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Being human: ASHG 2012 annual meeting preview
October 2012
by Jeffrey Bouley  |  Email the author


SAN FRANCISCO—The human genome stars aligned well for this issue of ddn, allowing us not only to cover major news with initial results from the Encyclopedia of DNA Elements (ENCODE) project—showing that much of our human junk DNA isn't junk after all (see October 2012 cover story, "Treasure in the junk")—but also to have that happen in the same issue we preview what is reportedly the largest human genetics meeting and exposition in the world.

Hosted in the "City by the Bay" this year, the American Society of Human Genetics (ASHG) will hold its 62nd annual meeting Nov. 6-10 at San Francisco's Moscone Center, with more than 6,000 scientists, medical geneticists and genetic counselors expected to attend and more than 200 companies set to grace the exhibit hall. The meeting headquarters is the San Francisco Marriott Marquis Hotel.

The ASHG meeting's scientific sessions, platform presentations and posters will cover a number of areas, prime among them being gene discovery in human genetics, new insights and challenges in next-generation sequencing, revelations about human genes from studies of model organisms, progress in gene therapy, advances in non-invasive prenatal diagnosis, implications of population genetic studies, modeling in statistical genetics, data centralization and its implications for genetics, cancer genetics, clinical and social implications of genomics and improvements in genetics education.

The meeting also will feature presentations of ASHG's annual awards (see "Briefs" stories after this article) and the Gruber Genetics Prize.

"Whole-genome and whole-exome sequencing occupy a dominant place in this year's program," Dr. Michael J. Dougherty, ASHG's director of education, tells ddn. "These technologies, made possible by rapid increases in sequencing capacity and bioinformatics and dramatic decreases in cost, are enabling breakthroughs in the discovery of disease genes and the identification of biological pathways that may be good targets for therapeutics. Also, this year the ASHG meeting will highlight the extent and importance of rare variation and unprecedented levels of international collaboration via large consortia."

Also, in the realm of public outreach, the ASHG 2012 meeting will host for the first time its Science Café, with the topic being the genetics of autism, he says.

Dr. Mary-Claire King, ASHG president and professor of genome sciences and medicine at University of Washington-Seattle, will kick-off the conference on Tuesday, Nov. 6, with the topic, "The Scientist as a Citizen of the World," with the meeting capped off by its closing symposium on Saturday, which will be "Present and Future Directions for Human Genetics."

The rapidly changing landscape of human genetic research has brought with it significant changes for ASHG's annual meeting, Dougherty notes, saying, "With the rise of technologies that allow genomic-scale investigations and the generation of large datasets, bioinformatics tools have become an essential part of genetic analysis. In recent years, ASHG has dramatically increased the number of training workshops involving bioinformatics tools, such as the UCSC Browser, Galaxy and Ensembl. These workshops are one example of how ASHG supports the professional development of its trainees, who are particularly eager consumers of these tools, and how it supports the advancement of the research enterprise itself."

Beyond the knowledge-gaining aspect of the show, Dougherty adds that since just 2009, the annual meeting has grown from 4,800 scientific registrants to 6,300 and from a 189-booth show to a 300-booth show. Compared to previous years, registration and vendor booth sales are up, Dougherty shares, noting that ASHG expects to sell out booth space—300 booths in total and 210 companies among them—and was already at 5,250 scientific registrants by late September, with an expectation to match or exceed the group's 2011 record of 6,345 registrants.

New for the 2012 conference will be a mobile app related to the show.

"In the past, we've had a mobile website, but this is the first year we're taking advantage of the widespread use of smart phones to deploy a downloadable mobile app," Dougherty explains. "We believe this will greatly enhance our attendees' ability to navigate the meeting and obtain even more value from their attendance."

That addition, and the rapid growth of the meeting in recent years, probably won't be the only changes to come soon.

"ASHG continues to be the world's largest meeting in human genetics and the place where the most significant discoveries are announced. It's also the best opportunity for researchers from around the world to network with their colleagues and to strike up fruitful collaborations," Dougherty notes. "ASHG's Program Committee and meeting planners are always alert to new developments that will enhance the experience of our attendees. And because our IT and meeting-planning expertise is in-house, we can react very quickly to new trends in the industry. That's one reason that we know 2013 will be even better than 2012."

