Invited Sessions Listing

Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

15. Achieving Genomics Literacy for the Masses: Providing Meaningful Education for Multiple Audiences

TBD, San Diego Convention Center

Moderators: Adam M. Hott, HudsonAlpha Inst for Biotech, Huntsville
  Rivka Glaser, Stevenson Univ, Owings Mills

 

Twitter: “@GeneticsSociety How do we communicate in the classroom, café and clinic the importance of genomics? We must to battle funding decline and spot #fakenews #genomicliteracy.” The utility of genomic research from food production to infection diagnostics and the integration of genomics in medical practice is quickly becoming a standard conversation from the lunch table to Twittersphere to the general practitioner’s office visit. It is now more important than ever to ensure genomics literacy across the spectrum of age ranges and career specialties. Achieving that for groups as diverse as K‑12 students, the general public, or healthcare providers is nuanced and can be difficult to navigate. This session explores ongoing efforts to increase genomics literacy for K‑12, undergraduate, general public and pre‑healthcare/healthcare provider audiences from NHGRI’s Genomics Literacy, Education, and Engagement (GLEE) to the development of the CSER Consortium’s Guide to Interpreting Genomic Reports: A Genomics Toolkit for non‑genetics healthcare practitioners.

 

10:30 AM   Genomic literacy for K-16 audiences: Efforts to develop a national campaign to enhance genomic literacy. E. Tuck. NIH/NHGRI, Bethesda.

11:00 AM   The Genomics Education Partnership: Expanding opportunities for undergraduate research in genomics. S. C. Elgin. Washington Univ St Louis.

11:30 AM   Supporting the practice of genomic medicine on the front lines. K. M. East. HudsonAlpha Inst Biotech, Huntsville.

12:00 PM   Doing science is not enough: The importance of communicating your research in any way you can. C. Gunter. Emory Univ Sch Med, Atlanta.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

16. Chromatin Dysregulation in Neurodevelopmental Disorders

TBD, San Diego Convention Center

Moderators: Shigeki Iwase, Univ Michigan Med Sch, Ann Arbor
  Anne E. West, Duke Univ Sch Med, Durham

 

Neurodevelopmental disorders, including autism spectrum disorders, intellectual disability, and schizophrenia, are prevailing conditions associated with impaired cognitive and adaptive behavior. Many chromatin regulators have been genetically associated with neurodevelopmental disorders, and we have begun to understand the molecular and cellular basis of these disorders. In this session, leading experts will discuss how chromatin contributes to normal brain development and how altering the functions of histone modifiers and chromatin remodelers in disease impairs neurodevelopment. The first speaker, Shigeki Iwase, focuses on regulators of histone H3K4 methylation and discusses how this chromatin modification contributes to normal and pathological brain development. Next, Elena Battaglioli highlights the unique chromatin regulation within neurons via neuron-specific alternative splicing of a histone demethylase. The third speaker, Anne West, discusses how repressive histone H3K27 methylation controls the temporal maturation of postmitotic neurons. Finally, David Picketts explains the roles of ATP-dependent chromatin remodeling enzymes in brain development. While the session aims to shed new light on fundamental chromatin regulations leading to normal brain development and function, it will also provide clinical insights into how we diagnose, discover pathophysiological mechanisms, and eventually ameliorate neurodevelopmental disorders.

 

10:30 AM   Balancing and reading H3K4 methylation in neurodevelopmental disorders. S. Iwase. Univ Michigan Med Sch, Ann Arbor.

11:00 AM   Neuron-specific LSD1 controls plasticity-related transcription and provides a clue to deciphering intellectual disability. E. Battaglioli. Univ Milan, Italy.

11:30 AM   Chromatin regulation of neuronal maturation. A. E. West. Duke Univ Sch Med, Durham.

12:00 PM   Unraveling the mechanisms of aberrant chromatin remodeling associated with intellectual disability. D. Picketts. Univ Ottawa, Canada.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

17. Clinical Spotlight: Realizing the Promise of Common Genomic Variation in Rare and Common Disease: Clinical Implementation of Polygenic Risk Scores

TBD, San Diego Convention Center

Moderators: Amanda E. Toland, Ohio State Univ, Columbus
  Alison H. Trainer, Peter MacCallum Cancer Inst & Univ Melbourne, Parkville, Australia

 

