Recap: Genomic Medicine at the Population Level Webinar

Posted by: Alissa Ortman, Associate Director of Digital Programs, ASHG

Several large-scale national studies have been launched to collect phenotypic and genomic data on large populations. These studies will form the basis for future initiatives in precision medicine. ASHG and The American Journal of Human Genetics (AJHG) hosted the webinar Genomic Medicine at the Population Level to describe some of the major approaches being used in these studies around the world, and to highlight the progress in assembling the cohort of one million or more participants in the All of Us Research Program in the United States.

AJHG Deputy Editor Sara Cullinan, PhD, moderated the webinar with speakers Kathryn North, AC, representing the Global Alliance for Genomics and Health (GA4GH); and Stephanie Devaney, PhD, Deputy Director of the All of Us Research Program.

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Stephanie Devaney, All of Us Research Program

First, Stephanie shared the overall goals of the All of Us Research Program, including serving as a rich, longitudinal resource, focusing on a diversity of program participants, and building tools and capabilities to support broad diversity of researchers using the data. Stephanie noted, “If we harness the right data and information in partnership with a diverse group of one million of us over many years, we will learn things about human health that will be game-changing.”

The focus on partnership is an important part of All of Us, with a goal to work with participants and meet them where they are, to be able to develop a unique program to answer questions that have previously been out of reach for the genetics and genomics community.

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Kathryn North, Global Alliance for Genomics and Health

Kathryn then spoke about the efforts around integrating genomics data from these types of programs into clinical practice. She noted that millions of samples will need to be collected in order to address some rare and/or complex diseases like cancer. Some of the biggest challenges to this effort are the silo-ing of data by type, disease, country, and institution; and questions about how to approach regulation, consent, and data sharing.

GA4GH is focused on these issues, working to accelerate progress in human health by establishing a common framework of harmonized approaches to enable effective and responsible sharing of genomic and clinical data. The alliance currently has more than 700 partners across 90 countries with a goal of having a virtual cohort of more than 60 million samples by 2025. Programs in the alliance include the All of Us Research Program Stephanie discussed, as well as the Australian Genomics Health Alliance, led by Kathryn.

To learn more about the processes and protocols being used by All of Us, GA4GH, or the Australian Genomics Alliance, watch the full webinar recording.

Thank you to our webinar sponsor, Illumina, whose sequencing and array technologies are fueling advancements in life science research, translational and consumer genomics, and molecular diagnostics. For more information, please visit illumina.com or contact their population genomics team at populationgenomics@illumina.com.

Inside AJHG: A Chat with Heidi Rehm

Posted By: Sarah Ratzel, PhD, Science 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 Heidi Rehm to discuss her paper, “Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.”

Heidi Rehm
Heidi Rehm (photo courtesy of Dr. Rehm).

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

Dr. Rehm: We (Broad Institute and Partners Laboratory for Molecular Medicine) as well as Baylor College of Medicine were funded to provide genomic sequencing and interpretation support for Phase 3 of the eMERGE program.

AJHG: What about this paper most excites you? 

Dr. Rehm: Understanding our genomes will require large scale data sharing, harmonization and analysis across many research and health systems. This paper represents key steps in harmonizing and scaling genomics in the context of real-life healthcare systems.

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

Dr. Rehm: We hope that our work sets the groundwork for more clinical laboratories standardizing the intake of genetic testing orders and output of clinical reports for consumption by electronic health systems which we hope will be embraced as we all try to best integrate genomics into the practice of medicine.

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

Dr. Rehm: Clinical genomics is an exciting field with tremendous growth happening. Come join us!

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

Dr. Rehm: I have two teenagers, so life outside the lab right now is mostly following them around to sports events and college visits. Most weeks I get to play at least one game of ultimate Frisbee in the evening when I’m not traveling. And of course a favorite family activity is watching John Oliver as the only way to survive the current political climate in the U.S.!

Heidi L. Rehm, PhD, FACMG, is Chief Genomics Officer in the Department of Medicine for Massachusetts General Hospital, and Medical Director of the Broad Institute Clinical Research Sequencing Platform. She has been an ASHG member for over 20 years. 

