AAAS 2019: Science Transcending Boundaries

Posted by: Eve Granatosky, PhD, 2018-19 Genetics & Public Policy Fellow

Earlier this month, I attended the Annual Meeting of the American Association for the Advancement of Science (AAAS), held right here in Washington, DC. Themed ‘Science Transcending Boundaries,’ the program featured sessions on how science can bring together people, ideas, and solutions from different disciplines and sectors to address the world’s most pressing problems. This conference was very different from others I’ve attended in the past, which have focused on one specific scientific area. The AAAS Meeting also had a strong focus on science policy and communication, and I was excited to attend those sessions as well as explore scientific talks in different areas.

A common theme across the policy and communication sessions was the importance of understanding your audience – what are their priorities, and what information is valuable and relevant to them? At one session, panelists discussed the many legitimate influences on policy and policymakers, and how scientific evidence is usually only one factor that contributes to decision making. In another, panelists spoke about the challenges of getting usable scientific information to policymakers, and described the important role of boundary organizations that span the science-policy interface in facilitating effective two-way communication. Later on in the conference, panelists discussed how science is frequently used strategically rather than substantively in policy (i.e. to support an existing position rather than develop that position).

The final session of the conference brought many of these ideas together. In “Science Activation: How Do We Get Our Science Used by Those in Power?”, seismologist Lucy Jones reflected on her experience in successfully working with local government and private industry in Los Angeles to better prepare the city for future earthquakes. Her tips and lessons included:

  • Scientists and non-scientists have different communication styles, and scientists’ emphasis on uncertainty can hinder effective communication.
  • Use scientific information to reduce uncertainty whenever possible, by focusing on describing future scenarios based on scientific consensus rather than the probabilities of potential outcomes.
  • Provide policymakers with actionable information to empower them to make decisions, and maintain relationships with stakeholders throughout the process.
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At the final session of the AAAS Annual Meeting, Lucy Jones, PhD, and AAAS President Margaret Hamburg, MD, discussed how human stories help engage the public on scientific issues.

Another policy-related highlight of the meeting was an appearance by Kelvin Droegemeier, PhD, the newly confirmed head of the White House Office on Science and Technology Policy. In his first public speech since assuming this position, he highlighted the progress made in science and technology during the Trump administration, including advances in artificial intelligence, quantum sciences, 5G networks, and manufacturing. He also emphasized the role of the private sector in supporting basic research, and the value of assessing all work being done in our country’s research ecosystem, including research in the academic, industrial, nonprofit, and federal agency sectors. By leveraging the strengths of each sector to build new public-private partnerships, he hopes to usher in a “second bold era” of science in the United States. Finally, Dr. Droegemeier acknowledged the need to create safe, welcoming, and accommodating environments for research, as well as to reduce administrative burden for scientists.

The need to improve the climate within science was also addressed at a session entitled “Societies Combatting Sexual Harassment in STEMM Fields,” which formally introduced the Societies Consortium on Sexual Harassment in STEMM. This group of almost 60 scientific societies (including ASHG!) plans to develop resources and guidance to address sexual and gender harassment in all its forms, in both society-organized operations like conferences and broadly within the societies’ scientific fields.

Between all of this excellent policy programming, I attended some great scientific sessions as well, on topics ranging from vaccine development to space exploration. Genetics was best represented at a session entitled “Race, Sex, and Genes: Shaping Bodies, Shifting Boundaries, Challenging Myths,” which delved into how social and biological factors intertwine to contribute to health disparities. Panelists discussed how human genetic variation does exist, but is distributed more geographically and as a gradient than on the strict racial lines dictated by society. They also discussed the complexities of consumer genetic tests in relation to group identity, saying that these tests can be valuable for marginalized people looking to reconnect to their ancestral communities, but should not be used to claim group membership.

Overall, I really enjoyed my time at AAAS 2019! I would highly recommend future editions of this conference for anyone who is interested in science policy and communication, or who is interested in expanding their scientific horizons and learning about new topics.

Eve Granatosky, PhD, is the 2018-19 ASHG/NHGRI Genetics & Public Policy Fellow. She is currently in her second rotation in the United States Congress, working on health and education issues for Senator Richard Blumenthal. Interested in this fellowship? Applications will open in late February.

