ASHG 2014 Preview: Shining a light on human genetics in sunny San Diego

SAN DIEGO—Bringing with it what is reportedly the largest human genetics meeting and exposition in the world, the 64th Annual Meeting of the American Society of Human Genetics (ASHG) will meet in California this year, at the San Diego Convention Center, from Saturday, Oct. 18 to Wednesday, Oct. 22. This year’s meeting is expected to attract more than 6,500 scientific attendees and feature well over 200 exhibiting companies.

The meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics. ASHG members and other leading scientists from around the world are selected to present their research findings at invited, platform and poster sessions. Abstracts of work submitted for presentation at the annual meeting are published online and are citable. ASHG’s annual meeting also features a trade show floor that offers attendees the opportunity to view state-of-the-art medical and laboratory equipment, products, services and computer software designed to enhance human genetics research, teaching and consultation.

Joseph McInerney, ASHG executive vice president, tells DDNews that this year’s meeting will be remarkable in a number of ways. For example, there will be 230 exhibit booths—more than last year—a Distinguished Speakers’ Symposium on so-called big data, discussions on the genetic testing of children and adolescents, a joint symposium sponsored by the ASHG and the American Society for Bioethics and Humanities (ASBH), various awards presentations and screenings of two films, one of which had already been released as of the writing of this article. There will also be eight poster walks, with 15 trainees per walk and three posters highlighted per walk. Finally, McInerney notes, there will be a “Building Bridges” session co-sponsored by the European Society of Human Genetics that will explore uncertainties faced by this still-emerging field of genomics.

The annual meeting begins on Saturday, Oct. 18, at 5 p.m. with the presidential address by Cynthia Casson Morton of Brigham and Women’s Hospital and Harvard Medical School. The address will be followed immediately by three plenary abstracts sessions that encompass four of the highest-scoring submitted abstracts (one of the sessions features two abstracts).

One of the highlights of the meeting will actually take place before the official start marked by the presidential address. ASHG and the ASBH will sponsor a joint satellite symposium titled “From Clinical to Community Sequencing: Emerging Ethical, Legal and Social Issues in Genomics” on Saturday, Oct. 18 from 10:30 a.m. to 2:30 p.m. at the San Diego Convention Center in Room 25. This symposium is free to registrants of the ASHG and ASBH meetings.

The symposium will be moderated by Eric Juengst of the University of North Carolina, Chapel Hill. The symposium is designed to stimulate interdisciplinary collaboration through the discussion of new studies and policy developments related to genetics and social, ethical and legal issues.

The joint symposium will start of with a section addressing new guidance on pediatric genetic testing, which is appropriate given that the ASHG Social Issues Committee has established a working group to update its recommendations on genetic testing in children—this statement should be complete by the fall of 2014. This committee will address the recent controversy over a statement from the American College of Medical Genetics (ACMG) regarding reporting incidental findings in sequencing. The American Academy of Pediatrics/ACMG published an update to its statement on genetic testing in children in 2013. This discussion will present the recommendations of each group and highlight similarities and differencesm as follows:

ASHG Social Issues Committee recommendations (Jeff Botkin, University of Utah)
AAP/ACMG recommendations (Howard Saal, Cincinnati Children’s Hospital)
Parental Perspectives on Return of Pediatric Results (Joon-Ho Yu, University of Washington)
Sequencing and Return of Results in Newborn Screening (Aaron Goldenberg, Case Western Reserve University)

The next part of the joint symposium will deal with genomics and preventive genomic sequencing. As noted by ASHG, the falling costs of DNA sequencing are making it possible to contemplate the integration of targeted sequencing into preventive screening protocols for newborns and adults to benefit population health, in both clinical and public health contexts. This session will survey the new research efforts assessing these proposals and discuss the issues that are emerging for such efforts, through the following:

Participant Preferences and Reactions to Return of Results of Whole Exome Sequencing (Wendy Chung, Columbia University)
Preventive Genomic Screening in Adults (Gail Henderson, University of North Carolina, Chapel Hill)
Physician/Patient Responses to Pharmacogenetic Testing (Malia Fullerton, University of Washington)
Issues in Immunogenic Screening for Infection Risk (Gail Geller, Johns Hopkins University)

Following a brief lunch break, the joint symposium will conclude by discussing the future of an individualistic ethic for genomic medicine. As genomics research moves to the population level, is translated into population health services and is rebranded as offering “precision” rather than “personalized” medicine, challenges are emerging for our individualistic traditions in research and clinical ethics, ASHG notes. Building on the discussions of the first two panels, this final session will probe the deeper ethical and legal implications of recent trends regarding:

The Role of Consent in Stewardship Models of Research Governance (Barbara Koenig, University of California, San Francisco)
Genetic Testing Disclosures in the Context of Families (Robert Klitzman, Columbia University)
Crowdsourced Research via Consumer Genomics Services (Sandra Lee, Stanford University)
Genomic Sovereignty Claims and International Genomic Research Policies (Shubha Chandrasekharan, Duke University)

Looking at the rest of the meeting in a nutshell, the scientific program over the following four days will include 16 invited scientific sessions and 50 platform sessions representing more than 400 oral presentations drawn from submitted abstracts. Thousands of posters will also be on display from submitted abstracts. In addition, the schedule will include workshops and many exhibitor and affiliate events, including university reunions and receptions.