Advancing Research and Privacy: Achievements, Challenges, and Core Principles

Posted By: Les Biesecker, ASHG President

Today, ASHG issued a new Perspective in The American Journal of Human Genetics (AJHG) entitled, “Advancing Research and Privacy: Achievements, Challenges, and Core Principles”. In the Perspective, the ASHG Executive Committee emphasizes the tremendous value of data sharing to advance genetics and genomics research, and the ongoing and unwavering commitment of members of our field to protecting the privacy of research participants. It also articulates core privacy principles that the Society believes should apply to all human genetics and genomics research.

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ASHG’s newest Perspective appeared today in AJHG.

This Perspective is timely given the current global debate on data privacy and the many countries establishing new broad citizen privacy protections, the European General Data Protection Regulation (GDPR) being a notable example. Within these discussions, it is important to emphasize that genetic privacy in publicly funded research is well-regulated and researchers are careful custodians of research participants’ genetic information. It behooves us, both in the U.S. and in other countries, to monitor proposed policies to ensure they balance important consent and privacy protections with the vital health and medical benefits that can come from genetics and genomics research.

The new Perspective notes that, within the U.S., many genetic privacy laws apply only to federally funded research. Increasingly, researchers in our community—both in academia and industry—recognize the potentially useful role of data generated by entities that are not federally funded to pursue shared health goals. We believe these data should be secured using standards equivalent to those for federally-funded entities.

Thus, to enable these data to be collected ethically and benefit all consumers through future improved health and medicine, ASHG believes the core principles described in the Perspective should apply to all genomic research, irrespective of the funding source. The Society was encouraged by recent efforts by a collective group of private companies to develop core privacy principles, and ASHG is eager to foster further dialogue to advance research data privacy policies that advance the shared values of the research community and adhere to informed consent and privacy best practices.

This is the third in the Perspectives series. We look forward to continuing the dialogue on important policy issues at the Annual Meeting, through AJHG, and other venues.

Leslie G. Biesecker, MD, is 2019 President of ASHG. 

Poster Session Tips for a Scientific Meeting

Posted By: Cassie Robertson, 2019 ASHG Program Committee Member, and Ann Klinck, Communications and Marketing Assistant, ASHG

As ASHG 2019’s Program Committee meeting wrapped up, I couldn’t help but think about the importance of poster sessions, for not only presenters but attendees. If you were recently assigned a poster presentation, here are some tips to consider.

Cassie Robertson
Cassie Robertson, 2019 Program Committee Member

Posters serve multiple purposes.

First and foremost, posters are a way to share your research with the community. Practice communicating your research in a quickly digestible way; it’s an invaluable skill that you’ll use for the rest of your career.

Posters are also a tool to connect with colleagues or future collaborators. I’ve made several valuable connections through poster presentations. Be receptive to curious attendees, especially other trainees with overlapping research interests. Research is more fun when you’re a part of a community. And these people can be a valuable resource for both science- and career-related questions down the road. When appropriate, follow-up connections you make during the poster session on social media (this applies to both presenters and attendees).

Tell a story!

Make the progression of your research flow in a succinct way that feels like a story. Science is rarely a linear progression of experiments or analyses. However, to efficiently communicate the significance of your work, it helps to distill it to its essential components. Consider carefully which pieces of the puzzle are critical to understanding your rationale and conclusions. Note that sometimes failed experiments or null results meet this criteria!

Design “Dos and Don’ts”

Do:

  • Think about different viewers when putting together your work. Some will be experts in your area, and some will need the basics!
  • Show how your work relates to the larger field.
  • Emphasize the rationale and sequential logic of your experiments or analyses.
  • Use schematics to cut down on text.
  • Include contact information if you want to receive follow-up questions about your work.

Don’t:

  • List every result you’ve ever generated, or every method or analysis you’ve ever used.
  • Use jargon or abbreviations that aren’t common knowledge.
  • Use small font.
  • Make the written content super dense. You can fill in gaps during the presentation.

Prepare for the presentation.

Don’t memorize your presentation, but do practice using your poster as a visual aide to explain your work. When presenting your poster, consider and be considerate of your audience. Make the people viewing your poster feel welcomed. Face them when speaking and use your poster as a storytelling tool; don’t talk into the poster.