Whilst the contribution of common genomic variation to both rare and common disorders has informed both human physiology and disease etiology, its translation into the clinical setting is only now emerging. Individually each variant is of poor predictive or diagnostic value due to its low effect size, but evidence is emerging that an individualized combinatorial polygenic risk score (PRS) may have utility in both population-based and clinic-based medicine. Clinical trials are currently investigating the use of PRS-based assessments to aid in individual diagnosis or as a means of stratifying, and thereby appropriately targeting, disease risk at a population level in order to increase diagnosis rate and cost-efficiency. In this session, we will highlight the clinical uses of PRS using results from current studies from a variety of medical specialties including cancer, cardiovascular disease, Alzheimer’s disease and autism, and spanning different aspects of care from disease prevention to diagnosis and treatment. The session will also demonstrate the interplay between PRS and additional monogenic variants and environmental factors in determining clinical phenotypes.

 

10:30 AM   Use of the polygenic risk score as part of breast cancer risk assessment in the WISDOM Risk Thresholds Trial. E. Ziv. UCSF.

11:00 AM   Polygenic risk score analysis in the pre-symptomatic prediction and diagnosis of Alzheimer’s disease. V. Escott-Price. Cardiff Univ, United Kingdom.

11:30 AM   Polygenic risk scores as a determinant of autism spectrum disorder heterogeneity. E. Robinson. Harvard Sch Publ Hlth & Broad Inst, Cambridge.

12:00 PM   Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. S. Kathiresan. Massachusetts Gen Hosp, Boston.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

18. Large Scale Functional Annotation of Variants of Uncertain Significance

TBD, San Diego Convention Center

Moderators: Stan Letovsky, LabCorp, Westborough
  Alice Berger, Fred Hutchinson Cancer Res Ctr, Seattle

 

Genomic tools and analysis methods are enabling investigation of the functional effects of genetic variants at high-throughput. New methods of controlled mutagenesis, such as the CRISPR/Cas9 system, allow systematic exploration of the space of possible mutations. Functional assays based on flow cytometry, minigene reporters, or differential survival, often using next-generation sequencing as a readout, demonstrate a growing toolkit of methods for assessing functional impacts. Machine learning approaches are being applied to these datasets to estimate the probability of pathogenicity. Taken together these tools provide a powerful and scalable approach to understanding functional impacts of genetic variants where clinical or population data are lacking. This session will feature presentations from leaders in this exciting new field, using as a primary example the BRCA genes and their impact on cancer risk.

 

10:30 AM   Gene editing, flow sorting and sequencing to address the challenge of annotating variants of uncertain significance. H. Ostrer. Albert Einstein Col Med, New York.

11:00 AM   Accurate functional classification of thousands of BRCA1 variants with saturation genome editing. L. M. Starita. Univ Washington, Seattle.

11:30 AM   Clinical annotation of BRCA1 VUS through functional assays. N. T. Woods. Univ Nebraska Med Ctr, Omaha.

12:00 PM   High-throughput splicing screen of genetic variants of unknown significance. W. Fairbrother. Brown Univ, Providence.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

19. New Developments in Mendelian Randomization

TBD, San Diego Convention Center

Moderators: David M. Evans, Univ Queensland, Brisbane, Australia
  Brent Richards, McGill Univ, Montreal, Canada

 

Mendelian Randomization (MR) is a statistical method that uses genetic variants as instrumental variables to inform causal relationships. Initial applications of MR mostly focused on estimating the causal effect of environmental exposures on medically relevant outcomes. In recent years, MR has found considerable utility across a wide range of domains including in the development of pharmaceutical agents (i.e., drug target validation, drug repurposing, and side effect identification) and in the interpretation of high-dimensional -omics studies. In this session, we discuss some of the latest breakthroughs in the development and application of the MR methodology. This includes using MR to inform drug development (including using high dimensional -omics data), performing MR studies of disease progression (which is potentially more informative in terms of disease treatment than MR studies of disease risk), developing new strategies to deal with the pervasive issue of pleiotropy in MR analyses, and using MR to investigate the causal influence of maternal exposures on offspring outcomes.

 

10:30 AM   Mendelian randomization and disease progression: Challenges and opportunities. G. Davey Smith. Univ Bristol, United Kingdom.

11:00 AM   Mendelian randomization in drug discovery and development. R. Scott. Glaxo-Smith Kline, Stevenage, United Kingdom.

11:30 AM   Evaluation of horizontal pleiotropy among causal relationships inferred from MR between complex traits and diseases. R. Do. Icahn Sch Med Mount Sinai, New York.

