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Contains 1 Component(s) Includes a Live Web Event on 10/16/2024 at 12:00 PM (EDT)
This workshop is for those passionate about human genetics who want to meaningfully impact the field through advocacy. You will gain foundational and practical skills to become an advocate, building on ASHG's ongoing efforts and highlighting available advocacy tools to the broader research community. This session is your invitation to step into the world of advocacy, armed with newfound knowledge and practical skills. Don't miss the chance to unlock your advocacy potential. No prior advocacy experience required!
This workshop is for those passionate about human genetics who want to meaningfully impact the field through advocacy. You will gain foundational and practical skills to become an advocate, building on ASHG's ongoing efforts and highlighting available advocacy tools to the broader research community. This session is your invitation to step into the world of advocacy, armed with newfound knowledge and practical skills. Don't miss the chance to unlock your advocacy potential. No prior advocacy experience required!
Participants can expect to cover the following topics:
- Demystifying Advocacy: Explore why advocacy matters and how it can be a powerful tool for shaping responsible and equitable practices in human genetics.
- Skills for Everyday Advocacy: This session is not just about theories, it is about practical skills you can apply in your daily work life. Walk away equipped with tools to effortlessly integrate advocacy into routines, highlighting the work already being done by ASHG.
- Hands-On Learning: Engage in interactive activities and discussions that make advocacy relatable and applicable to your career. Discover how easy it is to be an advocate in your community, workplace, or on Capitol Hill.
- Be the Change: Leave the workshop not just informed but inspired to be an advocate for responsible and inclusive practices in human genetics. Your voice has the potential to make a meaningful impact!
Learning Objectives:
- Summarize and identify context for policy issues affecting human genetics with ASHG Fact Sheets and Statements
- Formulate ways to be an ASHG advocate, contacting representatives and understanding bill language
- Examine communication strategies/practical tips in discussing human genetics
- Identify ASHG advocacy networks and professional development opportunities (i.e. ASHG Advocate Update, Advocacy Certificate Program for Trainees, Policy Fellowships)
Anna Capria, MS
Outreach Coordinator and Bioinformatic Analyst 2
J. Craig Venter Institute
Anna Capria is an Outreach Coordinator and Bioinformatics Analyst at the J. Craig Venter Institute, where she works on the NIAID-funded BV-BRC project. Her work is centered on making viral bioinformatics and genomics open and accessible to the broader scientific community. Anna holds a Bachelor’s in Biomedical Science from the Rochester Institute of Technology and an MS in Human Genetics and Genomic Data Analytics from Keck Graduate Institute. Anna volunteers at Rare Science in her free time, where she plays a key role in supporting the rare disease community from an outreach perspective. She has led efforts in patient group organization, social media strategy, advocacy, and the gifting of Rare Bears to patient organizations and families, bringing joy and support to those affected by rare diseases. She is also an active member of the San Diego Women in Bio Chapter, co-chairing the MAPS program. Driven by her deep interest in human genetics and rare diseases, Anna is passionate about advocating for research funding and empowering others in their advocacy journey. Her commitment to improving the lives of those around her is a constant source of motivation in her work.
Grace Tietz, BS
PhD Candidate
Baylor College of Medicine
Grace Tietz is a PhD candidate in Genetics at Baylor College of Medicine and an alumna of the ASHG Advocacy Certificate Program. Prior to starting her PhD, she worked at NIAID where she facilitated data sharing activities in the context of COVID-19 and obtained her B.S. at the University of Maryland College Park. Her current research aims to improve transferability of genetic testing across ancestries using population genetics approaches. Her policy interests are centered around the importance of improving diversity in genetics, both in the workforce, and in the cohorts that are studied. She additionally has interests in data diplomacy, sharing, and governance in genetics.
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- Regular Member - $40
- Early Career Member - $20
- Resident/Clinical Fellow Member - $20
- Postdoctoral Fellow Member - $20
- Graduate Student Member - $20
- Undergraduate Student Member - $20
- Emeritus Member - $20
- Life Member - $40
- Trainee Member - $20
- Nonmember - $55
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Contains 1 Component(s) Includes a Live Web Event on 10/02/2024 at 12:00 PM (EDT)
This workshop will use the ACMG/AMP standards and guidelines for germline SNV interpretation as a case study for developing classroom activities that engage learners, develop variant analysis skills, and build confidence in the curation process for students. Throughout the workshop, participants will gain hands-on experience designing instructional activities for clinical genetics concepts, assessing the effectiveness of the activities, and constructing an instructional scaffold to guide learners to mastery of the curation process. Participants will also discuss the benefits of teaching in a team-based, active modality.
Single nucleotide variant (SNV) curation is an important skill to develop for students in genetic counseling, genomics, and bioinformatics master’s programs. It is also a common subject for continuing education workshops for professionals working in clinical genetics roles. While the number of evidence categories and scoring criteria can be intimidating for new learners, the process lends itself well to team-based, active learning approaches in the classroom. This workshop will use the ACMG/AMP standards and guidelines for germline SNV interpretation as a case study for developing classroom activities that engage learners, develop variant analysis skills, and build confidence in the curation process for students. Throughout the workshop, participants will gain hands-on experience designing instructional activities for clinical genetics concepts, assessing the effectiveness of the activities, and constructing an instructional scaffold to guide learners to mastery of the curation process. Participants will also discuss the benefits of teaching in a team-based, active modality. While the workshop will focus on in-person educational formats, there will also be discussion of how to adapt the same activities to synchronous, online delivery and self-paced, solo learners.
