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  • Upcoming
    Contains 1 Component(s) Includes a Live Web Event on 07/10/2024 at 12:00 PM (EDT)

    Dr. Appelbaum will discuss findings from a series of focus groups with patients, clinicians, and IRB members on return of polygenic risk scores in research. Despite strong interest in such results, they found multiple barriers to their effective use to improve health.

    Dr. Appelbaum will discuss findings from a series of focus groups with patients, clinicians, and IRB members on return of polygenic risk scores in research. Despite strong interest in such results, they found multiple barriers to their effective use to improve health. 

    Overview of Presentation

    • We conducted online focus groups, as part of the eMERGE-IV study, with patients/community members, clinicians, and IRB members to explore their views on return of polygenic risk scores (PRS) for common disorders.
    • Across stakeholder groups, there was strong interest in having PRS results returned to research participants.
    • However, there were significant differences in stakeholders’ views about resources needed for PRS data to translate into improved participant health. 
    • Issues identified included researcher-participant communication, health and genomic literacy, and a range of structural barriers such as financial instability, insurance coverage, and the absence of health-supporting infrastructure in poorer neighborhoods. The promotion of equity in genomic research and clinical applications will require measures to facilitate effective use of PRS and other genomic data in the real world.

    Paul S. Appelbaum, MD

    Dollard Professor of Psychiatry, Medicine & Law

    Columbia University

    Paul S. Appelbaum, M.D. is the Elizabeth K. Dollard Professor of Psychiatry, Medicine, and Law, and Director, Center for Law, Ethics, and Psychiatry, Department of Psychiatry, Vagelos College of Physicians and Surgeons, Columbia University. For 13 years, he directed Columbia’s HNGRI-funded Center of Excellence in ELSI Research. His recent research has focused on the ethical and psychosocial impact of advances in genetics. Dr. Appelbaum is a Past President of the American Psychiatric Association and the American Academy of Psychiatry and the Law, now chairs the APA’s DSM Steering Committee, and is a member (and former chair) of the Standing Committee on Ethics of the World Psychiatric Association. He has been elected to the National Academy of Medicine. Dr. Appelbaum is a graduate of Columbia College, received his M.D. from Harvard Medical School, and completed his psychiatry residency at the Massachusetts Mental Health Center/Harvard Medical School.

    Jessica Chong, PhD (Moderator)

    Deputy Editor

    HGG Advances

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  • Upcoming
    Contains 1 Component(s) Includes a Live Web Event on 05/08/2024 at 12:00 PM (EDT)

    Dr. Tianyu Zhang from Carnegie Mellon University will discuss a new polygenic score framework and how it may benefit underrepresented populations..

    Dr. Tianyu Zhang from Carnegie Mellon University will discuss a new polygenic score framework and how it may benefit underrepresented populations.

     
    Overview of Presentation

    • Genetic scores of individuals can be used to predict their traits, such as eventual disease status.

    • These polygenic scores work best in the ancestry from which they were developed. Lack of portability across ancestries violates fairness principles and could generate clinical harm.

    • We propose a computationally efficient method---Joint Lassosum---to improve the portability.

    • A systematic simulation study is presented to answer when and how much the proposed framework would improve the score prediction accuracy for underrepresented ancestry groups. 

    Tianyu Zhang, PhD

    Postdoctoral Researcher, Department of Statistics & Data Science

    Carnegie Mellon University

    Dr. Tianyu Zhang is a postdoctoral researcher at Carnegie Mellon University (CMU), Department of Statistics & Data Science. He obtained his undergraduate degree, double-majored in Biology and Mathematics, from Peking University, and Doctor of Philosophy degree in Biostatistics from University of Washington. As a statistician with scientific training, his methodological research strives to achieve both statistical validity and real-world feasibility. His work has been published in high-impact journals across many fields including statistics, medicine and computational biology. Currently, Dr. Zhang works closely with Dr. Kathryn Roeder at CMU on developing novel inferential methods that can be applied to high-dimensional problems including genetic and single-cell data analysis. 

    Bernie Devlin, PhD

    Professor of Psychiatry

    University of Pittsburgh School of Medicine

    Bernie Devlin is a Professor of Psychiatry and Clinical and Translational Science at the University of Pittsburgh School of Medicine. His research has three major foci: the development or refinement of statistical methods for the analysis of genetic data; the implementation of such methods to discover the genetic basis of disease and related phenotypes; and placing these findings in neurobiology. Much of his empirical work characterizes the genetic basis and neurobiology of autism spectrum disorder and schizophrenia. In 2009 he was inducted as a Fellow of the Statistics Section of the American Association for the Advancement of Science (AAAS) for contributions to modeling genetic data. 

