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Do research participants share genomic screening results with family members?
Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Wynn J, et al. J Genet Couns. 2022 Apr;31(2):447-458. doi: 10.1002/jgc4.1511. Epub 2021 Oct 19. J Genet Couns. 2022. PMID: 34665896 Free PMC article.
The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been res …
The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communic …
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
OBJECTIVE: To survey germline genetic causes of polymicrogyria in a large cohort and to consider novel polymicrogyria gene associations. DESIGN, SETTING, AND PARTICIPANTS: This genetic association study analyzed panel sequencing and exome sequencing of accrued DNA samples …
OBJECTIVE: To survey germline genetic causes of polymicrogyria in a large cohort and to consider novel polymicrogyria gene associations. DES …
Virtual Histology of Cortical Thickness and Shared Neurobiology in 6 Psychiatric Disorders.
Writing Committee for the Attention-Deficit/Hyperactivity Disorder; Autism Spectrum Disorder; Bipolar Disorder; Major Depressive Disorder; Obsessive-Compulsive Disorder; and Schizophrenia ENIGMA Working Groups; Patel Y, Parker N, Shin J, Howard D, French L, Thomopoulos SI, Pozzi E, Abe Y, Abé C, Anticevic A, Alda M, Aleman A, Alloza C, Alonso-Lana S, Ameis SH, Anagnostou E, McIntosh AA, Arango C, Arnold PD, Asherson P, Assogna F, Auzias G, Ayesa-Arriola R, Bakker G, Banaj N, Banaschewski T, Bandeira CE, Baranov A, Bargalló N, Bau CHD, Baumeister S, Baune BT, Bellgrove MA, Benedetti F, Bertolino A, Boedhoe PSW, Boks M, Bollettini I, Del Mar Bonnin C, Borgers T, Borgwardt S, Brandeis D, Brennan BP, Bruggemann JM, Bülow R, Busatto GF, Calderoni S, Calhoun VD, Calvo R, Canales-Rodríguez EJ, Cannon DM, Carr VJ, Cascella N, Cercignani M, Chaim-Avancini TM, Christakou A, Coghill D, Conzelmann A, Crespo-Facorro B, Cubillo AI, Cullen KR, Cupertino RB, Daly E, Dannlowski U, Davey CG, Denys D, Deruelle C, Di Giorgio A, Dickie EW, Dima D, Dohm K, Ehrlich S, Ely BA, Erwin-Grabner T, Ethofer T, Fair DA, Fallgatter AJ, Faraone SV, Fatjó-Vilas M, Fedor JM, Fitzgerald KD, Ford JM, Frodl T, Fu CHY,… See abstract for full author list ➔ Writing Committee for the Attention-Deficit/Hyperactivity Disorder, et al. JAMA Psychiatry. 2021 Jan 1;78(1):47-63. doi: 10.1001/jamapsychiatry.2020.2694. JAMA Psychiatry. 2021. PMID: 32857118 Free PMC article.
MAIN OUTCOMES AND MEASURES: Interregional profiles of group difference in cortical thickness between cases and controls. RESULTS: A total of 12 721 cases and 15 600 controls, ranging from ages 2 to 89 years, were included in this study. ...CONCLUSIONS AND RELEVANCE: In thi …
MAIN OUTCOMES AND MEASURES: Interregional profiles of group difference in cortical thickness between cases and controls. RESULTS: A t …
The Alzheimer's Disease Neuroimaging Initiative in the era of Alzheimer's disease treatment: A review of ADNI studies from 2021 to 2022.
Veitch DP, Weiner MW, Miller M, Aisen PS, Ashford MA, Beckett LA, Green RC, Harvey D, Jack CR Jr, Jagust W, Landau SM, Morris JC, Nho KT, Nosheny R, Okonkwo O, Perrin RJ, Petersen RC, Rivera Mindt M, Saykin A, Shaw LM, Toga AW, Tosun D; Alzheimer's Disease Neuroimaging Initiative. Veitch DP, et al. Alzheimers Dement. 2024 Jan;20(1):652-694. doi: 10.1002/alz.13449. Epub 2023 Sep 12. Alzheimers Dement. 2024. PMID: 37698424 Free PMC article. Review.
This review details how ADNI studies improved disease progression understanding and clinical trial efficiency. Advances in subject selection, detection of treatment effects, harmonization, and modeling improved clinical trials and plasma biomarkers like phosphorylated tau …
This review details how ADNI studies improved disease progression understanding and clinical trial efficiency. Advances in subject selection …
MRI Radiogenomics of Pediatric Medulloblastoma: A Multicenter Study.
Zhang M, Wong SW, Wright JN, Wagner MW, Toescu S, Han M, Tam LT, Zhou Q, Ahmadian SS, Shpanskaya K, Lummus S, Lai H, Eghbal A, Radmanesh A, Nemelka J, Harward S 2nd, Malinzak M, Laughlin S, Perreault S, Braun KRM, Lober RM, Cho YJ, Ertl-Wagner B, Ho CY, Mankad K, Vogel H, Cheshier SH, Jacques TS, Aquilina K, Fisher PG, Taylor M, Poussaint T, Vitanza NA, Grant GA, Pfister S, Thompson E, Jaju A, Ramaswamy V, Yeom KW. Zhang M, et al. Radiology. 2022 Aug;304(2):406-416. doi: 10.1148/radiol.212137. Epub 2022 Apr 19. Radiology. 2022. PMID: 35438562 Free PMC article.