Learning Objectives
- Design team-based, active learning activities for teaching genetics concepts
- Assess the effectiveness of active learning activities
- Plan an educational approach to develop students' skills in SNV interpretation
- Describe the benefits of team-based learning approaches for students
Barbara Kraatz Fortini, PhD
Keck Graduate Institute
Barbara Kraatz Fortini, Associate Professor of Genetics is currently Director of the Center for Training in Applied Genomics at KGI, and serves as the Program Director for >span class="NormalTextRun SCXW63644289 BCX0" data-ccp-parastyle="Normal (Web)"> Master of Science in Human Genetics and Genomic Data Analytics (MSGDA), an execute-education Certificate in Applied Genomics (CAG), and the Clinical Genetics and Bioinformatics (CGB) summer program for undergraduates. Within the KGI curriculum, Fortini teaches courses in Human Molecular Genetics, Human Genomics, and Functional Genomics. Fortini’s research is focused on how non-coding genomic variation affects colorectal cancer risk, using both bioinformatics and cell-based assays to understand the consequences of variants associated with colon cancer. Fortini completed her postdoctoral training at the Keck School of Medicine of USC in the Department of Preventive Medicine at the USC Norris Comprehensive Cancer Center. She received her BS in 2002 and her PhD in 2011 at the California Institute of Technology.
Emily Quinn, MS, CGC
Associate Professor
Keck Graduate Institute
Emily Quinn, MS, CGC is an Associate Professor and the Program Director for the Master of Science in Human Genetics and Genetic Counseling program at Keck Graduate Institute (KGI). Emily received her bachelor degrees in Biology and Psychology from the University of California Santa Cruz and her master degree in Genetic Counseling from the Icahn School of Medicine at Mount Sinai. Emily’s clinical background is in pediatric cancer predisposition and her academic research interests are in the topics of diversity, equity and inclusion, admissions processes, and educational effectiveness.
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- Regular Member - $40
- Early Career Member - $20
- Resident/Clinical Fellow Member - $20
- Postdoctoral Fellow Member - $20
- Graduate Student Member - $20
- Undergraduate Student Member - $20
- Emeritus Member - $20
- Life Member - $40
- Trainee Member - $20
- Nonmember - $55
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Contains 1 Component(s) Includes a Live Web Event on 09/25/2024 at 1:00 PM (EDT)
This webinar will introduce advocacy framed around U.S. policy-making, ASHG’s role in the biomedical research advocacy community, and why it is essential for scientists to take action.
Congress is charged with making decisions about funding science and agencies like the National Institutes of Health; however, it is impossible for Congress to be fully informed about the many facets of research funded by the federal government. ASHG members are in a unique position as subject matter experts to directly convey the benefits of human genetics and genomics research to policymakers. Advocacy is essential to raise awareness about the importance of federal science funding, its economic impact and translation into health advances, and the importance and benefits of human genetics research in dispelling misconceptions and improving health for all. This webinar will introduce advocacy framed around U.S. policy-making, ASHG’s role in the biomedical research advocacy community, and why it is essential for scientists to take action.
Overview of Presentation
- Understand how advocacy helps to explain the benefits of human genetics and genomics research to policymakers.
- Learn how organizations like ASHG and their member volunteers influence biomedical research and policy.
- Recognize the importance of scientists advocating for evidence-based decision making, robust research funding, and policies that advance biomedical science and the appropriate application of genetics in health and society.
Jon Judd
PhD Candidate
Stanford University
Jon Judd is a Genetics PhD candidate at Stanford University in the labs of Jonathan Pritchard and John Witte, researching the genetic and social causes of complex diseases. He obtained his undergraduate degree in Chemical and Biomolecular Engineering from Johns Hopkins University. Throughout his training, Jon has been a keen advocate at the local and federal levels. Beyond being a member of ASHG’s Government & Public Advocacy Committee, Jon staffed the Presidents’ Council of Advisors on Science and Technology at the White House and was a research assistant for the Association of Science and Technology Centers. At the grassroots level, Jon is a co-chair of the Stanford Genetics Advocacy Committee, president of the Stanford Science Policy Group, and assisted in organizing Stanford BioJam, a community-led camp devoted to the education of teenagers underrepresented in STEM.
Yvette Seger, PhD
Director of Strategic Scientific Program Advancement; Director of Science Policy; Deputy Director of the Office of Public Affairs
Federation of American Societies for Experimental Biology
Yvette Seger, PhD, is the Director of Strategic Scientific Program Advancement, Director of Science Policy, and Deputy Director of the Office of Public Affairs for the Federation of American Societies for Experimental Biology (FASEB), a coalition of 22 scientific societies collectively representing over 110,000 individual biological and biomedical researchers. In these roles she leads the Federation's strategic investments in diversity, equity, accessibility, and inclusion and data sharing and reuse while also contributing to overall strategic vision for FASEB’s science policy initiatives. Dr. Seger launched her policy career at the National Academies as a Christine Mirzayan Science & Technology Policy Fellow where she worked on a report examining processes for identifying and appointing scientists to key federal advisory positions. After leaving the Academies, Dr. Seger held senior policy analyst positions at the research advocacy group FasterCures, the National Institutes of Health Office of Science Policy, and Thomson Reuters before joining FASEB in 2013. Dr. Seger holds a PhD in Genetics from Stony Brook University and received a BA in Zoology (Genetics Concentration) and Politics & Government from Ohio Wesleyan University.