Cast your vote before you go

BETHESDA, Md.—The American Society of Human Genetics (ASHG) reminds you that
Tuesday, Nov. 6 is general election day across the United States—as well as the first day of ASHG's annual meeting in San Francisco. As the organization notes, "We realize that many of you may be unable to vote at your regular polling stations. We encourage your participation in the elections. Please consider voting early, which is allowed in most states, or voting by absentee ballot, which is allowed in all states."

ASHG also notes that attendees for its annual meeting can visit the website for further specific instructions by state.

Honoring human genetics leaders

BETHESDA, Md.—Although the ASHG hasn't revealed yet who will receive its Gruber Genetics Prize at the annual meeting in San Francisco, several other annual award winners were named during the summer and also will be honored during the conference.

Among them is Dr. Uta Francke, whom ASHG named as the 2012 recipient of the annual William Allan Award, which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics. Francke, a professor emeritus in genetics and professor of pediatrics at Stanford University, was ASHG's president in 1999. She will deliver her William Allan Award presentation on Nov. 9 during ASHG's 2012 annual meeting.

In addition, the organization conferred its 2012 Curt Stern Award on Dr. Jay Shendure, an associate professor of genome sciences at the University of Washington, for work that has been of "great impact to human genetics research and the discovery of genes contributing to the development of high-throughput sequencing and its application to exomes and functional studies of non-coding DNA disease," according to ASHG. The Stern award is presented annually to recognize outstanding scientific achievements occurring in the last decade.

The 2012 Victor A. McKusick Leadership Award will go to Dr. Francis Collins, director of the U.S. National Institutes of Health, making him the sixth recipient of the award, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics.

Recipients of the McKusick award "exemplify the enduring leadership and vision required to ensure that the field of human genetics will flourish and successfully assimilate into the broader context of science, medicine and health, while also making major contributions to awareness or understanding of human genetics by policy makers or by the general public," according to Dr. Joann Boughman, executive vice president of ASHG.

Finally, Dr. Alan Emery will receive this year's Excellence in Education Award "for contributions of exceptional quality and great importance to human genetics internationally," and more specifically, notes Boughman, for being "one of the most prolific authors of important genetics texts in the world. One of his textbooks has been republished in 12 editions and translated into seven languages. For many in the field of human genetics, he is simply known as 'the expert.' He is also a most gracious gentleman."

About the ASHG

The American Society of Human Genetics was founded in 1948 and considers itself the primary professional membership organization for human genetics specialists worldwide. The society's nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics.

ASHG serves research scientists, health professionals and the public by providing forums to:

• Share research results at annual meetings and in The American Journal of Human Genetics
• Advance genetic research by advocating for research support
• Enhance genetics education by preparing future professionals and informing the public
• Promote genetic services and support responsible social and scientific policies

Members of ASHG work in a wide range of settings, including universities, hospitals, institutes and medical and research laboratories.


Workshops and trainee events

Many of the following events at the ASHG annual meeting in San Francisco require advance registration. Seating tends to be limited, so please register early; however, also be aware that some events may already be fully booked.

• Undergraduate Faculty Genetics Education Workshop
• High School Workshop (for San Francisco students and teachers)
• Trainee-Mentor Luncheon
• Discovering Biological Data at NCBI
• Clinical Interpretation of Cytogenomic Arrays: Tools and Resources
• UCSC Browser Interactive Workshop for Intermediate/Advanced Users
• Social Media + Scientists = Success
• Diagnostic Challenges: Review and Discussion of Unique Cases (Rare and Unknown)
• Galaxy 101: Data Integration, Analysis and Sharing
• Trainee Development Program and Networking Session
• Mock Study Workshop
• Galaxy Workshop: Working with High- Throughput Data and Data Visualization
• Ensembl Browser Interactive Workshop for Intermediate/Advanced Users

Electronically speaking …

ASHG is encouraging the use of social media before, during and after the 2012 annual meeting as a means to share information and network with others who are attending the meeting. Free wireless Internet access will be available in public areas of the convention center and access also will be available in limited common areas; however, that free access reportedly will not be available inside the exhibit hall or meeting rooms.