Know that people will filter in and out during your presentation. If someone shows up in the middle of your presentation, signal that they’re welcome to join. They will typically wait for the end to ask about material they missed from the beginning!

Remember that there are different types of attendees in a poster session. Some may be looking for a concise overview of your findings. Others will want to hear the nitty gritty of your work, any problems you had, and how you overcame them. In this scenario, don’t be afraid to go off script. If someone offers an insightful comment, feel free to write it down or ask follow-up question. We’re there to learn from each other.

I tend to be both! Posters are a great way to dive into challenges I’m facing with my own work and connect with people who are thinking about these same problems. I also use them to learn about totally new subject areas since posters are a “low-investment” opportunity to expand your horizons!

Have fun with it!

At the end of the day, poster sessions are fun for both the presenter and the attendee. It’s great to practice your communication skills, and ASHG attendees are typically patient and passionate about human genetics. Practice your presentation before you go, but remember that people know you’re honing a skill.

Cassie Robertson, MS, is a member of the ASHG Program Committee, and a PhD Candidate at the University of Virginia. She has been a member of ASHG since 2016.

Patients over Patents: AMP and ASHG Reaffirm that Genes Should Not be Patentable

Guest Post By: Mary Steele Williams, MNA, MT(ASCP)SM, Executive Director of Association for Molecular Pathology

Earlier this summer, the Association for Molecular Pathology (AMP) spearheaded a sign-on letter with the American Civil Liberties Union (ACLU), ASHG, and a diverse community of approximately 200 medical, scientific, patient advocacy, women’s health, and civil rights organizations.

Mary Steele Williams, Executive Director of Association for Molecular Pathology (AMP), and Dr. Roger Klein, MD, JD, AMP leader, outside the Supreme Court Building, Washington, D.C., during AMP v. Myriad in 2013.” (Provided by AMP)
Mary Steele Williams, Executive Director of Association for Molecular Pathology (AMP), and Dr. Roger Klein, MD, JD, AMP leader, outside the Supreme Court Building, Washington, D.C., during AMP v. Myriad in 2013. (Provided by AMP)

The letter expressed serious concerns with the recent draft proposal to amend Section 101 of the Patent Act, and warned about the significant consequences of allowing DNA and gene-disease associations to be patentable. ASHG and ACMG past and current leadership also sent out a letter to the bill’s sponsors expressing similar concerns. This month, ASHG caught up with Mary Steele Williams, Executive Director of AMP to discuss the history of gene patents and the current legislation.

ASHG: What would it mean for the genetics community if genes could be patented?

Ms. Williams: This proposal would have massive reverberations across all sectors of the genetics community. If naturally-occurring DNA sequences, segments or gene-disease associations become patent-eligible again, there would be serious consequences for research and clinical diagnostics. Legislation that allows the patenting of natural phenomena, laws of nature or abstract ideas would impede innovation by hampering discovery and the development of new technologies – because these aspects of nature cannot be designed or invented around. The clinical application of genetic research, diagnostic tests, and clinical services would be stymied. For example, multi-gene sequencing panels could require licensing arrangements for each gene or gene variant, which would significantly drive up costs for patient care. Even worse, testing could become unavailable altogether if owners refused to license at reasonable (or any) terms.

ASHG: What would it mean for the general public?

Ms. Williams: Patient care would become stifled, as we would return to the days when the basics of nature, our genes, and the mental processes of gene-disease association could be privately owned and restricted in access. Patent holders could choose whether a diagnostic test could be developed and by whom, and even influence its overall design. This could result in a test being offered by a single entity, an outdated version of a test being the only one available, or not being available at all. This was increasingly the norm prior to the 2013 Association for Molecular Pathology v Myriad Genetics ruling. Because gene sequences are not patent-eligible, a lot of amazing research and progress in clinical care is able to evolve and thrive, and it is critical that we protect this innovation.

ASHG: Tell us about the 2013 AMP v. Myriad ruling and its effects.

Ms. Williams: For over 150 years, the Supreme Court has held that laws of nature, natural phenomena, and abstract ideas are not patent-eligible under Section 101 of the Patent Act. In the landmark 2013 AMP v. Myriad  case, a unanimous Supreme Court ruled in favor of the plaintiffs (AMP, et al.) and determined that a “naturally occurring DNA segment is a product of nature and not patent-eligible merely because it has been isolated.” The Court concluded that such patents would lock up genetic information and prevent others from scientific and medical work.

