ASHG Partners with ACMG for Congressional Briefing: The Undiagnosed Diseases Network

Posted By: Jil Staszewski, Policy & Advocacy Manager, ASHG

ASHG and the American College of Medical Genetics and Genomics (ACMG) have partnered together to launch a series of congressional briefings on Capitol Hill to educate Congress on the importance of genetics and genomics research and medicine. Congressional briefings provide an opportunity for organizations to engage members of Congress and their staff on a particular topic or issue.

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L-R: Katie Murray, a staffer in briefing sponsor Rep. Loebsack’s office; and speakers John Phillips III, MD; Bill Gahl, MD, PhD; Gail Jarvik, MD, PhD; and Danny Miller.

For genetics and genomics, it is important that members of Congress and their staff understand the value that sustained federal funding holds for genetics and genomics research, and its translation to clinical applications that benefit patients and research institutions nationwide.

On Thursday, September 26, the initial briefing in this series was held, titled, “The Undiagnosed Diseases Network (UDN): The Interface of Research and Clinical Care to Solve Medical Mysteries,” sponsored by Representative Dave Loebsack (D-IA). Gail Jarvik, MD, PhD, ASHG Secretary and Co-Principal Investigator at the University of Washington UDN, moderated the briefing.

In her opening remarks, Dr. Jarvik noted the value of this ASHG-ACMG partnership and the significance of highlighting the UDN, stating, “The expertise of these two organizations and their members spans the facet of genetics from basic research to clinical practice. Just as research informs clinical practice, information learned in the clinic also informs research. Not only is the Undiagnosed Diseases Network an excellent example of this, but it is also a great example of how federal funding for such a program can broadly impact clinical care and research beyond the program itself.”

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Dr. Gahl (middle) and Dr. Jarvik (right) discuss the importance of federal funding for clinical care and research.

Additional speakers included Bill Gahl, MD, PhD, Director of the Undiagnosed Diseases Program at NHGRI; John Phillips, III, MD, Co-Principal Investigator at the Vanderbilt University UDN; and Danny Miller, the father of two patients who were diagnosed through the Stanford University UDN.

Dr. Gahl spoke about the history of how his work with the Undiagnosed Diseases Program eventually evolved into the NIH-funded Undiagnosed Diseases Network in 2013. Dr. Phillips went into detail about some of the research and diagnoses he has been able to complete through the UDN, and how the UDN allows for a unique team-based approach in identifying undiagnosed diseases. Danny Miller gave a passionate testament of how the UDN has benefited the lives of his two children, and why continued, increased federal funding is so vital in helping other patients with undiagnosed diseases and their families nationwide.

If you are interested in hearing more about the speakers’ stories, stay tuned! A video of the briefing presentations will be made available in the near future.

Have an idea about a future briefing topic? Let ASHG know at policy@ashg.org. To stay up-to-date on genetics and genomics policy issues, subscribe to our monthly policy and advocacy email updates.

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.

Take Action this August Recess: Meet Your Elected Officials

Posted By: Jil Staszewski, Policy and Advocacy Manager

Starting this week, U.S. elected officials in Washington, DC will go into August recess. While Capitol Hill will grow quieter during the break, this doesn’t mean our advocacy activity should stop. In fact, this recess creates a unique opportunity for you as a constituent to help keep the momentum going right at home.

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ASHG members Lauren Tindale and Burcu Darst, and FASEB President Hannah Carey, met with Senator Tammy Baldwin in 2018.

As you may be aware, ASHG, along with FASEB, the Ad Hoc Group for Medical Research, and the rest of the biomedical research community has been busy advocating for a $41.6 billion budget for the NIH for Fiscal Year (FY) 2020 – a $2.5 billion increase from FY 2019. Last month, the House passed a $41.1 billion budget, and after the August recess, the Senate will begin developing its own legislation.

As your Members of Congress travel back to their home state or district offices for the remainder of the summer, scheduling a face-to-face meeting is a powerful way to establish a connection and advocate for your profession. Your personal story and achievements help your legislator understand the significance of your work in the state or district they represent, and why supporting NIH funding is crucial.

Not sure where to start? Here is a step-by-step guide (PDF version).

  1. Request the meeting.
    • Find your elected officials and their contact information using the House and Senate.
    • Email the legislator using the contact form or email address provided. In your email, be sure to confirm that you are a constituent, mention which institution you are from, and briefly describe the purpose of the meeting. Use the below template letter as a guide.
    • If you do not hear back within a week, you may follow up with the staff, as they receive many requests. Email again, and call the office and speak with the scheduler if necessary.

Dear Senator/Representative ______________:

My name is ____ and I am a geneticist and your constituent. I am writing to request a meeting with you and your staff in your district office to discuss the value of robust funding for the National Institutes of Health (NIH) and its significance for my work. I am available to meet on (date). Please let me know a time that would work best for you.