The society encourages conference attendees to follow ASHG on Twitter (@GeneticsSociety) and to use the #ASHG2012 meeting hash tag to follow the latest updates and join in the conversation about the ASHG 2012 Annual Meeting, as well as to follow ASHG on Facebook at

Attendees are welcomed to blog or tweet about what they hear and learn at ASHG's annual meeting, but are asked to refrain from sharing information online when speaker explicitly requests they do so. The presentations "are 'Tweetable' and shareable by default," ASHG notes, "but speakers can ask that specific details or slides are not shared."

In addition, attendees are not allowed to capture, transmit or redistribute data presented at the ASHG'S annual meeting, which may preclude subsequent publication of the data in a scientific journal. ASHG also asks attendees to be respectful of journal embargo policies and not to jeopardize the work of their colleagues or engage in rudeness, slander or personal attacks.
In other electronic prohibitions, attendees are "strictly prohibited from using cameras and all other recording devices in all meeting session rooms, on the exhibit hall floor and in all poster/oral presentations," ASHG notes. "This means that attendees are not permitted to take pictures of speaker slides or posters."

ASHG notes that in addition to its Twitter and Facebook presence, interested parties can join ASHG's LinkedIn group to gain access to the job announcements posting board for current position openings in genetics-related careers, develop new connections in the field and network with colleagues, and keep up with the latest industry and research news; subscribe to ASHG's YouTube channel to view webcast recordings of selected ASHG annual meeting sessions and educational videos; and subscribe to ASHG's Vimeo channel to view full-length webcast recordings of selected annual meeting sessions and more.

Social and special events

ASHG opening mixer and trainee mixer within a mixer
San Francisco Marriott Marquis Hotel
Yerba Buena Ballroom 7/8/9, Lower Level
Tuesday, Nov. 6
7 p.m. to 8:30 p.m.

This event is open to all scientific registrants and paid guests. The mixer offers a relaxed atmosphere in which attendees can become acquainted and reacquainted with colleagues. Light snacks, refreshments and a cash bar will be offered. Trainees should look for their designated area. Trainees will receive one complimentary beverage ticket.

An Interactive Play: Drama, Discourse and Genomics: From IRBs to IFs
Moscone Center, Room 300, Esplanade Level
Friday, Nov. 9
7 p.m. to 9 p.m.
Separate advance registration required

This interactive session weaves audience participation with the premiere of an original new vignette-play that illuminates ethical, psychological, social, legal and policy concerns surrounding the sharing of information generated by next-generation sequencing. Between each act of the fictionalized play, audience and actors are engaged in discussion as the vignettes evolve, from an institutional review board (IRB) meeting through the informed consent process to the disclosure of incidental findings.

The presenters, Lynn Bush and Karen Rothenberg, aim to delve into controversial ethical issues that include how much should be reported, what specifically and to whom, as well as exploring under what circumstances such reporting should occur and how sharing medical information differs in varying cultures.

As ASHG notes, "This dramatization is intended to foster a deeper appreciation for conflicts when potentially disclosing massive amounts of genomic information. The dynamics of this play revolve around a family (including a child symptomatic with an autosomal recessive disorder and an 'unaffected' sibling), their geneticist, genetic counselor and a discussion among IRB members, as they all experience the challenges of a genomic research study. Interspersed throughout the play, we explore together the complex implications of genomic information, particularly dilemmas raised by the return of results. Contextual subtleties will be brought to life by the volunteer actors who are ASHG attendees."

Seating is limited, so attendees need to register in advance if they haven't already done so and if there is still room. The $10 fee for the performance will offset the cost of evening refreshments, and a cash bar will be available at the event.

Two unavoidables: Weather and taxes

San Francisco is beautiful and vibrant, but it's also a coastal city that you will be visiting in late fall. Be aware that November weather in the city brings with it an average high of 64ºF and an average low of 51ºF, with about three inches of rain during the month. As the ASHG notes, "The golden rule when packing for a trip to San Francisco is to bring layers. Fog can roll in at any time, and areas near the water can feel cool."

Another note about your clothing—or rather, one of your accessories to it: To make sure you can best manage what's in your wallet or purse, you should remember that in San Francisco, there is a 9.5-percent sales tax. Also, the city has taxes that are applied to your hotel rate per night as follows: a 15-percent occupancy tax, a 1.5-percent tourism fee and a 25-cent commerce fee.

