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.

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. 

In this episode, host Eli Roberson, PhD interviews Farren Briggs, PhD, ScM, an associate professor at the University of Miami Miller School of Medicine. Dr. Briggs shares insights into his career journey, discussing his upbringing in Belize, his initial interest in science, and the evolution of his academic path from basic science research to epidemiology. Their conversation delves into the importance of diversity, equity, and inclusion (DEI) in the scientific community, emphasizing the need to celebrate individuality, provide equal opportunities, and foster a sense of community.

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.

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.

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

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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.

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.

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.

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.