12:00 PM   Using Mendelian randomization to disentangle maternal and fetal contributions to low birth weight and future risk of cardio-metabolic disease. N. Warrington. Univ Queensland, Brisbane, Australia.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

20. Silent Genomes: Indigenous-led Initiatives on Addressing Equity in Genomics Health Care and Research

TBD, San Diego Convention Center

Moderators: Nanibaa' A. Garrison, Seattle Children’s Res Inst
  Keolu Fox, UCSD

 

Indigenous populations worldwide face unique health challenges, inequities, and barriers to healthcare. As such, they typically have poorer health outcomes than do non-Indigenous groups. While genetics/genomics research has greatly advanced health outcomes in mainstream populations, there is danger of increasing health inequities including the ‘genomic divide’. The ‘genomic divide’ is a much written-about, complicated reality that is based in unequal access to genomic technologies and social-economic determinants, and also considers the lack of relevant background genetic variation data, potentially preventing accurate diagnosis and limiting effectiveness of genetic/genomic research. Indigenous people may be hesitant to participate in genetic/genomic research and clinical testing when it is available. Historical and current reasons that might prevent participation include unconsented secondary use of biological samples (including research that traces ancestry), funding agency requirements for data sharing, conflicting researcher/community priorities, and general concerns of exploitation of Indigenous communities for the benefit of mainstream science and economics. Throughout the United States, Canada, Australia and New Zealand, Indigenous scholars are leading initiatives to improve access to genetic/genomic research and healthcare based in their unique cultural context and within governance models acceptable to their populations. We welcome an engaged audience, including through our Twitter hashtag #IndiGenomics. Our all-Indigenous international panel will be co-moderated by a bioethicist (@NanibaaGarrison) and genomic scientist (@KeoluFox) and will consist of a highly interdisciplinary group of experts, including a surgeon, internist, epidemiologist and translational researcher, who will present the initiatives they are involved in, within their respective regions, to narrow the genomic divide.

 

10:30 AM   Un-silencing genomes: Introduction to the panel. N. A. Garrison. Seattle Children’s Res Inst.

10:40 AM   Misuse & abuse: When good intentions result in harm. M. Taualii. Univ Hawaii, Manoa, Honolulu.

10:50 AM   Addressing inequity in genomic diagnosis and research: Development of governance and culturally relevant policies. N. Caron. Univ British Columbia, Prince George, Canada.

11:00 AM   Australian Aboriginal culture, genomics and biobanking. N. Brown. South Australian Hlth & Med Res Inst, Wollongong, Australia.

11:10 AM   Building an indigenous genomics platform in Aotearoa New Zealand. M. Hudson. Univ Waikato, Hamilton, New Zealand.

11:20 AM   Indigenizing genomics: A synthesis and introduction to panel discussion. K. Fox. UCSD.

11:30 AM   Panel discussion. N. A. Garrison. Seattle Children’s Res Inst.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

21. Technical Approaches and Guidelines for Protecting Privacy of Genetic Data

TBD, San Diego Convention Center

Moderator: Armin Pourshafeie, Stanford Univ

 

In recent years, the available genetic and health related data has grown at an astonishing rate. The availability and sharing of this data has led to exceptional research opportunities for researchers worldwide. At the same time, negligence in sharing the data can put participants in danger of re-identification. In many cases, re-identification can have severe adverse effects on the participants and can lead to lost trust in the scientists and withdrawal of participation in the future. As a result, it is crucial to 1) understand the risks and 2) develop methods that allow for the progress of science through sharing the data without jeopardizing the participants' privacy. In this line, Yaniv Erlich will introduce the problem and discuss the taxonomy of attacks as well as the trade-offs between privacy and utility of the data. Next, Bradley Malin will talk about new game-theoretical insights that help construct platforms that balance privacy, utility of data, and the adversary's desire to breach a participants' privacy. He will further discuss existing, real-world implementation of data sharing schemes employing these insights. Next, Victoria Popic will discuss her new read-mapping algorithm, Balaur. Balaur allows for scalability by delegating a substantial amount of the computations to the public cloud while staying private. Lastly, Bonnie Berger will discuss recent results on performing GWAS studies, at scale, while ensuring that the information about the underlying data is not leaked. The talks are followed by a panel discussion with all the speakers.

 

10:30 AM   The hitchhiker's guide for genome hacking. Y. Erlich. MyHeritage/Columbia Univ, Or Yehuda, Israel.

