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  1. Article ; Online: Using a chat-based informed consent tool in large-scale genomic research.

    Savage, Sarah K / LoTempio, Jonathan / Smith, Erica D / Andrew, E Hallie / Mas, Gloria / Kahn-Kirby, Amanda H / Délot, Emmanuèle / Cohen, Andrea J / Pitsava, Georgia / Nussbaum, Robert / Fusaro, Vincent A / Berger, Seth / Vilain, Eric

    Journal of the American Medical Informatics Association : JAMIA

    2023  Volume 31, Issue 2, Page(s) 472–478

    Abstract: Objective: We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study.: Materials and methods: We created an Institutional Review Board-approved script for automated chat-based ... ...

    Abstract Objective: We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study.
    Materials and methods: We created an Institutional Review Board-approved script for automated chat-based consent. We compared data from prospective participants who used the tool or had traditional consent conversations with study staff.
    Results: Chat-based consent, completed on a user's schedule, was shorter than the traditional conversation. This did not lead to a significant change in affirmative consents. Within affirmative consents and declines, more prospective participants completed the chat-based process. A quiz to assess chat-based consent user understanding had a high pass rate with no reported negative experiences.
    Conclusion: Our report shows that a structured script can convey important information while realizing the benefits of automation and burden shifting. Analysis suggests that it may be advantageous to use chatbots to scale this rate-limiting step in large research projects.
    MeSH term(s) Humans ; Prospective Studies ; Informed Consent ; Genomics ; Software ; Communication
    Language English
    Publishing date 2023-09-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 1205156-1
    ISSN 1527-974X ; 1067-5027
    ISSN (online) 1527-974X
    ISSN 1067-5027
    DOI 10.1093/jamia/ocad181
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: "Development and Implementation of Novel Chatbot-based Genomic Research Consent".

    Smith, Erica D / Savage, Sarah K / Andrew, E Hallie / Martin, Gloria Mas / Kahn-Kirby, Amanda H / LoTempio, Jonathan / Délot, Emmanuèle / Cohen, Andrea J / Pitsava, Georgia / Berger, Seth / Fusaro, Vincent A / Vilain, Eric

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Objective: To conduct a retrospective analysis comparing traditional human-based consenting to an automated chat-based consenting process.: Materials and methods: We developed a new chat-based consent using our IRB-approved consent forms. We ... ...

    Abstract Objective: To conduct a retrospective analysis comparing traditional human-based consenting to an automated chat-based consenting process.
    Materials and methods: We developed a new chat-based consent using our IRB-approved consent forms. We leveraged a previously developed platform (Gia
    Results: Engagement rates were similar between both consenting methods. The median length of the consent conversation was shorter for Gia users compared to traditional (44 vs. 76 minutes). Additionally, the total time from referral to consent completion was faster with Gia (5 vs. 16 days). Within Gia, understanding was assessed with a 10-question quiz that most participants (96%) passed. Feedback about the chat consent indicated that 86% of participants had a positive experience.
    Discussion: Using Gia resulted in time savings for both the participant and study staff. The chatbot enables studies to reach more potential candidates. We identified five key features related to human-centered design for developing a consent chat.
    Conclusion: This analysis suggests that it is feasible to use an automated chatbot to scale obtaining informed consent for a genomics research study. We further identify a number of advantages when using a chatbot.
    Language English
    Publishing date 2023-01-24
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.23.525221
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

    Guillen Sacoto, Maria J / Tchasovnikarova, Iva A / Torti, Erin / Forster, Cara / Andrew, E Hallie / Anselm, Irina / Baranano, Kristin W / Briere, Lauren C / Cohen, Julie S / Craigen, William J / Cytrynbaum, Cheryl / Ekhilevitch, Nina / Elrick, Matthew J / Fatemi, Ali / Fraser, Jamie L / Gallagher, Renata C / Guerin, Andrea / Haynes, Devon / High, Frances A /
    Inglese, Cara N / Kiss, Courtney / Koenig, Mary Kay / Krier, Joel / Lindstrom, Kristin / Marble, Michael / Meddaugh, Hannah / Moran, Ellen S / Morel, Chantal F / Mu, Weiyi / Muller, Eric A / Nance, Jessica / Natowicz, Marvin R / Numis, Adam L / Ostrem, Bridget / Pappas, John / Stafstrom, Carl E / Streff, Haley / Sweetser, David A / Szybowska, Marta / Walker, Melissa A / Wang, Wei / Weiss, Karin / Weksberg, Rosanna / Wheeler, Patricia G / Yoon, Grace / Kingston, Robert E / Juusola, Jane

    American journal of human genetics

    2020  Volume 107, Issue 2, Page(s) 352–363

    Abstract: MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal ... ...

    Abstract MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal muscular atrophy, and the onset of symptoms ranges from infancy to the second decade of life. Here, we present a cohort of 20 individuals referred for exome sequencing who harbor pathogenic variants in the ATPase module of MORC2. Individuals presented with a similar phenotype consisting of developmental delay, intellectual disability, growth retardation, microcephaly, and variable craniofacial dysmorphism. Weakness, hyporeflexia, and electrophysiologic abnormalities suggestive of neuropathy were frequently observed but were not the predominant feature. Five of 18 individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome, and five of six individuals who had dilated eye exams had retinal pigmentary abnormalities. Functional assays revealed that these MORC2 variants result in hyperactivation of epigenetic silencing by the HUSH complex, supporting their pathogenicity. The described set of morphological, growth, developmental, and neurological findings and medical concerns expands the spectrum of genetic disorders resulting from pathogenic variants in MORC2.
    MeSH term(s) Adenosine Triphosphatases/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Craniofacial Abnormalities/genetics ; Female ; Genetic Diseases, Inborn/genetics ; Growth Disorders/genetics ; Heterozygote ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Microcephaly/genetics ; Middle Aged ; Mutation/genetics ; Neurodevelopmental Disorders/genetics ; Phenotype ; Transcription Factors/genetics ; Young Adult
    Chemical Substances MORC2 protein, human ; Transcription Factors ; Adenosine Triphosphatases (EC 3.6.1.-)
    Language English
    Publishing date 2020-07-20
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2020.06.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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