North Coast Conference on Precision Medicine and the CICB symposia
Polygenic Risk Scores in Precision Medicine: Predictably Unpredictable in Diverse Populations
Due to COVID-19, the sixth annual Cleveland Institute for Computational Biology annual symposium, otherwise known as the North Coast Conference on Precision Medicine, was held virtually and featured a total of seven speakers over the course of two afternoons. The 2020 symposium topic broadly covered emerging issues of developing and applying polygenic risk scores (PRS) across various populations with diverse genetic ancestral backgrounds. The 2020 speakers described PRS in general with an example using prostate cancer (Fred Schumacher, PhD); novel methodology that optimizes the generalization of PRS when the target population is different from the discovery population (Carla Márquez Luna, PhD); the need for better risk scores and breast cancer studies in African Americans (Athena Starlard-Davenport, PhD); novel methodology to optimize PRS developed in and applied to biobanks linked to electronic records (Ruowang Li, PhD); PRS for polycystic ovary syndrome (Ky'Era Actkins); and PRS for primary open angle glaucoma in African Americans (Jessica Cooke Bailey, PhD, MA). The 2020 symposium also featured Case Western Reserve University graduate student Anna Miller in the first "trainee spotlight." Ms. Miller described her recent collaborative work on APOL1 and pre-eclampsia in African Americans.
More Sequencing and Genotyping in Diverse Populations: Who Wants What Back (and When)?
For the second consecutive year, the Cleveland Institute for Computational Biology annual symposium, otherwise known as the North Coast Conference on Precision Medicine, was held at the Cleveland Botanical Garden. On Monday, September 9th, 2019, five speakers were featured on various topics related to return of genomic results. The 2019 symposium topic continued the 2018 symposium conversation on return of genomic results to participants and patients with an emphasis on diverse populations. The 2019 speakers covered issues related to the resources requires for the average participant to access large and complex genomic files returned to them (Dr. Farren Briggs, Case Western Reserve University), the return of results from clinical exome sequencing for hereditary cancers (Dr. Katrina Goddard, Kaiser Permanente Center for Health Research), the return of results for breast cancer screening in Trinidad and Tobago (Dr. Gerneiva Parkinson, Yale University), the return of genetic ancestry results to participants in the Afro-Mexico Genomics Project (Dr. María Ávila-Arcos, Universidad Nacional Autónoma de México), and the Kidney Precision Medicine Project in Cleveland (Dr. Dana Crawford for Dr. John Sedor, Case Western Reserve University and Cleveland Clinic). The 2019 symposium also featured an interactive, real-time survey of attendees on knowledge of genomics data that could be returned to them and opinions on how to best improve the interaction between those collecting the data and the participants and patients receiving them.
Sequencing and Genotyping in Diverse Populations: Who Wants What Back (and When)?
The 2018 symposium was held for the first time at the Cleveland Botanical Garden in Cleveland, OH on September 13, 2018. The overall theme of the symposium centered on the current trend and challenges of return of genomic results to patients and participants with an emphasis on diversity. The five speakers covered a range of topics under this broad umbrella, including equitable participation of underserved populations (Dr. Naninbaa' Garrison, Seattle Children's Research Institute); challenges in internet-based research participant engagement (Dr. Sarah Hartz, Washington University); gaps in utility, access, and utilization in minority communities (Dr. Latrice Landry, Partners Health Care Personalized Medicine and Brigham and Women's Hospital Center for Advanced Molecular Diagnostics); pharmacogenomics (Dr. Aniwaa Owusu Obeng, Mount Sinai); and returning whole exome sequencing results to adults for development brain disorders (Brenda Finucane, MS, LGC, Geisinger Health System).
Being Precise in Precision Medicine–Measuring Exposures in Diverse Populations
The 2017 symposium was held at the Tinkham Veale at Case Western Reserve University in Cleveland, OH on September 28, 2017. The symposium featured a combined lecture series and hands-on workshop. The overall theme focused on current topics related to collecting lifestyle/behavioral and exposure data with an emphasis on diverse populations. This all-day conference featured six invited speakers covering a range of topics related to this year’s theme including tools to collect and harmonize phenotypes and exposures (Dr. Erin Ramos, NIH/NHGRI), statistical methods for gene-environmental interaction studies (Dr. Misa Graff, UNC), measuring little cigar use in Cleveland and beyond (Dr. Erika Traple, CWRU), measuring physical activity in the elderly (Dr. Jennifer Schrack, Johns Hopkins University), developing culturally sensitive materials for research and interventions that target lifestyle (Dr. Monica Webb Hooper, CWRU), and measuring air pollution, climate, and socioeconomic status for studies of human health (Dr. Stefanie Sarnat, Emory University). This year’s symposium also featured a lunchtime workshop on extracting exposure and lifestyle information from electronic health records lead by Dr. Sarah Pendergrass (Geisinger Health System).
Precision Medicine for All: Ensuring Diversity in Participants and in Practice
In 2016, we hosted our second annual symposium, discussing the challenges and scientific advantages of including diverse populations in the study and implementation of precision medicine. Precision or personalized medicine is the incorporation of ‘omic data into clinical practice to better predict, prevent, and treat disease at the individual level. The White House-led Precision Medicine Initiative (PMI) is ramping up, and the first projects are being awarded to ascertain and follow 1 million Americans in a study of genetics, environment, and lifestyle to better understand their influence on human health. Despite the excitement surrounding these research developments, patient enrollment is a tricky business. There are many factors – personal, statistical, ethical, social, demographic, and otherwise – that may make it difficult to ensure that all populations are represented in research studies, and that all populations stand to benefit from research findings. Our seven local and national speakers presented the latest research on precision medicine research in diverse populations. We closed the symposium with special guests Veronica Robinson and Shirley Lacks, great-granddaughter and daughter-in-law of Henrietta Lacks, a cervical cancer patient whose biospecimens were used without her consent to create immortal cell lines, now known as HeLa cells. The Lacks family spoke about their family’s experience both as research participants and their role in informing and directing research and policy.
Present-Day Problems and Potentials for Precision Medicine
In 2015, we hosted our inaugural symposium on precision medicine. The recent availability of electronic health records and the affordability of ‘omic data generation make precision medicine possible. However, before precision medicine can be fully and effectively implemented for the benefit of all patients, a host of topics must be explored through the Precision Medicine Initiative and other research efforts. To discuss these emerging issues, we brought together several leading experts in precision medicine to discuss specific topics ranging from use of electronic health records in research settings, application of research findings in a clinical setting, ethics and health disparities, and statistical and computational challenges and opportunities. Our symposium attracted physicians, researchers, and trainees, and represented a broad and diverse range of expertise from in and around northeastern Ohio.
Putting the Pieces Together: Precision Medicine Discovery from Electronic Health Records
In coordination with our 2015 symposium on precision medicine, we also hosted a workshop with hands-on exercises in electronic phenotyping. We introduced the differences between a clinical record and a validated scientific phenotype. We discussed the challenges inherent to some phenotypes that are not well-characterized with billing codes, and posed strategies for leveraging laboratory and clinical notes for refining a phenotype definition.