The Court’s 2013 ruling was the culmination of many years of deep concern within the medical field, and was celebrated across the greater scientific community who fought hard for the chance to be heard. The positive impact was immediate, and molecular testing is now part of the standard of care. On the day of the AMP v. Myriad decision, five laboratories announced their intention to develop BRCA1/2 tests. Since then, the clinical use of genetic tests and genetic research has continued to thrive. We are now approaching 10,000 multi-gene panel tests on the market with an average of 14 new molecular tests added each day.

ASHG: Why and how has this issue re-emerged?

Ms. Williams: Earlier this year, following a series of closed roundtable discussions, Senators Tillis (R-NC) and Coons (D-DE) and Representatives Collins (R-GA), Johnson (D-GA), and Stivers (R-OH) released draft legislation that proposed to radically alter Section 101 of the Patent Act. The draft language would shift the focus of Section 101 to favor those seeking patents by allowing patents on anything found to be useful. It explicitly indicates  that judicially-created exceptions for abstract ideas, laws of nature, or natural phenomena cannot be used to determine patent eligibility. Essentially, the draft proposes to abrogate all court decisions that led to or supported those exceptions, including Mayo Collaborative Servs. v. Prometheus (2012), AMP v. Myriad (2013), and Alice Corp. v. CLS Bank (2014).

ASHG: What is AMP doing in response?

Ms. Williams: Since the draft was released, the sponsors of the legislation have stated that it was not their intent to allow patenting of “DNA within the human body.” However, this argument does not alleviate AMP’s concerns. The AMP v. Myriad decision was so important because it specifically determined that naturally occurring DNA sequences or segments are products of nature, and are not patent-eligible merely because they had been isolated.

AMP remains very concerned about the actual impact the draft legislation would have and the consequences of this evolving proposal, regardless of stated intent. The potential effects this legislation could have on research and patient care would be enormous and damaging. AMP anticipates that the next draft of the legislative proposal will be released sometime in the next few months. In the meantime, AMP continues to work diligently with aligned stakeholders, including ASHG, to lead efforts to educate others about this issue and advocate for naturally-occurring DNA sequences or segments and gene-disease associations to remain patent-ineligible.

Today, AMP is prepared to win this fight again. In this age of precision medicine, it is more important than ever to maintain the boundaries between nature and technology, so that we can continue to develop innovative diagnostics for devastating diseases and provide access to the best medical care. Since the Supreme Court’s 2013 decision, multiplex gene panels that feature dozens of genes in a single test are now routine practice. Advances such as this would have been difficult, if not impossible, without the Court’s decision. We must keep the focus on patients.

To stay up-to-date on this issue and more, be sure to subscribe to ASHG’s monthly policy and advocacy email updates.

Fill Your Next Opening on the ASHG Career Center

Posted By: Evelyn Mantegani, Public Education & Engagement Specialist, ASHG

ASHG is happy to provide genetics and genomics employers with the ASHG Career Center. This new and improved online job board provides a wide range of opportunities to recruit and attract first-rate talent with a minimum expenditure of time and resources. Easily browse the resumes and post your job openings for a small fee (ASHG members get a discount!).

(On the hunt for your next position? Check out our tips for job seekers.)

Have you wondered what other features for employers are offered? Here’s how to use the Career Center to most effectively fill your next position and find your future colleague.

Save as an ASHG Member

  • If you’re a current ASHG member, you’ll save at least $200 on all job posting rates. Join or renew today!

Effectively Convey the Opportunity

  • Choose from six different job posting options – Posting options include bulk posts and varying lengths to post.
  • Save time creating your post – Use the provided form to make it easy for you to enter and update your job postings, which will get your posting out to candidates faster.
  • Create a video – For an added fee, create professional, 60-second videos to provide key information, brand identification, and a call to action for each of your postings.