Jennifer Zeitzer
Deputy Executive Director; Director, Office of Public Affairs
Federation of American Societies for Experimental Biology
Jennifer Zeitzer was named Director of the FASEB Office of Public Affairs (OPA) in June 2018 and assumed the dual role of Deputy Executive Director in June 2022. She works with a team of policy analysts, legislative affairs specialists, and the elected leadership of the Federation and its member societies to develop and promote policies to advance biomedical research. Prior to her current role, Jennifer served as the Director of Legislative Relations/ Deputy Director of OPA. In that role, she represented FASEB on Capitol Hill, managed FASEB’s communications with the U.S. Congress, and developed legislative strategies related to funding for the National Institutes of Health and other federal science agencies. She also coordinated FASEB’s advocacy efforts with coalition partners in the biomedical and scientific research community. Previously, Jennifer was the Director of Congressional Relations at the Alzheimer’s Association. She has a bachelor’s degree in Political Science from the Pennsylvania State University.
Anthony Wynshaw-Boris, MD, PhD (Moderator)
The James H. Jewell MD (Med ’34) Professor of Genetics
Case Western Reserve University School of Medicine and University Hospitals
Tony Wynshaw-Boris received his MD, PhD degrees from Case Western Reserve University School of Medicine. In 1994, Dr. Wynshaw-Boris set up an independent laboratory at NHGRI, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to UCSD School of Medicine, where he became Professor of Pediatrics and Medicine, as well as Chief of the Division of Medical Genetics in the Department of Pediatrics. In 2007, he moved to UCSF School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics, and the Chief of the Division of Medical Genetics in the Department of Pediatrics. At UCSF, in addition to mouse models, his laboratory began to use patient-derived induced pluripotent stem cell (iPSC) models to study human disease. He returned to Cleveland in 2013 to become the Chair of the Department of Genetics and Genome Sciences, and is now the James H. Jewell MD (Med ’34) Professor of Genetics. His laboratory continues to use mouse and iPSC models to shed light on mechanisms of neurogenetic diseases with the ultimate goal of providing novel therapies.
Dr. Wynshaw-Boris was President of the American Society for Human Genetics for 2020 and is currently Chair of the Government and Public Advocacy Committee (GPAC). He was appointed to the National Advisory Child Health and Human Development Council of the Eunice Kennedy Shriver National Institute of Child Health & Human Development, NIH, in 2019. He has also been elected to membership in the American Society for Clinical Investigation, the Association of American Physicians, the American Pediatric Society, and he was elected as Fellow of the American Association for the Advancement of Science.
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Contains 1 Component(s) Includes a Live Web Event on 09/17/2024 at 12:00 PM (EDT)
In this webinar, Paul W. Hook, PhD, former leader of the Bioinformatics SIG, provides insight into his current work using cleavage under targets and release using nuclease (CUT&RUN) to measure protein-DNA binding with nanopore sequencing. Dr. Hook will introduce CUT&RUN, detail computational analysis while highlighting software used, present results, and explain how this method may be used in the future. A time for Q&A will follow the presentation.
Join members of the Bioinformatics & Computational Approaches SIG for this SIG seminar. In this webinar, Paul W. Hook, PhD, former leader of the Bioinformatics SIG, provides insight into his current work using cleavage under targets and release using nuclease (CUT&RUN) to measure protein-DNA binding with nanopore sequencing. Dr. Hook will introduce CUT&RUN, detail computational analysis while highlighting software used, present results, and explain how this method may be used in the future. A time for Q&A will follow the presentation.
The focus of the Bioinformatics & Computational Methods SIG is on computational approaches for analyzing and interpreting genetics and genomics data. Topics include statistical genetics methods, polygenic risk scores, GWAS, RNA-seq, ATAC-seq, and much more.Overview of Presentation
- Introduce CUT&RUN and outline a typical CUT&RUN analysis pipeline
- Highlight how typical CUT&RUN analysis was adapted to CUT&RUN performed with nanopore sequencing
- Emphasize potential future uses of this method
Paul W. Hook, PhD
Postdoctoral Fellow
Johns Hopkins University
Dr. Paul W. Hook received his Bachelor of Science degree in Biochemistry and Molecular Biology from the Pennsylvania State University in 2012. He went on to earn his PhD in Human Genetics from Johns Hopkins University School of Medicine in 2020, where his thesis work focused on pinpointing the genes and variants underlying genome-wide association signals through the use of genomic data from disease-relevant cell populations. Dr. Hook joined Winston Timp’s lab as a postdoctoral fellow in the Department of Biomedical Engineering at Johns Hopkins University in the summer of 2020. In this role, his work has focused on the development and application of new approaches for measuring different aspects of epigenetics by using long-read sequencing, including chromatin state, DNA methylation, and protein-DNA binding.
