Show Preview: The genome goes to Orlando

 

 

By Jeffrey Bouley

 

It’s probably a good sign of breadth and depth in an annual meeting program when the chair of the Program Committee begins his video introduction to potential event attendees with, “It’s really hard to point to one specific thing; there’s really lots of things I’m excited about.”

 

That said, there’s always something that still stands out, as the program chairman for the American Society of Human Genetics (ASHG) annual meeting, Dr. Peter Scacheri, noted when he followed with: “The Presidential Symposium is something that is certainly going to be very memorable. Bill Gates [Microsoft Corp. co-founder] and Francis Collins [director of the National Institutes of Health] are going to be having a conversation about global health—they’re going to be answering questions that are posed from the audience live. So I’m really excited about that.”

 

“But the scientific program that we have prepared is excellent,” Scacheri noted of ASHG 2017. “I mean, there is just a diversity of topics that should be of interest to basic scientists, to clinicians, to genetic counselors—pretty much anyone who has anything to do with genetics should be excited about the program that we have for 2017.”

 

Among new offerings this year is the ASHG and ISPG Joint Symposium: The Mind Matters: Psychiatry Meets Human Genetics. This special symposium is organized jointly by ASHG and the International Society of Psychiatric Genetics (ISPG) and will be held on Tuesday, Oct. 17,  from 1 p.m. to 4 p.m. This session is intended to increase interactions between these two related communities and thereby increase the prospects for productive collaborations.  

 

And while it’s not “new” per se, this is the first time the Poster Talks return to the annual meeting.

 

“So, one of the things that we started last year at ASHG was something called Poster Talks, and this was a real opportunity for trainees to present their work in a different format than a typical platform session,” Scacheri said. “It essentially allows trainees to present and give a brief three-minute overview of their science ... these are well-attended sessions; there were hundreds of people there last year. And so this is something that we brought back from 2016 to 2017.”

 

The Poster Talks will be held at this year’s meeting on Tuesday, Oct. 17, from 7:15 p.m. to 9:15 p.m. This session gives attendees a sneak peek at some of the top-scoring posters across a variety of topics through rapid-fire presentations. As ASHG puts it on the 2017 event website: “Arrive early to network with your fellow attendees over light refreshments. Conversations with the presenters will continue at the Poster Sessions throughout the meeting.” The event is open to all scientific registrants.

 

There is also a Diversity Breakfast, to be held Wednesday, Oct. 18, at 7:15 a.m., with the stated purpose “to mentor trainees from underrepresented minority groups, and to share information on training and career opportunities in genetics and genomics, including medical genetics,” as ASHG describes on its website. “To ensure that advances in genomics are translated into precise and individualized medical care for persons of all backgrounds, there is a need for a culturally diverse workforce of physicians and biomedical researchers.”

 

Also new: The ASHG has introduced the Early Career Award to its lineup of prestigious awards. This award recognizes scientists in the early stages of their careers as independent investigators. The inaugural award in this category will go to Dr. Daniel MacArthur, along with a plaque and a $10,000 prize.

 

And that’s just one of seven awards total. The William Allan Award is another—it is the top prize given by the ASHG, established in 1961 in memory of William Allan (1881-1943), who was one of the first American physicians to conduct extensive research in human genetics. The Allan Award is presented to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity. The recipient—this year being Dr. Kári Stefánsson—is presented with an engraved medal and a monetary award of $25,000 at the annual meeting. The Allan Award winner is also invited to present a 30- to 45-minute address at the meetring, and it is customary to publish a manuscript of the presentation in The American Journal of Human Genetics.

 

Meanwhile, Dr. Nicholas Katsanis is the 2017 winner of the Curt Stern Award, which honors the memory of Curt Stern (1902-1981) as an outstanding pioneering human geneticist. This award is presented yearly for outstanding scientific achievements in human genetics that have occurred during the last 10 years. The work could be a single major discovery or may be a series of contributions on a similar or related topic. A plaque and a monetary award of $10,000 are presented at the annual meeting.

 

The Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education this year goes to Dr. Dian Donnai. ASHG established this award to recognize outstanding contributions to human genetics education. Nominees must have made contributions that are recognized nationally or internationally as being of exceptional quality and great importance to human genetics education. Nominees should have long-standing involvement in genetics education, contributions in more than one area, and contributions of substantive influence on individuals and/or organizations. Examples of the types of contributions that might qualify a nominee include: producing a set of writings that has had a major influence on human genetics education, developing a curriculum or innovative teaching program that is widely emulated, writing a book that has been adopted by many universities, or developing an educational website. A plaque and a monetary award of $10,000 are presented at the annual meeting.

 

Dr. Arthur Beaudet reaps this year’s Victor A. McKusick Leadership Award, established by ASHG in honor of the late Dr. Victor A. McKusick and presented to an individual whose professional achievements have fostered and enriched the development of various human genetics disciplines. Potential recipients should 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. They also may have made major contributions to awareness or understanding of human genetics by policy makers or by the general public. A plaque and a monetary award of $10,000 are presented at the annual meeting.

 

Dr. Edward McCabe, for his part, will receive the Advocacy Award and his own plaque and $10,000. This award honors individuals or groups of individuals who have exhibited excellence and achievement in promoting the science of human genetics and its application for the common good. Areas of advocacy that might warrant receiving this award include promoting the importance of genetics and an understanding of genetically based healthcare in society at large; increasing public awareness of ethical, legal and policy-related issues in genetics; promoting the importance of funding for biomedical research; spearheading/shepherding/implementing genetics policy or legislation; and improving familiarity with genetics research and genetic testing among a broad range of audiences.  