    Mike Bamshad, MD (Moderator)

    Editor-in-Chief of HGG Advances

    Chief of the Genetic Medicine Division of the Department of Pediatrics at Seattle Children’s Hospital, University of Washington (UW), Director of the Center for Clinical Genomics, Principal investigator the UW Center for Mendelian Genomics

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  • Contains 2 Component(s)

    Season 3, Voices in Genomics, with Luciani Renata Silveira de Carvalho, MD, PhD.

    In the first half of the interview, host Eli Roberson, PhD interviews Luciani Carvalho, MD, PhD, an associated professor at the University of São Paulo. Dr. Carvalho shares her journey into science and medicine, focusing on her work with patients suffering from growth hormone deficiency. You’ll hear how her experiences shaped her professional life, including challenges she faced during her studies and how those experiences shaped her own mentorship in the lab.

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  • Contains 4 Product(s)

    Season Three of Genetically Speaking

    This new season of Genetically Speaking explores perspectives and stories of genetic and genomic professionals who are balancing career work along with advocacy, allyship, or activism work around equity, justice, diversity, inclusion and more. The episodes feature in-depth interviews with individuals about their careers in science and research, as well as delving into their personal journeys, inspirations, and more.

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  • Contains 1 Component(s)

    Lindsay Romo, medical biochemical genetics fellow, will present on incorporating functional datasets to improve interpretation of 3'UTR variants, as well as a new software tool, RegVar, aimed at characterizing variants by their putative regulatory elements.

    Lindsay Romo, medical biochemical genetics fellow, will present on incorporating functional datasets to improve interpretation of 3'UTR variants, as well as a new software tool, RegVar, aimed at characterizing variants by their putative regulatory elements.

    Overview of Presentation

    • Most variants in ClinVar are of uncertain significance; this is especially true for 3'UTR variants.
    • Many functional datasets exist that characterize 3'UTR variants and/or regulatory elements including genome wide association studies, expression quantitative trait loci, RNA binding protein immunoprecipitation studies, and microRNA target predictions.
    • These datasets can be leveraged to identify functional 3'UTR variants that impact gene expression or phenotype.
    • Incorporation of regulatory features into a generalized linear model enables characterization of any 3'UTR variant by its potential functional elements as well as the likelihood the variant affects expression or phenotype.
    • We provide RegVar, a software tool that provides regulatory information for any 3'UTR variant and may be used to prioritize patient variants for experimental studies and improve clinical variant interpretation

    Missed the webinar? Here's a preview:


    ASHG Members get access to our recorded webinars for free! Log in to watch the rest of the webinar.

    Lindsay Romo, MD, PhD

    Medical Biochemical Genetics fellow

    Boston Children's Hospital/Harvard Medical School Genetics Training Program; Visiting Postdoctoral Researcher at the MIT Burge Lab

    Dr. Lindsay Romo is a medical biochemical genetics fellow in the Harvard Medical School Genetics Training Program at Boston Children’s Hospital and a visiting postdoctoral fellow in the Burge Lab at MIT. She obtained her undergraduate training from MIT and her Doctor of Medicine and Doctor of Philosophy degrees from the University of Massachusetts. Following that, she completed pediatrics residency at Boston Children’s Hospital. For the past several years, her research has focused on characterization of noncoding variants. She has received awards and honors for her research, including a Frederick Lovejoy award from Boston Children’s Hospital and a top abstract award from the ACMG. 

    Chris Burge, PhD

    Professor of Biology

    MIT

    Dr. Burge completed BS and PhD degrees at Stanford, where he developed the GENSCAN gene prediction algorithm that was used in the annotation of genes in the human genome, and did postdoctoral work on the evolution of splicing in the Sharp lab at MIT. He is currently Professor of Biology at MIT and Co-Director of MIT’s Computational and Systems Biology PhD Program.  His lab studies post-transcriptional gene regulation using computational and experimental approaches. 

    Kylee Spencer, PhD (Moderator)

    Assistant Editor

    American Journal of Human Genetics

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  • Contains 1 Component(s)

    Season 3, Voices in Genomics, with Claudia Gonzaga-Jauregui, PhD.