Minna Kaikkonen-Määttä, PhD (Moderator)
Professor at A.I.Virtanen Institute
University of Eastern Finland
Minna Kaikkonen-Määttä obtained her Bachelor's degree in Cellular Biology and Physiology from the Claude Bernard University Lyon 1, France, in 2002 and Master’s degree in Molecular Biology from University of Jyväskylä, Finland, in 2005. She obtained her PhD in Molecular Medicine under the supervision of Prof. Seppo Ylä-Herttuala in Kuopio in 2008. Her doctoral studies were focused on “Engineering Baculo- and Lentiviral Vectors for Enhanced and Targeted Gene Delivery”. She did her postdoctoral studies with Prof. Christopher Glass at University of California San Diego where she shifted her research focus into transcriptional gene regulation and enhancer RNAs supported by the Young Investigator Award from Leducq Foundation. She started her own lab in 2015 at the University of Eastern Finland with a focus on gene and cell level understanding of atherosclerosis using state-of-the-art next generation sequencing methods. Currently she is a Professor in Cardiovascular Genomics and runs a lab of 20 members while acting as a Director of the A.I.Virtanen Research Institute and Single Cell Genomics Core. She has published over 100 peer-reviewed articles with ~6000 citations (H-index 34). She has received over 8.5 million in research funding and is currently supported by the prestigious European Research Council Consolidator Grant, Academy of Finland, Finnish Foundation for Cardiovascular Research and Sigrid Juselius Foundation. She is the President of the Finnish Society of Atherosclerosis and member of the ESC working group on Atherosclerosis and Vascular Biology, Scandinavian Society of Atherosclerosis, and Membership Engagement Committee of the American Society of Human Genetics.
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- Undergraduate Student Member - Free!
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- Life Member - Free!
- Trainee Member - Free!
- Nonmember - Free!
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Contains 1 Component(s) Includes a Live Web Event on 09/11/2024 at 12:00 PM (EDT)
Erin Thorpe will present findings from an observational, retrospective analysis of 1,004 underserved individuals from 8 countries with suspected rare genetic disease who received clinical genome sequencing (cGS) through the iHope program, a philanthropic testing access program.
Erin Thorpe will present findings from an observational, retrospective analysis of 1,004 underserved individuals from 8 countries with suspected rare genetic disease who received clinical genome sequencing (cGS) through the iHope program, a philanthropic testing access program.
Overview of Presentation
- The diagnostic yield of cGS was 41.4% across the cohort. Individuals from sites in low- and middle-income countries (LMIC) had a higher diagnostic yield compared to those from sites in high-income countries (HIC).
- cGS impacted the clinician’s diagnostic evaluation (DE) for 76.9% of individuals, with a higher rate in LMIC sites (87.4%) compared to HIC sites (70.1%). Positive test results led to a substantial increase in DE (64.2 times more likely), showing the impact of accurate diagnoses on clinical practices.
- cGS resulted in a change of management (COM) for 41.1% of individuals, including new specialty referrals, imaging, therapeutic interventions, and palliative care. The COM increased to 69.2% when genetic counseling and avoidance of additional testing we also considered.
- Individuals from LMIC sites were as likely as their HIC counterparts to experience a change in diagnostic evaluation and change of management, suggesting that increased access to genomic testing may support diagnostic equity and the reduction of global health care disparities.
Erin Thorpe Venti, MS, CGC
Director of Clinical Programs
Genetic Alliance
Erin Thorpe Venti is a board-certified genetic counselor with more than a decade of experience in clinical patient care, research, and genetic testing. For the past nine years, Erin has specialized in clinical whole genome sequencing for rare and undiagnosed genetic conditions, with expertise in variant interpretation, case analysis, clinical reporting, test development, reanalysis workflows, data analysis, provider education, and program management. She currently serves as the Director of Clinical Programs at Genetic Alliance, a nonprofit health advocacy organization dedicated to advancing health through genetics. In this role, Erin oversees the management and operations of iHope Genetic Health, an initiative focused on providing access to complex genetic testing for underserved children in low-to-middle-income countries.
Alyson Barnes, PhD (Moderator)
Assistant Editor
American Journal of Human Genetics
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This webinar introduces innovative methods for integrating hands-on genomics into high school and college curricula, demonstrating how affordable DNA sequencing can facilitate equitable STEM access and data literacy.
This webinar introduces innovative methods for integrating hands-on genomics into high school and college curricula, demonstrating how affordable DNA sequencing can facilitate equitable STEM access and data literacy. Educators are increasingly able to access low-cost sequencing technologies, supported by freely available bioinformatics tools. This offers students the chance to work with the same data and tools as cutting-edge researchers. We will provide practical tips and strategies for hands-on genomics education, including teaching techniques and recommendations for free or low-cost equipment, reagents, and digital tools. The webinar will feature resources developed through collaboration among three Minority Serving Institutions (MSIs): New York City College of Technology, Spelman College, and the University of Puerto Rico-Río Piedras, along with the Cold Spring Harbor Laboratory DNA Learning Center.
We will also hear from diverse individuals and faculty-led genomics education networks, and industry as they devise methods to make genomics education accessible and inclusive. We will also highlight ethical and culturally relevant teaching approaches for responsible engagement with genomics research. Ultimately, making a wide range of genomics experiences available in any classroom will empower students, particularly those from resource-limited institutions, to gain a deep understanding of genomics and prepare for careers in research and the bioeconomy.
Overview of Presentation:
- Compare genomics sequencing curricula, experiment resources, and teaching strategies for college and pre-college audiences
- Identify the ethical considerations, accessibility, and opportunities for inclusion in introductory genomics education
- Summarise technical and pedagogical challenges in genomics education
- Generalize and adapt the resources presented to local context and applications
Jason Williams (Moderator)
Assistant Director
Cold Spring Harbor Laboratory DNA Learning Center
Mr. Williams is Assistant Director, Inclusion and Research Readiness at the Cold Spring Harbor Laboratory DNA Learning Center where he develops national biology education programs. Mr. Williams has delivered professional development and training for thousands of students, researchers and educators in bioinformatics, data science, and molecular biology. His focus has been developing bioinformatics in undergraduate education and career-spanning learning for biologists. Jason is founder of LifeSciTrainers.org – a global effort to promote community of practice among professionals who develop short-format training for life scientists. Jason is advisory to cyberinfrastructure, bioinformatics, and education projects and initiatives in the US, UK, Europe, and Australia.
