Presenting: ASHG 2018 Award Winners

Posted By: Staff

We are pleased to announce this year’s ASHG awardees! Awards will be presented at the ASHG 2018 Annual Meeting this October in San Diego. Thank you to all the nominators, and congratulations to our recipients!

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For details on the awards process, please see our awards page. To view when each award will be presented, see the meeting schedule of events.

Returning Individual Research Results to Participants: New NASEM Report

Posted By: Jillian Galloway, MS, Science Policy Analyst, ASHG

As you may recall, last year, the National Academies of Sciences, Engineering, and Medicine (NASEM) was asked by the Centers for Medicare & Medicaid Services (CMS), the Food and Drug Administration (FDA), and the National Institutes of Health (NIH) to evaluate the many issues and perspectives surrounding ‘the return of individual-specific research results generated in research laboratories’.

In recent years, there has been significant discussion among scientists about the return of results to research participants. As geneticists and genomicists discover information of potential clinical benefit to participants, they are considering when it is appropriate to share such information with participants.

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NASEM Report: Returning Individual Research Results to Participants: Guidance for a New Research Paradigm

In keeping with the trend towards greater participant inclusion, the recently launched All of Us program promises to share individual-level data with participants. By signaling greater involvement in the research process and dubbing All of Us participants as ‘partners’, NIH hopes to make participation more valuable and equitable.

Given this context, the NASEM committee was charged with evaluating the ethical, social, regulatory, and operational issues associated with returning results to participants. With many members involved in such research, ASHG submitted comments to the committee that focused on the complexity of returning individual-specific results of genomics research, outlining areas of consensus and contention within the genomics community.

The NASEM committee’s report, released last month, aligns with ASHG’s comments in some ways as well as revealing meaningful differences of perspective. For example, ASHG recommended that research funding include financial support for returning results to participants to make the task more viable. However, the NASEM report calls for research institutions and funding agencies to “develop and provide access to the resources and infrastructure needed to ensure that investigators conducting testing…can meet the necessary standards for quality”. Overall, NASEM’s report emphasizes addressing the quality of results over the burden to researchers in operationalizing their return.

The committee recommends placing greater responsibility on researchers returning individual-specific research results. It also proposes several guiding principles for researchers: chiefly, that the return of results be considered from the inception of the study, through its design and development, and that laboratories that plan to return results adopt high-quality standards.

However, the committee acknowledges that the diversity in size, funding, and scale of research laboratories makes CLIA certification, the clinically required regulation for laboratories issuing any test results to individuals, at times inappropriate or unnecessary for returning results not intended to inform clinical care. To address the financial, logistical, and operational hurdles of returning high-quality laboratory analyses with confidence, the committee suggests the creation of an accepted quality management system for research laboratories as an alternative to CLIA certification.

The NASEM report also outlines the many scenarios and variables determining whether laboratory quality is sufficient for investigators to return individual research results. In addition, the committee calls for the continued assessment of participant preferences and values, echoing ASHG’s comments.

In summary, while the committee’s recommendations may increase the frequency of returning results, and thereby enlarge the demands upon researchers, they are in keeping with the general scientific move  towards increasing researcher responsibility for the respect, trust, and needs of research participants.

ASHG will continue to monitor the activities of the various agencies to see how and to what extent they will adopt the recommendations set forth by the NASEM committee.

Jillian Galloway, MS, is a Science Policy Analyst at ASHG. For more information on ASHG’s policy priorities and activities, visit the Policy & Advocacy website. 

Inside AJHG: A Chat with Amy O’Connell

Posted by: Sara Cullinan, PhD, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Amy O’Connell, first author of ‘Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.’

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Amy O’Connell (front row, left) and her lab. (courtesy Dr. O’Connell)

AJHG: What prompted you to start working on this project?

Amy: My work in Dr. Agrawal’s genetics lab focuses on confirming the functional consequences of novel mutations identified by whole exome sequencing. We identified individuals from two families who harbor homozygous nonsense WNT2B mutations and display similar severe congenital diarrhea phenotypes, suggesting this is an important gene for gut physiology. It seemed important to try and get to the bottom of it, especially since what we observed differed from what mouse studies concluded, where knocking out Wnt2b revealed no gut phenotype.

AJHG: What about this paper/project most excites you?

Amy: I am an immunologist by training, so I am excited about the potential connections between inflammatory triggers and Wnt2b. Our paper begins to explore this relationship by showing that TLR4 expression is altered in the absence of Wnt2b, but I think there is more to this story and I’m continuing to work on it.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Amy: To me, this project underscores the importance of personalized medicine and genomics approaches. Wnts are a very important family of molecules, and WNT2B is highly expressed in the intestine, but until now it has been somewhat neglected, viewed as being non-essential, and thought to be fully redundant with other Wnt pathway molecules. That patients with loss of Wnt2b are so severely affected clearly suggests otherwise. Taking what we’ve learned from three patients will have implications for our entire understanding of the regulation of intestinal stem cells, a good reminder that translational science works in both directions.

AJHG: What advice do you have for trainees/young scientists?