Thank you so much for your time, and I look forward to meeting with you to discuss this important issue. You may contact me at (email/phone #).        

Sincerely,

[Your name, institution, address, and contact information]

  1. Once confirmed, prepare for the meeting.
    • The purpose of the meeting is to educate your Member of Congress about the importance of the field, and the value of federal funding and its impact on your research. Bring a handout to leave with the legislator and read through the material beforehand.
    • Read up on the legislator you are meeting with. Having a shared personal connection can help develop a rapport and make a lasting impression.
    • Develop a list of questions the legislator might ask and how you can answer them.
    • Let ASHG know the date of your meeting and who you are meeting with.
  2. Attend the meeting.
    • Describe your job using layman’s terms, and connecting it to the legislator’s constituents.
    • Thank the legislator for their support on past relevant issues.
    • Explain why the legislator’s support of increased NIH funding would be valuable for your work, and that this year, the research community is asking for $41.6 billion.
    • Answer any questions the legislator may have and ask how else you can be of assistance.
    • Take pictures with the legislator and their staff!
    • Leave behind materials, including your business card, and ask for theirs and their staff’s.
    • Invite the Member to visit your lab.
  3. Follow up.
    • Send a follow-up email shortly after the visit, thanking the legislator and staffer for their time.
    • Let ASHG policy staff know how the meeting went! Send us an email at policy@ashg.org. We may ask you to share your experience to help other ASHG advocates.

We look forward to hearing your stories, and are happy to assist with any questions  – just email policy@ashg.org. Thank you for your continued advocacy.

Why is a 2011 Budget Relevant to Science Funding Today?

Guest Post By: Mary Woolley, President and CEO, Research!America

Each year, Congress develops a federal budget, which establishes funding for each federal department and agency for the following fiscal year. This determines how much funding agencies like the NIH have to support scientific research through grants, as well as in their own labs.

Budget Caps Threaten Research Funding

A federal law, the 2011 Budget Control Act (BCA), placed stifling caps on spending that have threatened funding for the NIH and other agencies. These caps are blunt tools that batter crucial national priorities, compromising security, prosperity, and progress.

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Research!America and partner organizations, including ASHG, are running ads urging Congress to #RaisetheCaps. (courtesy Research!America)

Why It’s Time to #RaisetheCaps

Because the caps established by the BCA are so low, Congress has raised them repeatedly to allow sufficient funding for federal agencies. Unfortunately, those “caps deals” were temporary. Unless Congress acts again, we’re looking at a cut of approximately $55 billion to non-defense discretionary spending in the next fiscal year, which guarantees trouble. If the cuts are distributed evenly or no budget deal is reached, then NIH and every other public health and science agency faces a cut of about 10%. In the case of NIH, that would mean a cut of as much as $4 billion.

Achieving another agreement to raise the budget caps is crucial, time-sensitive, and not by any means a sure thing.

You don’t need a laundry list of the negative consequences on science that these cuts would engender. Suffice it to say that promising research will be choked off, fewer new grants will be funded, and medical and other scientific progress will slow dramatically. All this during a time of unprecedented scientific opportunity, when other nations are already nipping at our heels and would surely attract more and more young scientists if the U.S. signaled lack of support. Starving research is not the solution to what ails us — literally or economically.

Your voices, your story, and your expertise are needed now. Tell your friends, colleagues, and Congressional representatives why medical progress, public health progress, and science itself are crucial, and why federal funding for these priorities is so important.

Research!America, supported by partner organizations including ASHG, has created resources for you to advocate for federal research funding. Additional resources and tools to urge your representatives to #RaisetheCaps are available on ASHG’s Advocacy Center.

 

Six Months in as an Education Fellow: My Experience So Far

Posted by: Dyanna Christopher, MPH, ASHG/NHGRI Genetics Education & Engagement Fellow

My first few months as a Genetics Education & Engagement Fellow, which have included rotations at the National Human Genome Research Institute (NHGRI) and ASHG, have been full of lessons, new experiences, and opportunities to increase my skill set.

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Dyanna Christopher, MPH, ASHG/NHGRI Genetics Education & Engagement Fellow (courtesy Ms. Christopher)

At NHGRI, I’ve learned more about government agencies and how they work. I’ve begun to develop partnerships across the National Institutes of Health (NIH) and the surrounding community, and have seen that the NIH is a collaborative environment, and how small the genetics community is in the DC area. At ASHG, I have discovered some of the roles of scientific societies and the importance of member relationships. I have seen the behind-the-scenes work required to build a community and plan valuable events. I’ve had the opportunity to participate in and even spearhead events helping to increase genetic understanding and health literacy in different communities.

