What You Need to Know About FDA Oversight of Genomics Research

Posted By: Christa Wagner, PhD, 2016-17 ASHG/NHGRI Genetics & Public Policy Fellow

With rapid DNA sequencing now routine, genetics researchers are increasingly testing the clinical utility of its application in various healthcare settings and the barriers to using genomic information in healthcare decision-making. In doing so, some are discovering that their research might be subject to a Food and Drug Administration (FDA) regulation known as the investigational device exemption (IDE) regulation. However, many in the genetics community are unfamiliar with this regulation.

To raise awareness of the IDE regulation, ASHG hosted a policy luncheon at ASHG 2017 that included representatives from the FDA, the research community, and the National Human Genome Research Institute (NHGRI). Presenters explained the relevance of the regulation for genomics research, described an experience of applying for an IDE, and made attendees aware of helpful resources available to the genomics community.

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(L-R) Policy Luncheon presenters Kate Donigan, Jonathan Berg, Cristina Kapustij, and Derek Scholes.

Katherine Donigan, PhD, from the Personalized Medicine Staff at FDA began the session by speaking about the IDE regulation itself and her office’s role in ensuring public health and safety while supporting innovative research and discovery. She explained that genomics research has made great advancements since the IDE regulation went into effect in 1976, and that research using next-generation sequencing where results are being returned to participants warrants consideration under the IDE regulation.

Studies can fall into one of three categories: IDE exempt, Nonsignificant Risk (NSR), and Significant Risk (SR). Only SR studies require FDA involvement, and Kate outlined the variables that her team uses to determine SR, such as the invasiveness of sample collection and the potential for false results. She advised researchers to reach out to FDA to talk through their proposed studies before applying for a grant, so that they know in advance if their research will likely be categorized as SR. This will facilitate a faster IDE application and approval process once grant funding has been awarded.

Jonathan Berg, MD, PhD, from the University of North Carolina then presented on his experience as a trailblazer in interacting with FDA regarding IDE regulations for genomic studies. Jonathan’s NC NEXUS project in the NSIGHT consortium explores the utility of exome sequencing for enhancing newborn screening by sequencing both healthy newborns and infants previously identified through newborn screening, and studying parental decision-making on the additional genomic testing. He detailed the multi-year long process his research group struggled through to become aware of, apply for, and eventually receive an IDE approval. Jonathan explained that he is supportive of FDA oversight but that the regulations need to be applied in a way that does not derail scientific research. He offered some words to the wise: get help! Discuss the risks involved in your research studies with your IRB or other institutional regulatory assistance staff, or consult with the FDA.

Cristina Kapustij, MS, from NHGRI rounded out the panel by outlining the support role her policy team offers to stakeholders and grantees embarking on human genetics research. She explained that NHGRI is working as a bridge to the FDA for researchers looking for guidance on the IDE process when they are designing studies or applying for grants. She described a workshop hosted by NHGRI in 2016 and drew attention to the NHGRI Points to Consider online resource.

The panel concluded with a Q&A session. Attendees asked great questions about diverse topics from funding to return results, retrospective research with biobank samples, streamlining the IDE submission process as technology continues to advance, and more! Check out the information below for more details on IDEs.

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Overview of IDE process and responsible parties (credit: NHGRI Points to Consider)

Resources

ASHG 2017 Policy Luncheon

NHGRI

FDA

Christa Wagner, PhD, is the 2016-17 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on the fellowship and application details, please visit the Genetics & Public Policy Fellowship website.

 

 

 

 

#ASHG17 in the Shoes of a Trainee

Posted By: Monika Schmidt, Chair, ASHG Training & Development Committee

On any given day of the ASHG Annual Meeting, I find myself in a predicament: What’s next on the schedule? Should I attend the exhibitor talk in the CoLab theater, visit interesting posters, or seek advice at the Careers in Academia panel?

No matter how carefully I plan my schedule ahead of time, the meeting always has more to offer than I could possibly take advantage of: exciting talks, posters, trainee events, workshops, exhibitor presentations, and naturally, social events. This year’s meeting in sunny Orlando was no exception, and in my role as Chair of the Training and Development Committee (TDC), I hardly had a moment to sleep.

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TDC members Lauren Tindale, Monika Schmidt, and Julie Jurgens take a moment to enjoy Orlando’s non-genetics attractions. (courtesy Ms. Schmidt)

I kicked off my experience early on Tuesday, October 17, by presenting to ASHG’s Board of Directors all the fabulous work the TDC has done over the past year. Despite being a bit nerve-wracking, this was hugely rewarding – there is so much support for trainee professional development and mentorship from the ASHG community. These two themes reverberated over the rest of the meeting.