Voice Your Concerns about the U.S. Government Shutdown’s Impact on Science

Posted By: Staff

The American Society of Human Genetics (ASHG) deeply believes that ongoing federal government support is essential for the scientific enterprise in the United States. We affirm the important role of normal operations to keep scientific progress moving forward.

20190124_capitolAlthough – fortunately – the National Institutes of Health (NIH) is operational during the partial U.S. government shutdown, other science-based agencies that support and facilitate ASHG members’ work and that of their colleagues are not. Notably, the National Science Foundation (NSF) is affected.

ASHG is proud to stand with the Federation of American Societies for Experimental Biology (FASEB) in letting Congress know how the shutdown is affecting science. Please use FASEB’s Legislative Action Center to contact your members of Congress about how the shutdown is impeding progress and reaffirm the importance of science agencies in advancing research.

 

H.R. 7083: Improving Access to Genetic Counseling

Posted By: David L. Nelson, 2018 President

Genetic counseling is an integral part of advancing human genetics in medical care and vital to our collective research agenda. Recognizing this, ASHG took action last week in strong support of H.R. 7083, the Access to Genetic Counselor Services Act of 2018, which would expand access to genetic counseling services for Medicare beneficiaries. We took this action under the leadership of the National Society of Genetic Counselors (NSGC), and are proud to add our largest voice in the human genetics community to urge this policy change. NSGC is our valued partner on this legislation and other new programming to serve genetic counselors in research.

Specifically, I wrote to bill sponsors Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA) expressing the Society’s gratitude for introducing this legislation and for seeking to resolve a problem that has existed for many years (see image). Currently, while genetic counseling is covered under Medicare, genetic counselors themselves are not currently recognized as providers by the Centers for Medicare and Medicaid Services, the federal agency that runs the program. This means that genetic counselors are unable to bill directly for any services rendered to Medicare beneficiaries.

The letter written by David Nelson, PhD, ASHG President, to U.S. Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA).
The letter written by David Nelson, PhD, ASHG President, to U.S. Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA).

H.R. 7083 is designed to resolve this coverage gap. If it were to become law, this bill would recognize licensed genetic counselors as Medicare healthcare providers, and further establish a path for Medicare reimbursement for other genetic counselors.  In this way, it will reduce the access issues to genetic counseling services currently faced by Medicare beneficiaries.

For this bill to become law, it will need to be passed by Congress in the next few days.  Given the many steps in the legislative process, this is highly unlikely.  However, we hope that the legislation is re-introduced when the Congress reconvenes next year and that Congress advances it swiftly through the legislative process.

To receive updates regarding progress of this bill and on other issues, I urge you to sign up as an ASHG Advocate if you have not already done so.

David L. Nelson, PhD, is the 2018 President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.

Legislation Funding NIH Also Protects Genetic Privacy of Vulnerable Families

Posted By: Nikki Meadows, PhD, 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow 

Buried within the legislation establishing funding for the National Institutes of Health for Fiscal Year (FY) 2019 (H.R. 6157) is a little-reported provision to protect the genetic privacy of immigrant family members. Congress often uses the annual appropriations bills to direct federal agencies on how to proceed on a particular activity or to commission a report about a particular topic. This provision, proposed by Representatives Marcy Kaptur (D, OH-09) and Katherine Clark (D, MA-05), is one such directive.

The U.S. Capitol Building
The U.S. Congress gave some attention to genetic privacy through the annual budget. (courtesy the Architect of the Capitol)

In April, the Department of Homeland Security (DHS) began enforcing an existing family separation policy with the stated goal of stemming what DHS and other related agencies perceived to be a rise in illegal immigration at the U.S.—Mexico border. As was widely reported in the media, children were separated from their parents or legal guardians at the border and placed in the custody of the Department of Health and Human Services’ (HHS’s) Office of Refugee Resettlement (ORR), while the parents and legal guardians were held in criminal detention. In response, many members of Congress and the general public demanded reunification of these families, and in June a federal judge ordered that the more than 2,500 children in ORR custody be reunited with their families.

Family Reunification Involved Genetic Testing 

To help reunite young children with their families by the July 5 deadline, HHS began using DNA testing to verify parentage. However, HHS provided few details regarding the testing, such as who was being tested, which labs were involved in performing the tests, and what testing was being performed. Importantly, there was also a lack of clarity regarding whether individuals were consenting to such testing, how HHS was protecting individuals’ genetic privacy, and how the test results could be used.