My major project while at NHGRI was the NBC4 Health and Fitness Expo. This project required immense collaboration and preparation. Though weekend snow covered the streets of the district, we were still able to educate and engage over 200 community members and talk to them about genetic risk assessment, direct-to-consumer genetics, basic genetics and genomics, and some of the things that happen at NHGRI. Seeing the public converse about how genetic health history impacts their lives was a highlight for me. It’s so important to show those who may not have a vested interest in science how it impacts them and affects their day-to-day lives.

This was not my only project that focused on facilitating and increasing genetics education and engagement. Shortly after starting my rotation at ASHG, I was able to help find and develop tools for ASHG members that aid them in answering questions about genetics and genomics from nonscientific communities. ASHG is a trusted source for up-to-date genetics information and my hope is that members of ASHG can locate resources that help them answer and respond to public inquiries.

I have also had the opportunity to speak with budding scientists through an event organized by the Johns Hopkins Center for Talented Youth program. I served as a panelist and talked to gifted high school students about my career and educational experiences in the field. This event allowed me to speak on the importance of genetics, genomics, and health literacy, and to bring awareness to the importance of understanding these topics. It was great to see so many young people excited about science and the influx of different career options available to budding scientists. I’ve also had the opportunity to help increase diversity at NHGRI by helping to find and recruit committee members from diverse populations who have a vested interest in genetics and genomics.

The fellowship is just getting started. I know that there will be even more opportunities to learn, serve, and develop as a scientist and educator.

Interested in the intersection of genetics with education and public engagement? Consider applying for the ASHG/NHGRI Genetics Education & Engagement Fellowship!  Applications are open through April 19, 2019.

Life as a Genetics & Public Policy Fellow: Hello from the Hill!

Posted By: Eve Granatosky, PhD, ASHG/NHGRI Genetics & Public Policy Fellow

Around this time last year, I was putting the finishing touches on my dissertation and trying to coordinate a date for my thesis defense. This week, I helped prepare a United States Senator for an event on drug pricing and met with constituent groups on issues ranging from cancer research to school nutrition. This dramatic and exciting shift was only possible because of the ASHG/NHGRI Genetics & Public Policy Fellowship.

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Checking out the best view on the Hill from the Speaker’s Balcony. (courtesy Dr. Granatosky)

Throughout most of my time in graduate school, I knew that I wanted to pursue a career in science policy, and was looking for an opportunity that would allow me to apply my scientific expertise in rare diseases and preclinical drug discovery in a policy setting. The Genetics & Public Policy Fellowship was a great fit with my background and interest in exploring multiple spaces within the policy world. So far, I’ve had the chance to work in both the executive and legislative branches of the U.S. government, and later this year I’ll complete my fellowship with the Policy and Advocacy team at ASHG. I’m currently about six months into my fellowship, and am happy to report that the experience so far has been just as excellent as I had hoped.

Budgetary and Strategic Planning at NHGRI

I started my fellowship in September within the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute (NHGRI). Right away, I got to jump into several projects the branch was working on, including drafting the Institute’s Fiscal Year 2020 Congressional Budget Justification, an important step in NHGRI’s being funded each year. This was a great way to learn about many of the research projects funded by NHGRI and write about them in a way that was concise, engaging, and accessible. I also helped organize feedback from the wider genomics community that was collected as part of NHGRI’s ongoing strategic planning process.

A highlight of this rotation was presenting a poster at the annual NHGRI Symposium. My PPAB colleagues and I described some recent studies on public perceptions of the use of genetic data by law enforcement (particularly for solving cold cases) and discussed potential policy options to address genetic privacy. After surveying symposium participants on their own views on this topic, we learned that while the NHGRI community was mostly supportive of the use of genetic data for law enforcement for solving crimes, they overall reported having more concerns about their genetic privacy than do members of the general public who have been surveyed.

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PPAB’s Devona Perrineau and I getting ready to talk about genetic privacy and poll the symposium attendees. (courtesy Dr. Granatosky)

A Wide Range of Health and Education Topics on the Hill

This January, I started my second fellowship rotation, in the office of Senator Richard Blumenthal from my home state of Connecticut. I work with two other staffers on the health and education portfolios, including issues related to biomedical research. Within the health space, I’ve worked on a wide range of issues, including antibiotic stewardship, e-cigarettes, prescription drugs, and dietary supplements. In education, I’m working on issues related to social and emotional learning and oversight of predatory colleges and universities.

So far, I’ve been involved in both long-term projects in these areas as well as the day-to-day business of the office. I really enjoy getting to meet with Connecticut constituents to discuss their priorities and concerns – I feel like I learn something new every meeting and it’s fascinating to get to hear about so many different topics.