Professional Development and Networking at #ASHG17

Developing networking skills benefits from lessons and practice. Recognizing this, ASHG teamed up with The Jackson Laboratory to develop the multi-week Conference to Career Program, which included a dedicated section on networking skills for national meetings.

Following the Conference to Career in-person session, the TDC hosted Peer Networking Trivia – an ideal event to put networking lessons into practice. 2017 marked the third year the TDC hosted this event for trainees; it was rewarding to watch new friendships form as trainees commiserated over the challenging genetics trivia questions. Naturally, it’s much easier to get chatting when a topic is presented for discussion, and so the Tweetup, Opening Reception, and various evening exhibitor events presented new situations for trainees to practice their networking skills. I thoroughly enjoyed meeting trainees at these receptions, chatting about their vision for future initiatives, and of course, singing along with NIH Director Francis Collins on guitar.

Mentors at ASHG: Many Ways to Connect

Between scientific sessions in the mornings and afternoons, trainee mentorship became the focus of my lunch hours. The TDC hosted two panel discussions this year: Careers in Academia and Careers in Industry. The panelists’ responses to trainee questions were thoughtful and thorough, which meant that I and my TDC colleagues spent a lot of time live-tweeting the discussions using our newly-introduced hashtag: #ASHGtrainee. Panelists hung back after the sessions to answer questions one-on-one, providing another networking opportunity.

On Thursday, the TDC launched our inaugural myIDP (Individualized Development Plan) session, led by Philip Clifford. I was blown away by the incredible turnout and high level of engagement with the material presented. This session led trainees on an introspective journey aided by their peers, and asked them to examine their values, strengths, weaknesses, and interests. The goal of the session was to help trainees define career paths that suit their personalities, needs, and wants. With a room abuzz with discussion, 75 minutes was undoubtedly too little time, and the TDC will be looking to expand the session at future meetings.

While the TDC-led lunchtime sessions were happening, ASHG staff were hosting the Trainee-Mentor Luncheons and newly introduced Round Table Discussions. These events focused on establishing trainee-mentor relationships and providing a more intimate setting to ask advice of a successful genetics professional. I myself am still in contact with the mentor who shared lunch with me in 2014. On the note of keeping in touch with mentors or networking contacts: remember that the mentors and Trainee Leaders at ASHG really care for your success as a trainee – we want to hear from you! Your emailed question or LinkedIn request (with an introductory message, of course) are welcome. So, take 30 minutes today to thank the mentors who spent time with you for their advice – you might just get a better response than you expected, and you’ll be on your way to building a network of professional contacts!

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TDC members Douglas Dluzen (far left) and Monika Schmidt (far right) with speakers at a trainee-organized invited session on rigor and reproducibility in genetics. (courtesy Ms. Schmidt)

The final trainee event of ASHG 2017 combined the best of mentorship and networking in an evening reception, Career Paths in Genetics. As a mentor at the TDC table, I and other TDC members were thrilled to answer questions from trainees about what being an ASHG Trainee Leader entails, and how the position provides an opportunity to advocate for trainees within the Society and at a federal level via FASEB. I also took a break to just ‘be a trainee’ per se, and heard a thrilling story about patenting BRCA1 from the intellectual patents mentor, discovered a whole new potential career path in scientific administration, and was offered very sage advice by a mentor from academia on maximizing upon my abilities post-PhD.

Reflecting on ASHG 2017

Every year I return from the Annual Meeting with renewed motivation for my research and a reading list as long as my arm, as is to be expected of any stimulating conference. I also came home hopeful that fellow trainees heard the same messages that I did over the five days in Orlando: it’s always the right time to say hello and explore potential new connections, pursue a new experience to build your skills, learn about yourself, and see what the world of genetics has to offer.

Monika Schmidt, BSc, is the 2017 Chair of ASHG’s Training & Development Committee, and has been part of the TDC since 2015. She first joined ASHG in 2014, the same year she started graduate studies.

Interested in a leadership position like Monika’s? Apply for 2018 Trainee Leadership Opportunities by Monday, November 6. For questions about these opportunities and other trainee issues, contact Monika on Twitter using #ASHGtrainee or by email

Remote Platform Presentation Due to U.S. Travel Restrictions

Posted by: Nancy Cox, PhD, ASHG President

One of our colleagues selected to give a platform presentation at ASHG 2017 will not be able to join us in Orlando. Arvin Haghighatfard, a graduate student at the Islamic Azad University, is unable to travel from his home in Iran due to new restrictions on travel to the United States.