The provision added by Reps. Kaptur and Clark was designed to address some of these concerns. It directs ORR to “ensure the protection of privacy and genetic material, data, or information of children, parents, and of all individuals being tested and their relatives.” It also requires consent prior to collection and sample destruction once testing has concluded.

ASHG Applauds Kaptur and Clark for their Attention to Genetic Privacy 

ASHG was very supportive of this provision, and President David L. Nelson sent letters to Reps. Kaptur and Clark thanking them for their “leadership in advancing measures to ensure individuals’ genetic privacy as immigrant families seek to be reunified.” He wrote that “…an individual’s genome includes information on his or her risk for disease, their ancestry, and their relatedness to others, [so] it is important that we protect the genetic privacy of people tested.” He went on to further say that “genetic analysis should be restricted to the explicit purpose for which a person is being tested.”

ASHG’s support for this provision is the latest way in which the Society is championing measures to protect individuals’ genetic privacy. ASHG is a strong supporter of the Genetic Information Nondiscrimination Act (GINA), which among its provisions protects genetic privacy related to employment and health insurance, as well as a similar law in Canada. It also supports provisions in the 21st Century Cures Act strengthening participant privacy in research. The Kaptur/Clark amendment extends some privacy protections to those seeking reunification and ensures that federal agencies cannot use their genetic information for any purpose beyond reunification.

Nikki Meadows, PhD, is the 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on ASHG’s policy and advocacy programs, please visit the Policy & Advocacy webpage. 

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.

Talking Genetics and Genomics on Capitol Hill

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

What happens when you put three genetics experts in a room full of curious minds? Ideally, a fascinating conversation that everyone involved will still be talking about days later, and that’s exactly what happened in a U.S. Senate hearing room last Friday, September 28. The health staff of Senator Patty Murray, top Democrat on the U.S. Senate Committee on Health, Education, Labor and Pensions (HELP Committee), invited ASHG, along with the National Human Genome Research Institute (NHGRI) and the HudsonAlpha Institute for Biotechnology, to discuss genomics with Congressional staff working on health issues.

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L-R: Genetics experts Eric Green, Neil Lamb, Nikki Meadows, and Kiran Musunuru discussed the importance and uses of genetics and genomics research with U.S. Congressional staff. 

With genomic technologies becoming more prevalent in medicine and agriculture, it is critical that those making legislative policies impacting genetics and genomics have a good understanding of genomics research and its uses. NHGRI was represented by its Director, Eric Green, MD, PhD; HudsonAlpha invited their Vice President for Educational Outreach, Neil Lamb, PhD; and ASHG’s spokesperson was Kiran Musunuru, MD, PhD, MPH, an Associate Professor of Medicine at the University of Pennsylvania and our 2019 Program Committee Chair.

Dr. Green opened the conversation by discussing how technology advancements in the last two decades have revolutionized the field of genomics. He described how our ability to now sequence an individual’s entire genome quickly and cheaply has completely transformed how we think about genomics, the types of information we can glean from our genomes, and how we can apply this knowledge to realize the vision of personalized medicine. Dr. Musunuru explained how scientists are able to use genomics to increase our understanding of common diseases such as cardiovascular disease, and to explore possible avenues of treatment.  He also explained why diversity in research cohorts is so important. Dr. Lamb finished up the introduction to genomics by talking about using genomic sequencing to study rare and undiagnosed diseases; he also touched on how using genomics in agriculture may have an impact on the plants and animals that we eat in the future.

A fascinating dialogue ensued between the expert panel and the Congressional staff regarding what personalized medicine will look like in the future, how genomic technologies are going to fit into existing healthcare framework, and the importance of genomic literacy at all levels.

Through participation in events like these on the Hill, ASHG is helping Congress understand the value of genetics research. It also helps us showcase the expertise of our members, and demonstrates that ASHG is a resource to which Congress can turn for expertise on human genetics and associated policy issues. In this way, we are able to build stronger relationships with members of Congress and their staff.

Nikki Meadows, PhD, is the 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on ASHG’s policy and advocacy programs, please visit the Policy & Advocacy webpage.