10:50 AM   Achieving genomic privacy through sociotechnical controls. B. Malin. Vanderbilt Univ, Nashville.

11:10 AM   A hybrid cloud read aligner based on MinHash and kmer voting that preserves privacy. V. Popic. Illumina, Inc, San Francisco.

11:30 AM   Secure genome crowdsourcing for million-individual association studies. B. Berger. Massachusetts Inst Technol, Cambridge.

11:50 AM   Panel discussion. A. Pourshafeie. Stanford Univ.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

22. Uncovering Missing Heritability in Mendelian Diseases: Lessons from Inherited Eye Diseases

TBD, San Diego Convention Center

Moderators: Elfride De Baere, Ghent Univ, Ghent, Belgium
  Elena V. Semina, Med Col Wisconsin, Milwaukee

 

Eye diseases are among the most common inherited human disorders. Around one third of the known genetic defects or syndromes involve the eye. Eye research has often blazed a trail for many disciplines to follow, giving a lead in (functional) genomics, transcriptomics, genome editing, stem cell biology, animal models of disease, and the development of novel therapeutic approaches such as gene therapy. Geneticists have identified a large proportion of the genes underlying genetic eye diseases. However, the coding genetic defects identified only account for part of the morbid genome of inherited eye diseases, suggesting new classes of defects such as non-coding defects or frequent hypomorphic alleles in known or undiscovered eye disease genes. These changes are either largely undetected by conventional genomic strategies or are difficult to interpret. This session brings together a diverse group of experts in gene discovery and mechanisms of disease, bioinformatics, model systems and gene editing. They have been committed to identify genes and functionally characterize genetic defects, both coding and non-coding, that are specifically or predominantly expressed in the eye and therefore play an important role in eye function as well as in the pathogenesis of inherited eye disorders. Together, this session will address knowledge gaps in the pathogenesis of genetic eye diseases through cutting-edge approaches related to bioinformatics, (functional) genomics, genome editing and model systems as a paradigm for precision medicine in Mendelian disease.

 

10:30 AM   Using machine learning to predict genes associated with autosomal dominant eye diseases. C. Rivolta. Univ Lausanne and Univ Leicester, Switzerland.

11:00 AM   The non-coding morbid genome of inherited retinal diseases. E. De Baere. Ghent Univ, Belgium.

11:30 AM   CRISPR/Cas9-mediated evaluation of regulatory elements via genomic deletions in zebrafish. E. V. Semina. Med Col Wisconsin, Milwaukee.

12:00 PM   Frequent alleles in the human population account for a significant fraction of inherited retinal disease and lead to a paradigm shift in genetic data interpretation. R. L. Allikmets. Columbia Univ, New York.


Wednesday, October 17

10:30 AM–12:30 PM

Concurrent Invited Session I

23. Understanding Tumor Heterogeneity from Single Cell Sequencing of Genomes, Transcriptomes and Epigenomes

TBD, San Diego Convention Center

Moderators: Xinying Zheng, 10x Genomics, Pleasanton
  Elham Azizi, Mem Sloan Kettering Cancer Ctr, New York

 

It is well established that tumors are marked by heterogeneity. Our understanding of this heterogeneity has largely been limited to studies of DNA variation, with many key insights about minimal residual disease, treatment-resistant clones, and response to immunotherapy emerging as a result. However, the development of higher-throughput single cell technologies and new applications of that technology have broadened our understanding of tumor heterogeneity to include differences in gene expression, epigenomics, and the tumor microenvironment. These new approaches provide an unprecedented look at the complexity of tumor evolution and provide new markers for metastasis, drug response, and disease state. In this session, we will describe how single cell technologies are being used to identify different types of tumor heterogeneity and how this information is changing our understanding of tumor biology, metastatic processes, and treatment. The session will cover 1) the use of single cell DNA and RNA sequencing to understand the progression from in situ to invasive disease in cancer, 2) single cell barcoding to track the growth and composition of genetically-altered human tumor cells in mouse models of metastasis, 3) how epigenomic heterogeneity can be used to identify key regulatory pathway differences associated with differences in treatment response and growth potential in tumor populations, and 4) the importance of single cell profiling of tumor samples to understand the interplay of the immune system and the tumor during tumor evolution and immunotherapy.

 

10:30 AM   Dissecting cancer heterogeneity through epigenomic variability and transcriptome analysis. W. Greenleaf. Stanford Univ.