Throughout my presidency this year, I have spoken out about how the new rules limiting travel to the United States threaten to undermine scientific progress both in the U.S. and elsewhere in the world. Science is an inherently international endeavor and the Society strongly opposes the imposition of undue restrictions on scientists’ travel. As an organization representing human genetics specialists worldwide, we consider international travel a major and integral part of our enterprise.

The difficulties that Mr. Haghighatfard has experienced are exactly the kind of situation we feared. Upon learning of his unfortunate experience, we contacted the Department of State on his behalf to raise our concerns, but without success. Given these exceptional circumstances, I believe it is important that we provide Mr. Haghighatfard the opportunity to present his work, so we have arranged for him to conduct his presentation remotely.

I fear that there may also be other geneticists in Iran or elsewhere who cannot attend the meeting because of the travel restrictions. When we gather in Orlando later this month, I hope we spend a moment to think of those in our global genetics family who are unable to join us.

Nancy Cox, PhD, ASHG President, directs the Vanderbilt Genetics Institute and is a Mary Phillips Edmonds Gray Professor of Genetics. She is also the Director of and a Professor of Medicine in the Vanderbilt Division of Genetic Medicine.

No Printed Program at ASHG 2017

Posted By: Pauline Minhinnett, ASHG Director of Meetings

You asked and we listened! To reduce our footprint on the environment, ASHG is no longer offering the full printed Program Guide that we have in previous years. Instead, the most important meeting details, including convention center maps and a schedule overview, will be published in the Program-at-a-Glance. Full information can be found on the official ASHG 2017 Mobile App (available for iOS or Android), Online Planner, and meeting website.

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The ASHG 2017 Mobile App is available for iOS and Android, and as a web version. Check it out!

The online planner and meeting app can help you plan your schedule before the meeting and add to or modify it on site. Our tips:

  • Create an account with the Online Planner to browse and save sessions of interest, create your schedule, and sync across desktop and mobile devices.
  • While on site, you can flag sessions to track continuing education; browse sessions, posters, and exhibit booths by location; and take notes.
  • The app is a helpful networking tool – use it to email speakers and message with other attendees who have opted in to these functions.
  • If you prefer another calendar app, you can export your schedule to any other app supporting .ics files. Similarly, you can add personal meetings and events to your ASHG 2017 calendar.

Prefer the printed versions? No problem! Our Documents and Downloadables page has printable versions of all Program content, as well as other useful materials.

See you in Orlando!

Pauline Minhinnett, CMP, CEM, is ASHG’s Director of Meetings. For more information on ASHG 2017, visit the meeting website.

Awards and Exhibit Hall Changes at ASHG 2017

Posted By: Carrie Morin, ASHG Exhibits, Sponsorship, and Meeting Marketing Manager; and Pauline Minhinnett, ASHG Director of Meetings

ASHG 2017 features several new initiatives and special features to help attendees connect with the latest human genetics science – and each other – in novel, productive ways.

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Watch our video on the latest changes and enhancements to the ASHG Annual Meeting.

CoLabs in the Exhibit Hall

CoLaboratories (CoLabs), are exciting new networking lounges and educational theaters in the Exhibit Hall. Organized by high-level themes – clinical, laboratory, and data – these short events are organized by ASHG, partner organizations, and exhibiting companies. They focus on a single, specific topic or tool, and are free to attend with no advance registration required.

Each CoLab is paired with a networking lounge to facilitate conversation after the session ends. These events are a great way to meet colleagues and potential collaborators who share your interests, and to learn the basics of new tools to help you reach your goals. Be sure to review the CoLab calendar as you start planning your ASHG 2017 schedule!

And don’t forget: the people who staff exhibit booths at ASHG are often your peers! Don’t be afraid to ask them what sessions they find interesting or what new technology has made their jobs easier. They will often share interesting information and remember – they are there for you! They want to talk to you and get your feedback.

Changes to Awards

We’ve also made some changes to the annual Society awards, presented in sessions throughout the meeting. Each award presentation will feature a short lecture by the recipient about his or her current work, past and present challenges, and notable accomplishments. Browse these talks on the schedule of events.

While ASHG’s awards program is over 50 years old, this year’s slate includes our first-ever Early-Career Award, which recognizes scientists in their first ten years as an independent investigator. Finally, we’ve revamped the ASHG/FASEB Mentored Travel Awards Program for Underrepresented Trainees, which now includes a substantial mentoring component. Congratulations to this year’s 13 awardees!

Check out our website for details on other new initiatives at ASHG 2017. See you in Orlando!

