disease riskSemi-structured interviewsMitigate potential harmGenetic servicesHealthcare disparitiesHealth outcomesDecisional regretInterview guidePsychological distressFalse reassuranceThematic analysisPerinatal Outcomes Are Similar in Programmed and Modified Natural Frozen Embryo Transfer Cycles
Farrel A, Yuen M, Dodge L, Sakkas D, Vaughan D, Toth T. Perinatal Outcomes Are Similar in Programmed and Modified Natural Frozen Embryo Transfer Cycles. Obstetrical & Gynecological Survey 2025, 80: 235-236. DOI: 10.1097/ogx.0000000000001393.Peer-Reviewed Original ResearchFrozen embryo transfer cyclesEmbryo transfer cyclesFrozen embryo transferEmbryo transferTransfer cyclesOvarian hyperstimulation syndromeFresh embryo transferHyperstimulation syndromeUnited StatesPerinatal outcomesFertilizer treatmentsClinical outcomesGenetic testingReduced likelihoodLikelihood of successIncreased patient autonomyImproved likelihoodAutonomyGenomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchConceptsCongenital heart disease genesCongenital heart diseaseDamaging variantsMissense variantsAnalyzing de novo mutationsCHD probandsEpidermal growth factor (EGF)-like domainsNeurodevelopmental delayLoss of function variantsParent-offspring triosSyndromic congenital heart diseaseHeart disease genesDisease genesGenomic analysisCongenital heart disease subtypesAssociated with neurodevelopmental delayTetralogy of FallotFunctional variantsIncomplete penetranceCHD phenotypesGenesAssociated with developmentGenetic testingMolecular diagnosticsExtracardiac abnormalitiesAllele-specific electrical genotyping for diagnosis of transthyretin amyloidosis
Tayyab M, Gandotra N, Sui J, Scharfe C, Javanmard M. Allele-specific electrical genotyping for diagnosis of transthyretin amyloidosis. Communications Engineering 2025, 4: 47. PMID: 40082707, PMCID: PMC11906782, DOI: 10.1038/s44172-025-00385-7.Peer-Reviewed Original ResearchAllele-specific polymerase chain reactionDNA input requirementsClinical genetic testingDNA variantsWest African ancestryVariant detectionOligonucleotide primersPCR productsGel electrophoresisVariant allelesAfrican ancestryGenetic testingDNA concentrationPolymerase chain reactionDNACongestive heart failureGenotypesChain reactionMicrofluidic impedance cytometryHereditary transthyretinTransthyretin amyloidosisHeart failureImpedance cytometryTransthyretinPrimersModeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A, Sheppard M, Famulski J, Nicoli S, Mukherjee S, Sips P, Elefteriades J. Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Frontiers In Cardiovascular Medicine 2025, 12: 1480407. PMID: 40066353, PMCID: PMC11892108, DOI: 10.3389/fcvm.2025.1480407.Peer-Reviewed Original ResearchPathogenicity of VUSProportion of variantsMedical genetic testingCausal genesPathogenicity assessmentClinical pathogensTested pathogensGenetic variantsCausative genesTAAD casesGenesGenetic defectsGenetic testingThoracic aortic aneurysmHeritable genetic defectsImpact cardiovascular morbidityPathogensVUSAortic aneurysmCardiovascular morbidityVariantsZebrafishTAADClinical applicationEnhance patient careX-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
Ali D, Carpenter T, Imel E, Ward L, Appelman-Dijkstra N, Chaussain C, de Beur S, Florenzano P, Abu Alrob H, Aldabagh R, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Crowley R, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Morrison A, Portale A, Rao C, Rhee Y, Rush E, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi M, Khan A. X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 2055-2070. PMID: 39960858, PMCID: PMC12187519, DOI: 10.1210/clinem/dgaf093.Peer-Reviewed Original ResearchClinical practice guidelinesInternational Working GroupX-linked hypophosphatemiaClinical practice surveyPractice guidelinesMultidisciplinary healthcare professionalsPractice surveyManagement of "X-linked hypophosphatemiaPatient-important outcomesCertainty of evidenceCare of childrenNo therapyConventional therapyHealthcare professionalsDiagnosis of XLHPatient partnersMonitoring recommendationsTreatment of X-linked hypophosphatemiaMethodological expertsGRADE recommendationsSystematic reviewGenetic testingGRADE methodologyNarrative reviewDental complicationsDiagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey
Moen E, Prior T, Kreuter M, Wuyts W, Molina-Molina M, Wijsenbeek M, Morais A, Tzouvelekis A, Ryerson C, Caro F, Buendia-Roldan I, Magnusson J, Lee J, Morisett J, Oldham J, Troy L, Funke-Chambour M, Alberti M, Borie R, Walsh S, Rajan S, Kondoh Y, Khor Y, Bendstrup E. Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey. BMC Pulmonary Medicine 2025, 25: 59. PMID: 39901224, PMCID: PMC11792556, DOI: 10.1186/s12890-025-03532-0.Peer-Reviewed Original ResearchConceptsGenetic testing methodsMultidisciplinary teamGenetic testingFamily historyInterstitial lung diseaseHistory of interstitial lung diseaseRecommended genetic testingScreening of first-degree relativesFamilial interstitial lung diseaseEvidence-based guidelinesGenetic screening of relativesScreening of relativesFirst-degree relativesCharacteristics of respondentsInternational surveyPathogenic genetic variantsScreening toolLung transplantationInsufficient evidenceLung diseaseConsensus statementGenetic variantsFollow-up of patientsStandard programRespondents
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