    In this episode, host Eli Roberson, PhD interviews Claudia Gonzaga-Jauregui, PhD, an assistant professor at the International Laboratory for Human Genome Research of UNAM, Mexico. Claudia shares insights into her career journey, the pivotal moments that shaped her interest in genomics, and her dedication to promoting genomic equity. The conversation delves into Claudia's experiences in academia, industry, and the transition from industry back to research and mentoring. She emphasizes the importance of diversity and inclusion in genomics research and discusses her efforts to bring genomic newborn screening to the region and the barriers and opportunities in implementing these programs.

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  • Contains 1 Component(s)

    Season 3, Voices in Genomics, with Katrina Claw, PhD.

    In this episode, host Eli Roberson, PhD interviews Katrina Claw, PhD, an assistant professor at the University of Colorado Anschutz Medical Campus. Dr. Claw shares her career, focused on research in genomics and pharmacogenomics, with an emphasis on underrepresented populations. She also delves into her community-based research approach and addresses the cultural, ethical, legal, and social aspects of genomic research. The episode explores Dr. Claw’s involvement in initiatives like the Summer Internship for Indigenous Peoples in Genomics Consortium and the PRIME program, which aims to mentor early-career indigenous faculty.

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  • Contains 2 Component(s)

    Season 3, Voices in Genomics, with Jey McCreight, PhD.

    In the first half of the interview, host Eli Roberson, PhD interviews Jey McCreight, PhD, a science communicator with expertise in genomics. Dr. McCreight shares his journey from grad school to his current role at Verily, emphasizing a shift from research to a passion for communicating science. The conversation covers regrets and successes in his career, the importance of following one's passions, and the intersection of diversity, equity, and inclusion (DEI) with science.

    In the second half of the interview, they discuss topics related to balancing personal and professional life, navigating passion projects without burnout, and the challenges faced by individuals in the DEI (Diversity, Equity, and Inclusion) field. The conversation also delves into the complexities of sustaining DEI efforts in organizations, addressing setbacks, and more.

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  • Contains 1 Component(s)

    Sandra Soo-Jin Lee will discuss an empirical study of the use of population descriptors in precision medicine research and decision points in which investigators substitute and combine race and/or ethnicity and genetic ancestry.

    Sandra Soo-Jin Lee will discuss an empirical study of the use of population descriptors in precision medicine research and decision points in which investigators substitute and combine race and/or ethnicity and genetic ancestry. 

    Overview of Presentation:

    • The recent NASEM Report on the use of populations descriptors in genomics research recommends against use of race and ethnicity when indicating genetic ancestry.
    • Drawing on qualitative data on five PMR projects, we identify multiple points across the research life course at which conceptual slippage and conflation between race and genetic ancestry occur.
    • We illustrate points of negotiations within and between research teams as investigators deliberate on the relevance of race and genetic ancestry for different analyses and contexts.
    • We argue that moving beyond race will require confronting the entrenched ways in which race is built into research practices and biomedical infrastructures.




      Sandra Soo-Jin Lee, PhD

      Professor of Medical Humanities & Ethics and Chief of the Division of Ethics

      Columbia University

      Sandra Soo-Jin Lee, PhD, is Professor of Medical Humanities and Ethics and Chief of the Division of Ethics at Columbia University. She received her undergraduate degree in Human Biology from Stanford University and her doctorate in Medical Anthropology from the joint UC Berkeley/UCSF program. Dr. Lee’s research focuses on the ethical and social dimensions of emerging biotechnologies, including the use of race, ethnicity and ancestry in genomics, precision medicine and AI applications in healthcare.  She is Co-Director of the NHGRI funded Center for ELSI Resources and Analysis (CERA) and is President of the Association of Bioethics Program Directors. She serves on the editorial boards of the American Journal of Bioethics and Narrative Inquiry in Bioethics and is a member of the US Health and Human Services Secretary’s Advisory Committee on Human Research Protections. 

      Mike Bamshad, MD (Moderator)

      Editor-in-Chief of HGG Advances

      Chief of the Genetic Medicine Division of the Department of Pediatrics at Seattle Children’s Hospital, University of Washington (UW), Director of the Center for Clinical Genomics, Principal investigator the UW Center for Mendelian Genomics

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    • Contains 3 Product(s)

      This series of three educational webinars will highlight scientific and ethical, legal and social implications (ELSI) perspectives on why the appropriate and responsible use of population descriptors matters in genomics research.

      This series of three educational webinars will highlight scientific and ethical, legal and social implications (ELSI) perspectives on why the appropriate and responsible use of population descriptors matters in genomics research. Panelists will provide their unique perspectives and guide group discussion using case studies as examples. 

      **Please read through the reading materials in advance of this interactive webinar series.

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