Carrie Morin, CEM, is Exhibits, Sponsorship, and Meeting Marketing Manager at ASHG, and Pauline Minhinnett, CMP, CEM, is Director of Meetings. For more information on ASHG 2017, visit the meeting website.

Explore Orlando: Neighborhoods to Discover

Posted By: Amanda Olsen, ASHG Meetings Assistant

Note: We have received a number of inquiries about any potential impact of Hurricane Irma on ASHG 2017 in Orlando. We are in regular touch with local authorities and convention center staff, who report all facilities should be ready to welcome ASHG attendees as planned, and we will continue to monitor the situation.

Starting to plan your travel to Orlando? Consider taking a day or afternoon to venture out of the city and check out some of these area neighborhoods (listed alphabetically). 

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Leu House Museum, Audubon Park (credit: Visit Orlando)

Audubon Park Garden District – 35-minute taxi ride from the OCCC

This is Orlando’s first “ecodistrict,” a sustainable shopping and dining community. Dine here and experience the rewarding taste of farm-to-table foods, locally sourced ingredients, and award-winning cuisine. Audubon Park offers a myriad of specialty food and drink options, most of them being locally-owned small businesses. In addition to its unique boutique stores and dining, this Orlando gem hosts endless foodie festivals. On the eastern edge of town, Leu Gardens never fails to awe visitors as a vast botanical paradise. Although Audubon Park is geographically small, the possibilities for enjoyment are boundless.

College Park – 30-minute taxi ride from the OCCC

Located in northern Orlando, this town takes its title from its Ivy-inspired street names—visitors will find themselves walking down W Harvard Street to cross Dartmouth Street. If you’re in the mood for a stroll, College Park boasts many paved pathways circling its multiple lakes. If you want to take part in some higher learning to reflect the streets along which you travel, visit the Orlando Science Center or the Orlando Shakespeare Theater. The area is also known for its inimitable shopping boutiques and retro dining locations. Follow a trip to the local thrift shop with a cup of coffee at Shaker’s American Café and sip as you look at their extensive collection of vintage salt and pepper shakers.

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Market Street, Celebration, FL (credit: Visit Orlando)

Celebration – 20-minute taxi ride from the OCCC

The “Traditional American Town of Celebration” is exactly as idyllic as you would expect a community developed by Walt Disney to be. The 1950s-inspired neighborhood is a must-see for Disney enthusiasts. Even if you’re not a Disney lover, the town offers many attractions, with most food and shopping located in its Town Center. The town may be uniform in appearance, but the food is diverse enough to serve all tastes. Visit Columbia Restaurant for Cuban and Spanish fare, Ari Sushi for hibachi, or the Town Tavern for a burger and fries.

Lake Nona – 25-minute taxi ride from the OCCC

Lake Nona refers to itself as “a community of and for the future,” and a trip to the town will prove it’s a well-deserved tagline. The community is sprinkled with breath-taking art installations amongst its plentiful shopping and dining options. The Town Center includes brand-name shopping as well as boutique options, while also serving as great spot to sit outside and enjoy the Floridian fall weather. As a town devoted to health and wellness, Lake Nona’s bike share program and lengthy trails are hard to beat. For a unique dining experience, visitors should visit Canvas Restaurant and Market, an American-Latin fusion eatery with an attached market that sells food, drink, household goods, and local artisan crafts.

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Shopping in the city of Winter Park (credit: Visit Orlando)

Winter Park – 35-minute taxi ride from the OCCC

The northern Orlando city of Winter Park is an arts-filled area rich in culture and activity. Visit for the day and peruse the art in the Charles Hosmer Morse Museum, walk through the Mead Botanical Garden, or take a stroll in one of the more than 70 parks. If you’re in for a nautical adventure, there are numerous boat tours that take you through the Lakes of Winter Park. With wide-spanning activities from orchestral concerts to luxury shopping to outdoor music festivals, you can always count on finding something to entertain you.

 

Hurricane Irma and Impact on ASHG 2017 in Orlando

Posted by: Mona Miller, ASHG Executive Director

ASHG’s thoughts and concern go out to all those affected by Hurricane Irma, as well as those recovering from Hurricane Harvey.

As ASHG 2017 will take place in Orlando, Florida, we have received several queries about any impact on the meeting. We are in regular touch with local authorities and convention center staff, who report all facilities should be ready to welcome ASHG attendees as planned, and we will continue to monitor the situation. We encourage our members to consider contributions to the respected aid organizations of their choice to help all those affected throughout the two regions.

See you in Orlando!