Social Issues at the Annual Meeting: Perspectives on Germline Gene Editing Regulation

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

Recent advances in human gene editing research have sparked widespread conversation in the international scientific community about the benefits, risks, limitations, and ethical considerations associated with editing technologies. ASHG collaborated with the National Academies of Science, Engineering, and Medicine to bring this dialogue to members, at the “Perspectives on Germline Gene Editing Regulation” forum at the 2019 Annual Meeting.

The National Academies, along with the Royal Society of the United Kingdom, leads the International Commission on the Clinical Use of Human Germline Genome Editing. The Commission is currently developing a framework for considering issues around germline genome editing, which would govern the use of the technique if and when society decides that such use is appropriate. A similar effort – the Expert Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing – is currently underway at the World Health Organization (WHO). Both groups are writing reports articulating their recommendations for germline editing. Leaders from these projects convened in Houston to outline their progress so far and to engage in a discussion, moderated by Charles Rotimi, PhD, with ASHG attendees.

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Dr. Dzau addresses attendees at the Perspectives on Germline Gene Editing Regulation forum at ASHG 2019.

Victor J. Dzau, MD, President of the National Academy of Medicine, outlined previous international efforts that shape the Commission’s goals and scope. He noted that the November 2018 announcement of the first “CRISPR babies” was a wake-up call for experts to take stronger, more definitive action to confront the realities of a world where human germline editing was not only possible, but happening. In an interview with ASHG TV, Dr. Dzau said, “This forum is timely, because as both of these studies are ongoing, it’s a perfect place for the community to come together to talk about this, and to be aware of what we’re trying to do.”

Kay E. Davies, PhD, co-chair of the Commission, described her group’s mission and efforts thus far, which include the first of three planned commission meetings. She presented several prompting questions that the Commission hopes will guide the community in providing useful feedback to the group.

Kazuto Kato, PhD, a member of the WHO Expert Advisory Committee, shared that the group plans to leverage the global presence of the WHO to make appropriate international, national, and regional recommendations on governance mechanisms for human genome editing. He also noted that some nations, including his home country of Japan, were beginning their own conversations and projects on human genome editing.

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Forum attendees heard from international genetics leaders before being invited to voice their own perspectives.

The second half of the forum was dedicated to open conversation on germline gene editing regulation. Major themes included the need for any reports to be flexible and adaptable to future developments in the field, the need to represent a variety of geographic and demographic perspectives in international discussions, and the tensions between encouraging scientific and medical progress while exercising appropriate caution.

Dr. Rotimi and the panelists were enthusiastic about the level and quality of discussion and expressed interest in following up with the ASHG community next year as their groups’ work continues. As the forum concluded, Dr. Davies remarked,  “I look forward to the workshop next year when both reports will be out, and we’ll have another opportunity to address some of these issues because they’re so important for everyone in this room and everyone in the world…I’m an optimist too but there’s going to be a lot of hard work.”

Couldn’t make it to this session? Check out the recording!

Eve Granatosky, PhD, is the 2018-2019 Genetics and Public Policy Fellow, and is currently completing her third fellowship rotation in ASHG’s Policy and Advocacy Department.

Social Issues at ASHG: Invited Session on “DNA in the Public Sphere”

Posted By: Eve Granatosky, PhD, and Sammy Katta, PhD, Genetics and Public Policy Fellows

In addition to showcasing a wide array of excellent scientific programming, the ASHG 2019 Annual Meeting featured several interesting discussions on topics at the intersection of science, policy, and bioethics.

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This session brought together experts from multiple fields to discuss the use of genetic information outside of traditional laboratory and clinical settings. Credit: Elena Ghanaim, NHGRI

One such session was “DNA in the Public Sphere: How Genomic Information is Used and Protected Outside of Research and Medicine,” which brought together experts in genealogy, anthropology, forensics, and law to discuss how genetic information is integrated into their work. The session included:

  • CeCe Moore, DNA Detectives and Parabon Nanolabs
  • Amy McGuire, JD, PhD, Baylor College of Medicine
  • Kate Spradley, PhD, Texas State University
  • Jennifer Wagner, JD, PhD, Geisinger Health
  • Cristina Kapustij, MS, National Human Genome Research Institute (co-moderator)
  • Sara Katsanis, MS, Northwestern University (co-moderator)