Amy: First of all, be wary of free advice. It’s not usually about the advisee. Given that, one of the best lessons I’ve learned is that it is okay to change your plans if you find that what excites you in science is not what you started off trying to do or become.

AJHG: And for fun, tell us something about your life outside of the lab.

Amy: I have a 2-year old and two miniature schnauzers, so I get to do a lot of playing when I’m not at work. Yesterday I got to be a ballerina, ride to the “pizza store” on a “horse”, and build a doggy castle. It’s terrific exercise for the imagination!

Amy O’Connell, MD, PhD is a Neonatologist at Boston Children’s Hospital, and an instructor at Harvard Medical School. She has been an ASHG member since 2018. You can find her on Twitter at @PostCallScience.

Attending Scientific Meetings on a Budget

Posted By: Ann Klinck, Communications & Marketing Assistant; and Amanda Olsen, Meetings Assistant, ASHG

The ASHG 2018 Annual Meeting will be here before you know it! Sessions are being crafted, workshops organized, exhibits developed, and people from the around the world are preparing to gather in San Diego from October 16 –20 to discuss the newest, most exciting research in human genetics. In this three-part blog series, we’re hoping to answer some of the many questions that come up while planning to attend a conference.

This month, we’ll tackle how to make the trip affordable. Look out for future posts on how to navigate a meeting alone and how to make the most of your time there.

Ask Your Institution

Some institutions build professional development into their annual budget, so don’t be afraid to ask. Before going to your department head, do a little research and prepare reasons why this meeting will benefit you and your institution. Use our Return on Investment (ROI) Toolkit to aid your pitch. Think about which sessions you would attend, the value of networking, and the opportunity to learn about new products. The Toolkit is also useful for tracking the sessions you attended to help retain information and act on it when you return.

Start Early

According to a recent Forbes article, 70 days prior to travel is the best time to purchase an airline ticket – during this window, fares average within 5% of their lowest price. As of today, we are 83 days away from the meeting, so now is the time to look. ASHG provides reduced hotel rates through our official housing partner, onPeak. Make your reservation early, as the hotels with lower rates fill up quickly. Check with colleagues if they will be attending and consider sharing a room to cut down costs.

Limit Personal Spending

Know what food might be complimentary: get a hotel that offers breakfast, drink the coffee at the meeting. The Convention Center is in a walkable area with many shops and restaurants, so we encourage you to explore on foot and use mass transportation to keep local travel costs low.

Awards & Membership

ASHG offers awards that can help defer meeting costs, such as the Developing Country Awards, and the ASHG/FASEB Mentored Travel Awards Program for Underrepresented Trainees. To be considered for these awards, you must submit an abstract in early June. Missed out this year? Add a reminder to your calendar if you’re considering attending ASHG 2019. You also get a discount on registration if you register before October 15 and if you’re a current member, so join or renew before registering.

Hope to see you in San Diego!

Ann Klinck is Communications & Marketing Assistant and Amanda Olsen is Meetings Assistant at ASHG. For more information on ASHG 2018, check out the 2018 meeting website.

Starting Your Postdoc Hunt: When and How to Prepare

Posted By: Rohit Thakur, Marie Sklodowska-Curie research fellow, University of Leeds, United Kingdom

“What are your plans after PhD”? – one of the most daunting and stressful questions often asked to graduate students. For many pursuing a career in academia, the obvious next step is a postdoctoral position.

The ideal time to start applying for postdocs is one year away from your graduation. At the beginning of the final year of my PhD, I made a list of institutes to explore. Based on this list, I directly contacted the principal investigators (PIs) whose work I found really exciting. After hearing back from them, I arranged a meeting with them to learn about their research. This provided a wonderful opportunity to network and establish professional relationships with them.

I also found the Conference to Career chat sessions with field experts extremely useful. At one of the sessions, Prof. Fred Winston shared very useful tips on setting criteria for choosing a postdoc lab, such as quality of mentorship, success rate of previous postdocs in academia, and publication rate of the lab. If you start early you are more likely to end up with multiple offers by the time you finish your PhD.

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Mr. Thakur discusses his poster presentation with Martin Lauss, PhD, Lund University, at the 2017 Joint GenoMEL/BioGenoMEL/MELGEN Scientific Meeting (courtesy Mr. Thakur)

Don’t Underestimate Geography

Starting a postdoc hunt can be overwhelming, given the numerous places a graduate student can potentially apply to. It can become easier if you can think about where (geographically) you would like to do a postdoc. After identifying a region, you just have to locate the productive labs that do the science that you find exciting.

Network, Network, Network!

If you are going to a conference, write to PIs beforehand whose work you find interesting. Network with them by inviting them to your poster and follow up with them afterward.

Start Your Application Early

Visit lab websites of PIs who you are interested in working with and pay close attention to the lab’s current interests required skills for postdocs. Use this time to develop a skill that will increase your visibility as a potential candidate. Write PIs an informal query about potential postdoc positions to PIs, including your CV and cover letter, and get your material proofread by your mentor and colleagues.

Get Your PhD Research Paper Ready to Submit

Showcasing your PhD research is a great way to convince future PIs about your skills and your ability to lead a project independently. If you have a paper ready to be submitted to a journal, get its preprint out on bioRxiv and mention it on your CV.