NEWS BRIEFS

Write winning grant proposals

SAN DIEGO—The American Society of Human Genetics (ASHG) and the Federation of American Societies for Experimental Biology (FASEB) will host their “Career Resources Workshop: Write Winning Grant Proposals” on Saturday, Oct. 18 from 1 p.m. to 4:30 p.m. at the San Diego Convention Center in Room 24C.

This workshop is organized by the FASEB Office of MARC & Professional Development Programs and will be presented by Dr. Stephen Russell of Grant Writers’ Seminars & Workshops LLC. It is intended for trainees and junior faculty members who have had some exposure to writing grant applications, either through training/mentoring or personal experience. Registrants must be either actively writing a grant or anticipate writing a grant within the next year. This seminar will focus on the needs of the audience and the expectations of the National Institutes of Health, in particular changes in how grant proposals are written and reviewed. Emphasis is given to such things as idea development, writing with a linear progression of logic, writing for reviewers and tips and strategies that are of proven value in presenting an applicant’s case to reviewers.

Challenges of big data

SAN DIEGO—ASHG asks: What are the challenges inherent in the pursuit of genome sequencing and genomic data as a universal diagnostic/prognostic/therapeutic guide in human disease research and clinical application? The society promises that some of the key answers, at least, will be touched on in the Distinguished Speakers’ Symposium, “Big Data, Big Answers—Separating Signal from Noise,” to be held Sunday, Oct. 19, from 8 a.m. to 9:30 a.m.

Appearing on the panel will be Ajay Royyuru of the IBM Watson Research Center, who will describe how genomic analytics are executed at IBM Watson. He will be joined by David Glazer from Google who will discuss “Lessons from a Mixed Marriage: Big Sequencing Meets Big Data.” And finally, Muin Khoury from the U.S. Centers for Disease Control and Prevention will address the issues implicit in “Medicine and Public Health.”

Uncertainty and bridges

SAN DIEGO— Heisenberg’s uncertainty principle is one of the most famous (and probably misunderstood) ideas in science. It tells us that there is a fuzziness in nature, a fundamental limit to what we can know about the behavior of quantum particles and, therefore, the smallest scales of nature, such as genes. Here the most we can hope for is to calculate probabilities for where things are and how they will behave. Uncertainty is an inherent part of genomic medicine and pervades the associations of genes to phenotypes, the pathogenicity of variants, the role of modifiers and environment in disease and the efficacy and iatrogenic effects of treatments for disease.

With this in mind, each speaker at the “Building Bridges” joint session of the ASHG and European Society of Human Genetics Session on Tuesday, Oct. 21, will focus on a different aspect of genomic uncertainty:

“History of Uncertainty in Genomic Medicine,” Reed Pyeritz, University of Pennsylvania
“A Taxonomy of Uncertainty for Clinical Genomics,” Les Biesecker, National Institutes of Health
“Conceptualizing and Communicating Uncertainty,” Paul Han, Maine Medical Center Research Institute
“Uncertainties in Consenting to Participate in Sequencing Studies and Receive Results,” Barbara Biesecker, National Institutes of Health
Managing the Ambiguity and Complexity of Genome Sequencing,” Aad Tibben, Leiden University

ASHG announces 2014 William Allan Award recipient, three others

BETHESDA, Md.—The American Society of Human Genetics (ASHG) has named Dr. Stuart H. Orkin—who is the David G. Nathan Professor of Pediatrics at Harvard Medical School, chairman of the Department of Pediatric Oncology at Dana-Farber Cancer Institute, associate chief of hematology/oncology at Boston Children’s Hospital and investigator of the Howard Hughes Medical Institute at Boston Children’s Hospital—the 2014 recipient of the annual William Allan Award for substantial and far-reaching scientific contributions to human genetics.

The award was established in 1961 in memory of Dr. William Allan (1881-1943), who was one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Orkin will receive his award, which will include an engraved medal and $10,000 prize, on Monday, Oct. 20. He will present his William Allan Award address immediately thereafter.

Orkin has pioneered research into the genetics behind blood diseases, including identifying the primary mutations that cause them, defining factors that regulate how these mutations are expressed in blood cells and applying their findings to medicine. In the late 1970s and early 1980s, he and his colleagues comprehensively defined mutations that lead to the thalassemias, a collection of inherited conditions in which the body produces too little of the oxygen-carrying molecule hemoglobin, which leads to anemia.