Welcome Genetics & Public Policy Fellow: Eve Granatosky

Posted by: Staff

We’re excited to welcome Eve Granatosky, PhD, to the ASHG family!

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Eve Granatosky, PhD, ASHG/NHGRI Genetics & Public Policy Fellow  (courtesy Dr. Granatosky)

Dr. Granatosky started the ASHG/NHGRI Genetics & Public Policy Fellowship in August, and we were able to sit down to discuss how she got into science policy and what most excites her about her new position. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics and Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policy-making process.

ASHG: Why did you apply for the ASHG/NHGRI Genetics & Public Policy Fellowship?

Eve: The ASHG/NHGRI Genetics & Public Policy Fellowship is one of the few fellowships that has a rotational structure, allowing me to sample a few different areas in science policy. I’m not sure exactly what type of policy I want to get into, or which stakeholders I want to work with, so this position will allow me to figure that out. I recommend it to anyone who’s interested in science policy, but uncertain about what their first steps into the field should be.

ASHG: How did your background lead you to science policy

Eve: I started my career at Stonehill College, with a BS in biochemistry, and received my PhD from the University of Notre Dame. While my research focused on the biosynthesis and therapeutic potential of complex molecules derived from soil bacteria, I also developed my love for science policy.

I went into graduate school not really knowing what I wanted to do, but while there, I got to hear a guest lecturer who was a biochemist by training but currently worked for the government on bioterrorism issues abroad. She was using her scientific degree outside of the lab and the purely medical realm. This was the first time I thought that I could do something different with my degree.

I also participated in a Capitol Hill Day, where I had the opportunity to advocate for scientific research to politicians. There, I met graduate students from other universities who were also interested in science policy. Their schools had groups on campus that allowed them to participate in science policy activities year-round, which led me to co-founding the Science Policy Initiative at Notre Dame (SPI@ND).

SPI@ND meets monthly to discuss policy issues, but also collaborates with other science policy groups, such as the National Science Policy Network, and runs outreach events on campus and in the community. Though SPI@ND now runs without me, I am proud to say that it is still a strong organization.

ASHG: Why science policy?  

Eve: While at Notre Dame, I was working in a lab that focused on a rare neurodegenerative condition that largely affected children. In this position, I mostly interacted with researchers, but also got to meet some of the patients and their families. It was really inspiring to see the people who our research directly affected. Science policy is an avenue for me to continue to have that direct impact. It creates paths that get the research to the people who need it.

In addition, during my lab work, it occurred to me that there were striking differences in perspectives when it came to how scientists and nonscientists viewed some issues, such as the use of genetically modified organisms. I want to assist in addressing these differences and produce work that will help all stakeholders benefit from the research being done.

ASHG: What policy issues interest you?

Eve: Making diagnostic and therapeutic tools for rare diseases more accessible to patients is a need in the field. We also have to make sure that the regulatory environment is favorable towards these developments, and that patients can more easily participate in clinical trials for new interventions.

Collaboration is a major part of these efforts. Without collaboration between organizations, both private and public, research ceases to advance and useful clinical trials won’t exist.

ASHG: Where do you think genetics is heading?

Eve: I’m really excited to see that the general public is becoming more interested in genetics because of services like direct-to-consumer genetic testing. I obviously love genetics and science, so this is a great time for us! I believe genetic testing will continue to become more accessible and useful, especially when it comes to developing precision medicine.

ASHG: Any final words for fellow scientists interested in science policy?

Eve: Twitter is a fantastic source to learn about science policy. The hashtags #scipol and #SciPolJobs are very active, and useful when it comes to finding opportunities to get involved. Science policy advocates are also engaged on Twitter and will live-tweet hearings or give their opinions on bills. Definitely check out those feeds to get a sense for what you might be interested in and what the field is looking for.

Background on the ASHG/NHGRI Genetics & Public Policy Fellowship:

The ASHG/NHGRI Genetics & Public Policy Fellowship is designed as a bridge for genetics professionals wishing to transition to a policy career. This unique fellowship provides three separate types of experiences: time spent in the National Institutes of Health within the Executive Branch; a staff position on Capitol Hill serving elected officials in the Legislative Branch; and experience working with ASHG in the non-profit science advocacy sector. Applications open annually in February.