Search for and Find Candidates

  • Easily collect applications – Enter your corporate website to the posting form to receive all applications directly.
  • Contact candidates directly – You can reach out to candidates, mark them as interested, forward a candidate to a colleague, or print a job profile directly from the site.
  • Create resume search alerts – Set up a resume search and you’ll receive an email when the right candidate becomes available.
  • Easy outreach to candidates – If a job seeker has set up a job alert, the site will automatically contact him or her if your job is a match. Make sure your job titles and descriptions are as complete as possible to enable this feature.

Maximize Your Reach

  • Become a Featured Employer –This will increase your exposure through enhancing your job posting, banner ads, and logo visibility. The Premium Employer Page also includes branding tips.
  • Use your data to boost your posting – Get detailed information about your job postings, such as views, number of applications, and how any times your job was emailed directly to a job seeker via an alert.
  • Access to the Engineering & Science Career Network – Posting your job on our page allows your opening to be listed and viewed nationwide on relevant Engineering and Science partner Career Centers.

A Genetic Counselor’s Guide to ASHG 2019

Posted By: Dawn Allain, Member, 2019 Program Committee

As patients gain interest in understanding the impact of genetics on health, Genetic Counselors are becoming increasingly necessary in medical genetics and genomics practice. As a genetic counselor, I’m proud to serve on the ASHG Program Committee, and help select and shape Annual Meeting content to serve our genetic counselor members and attendees.

ASHG 2019 is the meeting for genetic counselors, and I’m excited to tell you why!

Dawn Allain at the 2019 Program Committee Meeting
Dawn Allain (pink shirt) and Program Committee colleagues gathered in July to assemble the schedule for ASHG 2019.

Cutting-edge Scientific Content

The value of attending ASHG starts with the scientific content. Exposure to the latest findings gives counselors the opportunity to engage and learn about new science before it makes its way to clinical care. This allows us to think about how it may be applied in a clinical or laboratory setting and consider impact on patient outcomes. At the ASHG meeting, clinicians and scientists can exchange observations and ideas that can lead to future research collaborators.

Who Should Attend?

Since ASHG covers a wide assortment of information, anyone in the field would benefit. But specifically:

  • Genetic counselors with translation and industry roles would definitely benefit from access to basic research and clinical research findings, and interactions with the scientists and exhibiting companies involved.
  • The Meeting is also great for genetic counselors who are educators, such as program directors or anyone who teaches.
  • Finally, ASHG is great for new genetic counselors, so they can understand the interprofessional interactions that happen in genetics and genomics.

What Sessions to Attend?

If you’re a genetic counselor unsure where to start at ASHG, I’d say to start by attending the invited plenary sessions and workshops. Practicing counselors and educators may find the platform session, Strategies to Improve Genetic Counseling Practice and Education a stimulating series of talks, and I think research counselors will find the session, Research Participants’ Experiences and Preferences interesting.

This year’s joint session with National Society of Genetic Counselors (NSGC), called Achieving Successful Collaborations in a Research Setting, is perfect for counselors who are interested in becoming more involved in collaborative research. This should be an informative session and a great networking opportunity. I also recommend Clinical Spotlight: Novel Insights into the Genetics of Reproduction: Precision Medicine and Personalized Assisted Reproductive Technologies, and Clinical Spotlight: Basic Research to Clinical Implementation: A Multidisciplinary Overview of the Current State and Future Directions of Clinical Pharmacogenomic Testing.

Industry genetic counselors should check out Value Assessment of Genomic Testing from Diverse Stakeholder Perspectives in Health Services, and education-focused counselors should stop in on Addressing the Genomics Literacy Gap in Society: A Conversation about the How, What, Why, and Impact of Modern Educational Frameworks.

All genetic counselors can benefit from the session DNA in the Public Sphere: How Genomic Information is Used and Protected Outside of Research and Medicine. Finally, the presidential symposium is always thought provoking, and this year’s will be as well. The topic is genetic exceptionalism.

Networking Strategies for Genetic Counselors

Make sure you pick up your genetic counselor ribbon from ASHG Central in the Exhibit & Poster Hall! This helps other attendees identify you more quickly. Talk to poster presenters and make use of the Reception: Career Paths in Genetics. If you like to network online, you can also use #ASHG19 to find other attendees.

A longtime member of the Society, Dawn Allain, MS, CGC, is a member of the ASHG Program Committee and an Associate Professor in Internal Medicine at The Ohio State University.