11:00 AM   Characterization of tumor microenvironment in breast carcinoma using scRNA-seq. E. Azizi. Mem Sloan Kettering Cancer Ctr, New York.

11:30 AM   Multiplexed and quantitative analysis of tumor suppressor and oncogene function in vivo. M. Winslow. Stanford Univ.

12:00 PM   Detecting clonal populations and constructing cell lineages of complex populations. D. Craig. Univ Southern California, Los Angeles.


Thursday, October 18

5:00 PM–6:30 PM

64. Presidential Symposium: Origins of Our Species: Advances in Our Understanding of Ancient Humans in Africa

Hall C, Ground Level, San Diego Convention Center

Moderators: Charles N. Rotimi, NHGRI, Bethesda
  Sarah Tishkoff, Univ Pennsylvania, Philadelphia

 

This exciting session is focused on recent advances in our understanding of human origins, migration and health, with a focus on findings in ancient and modern Africa. The speakers will discuss current understanding of early hominin including anthropological and genetic evidence that points to earlier emergence of modern humans and apparent genetic contributions from prior species. The recognition of this deep and braided history of our species in Africa has consequences for understanding genetic variation in modern human populations and their influence on health and disease. The session ends with a panel discussion and audience Q&A.

 

5:00 PM   Current status and future directions. J. Hawks. Univ Wisconsin Madison.

5:25 PM   Reconstructing the prehistory of Africa: The narrative of the genes. H. Soodyall. Natl Hlth Lab Service & Univ Witwatersrand, Johannesburg, South Africa.

5:50 PM   Genetic medicine research in Africa: Promise, problems, prospects. A. Wonkam. Univ Cape Town, South Africa.

6:15 PM   Panel discussion.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

74. Advances in Unraveling the Genetic, Molecular, and Clinical Complexity of Autism

TBD, San Diego Convention Center

Moderators: Maria Chahrour, Univ Texas Southwestern Med Ctr, Dallas
  Brian O'Roak, Oregon Hlth & Sci Univ, Portland

 

Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with genetic and non-genetic causes. Next-generation sequencing technologies have allowed for recent strides in the genetics of ASD, while the molecular mechanisms underlying disease pathogenesis have remained elusive, hindering therapy development. Our goal for this invited session is to provide an overview of current areas of emphasis in ASD research spanning genomics and genetics, molecular pathways, sex-specific signaling, and phenotyping strategies to guide drug development. Importantly, as gene discovery and functional studies continue, new parallels are discovered between ASD and other neuropsychiatric, neurodegenerative, and complex disorders, which can be leveraged to understand pathogenesis and develop therapies. We will start with human genetics of ASD and how next-generation sequencing has changed the way we think of the disorder, also focusing on how to determine whether a candidate gene mutation can be reliably considered as causative. We will then discuss how protein degradation has been involved as a mechanism for ASD and how it is linked to alterations in circuit function and cognitive/social behavior. We will explore how we can use mouse lines recapitulating human mutations to study the striking 4:1 male:female bias in ASD. Finally, we will conclude with patient phenotyping of the genetic subtypes in ASD, and efforts to leverage all these molecular findings to develop therapies for neurodevelopmental disorders. Overall, we strive to spur discussion across different fields and demonstrate that better understanding of a disorder as complex as ASD can be deepened by a multidisciplinary approach.

 

10:30 AM   Unlocking autism's genetic etiology: Lessons learned from new mutations. B. O'Roak. Oregon Hlth & Sci Univ, Portland.

11:00 AM   Rare inherited mutations in autism spectrum disorder. M. Chahrour. Univ Texas Southwestern Med Ctr, Dallas.

11:30 AM   Sex-specific intracellular signaling as a cause for male bias in autism. M. Manzini. George Washington Univ, Washington.

12:00 PM   Prospective phenotyping of ASD using a genotype-first approach. R. Bernier. Univ Washington, Seattle.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

75. Clinical Spotlight: ASHG/ESHG Building Bridges: Prenatal Genetic Testing: Recent Advances and Current Challenges

TBD, San Diego Convention Center

Moderators: Heather Mefford, ASHG 2018 Program Committee Chair
  Joris Veltman, ESHG 2018 Program Chair

 

In recent years, prenatal genetic testing has made great advances in predicting birth defects and genetic disorders while bringing unexpected challenges. Experts from ASHG and ESHG will present issues that have arisen as genetic tests become more common, from implementing newer techniques like non-invasive prenatal testing (NIPT) to handling return of maternal incidental findings. The session will close with a dynamic panel discussion, where the speakers will compare and contrast solutions to current challenges in the American and European healthcare systems.