Background Radiogenomics of pediatric medulloblastoma (MB) offers an opportunity for MB risk stratification, which may aid therapeutic decision making, family counseling, and selection of patient groups suitable for targeted genetic analysis. ...Model accuracy score was co …
Background Radiogenomics of pediatric medulloblastoma (MB) offers an opportunity for MB risk stratification, which may aid therapeutic decis …
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B. Jahn A, et al. Ann Oncol. 2022 Nov;33(11):1186-1199. doi: 10.1016/j.annonc.2022.07.008. Epub 2022 Aug 18. Ann Oncol. 2022. PMID: 35988656 Free article.
Clinical and therapeutic relevance of prospective pathogenic germline variant (PGV) evaluation was analyzed and compared to other precision oncology studies. RESULTS: Ten percent of patients (n = 157) harbored PGVs in 35 genes associated with autosomal dominant cancer …
Clinical and therapeutic relevance of prospective pathogenic germline variant (PGV) evaluation was analyzed and compared to other precision …
Longitudinal Follow-Up of Participants With Tobacco Exposure and Preserved Spirometry.
McKleroy W, Shing T, Anderson WH, Arjomandi M, Awan HA, Barjaktarevic I, Barr RG, Bleecker ER, Boscardin J, Bowler RP, Buhr RG, Criner GJ, Comellas AP, Curtis JL, Dransfield M, Doerschuk CM, Dolezal BA, Drummond MB, Han MK, Hansel NN, Helton K, Hoffman EA, Kaner RJ, Kanner RE, Krishnan JA, Lazarus SC, Martinez FJ, Ohar J, Ortega VE, Paine R 3rd, Peters SP, Reinhardt JM, Rennard S, Smith BM, Tashkin DP, Couper D, Cooper CB, Woodruff PG. McKleroy W, et al. JAMA. 2023 Aug 1;330(5):442-453. doi: 10.1001/jama.2023.11676. JAMA. 2023. PMID: 37526720 Free PMC article.
Participants in SPIROMICS II had 1 additional in-person visit 5 to 7 years after enrollment in SPIROMICS I. ...RESULTS: Of 1397 study participants, 226 had symptomatic TEPS (mean age, 60.1 [SD, 9.8] years; 134 were women [59%]) and 269 had asymptomatic TEPS ( …
Participants in SPIROMICS II had 1 additional in-person visit 5 to 7 years after enrollment in SPIROMICS I. ...RESULTS: Of 139 …
Vigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study.
Lampert R, Day S, Ainsworth B, Burg M, Marino BS, Salberg L, Tome Esteban MT, Abrams DJ, Aziz PF, Barth C, Behr ER, Bell C, Berul CI, Bos JM, Bradley D, Cannom DS, Cannon BC, Concannon MA, Cerrone M, Czosek RJ, Dubin AM, Dziura J, Erickson CC, Estes NAM 3rd, Etheridge SP, Goldenberg I, Gray B, Haglund-Turnquist C, Harmon K, James CA, Johnsrude C, Kannankeril P, Lara A, Law IH, Li F, Link MS, Molossi SM, Olshansky B, Noseworthy PA, Saarel EV, Sanatani S, Shah M, Simone L, Skinner J, Tomaselli GF, Ware JS, Webster G, Zareba W, Zipes DP, Ackerman MJ. Lampert R, et al. Circulation. 2024 Aug 13;150(7):516-530. doi: 10.1161/CIRCULATIONAHA.123.067590. Epub 2024 Jul 25. Circulation. 2024. PMID: 39051104 Free article.
A noninferiority hypothesis (boundary of 1.5) between vigorous exercisers and others was tested with multivariable Cox regression analysis. RESULTS: Among the 1413 participants (13% <18 years of age, 35% 18-25 years of age, 67% female, 25% with implantable cardio …
A noninferiority hypothesis (boundary of 1.5) between vigorous exercisers and others was tested with multivariable Cox regression analysis. …
Female family members lack understanding of indeterminate negative BRCA1/2 test results shared by probands.
Himes DO, Gibbons DK, Birmingham WC, Beckstrand RL, Gammon A, Kinney AY, Clayton MF. Himes DO, et al. J Genet Couns. 2019 Oct;28(5):950-961. doi: 10.1002/jgc4.1147. Epub 2019 Jun 14. J Genet Couns. 2019. PMID: 31199558 Free PMC article.
Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. ...Future research should evaluate acceptability and feasibility of providing f …
Genetic test results have important implications for close family members. Indeterminate negative results are th …
Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
Gaieski JB, Patrick-Miller L, Egleston BL, Maxwell KN, Walser S, DiGiovanni L, Brower J, Fetzer D, Ganzak A, McKenna D, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM, Bradbury AR. Gaieski JB, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e898. doi: 10.1002/mgg3.898. Epub 2019 Aug 3. Mol Genet Genomic Med. 2019. PMID: 31376244 Free PMC article. Clinical Trial.
BACKGROUND: While there is increasing interest in sharing genetic research results with participants, how best to communicate the risks, benefits and limitations of research results remains unclear. ...RESULTS: 107 BRCA1/2 negative …
BACKGROUND: While there is increasing interest in sharing genetic research results with participants, how best t …
172 results