Daniel Shay
Teacher and IST Science Curriculum Director
North Central High School
Dan Shay is a non-traditional scientist. After graduating college with a Bachelor’s degree, Dan taught environmental education for several years before receiving his Master’s in Teaching in 2013. For the last 11 years, Dan has taught and directed a specialized Biotechnology Career and Technical Education program at a North Central High School. The goal of this program is to teach students the skills they need to enter into a career in biotechnology research. In the 5 years that he has directed the program, Dan has received over $100k in funding to update the technological infrastructure of his lab, some of this went towards purchasing the Oxford Nanopore minION and developing protocols for students to collect and analyze sequencing data as a class. Dan was the recipient of the 2021 Washington State Science and Engineering Fair Teacher of the Year award and the 2023 WA State Outstanding Biology Teacher Award.
Katharina Wolff
Doctoral Student
Plant Biotechnology and Bioinformatics, Technische Universität Braunschweig
Katharina Wolff is currently a doctoral candidate at TU Braunschweig, working with Prof. Dr. Boas Pucker in the group “Plant Biotechnology and Bioinformatics”. Her research spans the realms of Synthetic Biology, Plant Genomics, and Bioinformatics, seamlessly blending wet lab and dry lab methodologies. Within the workgroup, Katharina oversees the operations at the ONT Sequencing Facility. Her role involves leveraging her expertise in both wet lab techniques and bioinformatics to conduct thorough and comprehensive genomic analyses. Additionally, Katharina has developed and supervised a practical Data Literacy in Genome Research course in collaboration with Prof. Dr. Boas Pucker.
Laura Reed, PhD
Professor of Biology
University of Alabama
Laura K. Reed is a Professor of Biology at the University of Alabama. Dr. Reed received her BS in Biology (University of Oregon), her PhD in Ecology and Evolution (University of Arizona), was NIH-NRSA postdoctoral fellow (North Carolina State University), and joined the faculty at the University of Alabama in 2010. Her research focuses on the evolutionary genomics of complex traits and effective science education methodology. She directs the Genomics Education Partnership (thegep.org), a collaboration dedicated to bringing course-based genomics research experiences into undergraduate courses across the US.
Jonathan Pugh
Director
Nanopore Education at Oxford Nanopore Technologies
Jonathan Pugh has devoted over a decade to Oxford Nanopore Technologies, advancing from a foundational role in nanopore research to currently spearheading the company's educational initiatives as the Director of Nanopore Education. With a rich career encompassing product management, marketing, and now education, Jonathan leverages his extensive expertise to bring sequencing technology to a wider student demographic across the globe. His current role reflects a harmonious blend of his adept communication skills and a deep-seated knowledge of nanopore sequencing, aiming to foster STEM engagement and education for the next generation of scientists.
James Melton, PhD
Senior Lecturer
Spelman College
Dr. James Melton is a Senior Lecturer in the Biology Department at Spelman College. He obtained his PhD in Biology from the University of Alabama and studied the diversity and organellar genomics of green algae. Previously as a CURE (Course-based Undergraduate Research Experience) postdoctoral fellow at Spelman College, he investigated the diversity and transcriptomics of Amoebozoa. He currently leads the ‘Phage Discovery and Genomics’ program at Spelman College and has incorporated Oxford Nanopore sequencing into the classroom for every student to be able to sequence their isolated phage.
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Directors of four NIH funded projects that aim to train people from underrepresented groups in genomics and introduce them to future careers will present an overview of their program. Following this will be a panel discussion about opportunities and challenges in recruiting, training, and retaining a diverse and representative genomics community.
A lack of representation within the genomics workforce limits the questions addressed, interpretation of the research, and uptake of actionable results into communities. While these limitations are well known, a lack of representation within the genomics community persists. Challenges include a lack of entry points along the educational and career pathway and barriers or hardships to continuing resulting in lower retention.
Here, we bring together directors of four NIH funded projects that aim to train people from underrepresented groups in genomics and introduce them to future careers. Underrepresented groups include first-generation college students, people with disabilities, and students from Historically Black Colleges and Universities (HBCUs) and Hispanic Serving Institutions (HSI). Each program presents a different point of entry into the genomics community from undergraduate genomics research experiences and fellowships, to Master’s degrees in genomic data science, to career videos that foster science identity. In addition, these programs provide support to retain individuals including fostering identities as genomic scientists, building mentor networks, and cultivating a sense of belonging. After each director presents an overview of their program, there will be a panel discussion about opportunities and challenges in recruiting, training, and retaining a diverse and representative genomics community.