Family matters

There will not be any formal child care services at the 2012 ASHG meeting, so attendees who are bringing younger family members along may need to make arrangements directly with the hotel where they have reserved their rooms.

Also, while ASHG doesn't endorse any childcare or babysitting services specifically, it notes that there are at least three programs available in the area: Bay Area Child Care Agency at, Bay Area 2nd Mom Inc. at and American Child Care Inc. at

A "family room" will be located in the convention center so that parents and children will have a place to relax during the meeting, and the room will be equipped with "comfortable furniture and separate private areas for nursing mothers," ASHG notes. However, they cannot use the room for babysitting services. ddn

Career concerns

Career resources and employment opportunities at the 2012 meeting will be offered in partnership with the Federation of American Societies for Experimental Biology (FASEB), and a career center will be open in the exhibit hall during exhibit hours at booth 1700. Coaches will be available to give attendees career guidance, provide interview tips and critique resumes or CVs.
In addition to the onsite services from Nov. 7 through Nov. 9 from 10 a.m. to 4:30 p.m., the ASHG/FASEB Career Center will operate between Oct. 28 and Nov. 10, available at


San Francisco's cable cars reportedly comprise the nation's only moving national historical landmark, running on nine miles of track along three of their original routes at speeds of around 9.5 miles per hour. An average of 13 million people travel on the cable car each year, and this unique and nostalgic mode of transportation is popular not just with tourists but also locals who need to get around San Francisco but don't necessarily want to do it on foot, especially when steep inclines must be traversed—a frequent situation in the this hilly city.
CREDIT: San Francisco Travel Association photo by Phillip H. Coblentz
The tightly packed Victorian-style homes of San Francisco, often painted in bright or non-traditional house hues, are a signature image for many when they think of the city, and some 14,000 Victorian-era homes remain in San Francisco despite 514 blocks of the city going up in flames following the 1906 earthquake. Alamo Square is a good place to see the Victorian homes of Postcard Row, a portion of which is pictures here, with the skyline of San Francisco in the background. Victorian houses in San Francisco are often called Painted Ladies.
CREDIT: San Francisco Travel Association photo by Christine Krieg
The 1.7-mile-long Golden Gate Bridge is the only highway connecting San Francisco directly with Marin County. It took more than four years—about 25,000,000 man hours in total—to build the Golden Gate Bridge in the 1930s; it officially opened to vehicles on May 28, 1937. The bridge's two tapered towers, which were sculpted in the Art Deco style of the 1930s, were once the tallest bridge towers ever built, soaring 65 stories above San Francisco Bay; also, when the Golden Gate Bridge was built it was the longest suspension bridge in the world, and the 746-foot suspension towers were higher than any construction west of New York. More than 40 million vehicles cross the Golden Gate Bridge annually.
CREDIT: San Francisco Travel Association photo by Phillip H. Coblentz
Alcatraz Island was home to the infamous maximum-security prison that once held, among others, Al Capone and Robert Stroud, who was known as the Birdman of Alcatraz. Visitors can ferry over to the island to partake of cellhouse tours and get spectacular views of the San Francisco skyline. Alcatraz Island, like Angel Island in the San Francisco Bay, also once served as a military post.
CREDIT: San Francisco Travel Association photo by P. Fuszard
Lavender agapanthuses complement the facility in San Francisco's massive Golden Gate Park that some call the park's "glorious Victorian vase" but is officially named the Conservatory of Flowers. Said to be the oldest public growing house in California, the conservatory was shipped from London to San Francisco in 1875 and is the oldest structure in Golden Gate Park.
CREDIT: San Francisco Travel Association photo by Carol Simowitz
If you like seafood—both the taste and the pervasive smell of it—San Francisco's Fisherman's Wharf is a great place for a snack or a meal, offering a variety of fresh seafood that is typically ready for a to-go order. The Dungeness crab at Fisherman's Wharf is one of the main attractions; a San Francisco favorite, this creature reportedly accounts for about 99 percent of the crab catch in the Pacific Ocean. Various tourist spots, shops and eateries are also found near the wharf.
CREDIT: San Francisco Travel Association photo by Jerry Lee Hayes

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