 

Finally, the Mentorship Award this year will go to Dr. John Mulvihill. This award, of course, honors ASHG members who have significant records of accomplishment as mentors. The award is open to individuals at all academic ranks, but eligible candidates must have demonstrated a sustained pattern of exemplary mentorship at the graduate student, postdoctoral, residency or fellowship level. The awardee receives a plaque and $10,000.

 

As far as what there is to see and learn at ASHG 2017 it is, as Scacheri already noted, a wide-ranging and deep program. But he does have a sense of what might get talked about a bit more than most other individual topics.

 

“What’s really hot in genetics right now is the ability to do gene editing,” he noted. “This is something that the field has only dreamed about doing for the past couple decades, and now with the technology called CRISPR we actually have the ability to edit genes. And that opens up a world of possibilities about how we can learn about genetic disease and how we can think about treating those genetic diseases.”

 

 

According to ASHG, the most exciting new feature of the show floor is the addition of networking lounges and educational theaters. They are located next to each other in three of four quadrants in the exhibit hall and called CoLaboratories: built especially for collaboration.

 

Each CoLaboratory, CoLab for short, is categorized by high-level themes so attendees can easily find the kind of session that appeals to them:

Exhibitors are able to present a CoLab Session if they like, which are 30-minute mini-sessions that might consist of product theaters, patient perspectives, best practices, Q&As with “rock-star” scientists and more.

 

In addition, there will be CoLab Industry Challenges, in which sponsoring exhibitors lead a thought-provoking discussion, engaging the audience with a challenge or question and then brainstorming a solution.

 

 

Wednesday, Oct. 18, 7 p.m. to 9:00 p.m.

Hilton Orlando, 6001 Destination Parkway, Orlando, Fla.

 

ASHG invites you to enjoy an evening of fun with your fellow colleagues. Celebrate genetics at ASHG 2017 with lawn games, refreshments and a new matching game. When you arrive at ASHG 2017, your meeting bag will have a button (badge) of an iconic image in genetics. At the Opening Reception, you’ll find your match, make a friend, and win a prize! 

The reception will feature a very special musical guest: Ethidium Spill, whose members include “genetic rock stars” Francis Collins, Anthony Antonellis and Elliott Margulies. The event is open to all registered attendees. Light refreshments will be served and there will be a cash bar.

 

Thursday, October 19, 6:45 p.m. to 8:45 p.m.

The Pub Orlando, Pointe Orlando, 9101 International Drive, Orlando, Fla.

Ever wonder what all of those people on Twitter or other social media look like in person? Here's your chance to find out. Join the members of the ASHG communications committee and any other ASHG attendees who use social media like Twitter—or anyone who wants to learn—for a happy hour and conversation. This event is open to all ASHG attendees.

 

Dates, times and locations vary

Throughout the meeting, outside organizations may hold educational events, networking opportunities, and university/special receptions.

 

           

One of the longest running conferences in the personalized/precision medicine space, Arrowhead's 9th Annual Personalized & Precision Medicine Conference is coming to Orlando, Fla. on Oct. 16-17 as an official satellite event to ASHG 2017.

 

Nine years ago, Arrowhead’s Personalized & Precision Medicine Conference focused almost exclusively on the one-on-one relationship between the pharmaceutical and diagnostic industries. Since then the field has evolved to include not just these bilateral relationships, but multi-stakeholder relationships that are now integral to the future of the field. The conference will present the latest research and trends propelling precision medicine into the future with a focus on innovations in research and development; technological developments; precision medicine advances in infectious disease, central nervous system (CNS) and cardiovascular disease; patient/citizen involvement (the “quantified self”) and its impact on advancing precision medicine, health and social well-being.

 

Key themes at this year's conference:

 

R&D: Trends & Challenges in Diagnostics and Therapeutics—Rapidly advancing scientific, technological and societal developments enable us to now combine the best science with applications in real time, including data collection. The ability to quantify physiologies and genetic make-ups as well as patients using omics based and imaging technologies is increasing. Speakers and panelists will discuss how these disruptions are improving R&D.

 

Technologies Revolutionizing Precision Medicine—Technological innovations including but not limited to new computational platforms and methods, machine learning, digital imaging, medical decision support tools and their impact on improving our understanding of disease processes, detection, treatment and prevention will be discussed by experts and innovators.

 

Beyond Oncology: Infectious Disease, CNS Disorders and Cardiovascular Disease—Genomics and the related omics are improving our understanding of the biological complexities and physiological processes involved in infectious, CNS and cardiovascular disease and therefore the ability of precision medicine to impact detection, treatment, prevention and chronic care. Presenters will discuss key advances in these respective fields, and the success and challenges in implementing precision into clinical management.

 

Harnessing Big Data For Research & Clinical Application—Large-scale data analysis is transforming the way we diagnose, treat and prevent disease. This section addresses a range of challenges in improving the access, portability, sharing and storage of personal genomic data. Accessing “locked” databases whose data is available only for a cost vs. publicly available data is but one such challenge.

 

Patient Engagement, Empowerment & Ethical Issues—Speakers will discuss the powerful impact of patient engagement and the various ethical issues in ensuring that patients have access to their data, if they so choose, as well as to the diagnostics, treatments and management strategies they have helped to develop by sharing their personal data.

 

From Research to Clinical Adoption: Drivers, Barriers, and Designing Success Strategies—Implementing innovation in clinical medicine increasingly requires adoption by healthcare institutions. The adoption process has always been, and remains, a formidable challenge due to various factors including; institutional barriers, cost, lack of knowledge, skill or motivation. Speakers will discuss a range of drivers, barriers and possible solution strategies to expedite efficient and effective implementation of evidence based solutions.