Seek Advice and Feedback

If you are contacting a field expert, openly ask for feedback and advice about your current research project. This is a great way to interact and establish professional relationships with PIs.

Finally, get out of your comfort zone. Aim higher but be realistic. Keep applying until you land an offer from your dream lab. I would also recommend attending the ASHG/JAX Conference to Career Program for honing your networking skills.

Acknowledgments: I am highly thankful to my supervisors Jenny Barrett, PhD; Julia Newton-Bishop, MD, MBChB, FMedSci; Jeremie Nsengimana, PhD; and Göran Jönsson, PhD, for their exceptional mentorship; and European Commission Horizon 2020 program for funding my PhD.

Rohit Thakur, B. Tech, is a PhD Candidate at the University of Leeds. He has been an ASHG member since 2017.

 

Bringing Us Closer to Understanding Health and Disease at an Individual Level

Guest Post: Ed Ramos, PhD, All of Us Research Program

The National Institutes of Health supports groundbreaking research and biomedical studies that seek to enhance and improve health. On May 6, it took a big step in pushing the envelope further by launching the All of Us Research Program.

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Edward Ramos, PhD, All of Us Research Program, NIH (courtesy Dr. Ramos)

Currently, people joining the program will have the choice to answer questions about their demographics, overall health, and lifestyle behaviors. Participants will also be asked, but not required, to authorize access to their electronic health record data, which is a significant source of clinical information about a person’s health history. We have established an expanding network of clinic sites around the country where some participants will be invited to give physical measurements and biospecimens for future assays and research. The program plans to begin genotyping and sequencing participant DNA next year.

All this data will be stripped of obvious identifiers and made available to researchers, who could range from students and citizen scientists to established investigators. They’ll have to apply to access the information and abide by a data use agreement. Also, participants will be able to access their own data and see how researchers are using it. All of Us is building the data resource now and expects it to be open for research in 2019. The resource should grow quickly as data from electronic health records, genetic analyses, wearables, and other sources are added.

The All of Us Research Program recognizes that the information participants are providing is personal and sensitive, and security and privacy are of the highest importance to the program. The program is working hard to establish and maintain a secure infrastructure that supports a participant-focused recruitment and enrollment process. For example, the program has implemented security features that meet rigorous federal standards for protecting and securing data.

So what is my role in all of this? As someone who has spent several years exploring human genetic variation as it relates to disease and drug response, I would love to be on the receiving end of all this data! I play an equally exciting part in All of Us as the program director of The Participant Center, which manages overall operations for All of Us’s “direct volunteer” enrollment across the country. The Participant Center has established a phenomenal set of national partners, such as Walgreens, Blue Cross Blue Shield, WebMd, and Fitbit. These partners are helping expand our national reach for clinic sites, developing national and local marketing and outreach strategies, and exploring data collection through various digital health technologies.

While my research interests align with All of Us’s scientific vision, I always find myself most attracted to this program for personal reasons. I lost my father to pulmonary fibrosis, helped my mother control her diabetes, and have stayed up many nights trying to alleviate my son’s asthma. Perhaps it’s safe to say that many of us, maybe even all of us, have similar stories. I’m honored to be a part of something that could potentially bring us one step closer to better understanding health and disease at an individual level.

Edward Ramos, PhD, is a member of the All of Us Research Program at the National Institutes of Health. He has a PhD in Molecular Biotechnology and was the 2006-2007 ASHG-NHGRI Genetics & Public Policy Fellow.

DNA Day Wins ASAE Power of A Award

Posted By: Mona Miller, ASHG Executive Director

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We are pleased to share that our National DNA Day Essay Contest has received an ASAE Power of A Silver Award. These awards recognize a select number of organizations annually that distinguish themselves with innovative, effective, and broad-reaching programs that positively impact the United States and the world.

ASHG’s DNA Day Essay Contest began in 2005 and is open to students in grades 9-12 around the world. Participants are encouraged to work with their teacher to write a 750-word essay responding to the year’s question. The question is selected with the goal of pushing students to examine, question, and reflect on important concepts in genetics, which are not normally covered in a typical high school biology curriculum. The goal of the question is for students to expand their knowledge of human genetics and to use evidence-based critical thinking in their response.

The contest has grown from around 300 essay submissions in its first years to over a thousand submissions in 2018. This year, ASHG received essays from 43 U.S. states and 23 countries who explored how genetics is informing, shaping, and changing our lives, after which more than 350 ASHG members evaluated the results for accuracy, creativity, and writing.

The contest also engages our members, who act as reviewers and judges for the contest, in an activity that ties them to public outreach and creating the next generation of geneticists. Each year, around 500 members volunteer for this rewarding and worthwhile experience.

The DNA Day Essay Contest has become a signature of ASHG and we are proud of the high number of participants and member volunteers, the satisfaction of our volunteers, and the chance to expand students’ education of human genetics.  We are thrilled to have been recognized for this long-standing program that is an embodiment of ASHG engagement and creativity.

A big thank you to all teachers, students, and member volunteers who have participated over the years!