Behind the Scenes

Eve had an inside look into the makings of this session during her Genetics and Public Policy Fellowship rotation in the Policy and Program Analysis Branch (PPAB) at NHGRI (read more about her fellowship experiences). She worked with PPAB Branch Chief Cristina Kapustij to shape the overall scope of the session, brainstorm and invite potential panelists, and draft the proposal for the session. She had a great learning experience considering which speakers would be interesting to ASHG attendees and how their different expertise and perspectives would contribute to the discussion.

Engaging with Attendees

CeCe Moore opened the discussion by outlining facts and myths about her work as an investigative genetic genealogist, and expressed concerns that changes in public databases’ policies requiring users to opt in to searches will make it more difficult to both accurately identify likely suspects and avoid unfairly targeting innocent, uninvolved persons. Amy McGuire spoke about how general mistrust of government shapes perceptions of using genetic databases, and noted that current policy provides no oversight for bad actors and violations of public trust. Kate Spradley discussed the challenges of identifying postmortem human remains found near the border given their varied nationalities, and emphasized that international collaboration and transnational agreements on the use of genetic data would be immensely helpful to her work. Jennifer Wagner concluded by walking the audience through legal precedents surrounding the use of DNA outside of research, and emphasized the lengthy process involved in enacting new regulations or law.

In a live poll during the session, about 200 attendees shared their interests, reactions to the topics presented, and ideas for continued conversation related to regulation, privacy, security, and engagement.

  • 48% had heard from the media about DNA databases being used in criminal investigations. Despite the prevalence of immigration-related stories in the national news, only 2% of respondents had heard that DNA data is used in this context.
  • 28% of respondents said that they would add their raw genomic data to a public database knowing that it might be used by law enforcement. 42% said they would not add their data, and the remaining 30% were unsure.
  • 59% of respondents either felt positively or somewhat positively about the creation of a universal DNA database for solving crimes and investigating deaths, while 33% felt negatively and 8% were unsure.
  • 45% of respondents said that DNA testing should not be used on migrant families to verify claimed relationships, while 28% believed that it should be used and 27% were unsure.
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Moderator Cristina Kapustij invites session attendees to participate in the Poll Everywhere live survey. Credit: Elena Ghanaim, NHGRI

Session attendees also commented on how the genetics community should connect with the public on the use of genetics in the public sphere. Top answers were:

  • Being clear and open about how DTC companies can use genetic information
  • Maintaining transparency in how DNA can be used in all facets of society and encouraging the public to be engaged with enforcing this transparency
  • Hosting and participating in conversations with non-scientists in community spaces
  • Developing guiding principles for the use of DNA outside of research and medicine

Earlier this fall, ASHG released a perspective describing the society’s core principles about privacy protections that should apply to all genetics and genomics research. Many of the themes in ASHG’s perspective also arose during this session. Attendees generally agreed about the importance of considering the context and potential benefits and risk of the use of genetic data, and that transparency, confidentiality, and individual decision-making about data use should be prioritized in all contexts.

Continuing the Conversation

Sammy, who recently began her first fellowship rotation at PPAB, found the panel to be a fascinating introduction to some of the less-publicized policy implications of genetic testing. She will be sharing the panelists’ perspectives and the audience’s responses with the NHGRI community through a poster at the institute’s upcoming annual symposium. She hopes attendees at the session and the symposium will feel more informed about these policy issues, and encourages them to continue discussing with their communities how DNA is used in the public sphere.

Eve Granatosky, PhD, is the 2018-2019 Genetics and Public Policy Fellow, and is currently completing her third fellowship rotation in ASHG’s Policy and Advocacy Department. Sammy Katta, PhD, is the 2019-2020 Genetics and Public Policy Fellow, and is completing her first fellowship rotation at NHGRI.