Overview of Presentation:
- Identify genomics training programs and career resources
- Classify different points of entry into genomics careers
- Identify best practices to focus on developing a sense of belonging and supporting building identities as a genomic scientist
- Understand ways to build and support diverse communities and mentoring networks
Audrey Hendricks, PhD
Dr. Audrey Hendricks is an Associate Professor in the Department of Biomedical Informatics at the University of Colorado Anschutz Medical Campus. She is passionate about increasing inclusion and representation in all areas of science, including who completes the research, what questions are asked, and for whom the research is useful. In this aim, she co-directs two training programs to increase representation in genetics: Pathways in Genomic Data Science (PATH-GDS) and Pathways in Genomic Research Experiences for Undergraduates (PATH-GREU). She also leads the Hendricks Team, which aims to develop and apply statistical and machine learning methods to better understand the complex nature of human health. Current projects include improving the utility and equity of large, publicly available resources, identifying the biological mechanisms of healthy diets, elucidating the genomic underpinnings of conditions and traits, and, most recently, evaluating how estimates of genetic risk vary including by social determinants of health and throughout the lifespan including the menopause transition.
Betzaida Maldonado, MS
Betzaida is a PhD student in the Human Medical Genetics & Genomics Program at the University of Colorado-Anschutz Medical Campus. Betzaida was born in Mexico and lived there until she was 12 years old when her family moved to Colorado. She obtained a B.S. and M.S. in Forensic Science and spent 5 years working as a Forensic DNA Analyst at the Georgia Bureau of Investigation. Betzaida’s research interests are at the intersection of Population Genetics and Biostatistics. She is in the lab of Dr. Gignoux in the Department of Biomedical Informatics and is currently interested in precision medicine efforts that focus on underrepresented populations. Outside of research, Betzaida is passionate about teaching, mentoring, and supporting students interested in STEM careers.
Kristy Duran, PhD
Kristy L. Duran is the Director of Undergraduate Research and a Professor of Biology at Metropolitan State University of Denver. She earned her B.S. in Biology from the University of New Mexico, M.S. in Neurobiology from Colorado State University, and Ph.D. in Evolutionary Ecology from the University of Colorado, Boulder. She is a Ford Foundation Fellow and the President-Elect of the Society of Senior Ford Fellows. She is passionate about undergraduate research and issues around diversity, equity, and inclusion and is the Co-PI on the NIH Training Grant titled Genomics Research Experiences for Undergraduate Students.
Louisa Stark, PhD
Louisa A. Stark is a Professor of Human Genetics and holds a H.A. and Edna Benning Presidential Endowed Chair at the University of Utah School of Medicine. She is the Associate Director (formerly director) of the Genetic Science Learning Center, whose mission is “making science and health easy for everyone to understand.” The Center develops educational materials that are freely disseminated world-wide via its Learn.Genetics and Teach.Genetics websites. It is particularly known for its visually-engaging, scientifically-accurate multimedia educational materials that address all areas of life science. New materials focus on connecting science content with career opportunities.
Joseph Graves
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Dr. Gabrielle Lemire will discuss exome copy number variant (CNV) detection, analysis and classification on a cohort of 6,633 families with undiagnosed rare genetic disorders. With the resolution provided by exome sequencing, they identified a causative CNV in 2.6% of families and assessed CNV pathogenicity by applying an advanced classification approach.
Dr. Gabrielle Lemire will discuss exome copy number variant (CNV) detection, analysis and classification on a cohort of 6,633 families with undiagnosed rare genetic disorders. With the resolution provided by exome sequencing, they identified a causative CNV in 2.6% of families and assessed CNV pathogenicity by applying an advanced classification approach.
Overview of Presentation
- CNVs can be difficult to identify by standard exome sequencing and challenges still remain in accurate classification of CNV pathogenicity.
- CNV calling using GATK-gCNV was performed on exomes from a cohort of 6,633 families (15,759 individuals) with heterogeneous phenotypes and variable prior genetic testing collected at the Broad Institute Center for Mendelian Genomics.
- The addition of CNV detection to exome analysis identified causal CNVs for 171 families (2.6%).
- To classify CNV variant pathogenicity, we used the 2020 American College of Medical Genetics and Genomics/ClinGen CNV interpretation standards and developed additional criteria to evaluate allelic and functional data as well as variants on the X chromosome to further advance the framework.
- We interpreted 151 CNVs as likely pathogenic/pathogenic and 20 CNVs as high-interest variants of uncertain significance.
- Calling CNVs from existing exome data increases the diagnostic yield for individuals undiagnosed after standard testing approaches, providing a higher-resolution alternative to arrays at a fraction of the cost of genome sequencing.
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ASHG Members get access to our recorded webinars for free! Log in to watch the rest of the webinar.Gabrielle Lemire, MD, FRCPC
Research Fellow
Boston Children’s Hospital; Broad Institute of MIT and Harvard
Dr. Gabrielle Lemire is a medical geneticist certified under the Royal College of Physicians of Canada who currently trains at Boston Children’s Hospital and Broad Institute of MIT and Harvard. She completed her medical and residency training in medical genetics at Université de Montréal and a clinical research fellowship with the Care4Rare Canada Consortium at the University of Ottawa. She is currently a postdoctoral research fellow in Dr. Anne O’Donnell-Luria’s laboratory at Boston Children’s Hospital. Dr Lemire performs exome and genome analyses to identify rare disease diagnoses and novel gene discovery. Her research focuses on developing novel approaches to investigate undiagnosed rare genetic diseases, understanding their molecular mechanism, and improve phenotype delineation of rare diseases.