 

10:30 AM   Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies. E. Sistermans. VU Univ Med Ctr, Amsterdam, Netherlands.

10:55 AM   Double trouble: Incidental findings on mother and fetus as a result of noninvasive prenatal testing for aneuploidy. D. Bianchi. NIH, Bethesda.

11:20 AM   Invasive and non-invasive prenatal diagnosis for monogenic disorders: Where are we in the U.S. I. Van den Veyver. Baylor Col Med, Houston.

11:45 AM   Transforming prenatal diagnosis of monogenic disorders in the UK National Health Service. L. Chitty. UCL Great Ormond St Inst Child Hlth, London, UK.

12:10 PM   Panel discussion: Clinical lab concerns.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

76. Duty to Recontact: Do We Need to Reconsider?

TBD, San Diego Convention Center

Moderators: Howard P. Levy, Johns Hopkins Univ, Lutherville
  James O’Leary, Genet Alliance, Washington

 

The "duty to recontact" refers to the ‘possible ethical and/or legal obligation of genetics service providers (GSPs) to re-contact former [or current] patients about advances in research that might be relevant to them’ (Fitzpatrick et al, AJHG 1999). While opinions were mixed in a 1999 survey of ASHG members about the existence of such a duty, most respondents felt that recontact was ethically desirable but not feasible. Since then, advances in sequencing technologies and genomic information offer improved diagnostic sensitivity, new evidence for clinical relevance of genetic findings, and new interpretations of previously identified genetic variants. Simultaneously, IT solutions are facilitating storage of information and its dissemination to stakeholders (e.g., labs, ordering providers, patients, caregivers, third party payers, researchers, additional or newly treating providers). Some argue that these advances in technology and knowledge support the emergence of an obligation for clinicians, researchers and/or laboratories to recontact patients and research participants when additional information becomes available. This session will review the emerging evidence and stakeholder opinions on recontacting and will present newly developed and/or proposed policy statements of the American Society of Human Genetics, the European Society of Human Genetics and the American College of Medical Genetics & Genomics regarding recontact in the clinical and research arenas, highlighting areas of concordance and discordance across Societies, between the U.S. and Europe, and among the varied contexts. The final 60 minutes of the session will be devoted to discussion and debate, including audience polling and questions from the audience.

 

10:30 AM   Recontacting in clinical genetics: European survey results and ESHG recommendations. F. Forzano. Guy's Hosp, London, United Kingdom.

10:50 AM   Patient recontact for revised clinical genomic results: The ACMG approach. K. L. David. NY Presbyterian Brooklyn Methodist Hosp.

11:10 AM   Duty to recontact in the research environment: The ASHG draft position statement. Y. Bombard. Univ Toronto, Canada.

11:30 AM   Panel discussion and audience feedback. J. O’Leary. Genet Alliance, Washington.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

77. Exploring the Medical Phenome: The New Frontier of Genetic Discovery

TBD, San Diego Convention Center

Moderators: Christopher DeBoever, Stanford Univ
  Gillian Belbin, Mount Sinai Sch Med, New York

 

The implementation of population-scale biobanking combined with Electronic Health Records (EHR) has resulted in the rapid generation of genomic data linked to high-dimensional phenotype data for hundreds of thousands of participants. Often termed the "medical phenome," these data include ICD-CM billing codes, laboratory tests, radiologic reports, prescriptions, and progress notes that span decades of a patient’s life-course. These resources offer a variety of novel opportunities for genetics researchers, including the investigation of the continuum between Mendelian and complex disease, the relative contributions of genetics and environment to disease, the exploration of population genomic health, and the ability to interrogate disease mechanisms. Crucially, these data provide a means to explore the integration of genomic data into clinical practice, allowing researchers to define new models for translational research. To ensure that the genomics community is primed to take full advantage of the medical phenome, new paradigms are required for both formulating questions and implementing research in these large resources. This session brings together four researchers at the cutting edge of developing and applying methods to explore the medical phenome derived from diverse population-scale biobanks. The speakers will describe the challenges and opportunities that arise from high-dimensional phenotypes derived from heterogeneous sources and the non-traditional ascertainment of participants within biobanks. They will present new models and approaches tailored to studying the genetics of disease using the medical phenome and highlight examples of the real-world translational impact of their research.