In the mid-1980s, Orkin’s laboratory was the first to successfully clone a gene causing a disease (chronic granulomatous disease) without already knowing the protein coded by the gene. Their approach to mapping mutations has since been used in similar studies of other genetic disorders. More recently, his laboratory characterized the switch from fetal to adult hemoglobin and how this switch is regulated. He and colleagues are currently exploring ways to translate these insights into new treatments for thalassemias and sickle cell anemia.

Orkin was elected to the National Academy of Sciences (NAS) in 1991 and the Institute of Medicine in 1992. In 2013, he received the NAS Jessie Stevenson Kovalenko Medal. In addition to his contributions to human genetics, ASHG recognizes Orkin’s longtime membership in the Society, including his service on the editorial board of The American Journal of Human Genetics.

Curt Stern Award

ASHG has named as the 2014 recipients of the Curt Stern Award Dr. Gonçalo R. Abecasis, the Felix Moore Collegiate Professor of Biostatistics at the University of Michigan School of Public Health, and Dr. Mark J. Daly, associate professor of medicine and chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital/Harvard Medical School and senior associate member of the Broad Institute.

This annual award, named for the late pioneering geneticist Dr. Curt Stern, recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. ASHG will present the award, which will include a crystal plaque and $5,000 cash prize, to each recipient on Oct. 20.

Abecasis has developed statistical and mathematical methods for the analysis of genetic data that have evolved into standard tools in human genetics. In an era of exponential growth in genetic data, his software helps geneticists analyze studies of families and unrelated individuals, characterize variation among genomes, study connections between genetic variation and human disease and integrate information across gene-mapping studies. He has also led scientific consortia studying a variety of human traits, such as age-related macular degeneration, heart disease and metabolic disease. Abecasis is currently deploying next-generation sequencing technology to study the genomes of thousands of people, with the aim of better understanding genetic variation and human disease biology.

Daly has made key advances in the genetic mapping of common diseases, including the development of the first human genome maps of single-nucleotide polymorphisms. He also helped establish a framework for the association of portions of the genome to complex disease risk and the regulation of gene expression.

He has led consortia of scientists collaborating on efforts to build maps of genomes as well as consortia studying inflammatory bowel disease, autism and schizophrenia that have made substantial progress in identifying genes using a variety of techniques. He has also contributed to numerous statistical methods and software tools that are routinely used by human geneticists worldwide, and in 2010 was named founding chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital. At the Broad Institute, he serves as co-director of the Medical and Population Genetics Program and is a member of the Broad’s Stanley Center for Psychiatric Research.

Victor A. McKusick Leadership Award

ASHG has named Dr. David Valle, the Henry J. Knott Professor and Director at the McKusick-Nathans Institute of Genetic Medicine of the Johns Hopkins University School of Medicine, as the 2014 recipient of the annual Victor A. McKusick Leadership Award.

The award recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. The award will include a plaque and $2,500 monetary prize.

“Over the years, Dr. Valle has had a tremendous impact on human genetics research, leading various studies and consortia on biochemical genetics and genomics in the United States and internationally,” notes Joseph McInerney, ASHG executive vice president. “At the same time, he has maintained a prominent role in improving human genetics education and medical genetics training from K-12 science classes through the postgraduate level.”

Valle’s research focuses on the genetic factors underlying human health and disease and the broader interactions between genes and the proteins they encode that influence health and disease. Notable achievements include characterizing the molecular basis of many single-gene disorders, developing mouse models to study human disorders and analyzing genetic variants associated with psychiatric diseases, such as schizophrenia.

Valle was inducted into the Institute of Medicine of the National Academy of Sciences in 2002 and named a Fellow of the American Association for the Advancement of Science in 2007. He has received numerous awards for his research and teaching, including the March of Dimes Foundation’s Colonel Harland Sanders Award for Lifetime Achievement in Genetics Research and Education in 2003.

Excellence in Human Genetics Education Award

Finally, ASHG has named Dr. Suzanne B. Cassidy, clinical professor of pediatrics in the Division of Medical Genetics at the University of California, San Francisco, as the 2014 recipient of the annual Award for Excellence in Human Genetics Education.

This ASHG award recognizes an individual for contributions of exceptional quality and importance to human genetics education internationally. Awardees have had long-standing involvement in genetics education, producing diverse contributions of substantive influence on individuals and/or organizations. Cassidy will receive her award, which includes a plaque and monetary prize, on Oct. 20 and will deliver her award address immediately thereafter.

“Dr. Cassidy has worked tirelessly to improve genetics education and support patients in a variety of roles—as a teacher, mentor, physician, author and advocate. This award celebrates her contributions to science, medicine and the patient experience,” said McInerney.

ASHG also recognizes Cassidy’s substantial contributions to the society. A longtime member, she belonged to ASHG’s Education and Information Committee from 1987 to 1990, participated in its Rapid Action Task Force on Genetic Testing in 1995 and was a member of its Nominating Committee in 2007. Cassidy also served on the ASHG board of directors from 1993 to 1995.