Alba Sanchis-Juan, PhD
Postdoctoral Fellow at Talkowski Lab, Center for Genomic Medicine
MGH and Broad Institute of MIT and Harvard
Dr. Sanchis-Juan is a Postdoctoral Research Fellow at the Center for Genomic Medicine MGH, Harvard Medical School and the Broad Institute of MIT and Harvard. Alba completed her PhD in Biotechnology at the Polytechnic University of Valencia, in collaboration with the University of Cambridge, and joined the Talkowski laboratory in 2020. Her research has focused on the discovery of unknown etiological genes and variants in coding and non-coding regions of the genome of patients with rare diseases, with a particular focus on identification and resolution of structural variants and complex rearrangements using short- and long-read whole-genome sequencing technologies. Currently, she is leading large-scale population and clinical genomics efforts to aggregate the largest collection of rare disease cases to date to combine the full spectrum of genetic variants to empower gene and variant discovery causing rare diseases.
Harrison Brand, PhD
Assistant Professor
MGH and Harvard Medical School
Dr. Harrison Brand is an Assistant Professor in the Departments of Neurology and Surgery at Massachusetts General Hospital (MGH) and Harvard Medical School. He also serves as the Associate Director of the Broad Structural Variation Group. Research in his lab focuses on the development of novel methods for the analysis of structural variation (SV) from whole genome sequencing data and application of these methods to decipher the genetic architecture of structural birth defects and other developmental disorders. He served as one of the primary developers of the cloud-based GATK structural variant caller (GATK-SV) and has led efforts to generate robust SV reference databases for the genomic community in cohorts such as gnomAD, 1000 genomes, and All of Us.
Anne O'Donnell-Luria, MD, PhD
Assistant Professor, Boston Children's Hospital and Institute Member
Broad Institute of MIT and Harvard
Dr. O’Donnell-Luria is an Assistant Professor in Pediatrics at Boston Children’s Hospital, Harvard Medical School and Institute Member at the Broad Institute of MIT and Harvard. Her research is focused on improving the diagnosis of rare disease. She obtained her MD/PhD degrees from Columbia University Medical School and residency training in Pediatrics, Clinical Genetics, and Medical Biochemical Genetics at Harvard Medical School, Boston Children’s Hospital. She is part of several collaborative studies in genomics including the GREGoR consortium, NeuroDev Project, gnomAD consortium, CAGI consortium, and ClinGen. Her research is focused on methods and technologies to improve rare disease diagnosis given that half of patients remain undiagnosed.
Sara Cullinan, PhD (Moderator)
Deputy Editor
American Journal of Human Genetics
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Attendees will learn how to access HPRC data and resources. They will be able to conduct variant analyses using the pangenome and they will be able to utilize tools for mapping functional genomics data, such as RNAseq and DNA methylation data, to the pangenome.
The NHGRI-funded Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. The project leverages innovations in technology and study design to construct the highest possible quality human pangenome reference. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve disease association studies across populations, expand the scope of genomic research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine.
The HPRC is poised to release another set of haplotypes before ASHG 2024. In addition to releasing these data, the HPRC is working across scientific communities to foster a new ecosystem of analysis tools. We aim to facilitate community engagement with the pangenome via outreach and education to create an expert user base of the pangenome reference to ensure that researchers are well-positioned to accelerate research. After completing the webinar, attendees will have learned how to access HPRC data and resources. They will be able to conduct variant analyses using the pangenome and they will be able to utilize tools for mapping functional genomics data, such as RNAseq and DNA methylation data, to the pangenome.
Overview of Presentation:
- Introduce participants to the pangenome project and its resources
- Conduct Variant analysis using the pangenome
- Provide instruction using alignment and analysis for functional genomics
- Facilitate engagement with the pangenome and summarize the tools available to the community
Heather Lawson, PhD
Dr. Lawson received her PhD in Biological Anthropology from Penn State in 2008. She went on to do a postdoc with Dr. Jim Cheverud at Washington University where she focused on characterizing gene-by-environment interactions and parent-of-origin effects on metabolic traits in mice. She started her lab in 2015, using systems biology to elucidate the (epi)genetic architecture of complex traits. She is currently a member of the Human Pangenome Reference Consortium (HPRC), the Impact of Genomic Variation on Function Consortium (IGVF), and the Somatic Mosaicism across Human Tissues Network (SMaHT).
Robert Fulton
Mr. Fulton is an Assistant Professor of Genetics at Washington University School of Medical in St. Louis and the Director of Technology Development at the McDonnell Genome Institute (MGI). His role is to develop and deliver genomic solutions to a broad range of clinical and research questions based on his 30-plus years of experience in the generation of DNA sequence and analysis. Mr. Fulton holds bachelor’s (genetic engineering) and master’s degrees, both from Southern Illinois University, Edwardsville.
Juan Macias-Velasco, PhD
Dr. Juan F. Macias-Velasco is a postdoctoral research associate in the Department of Genetics at Washington University in St. Louis. He earned his B.S. in Biology from The University of Texas at Tyler, his M.S. in Biotechnology from The University of Texas Health Science Center at Tyler, and his Ph.D. in Computational and Systems Biology from Washington University in St. Louis. During his postdoctoral tenure in the lab of Dr. Ting Wang, Dr. Macias-Velasco has led the Collaborative and Integrative Genomics group at the McDonnell Genome Institute. He actively participates in the Human Pangenome Research Consortium and the Impact of Genomic Variation on Function Consortium, contributing to the development of pangenomic methods. Dr. Macias-Velasco’s work aims to enhance the understanding of the gene regulatory landscape and its implications for regenerative medicine. He has received recognition for his contributions to the field, including multiple presentations at national and international conferences, and has published extensively on topics related to functional genomics and systems biology.