 

10:30 AM   Using Nordic health record data in complex diseases genetics. A. Palotie. Broad Inst, Inst for Molec Med Finland, Boston.

11:00 AM   Exploring genome-phenome relationships in ancestrally diverse patient populations. G. Belbin. Mount Sinai Sch Med, New York.

11:30 AM   Empowering disease research in high-dimensional datasets using multivariate models. C. DeBoever. Stanford Univ.

12:00 PM   Skating to where the puck is going to be: Using genetics in medicine after the cost has already been justified. N. J. Cox. Vanderbilt Univ, Nashville.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

78. Impact of Natural Selection on the Genetic Architecture of Complex Traits

TBD, San Diego Convention Center

Moderators: Shamil Sunyaev, Harvard Med Sch & Brigham & Women’s Hosp, Boston
  Xuanyao Liu, Univ Chicago

 

Evolution and maintenance of complex traits under natural selection has been a long-standing area of genetic research. Polygenic adaptation, stabilizing selection, and negative selection on new mutations can substantially impact the genetic architecture of diseases and complex traits, via direct selection on traits that are correlated with fitness and/or via pleiotropic selection. New methods are being developed to detect the action of natural selection at different time scales, including selection in contemporary humans. This session will discuss recent work on methods that analyze data from large cohorts to detect natural selection and evaluate its impact on diseases and complex traits. The application of these methods has substantially improved our understanding of polygenic disease and complex trait architectures, informing efforts to identify and interpret genetic variation affecting diseases and complex traits.

 

10:30 AM   Polygenic architecture and adaptation of human complex traits. J. Pritchard. Howard Hughes Med Inst, Stanford.

11:00 AM   Detection and quantification of the effect of selection and adaptation on complex traits. P. Visscher. Univ Queensland, Brisbane, Australia.

11:30 AM   Observing natural selection in contemporary humans. M. Przeworski. Columbia Univ, New York.

12:00 PM   Impact of negative selection on common variant disease architectures. A. Price. Harvard TH Chan Sch Publ Hlth, Boston.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

79. Innovative Strategies to Support the Education of Health Care Providers in Genomic Medicine

TBD, San Diego Convention Center

Moderators: Sylvia A. Metcalfe, Murdoch Children's Res Inst, Melbourne, Australia
  Michael Dougherty, Univ Colorado Sch Med, Aurora

 

Educating health professionals about genetics has been a longstanding interest within the genetics professional community. For successful implementation of genomic medicine into health care, new strategies will be needed both for education and system change. This session will highlight what is known about the educational needs of health care providers in genomic medicine, various successful and emerging educational and implementation strategies and evaluation frameworks. All specialists in genomic medicine will play an important role in preparing their non-specialist colleagues for this transformation in clinical care. This session will discuss what’s needed, what works, how to evaluate it and how to implement it.

 

10:30 AM   What is needed and wanted by health care providers to enable integration of genomic medicine into practice? J. C. Carroll. Mount Sinai Hosp, Sinai Hlth Syst Univ Toronto, Canada.

11:00 AM   What works: What are best practices in developing and implementing continuing education programs in genomic medicine for health care providers? K. Reed. Jackson Lab, Farmington.

11:30 AM   What’s new in educating health care professionals in genomic medicine. M. Bishop. Hlth Educ England, Birmingham, United Kingdom.

12:00 PM   How do know your genomics educational intervention for health care providers is effective? A. Nisselle. Murdoch Children’s Res Inst, Melbourne, Australia.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

80. Novel Insights in Aging: Examining the Interface Between Genetics and the Environment

TBD, San Diego Convention Center

Moderators: Lauren Tindale, BC Cancer Agency, Vancouver, Canada
  Douglas Dluzen, Morgan State Univ, Baltimore

 

Chronological age is a major risk factor for many chronic diseases, including cancer. Numerous physiological changes occur with age; however, the underlying genetic and environmental factors that contribute to the dysregulation of normal cell and tissue function have not been completely elucidated—in particular, the interaction and influence of the environment on our genetic predispositions to aging. In this session, each speaker will discuss findings from key areas of aging research, including how epigenetic biomarkers of aging may help to explain paradoxical trends in health outcomes, insights into mitochondrial metabolic checkpoint regulation in hematopoietic stem cells in aging and disease, how genetic factors have been shown to influence lifespan in long-lived individuals, and what extreme environments such as space can teach us about human biology and aging. Identifying genetic factors that underlie how humans age, as well as understanding epigenetic changes that occur in normal aging and disease, may one day lead to the development of therapies to improve human health and longevity.