Another major part of my job as a fellow is drafting bills, letters, memos, and briefings for the Senator to help him prepare for events. Putting together memos and briefings is probably where my research and analysis skills from graduate school are most valuable. These documents need to succinctly synthesize what a particular event is about, what stakeholders are involved and what their perspectives are, what past legislative or oversight work the Senator has done in that issue area, and what message he should try to get across in his remarks. Overall, I really like the pace of my office and the scope of issues I work on, and I’m looking forward to what the next few months will bring!

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Meeting visitors from Connecticut is one of my favorite parts of my fellowship rotation on Capitol Hill. (courtesy Dr. Granatosky)

Applying My Scientific Training in a Policy Environment

As I look back on the past six months, I realize how valuable this fellowship has been for my career and professional development. I’ve solidified my interest in pursuing a path in science policy, and thought more specifically about what kind of professional positions I might like to pursue in the future. I’m constantly refining my communication skills, particularly in writing for different audiences and purposes. I’m improving my project and time management skills, and learning to how to prioritize short- and long-term goals. Maybe most importantly, I really like what I’m doing! This fellowship has shown me first hand that I can apply my scientific training outside of a research environment in a way that’s both personally and professionally fulfilling.

I would definitely recommend this fellowship to any early career genetics professionals who are interested in careers in policy. Beyond getting to do the kind of awesome work I talked about here, you’ll benefit from mentorship and support from the whole community of fellowship alumni. Thank you to ASHG and NHGRI for making this experience possible, and I can’t wait to see what the rest of my fellowship brings!

Interested in applying for the ASHG/NHGRI Genetics & Public Policy Fellowship? Applications are open through April 19.

U.S. Congress Approves $2 Billion Increase for NIH Funding

Posted by: Nikki Meadows, PhD, ASHG/NHGRI Genetics & Public Policy Fellow

Last month, the U.S. Congress approved legislation establishing a $2 billion (or 5.1%) funding increase for the National Institutes of Health (NIH) in Fiscal Year (FY) 2019. NIH’s total funding for FY 2019 is $39.1 billion. This includes increased funding for several priority research initiatives, such as the Cancer Moonshot and the All of Us research Initiative.

Increase Will Support New Priorities in Genetics and Genomics

The legislation (H.R. 6157) was signed into law by President Trump on September 28, after passing both the Senate (93-7) and the House (361-61). The $2 billion boost is the fourth consecutive increase in the NIH budget in recent years, demonstrating strong bipartisan support for biomedical research in Congress. Significantly, it is the first time in over 20 years that Congress has finalized the NIH budget on time.

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The $2 billion increase is consistent with the increase recommended and advocated for by ASHG and other FASEB organizations. (Credit: NIH Research Funding Trends, FASEB)

In addition to Congress being able to allocate funding for specific research initiatives, the annual appropriations bill also gives Congress an opportunity to issue directives to federal agencies, such as establishing how an agency should proceed on a particular activity or commissioning a report about a particular topic. One such directive you may be familiar with is the so-called “Dickey-Wicker Amendment,” which forbids the use of federal research dollars on any research that harms human embryos. In the FY 2019 appropriations, there are three directives related to genetics and genomics:

  • Representatives Marcy Kaptur (D-OH) and Katherine Clark (D-MA) advanced an amendment protecting the genetic privacy of individuals seeking family reunification. The amendment directs the Office of Refugee Resettlement to ensure the protection and privacy of genetic material, data, or information of children, parents, and all of the individuals being tested and their relatives.
  • A Government Accountability Office report was commissioned to analyze the medical genetics workforce nationwide. The report is asked to determine whether there are a sufficient number of qualified professionals to serve this growing health need and whether there are any geographic areas that lack access to genetic counseling professionals.
  • An amendment from Senator Marco Rubio (R-FL) requires the HHS Secretary to submit a report on the circumstances in which the Centers for Medicare and Medicaid Services may be providing payments to, or otherwise funding, entities that process genome or exome data in the People’s Republic of China or the Russian Federation.

Funding Bill’s Timely Passage Will Help with Long-Term Planning

The fiscal year runs from October 1 through September 30 of the following year, and each year, Congress is required to establish funding for upcoming fiscal year. For the past 21 years, Congress has missed the deadline, and in order to avoid a government shutdown, had to pass a Continuing Resolution (CR) that agreed to continue to fund the government until a new spending bill was completed. Indeed, such a scenario caused brief shutdowns last winter.

This year, the Department of Health and Human Services, which includes NIH, was funded through all of FY 2019, so there is no possibility of a shutdown for NIH. The budget’s timely passage means that institutes and centers can plan for the year ahead knowing what funds are available. However, other agencies, including the National Science Foundation, are currently funded by a CR until December 7, 2018, and funding for these agencies in FY 2019 remains uncertain.