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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. 2021 Oct 19. doi: 10.1002/jgc4.1511. Online ahead of print. J Genet Couns. 2021. PMID: 34665896
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 …
Metabolic network failures in Alzheimer's disease: A biochemical road map.
Toledo JB, Arnold M, Kastenmüller G, Chang R, Baillie RA, Han X, Thambisetty M, Tenenbaum JD, Suhre K, Thompson JW, John-Williams LS, MahmoudianDehkordi S, Rotroff DM, Jack JR, Motsinger-Reif A, Risacher SL, Blach C, Lucas JE, Massaro T, Louie G, Zhu H, Dallmann G, Klavins K, Koal T, Kim S, Nho K, Shen L, Casanova R, Varma S, Legido-Quigley C, Moseley MA, Zhu K, Henrion MYR, van der Lee SJ, Harms AC, Demirkan A, Hankemeier T, van Duijn CM, Trojanowski JQ, Shaw LM, Saykin AJ, Weiner MW, Doraiswamy PM, Kaddurah-Daouk R; Alzheimer's Disease Neuroimaging Initiative and the Alzheimer Disease Metabolomics Consortium. Toledo JB, et al. Alzheimers Dement. 2017 Sep;13(9):965-984. doi: 10.1016/j.jalz.2017.01.020. Epub 2017 Mar 22. Alzheimers Dement. 2017. PMID: 28341160 Free PMC article.
INTRODUCTION: The Alzheimer's Disease Research Summits of 2012 and 2015 incorporated experts from academia, industry, and nonprofit organizations to develop new research directions to transform our understanding of Alzheimer's disease (AD) and propel t …
INTRODUCTION: The Alzheimer's Disease Research Summits of 2012 and 2015 incorporated experts from academia, industry, and nonp …
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Wasserstein MP, et al. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093709 Free PMC article.
Screening on consented samples was performed using multiplexed tandem mass spectrometry. ...Affected infants are being followed for clinical management and long-term outcome. RESULTS: Over 4 years, 65,605 infants participated, representing an overall c …
Screening on consented samples was performed using multiplexed tandem mass spectrometry. ...Affected infants are being followe …
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 …
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Taylor RW, et al. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184. JAMA. 2014. PMID: 25058219 Free PMC article.
OBJECTIVE: To determine the molecular basis of multiple respiratory chain complex deficiencies. DESIGN, SETTING, AND PARTICIPANTS: We studied 53 patients referred to 2 national centers in the United Kingdom and Germany between 2005 and 2012. ...Whole-exome sequencing was p …
OBJECTIVE: To determine the molecular basis of multiple respiratory chain complex deficiencies. DESIGN, SETTING, AND PARTICIPANTS: We …
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.
Little is known about family members' understanding of indeterminate negative BRCA1/2 test results. ...Future research should evaluate acceptability and feasibility of providing family members letters they can share with their own …
Little is known about family members' understanding of indeterminate negative BRCA1/2 test results. ...Future resear …
Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.
Wolf SM, Scholtes E, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS. Wolf SM, et al. J Law Med Ethics. 2018 Mar;46(1):87-109. doi: 10.1177/1073110518766024. Epub 2018 Mar 27. J Law Med Ethics. 2018. PMID: 30008546 Free PMC article. No abstract available.
Primary care provider perspectives on using genomic sequencing in the care of healthy children.
Joshi E, Mighton C, Clausen M, Casalino S, Kim THM, Kowal C, Birken C, Maguire JL, Bombard Y. Joshi E, et al. Eur J Hum Genet. 2020 May;28(5):551-557. doi: 10.1038/s41431-019-0547-6. Epub 2019 Dec 5. Eur J Hum Genet. 2020. PMID: 31804631 Free PMC article.
Participants valued GS in healthy children for research purposes; however, opinions diverged on using the results in primary care. ...Both groups shared concerns over opportunistic screening, validity, and interpretation of results, incre …
Participants valued GS in healthy children for research purposes; however, opinions diverged on using the results in pr …
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication.
Harris S, Cirino AL, Carr CW, Tafessu HM, Parmar S, Greenberg JO, Szent-Gyorgyi LE, Ghazinouri R, Glowny MG, McNeil K, Kaynor EF, Neumann C, Seidman CE, MacRae CA, Ho CY, Lakdawala NK. Harris S, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e940. doi: 10.1002/mgg3.940. Epub 2019 Sep 3. Mol Genet Genomic Med. 2019. PMID: 31482667 Free PMC article.
In both phases, probands reported that 51% of FDRs had been screened (382/749 in Phase I, 258/504 in Phase II). Twenty patients participated in a pilot study on video utilization and family communication. Nine participants reported watching the video a …
In both phases, probands reported that 51% of FDRs had been screened (382/749 in Phase I, 258/504 in Phase II). Twenty patients pa …
Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing.
Ding J, Dimitriadou E, Tšuiko O, Destouni A, Melotte C, Van Den Bogaert K, Debrock S, Jatsenko T, Esteki MZ, Voet T, Peeraer K, Denayer E, Vermeesch JR. Ding J, et al. Hum Reprod. 2020 Mar 27;35(3):718-726. doi: 10.1093/humrep/dez285. Hum Reprod. 2020. PMID: 32198505
WHAT IS KNOWN ALREADY: Genome-wide haplotyping of preimplantation embryos is being implemented as a generic approach for genetic diagnosis of inherited single-gene disorders. To enable the phasing of genotypes into haplotypes, genotyping the direct family …
WHAT IS KNOWN ALREADY: Genome-wide haplotyping of preimplantation embryos is being implemented as a generic approach for genetic d …
103 results