 

10:30 AM   Epigenetic clock analysis of the Hispanic paradox and lifestyle factors. S. Horvath. UCLA.

11:00 AM   Mitochondrial metabolic checkpoint, stem cell aging, and rejuvenation. D. Chen. UC Berkeley.

11:30 AM   What super-seniors can tell us about healthy aging. A. Brooks-Wilson. BC Cancer Agency & Simon Fraser Univ, Vancouver, Canada.

12:00 PM   Epigenetic age and epiallele shifts in cancer, forensics, and astronauts. C. Mason. Weill Cornell Med Col, New York.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

81. The Genetics of Human Proteomes

TBD, San Diego Convention Center

Moderators: Hua Tang, Stanford Univ
  Weiping Ma, Icahn Sch Med at Mount Sinai, New York

 

Recent advances in proteomics technologies have enabled characterization of protein expression at unprecedented throughput, accuracy and resolution. This session showcases the tremendous opportunities that quantitative proteomics have afforded for elucidating gene function, post-transcriptional regulation and the genetic basis of diseases. Ruedi Aebersold, a pioneer and leader in quantitative proteomics, will introduce the topic, illustrating how steady-state and dynamic changes of the proteome can be quantified and leveraged to reveal the mechanistic link between genetic variation and phenotypic outcomes. Examples from recent and ongoing studies will illustrate situations in which protein expression captures aspects of gene regulation that are not captured by transcriptomic profiling. Next, Emma Lundberg will describe the latest innovation in delineating proteome variation at a single cell level, as well as the success in resolving the spatial distribution of proteins at a subcellular level. The third talk, by Michael Snyder, will focus on the systematic characterization of proteomic variation in more than twenty human tissues, and the map of genetic variants that affects tissue-specific protein abundance (pQTL). The final speaker, Karin Rodland, will emphasize the translational applications of proteomics, specifically in cancer. She will describe a new approach for identifying therapeutic targets by integrating genomic data with protein abundance and post-translation modification. Together, this session aims to highlight the broad utilities of proteomics in human genetics and medical genetics.

 

10:30 AM   Quantitative proteotype: Linking genetic variation and complex phenotypes. R. Aebersold. ETH Zürich & Univ Zürich, Switzerland.

11:00 AM   Single cell variations of the human proteome. E. Lundberg. KTH Royal Inst Technol, Stanford.

11:30 AM   Genetic basis of protein variation across human tissues. M. Snyder. Stanford Univ.

12:00 PM   Clinical insights from phosphoproteomic and proteogenomic analysis of pathways in cancer. K. Rodland. Pacific Northwest Natl Lab; Oregon Hlth & Sci Univ, Richland.


Friday, October 19

10:30 AM–12:30 PM

Concurrent Invited Session II

82. What's Sex Got to Do with It: Sexual Dimorphism in Human Disease

TBD, San Diego Convention Center

Moderators: Chris Cotsapas, Yale Sch Med, New Haven
  Cecilia Lindgren, Oxford Univ, United Kingdom

 

Biological sex is the strongest predictor for a broad array of human traits, but we do not yet understand the mechanisms driving such differences. Height, body composition and metabolic status all vary between the sexes, as does disease incidence, from 90% female in systemic lupus erythematosus and anorexia to 75% male in ankylosing spondylitis and the autism spectrum disorders. These traits are highly heritable, but the majority of the heritability resides on the autosomes, with little evidence for an outsized role of the sex chromosomes in risk. Emerging evidence suggests that autosomal risk variants may have different effects in men and women, indicating a subtler source for dimorphism than sex chromosome variation alone: for example, approximately 50% of loci influencing waist-hip ratio have stronger effects in women than men, with no equivalent and opposite effect in the remainder. In this session, we will explore emerging ideas on the sources of sex differences and how these can lead to mechanistic understanding of the single largest risk factor for human disease.

 

10:30 AM   Sexual dimorphism in autoimmune and inflammatory disease. C. Cotsapas. Yale Sch Med, New Haven.

11:00 AM   Dissecting sexual dimorphism in obesity. C. Lindgren. Oxford Univ, United Kingdom.

11:30 AM   Characterizing genetic correlation across the sexes in UK Biobank. B. M. Neale. Massachusetts Gen Hosp, Boston.

12:00 PM   Sex differences at the molecular level: Lessons from the transcriptome. B. Stranger. Univ Chicago.