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This webinar will provide a typology of four novel service delivery models for genetics services and present real-world examples, providing attendees with an approach to analyzing and addressing the unmet need for genetics consultation in primary care at their own institutions.
The supply of clinical genetics specialists (medical geneticists and genetic counselors) is insufficient to meet current demand for equitable genetic consultative services. To bridge the gap between primary care patients needing genetics consultation and the limited supply of specialists, health care organizations have implemented various alternative service delivery models. This webinar will provide a typology of novel service delivery models and present real-world examples of each: 1) a hub-and-spoke model in which a centralized “hub” offers specialty care to primary care and community “spokes”; 2) a train-the-PCP model, in which primary care providers receive the training and support needed for them to perform common genetic medicine services themselves; 3) a PCP extender model, in which new staff are added or existing staff trained to provide limited specialty care within primary care; and 4) a specialty integration model, in which specialists such as genetic counselors are integrated into a primary care practice.
After the presentations, a panel discussion with Q&A will allow speakers and audience members to discuss the relative advantages and limitations of each model and the factors organizational leaders should consider when selecting a model for their specific clinical context. As a result, this webinar will provide attendees with an approach to analyzing and addressing the unmet need for genetics consultation in primary care at their own institutions.
Overview of Presentation:
- Compare and contrast the characteristics of different genetics service delivery models in primary care
- Identify key implementation strategies for different genetics service delivery models across diverse clinical contexts
- List the resources and personnel required to implement different genetics service delivery models
- Evaluate the impact of different genetics service delivery models on health disparities, access to care, and primary care provider genetics knowledge
Jason Vassy, MD, MPH, MS
Jason Vassy, MD, MPH, MS is an Associate Professor of Medicine at Harvard Medical School and clinician-investigator at the Veterans Affairs (VA) Boston Healthcare System. He is a practicing primary care internist and researcher in the implementation and evaluation of genomic medicine interventions. For the last decade, he has directed the Genomes2Veterans Research Program at VA Boston, where his research examines the clinical utility of genetic and genomic testing in various primary care clinical contexts, including clinical trials of pharmacogenetic testing, polygenic risk score testing, and return of unanticipated genetic results.
Kopika Kuhathaas, MS
Kopika Kuhathaas is a Board Eligible Genetic Counselor. She holds a Master of Science in Genetic Counseling from the MGH Institute of Health Professions and a Bachelor of Science in Biology from the University of Waterloo. Kopika’s graduate thesis project examined clinicians' perspectives and their approaches to managing direct-to-consumer genetic testing in their practice. She has worked with a number of research programs, such as the Undiagnosed Diseases Network, where she contributed to various projects and provided compassionate support to participants with rare diseases and their families. Kopika is passionate about improving equitable access to genetic testing and services.
Mylynda Massart, MD, PhD
Mylynda B. Massart, MD, PhD, is a board-certified Family Medicine physician at UPMC, and associate professor at the University of Pittsburgh. She is the founder and Medical Director of the UPMC Primary Care Precision Medicine clinic, and as the Associate Director of Clinical Services for the Institute for Precision Medicine. Dr. Massart is a core director at the Clinical and Translational Science Institute (CSTI). Dr. Massart serves as one of the co-Investigators for the All of US Pennsylvania research project working on community education and engagement and as MPI of The Community Engagement Alliance Consultative Resource (CEACR).
Pamela Ganschow, MD
Dr. Pamela Ganschow is the Director of the Cancer Prevention and Survivorship program at the University of Illinois Cancer Center in Chicago transitioning to her position there in March of 2021 after 23 years on faculty at Cook County Health. She is an oncogeneralist who trained in internal medicine at Northwestern University and now focuses her clinical care and research primarily on cancer along the continuum of care from prevention and screening through survivorship. She has dedicated her professional life to work in cancer control research and education, building innovative programs that enable equitable, high-quality access to cancer screening and prevention services for underserved populations with a recent focus on embedding cancer survivorship and cancer genetic services into the primary care space.
Adam Buchanan, MS, MPH
Adam Buchanan is Associate Professor and Chair of the Geisinger Department of Genomic Health, an NIH-funded investigator, and board-certified and licensed genetic counselor with 20 years of research experience in assessing genetic counseling outcomes and risk management behaviors. He has clinical expertise in genetic counseling among, and genomic screening for, individuals at increased risk of hereditary cancer, inherited cardiovascular disease and other genetic conditions. Further, he is a master’s trained behavioral scientist and has completed mentored training in implementation science methodology at the National Cancer Institute. Mr. Buchanan is on the leadership group of the MyCode Genomic Screening and Counseling program, which conducts population screening for clinically actionable genetic disease risk.
Leland E. Hull, MD, MPH
Dr. Hull is an Assistant Professor of Medicine at Havard Medical School and clinician-investigator in the Division of General Internal Medicine at the Massachusetts General Hospital (MGH). Her research focuses on designing, implementing, and testing approaches to bring genomic medicine to the front lines of clinical care to improve disease risk prediction and personalize clinical decision-making. Clinically, she is a practicing primary care physician and also serves as Clinical Director of the MGH Preventive Genetic Counseling Service, which offers expedited genetic counseling for common guideline-concordant preventive genetics questions (e.g. obtaining breast cancer susceptibility testing, arranging for preconception carrier screening).
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