ASHG/ESHG Building Bridges: Tackling Global Questions Together

Posted By: Ann Klinck, Communications and Marketing Assistant, ASHG

ESHG/ASHG Building Bridges 2019
ASHG/ESHG Building Bridges Session Panel

The ASHG/ESHG Building Bridges session at the ASHG Annual Meeting examines topics of interest to geneticists around the globe. This year, panelists discussed the potential policy implications of genetic research into educational attainment. Recent genome-wide association studies show that polygenic scores (PGS) of common variants can explain a portion of variance in educational attainment (EA). What does this mean for questions such as whether polygenic scores for educational attainment should be used in school admissions, or to identify children likely to need specific educational help?

If you missed the session but are interested in learning more, here’s a brief summary with the some of the top takeaways. A recording of this session will be made available after the Annual Meeting.

Who were the Experts?

Moderators: Kiran Musunuru, ASHG and Joris Veltman, ESHG

Panelists:

  • Alexander Young, PhD, MPH, University of Oxford
  • Dalton Conley, PhD, Princeton University & NBER
  • Kathryn Paige Harden, PhD, University of Texas at Austin
  • Aysu Okbay, PhD, Vrije Universiteit Amsterdam
  • Melinda Mills, PhD, University of Oxford & Nuffield College

How Educational Polygenic Scores Could be Used

Using PGS to predict EA has negative and positive implications, the panelists explained. It could lead to the selection of different embryos in hopes of future higher educational attainment, or the use of PGS in school admissions and to attempt precision education. Another possibility is that insurers and other companies may use PGS to attempt to predict customer behavior.

The panelists emphasized that EA should not be used on an individual level to receive precision education, and that it is more useful when trying to examine groups of people. Additionally, other factors, such as parental education level, have been found to more strongly predict an individual’s EA.

EA prediction could be used positively to provide resources to those with a lower predicted EA. Like socioeconomic standing, it could be used to prioritize equity in educational opportunities. Dr. Okbay also noted that information like PGS predicting EA could be used to measure labor market ability and interactions between education reforms and ability.

Public Policy Implications

The panelists expressed concern about a lack of regulation on the potential use of PGS by insurance companies, schools, employers, and others to make individual-level assumptions. Without regulation, people who don’t fully grasp the limitations of PGS could use them to misrepresent an individual. Until there is more representation in research, the panelists said, scientists should help policymakers understand why PGS should not be used broadly at this time in a way that could affect a person’s opportunities or freedoms.

Does the Public Want to Use Polygenic Scores?

The panelists presented research indicating that most people would be comfortable using PGS in the context of preventing diseases like diabetes. Approaches that provided patients with more information to empower their decision-making was favorable. However, participants were less comfortable with the potential use of PGS to take away their autonomy, such as schools rejecting students based on a score. They also were not interested in using PGS to create certain physical attributes.

Takeaways

During the hour-long Q&A, several themes and takeaways arose:

  • Polygenic scores should not currently be used to predict individual-level educational attainment.
  • Currently, 80-90% of genetic discovery is within populations of European ancestry. Improving diversity in research will result in improved EA predictions.
  • There is a need for public policy regulating the use of EA to decide admission to a program or opportunities given.
  • There can be positives of using PGS in EA, such as making the educational system more equitable.

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.

Trainees Advocate on Capitol Hill: 2019 Rally for Medical Research

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

September 18-19 marked the 2019 Rally for Medical Research, hosted by the American Association for Cancer Research (AACR). Three hundred scientists, physicians, patients, and activists met with their elected officials on Capitol Hill, calling for an increase of at least $2.5 billion in NIH funding in Fiscal Year (FY) 2020.

Emily Davenport, PhD, of Pennsylvania; and Grace Kwon, BS, of Connecticut, both members of the Training & Development Committee, participated in this event, sharing their stories with seven congressional offices to make a case for this increase in funding.

ASHG: How was your overall first experience advocating on the Hill?

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Grace Kwon with Senator Christopher Murphy’s (D-CT) staffer

Grace Kwon: Participating in the Rally for Medical Research was a wonderful experience. It put into perspective the wide-ranging impact both basic and clinical research can have across the country, at an individual and community level.

The opportunity to directly advocate for increased NIH funding to Congressional offices was a unique experience that a graduate student might think wouldn’t have a large impact. However, as the only constituent from the state of Connecticut I was able to give personal examples of how NIH funding has made an impact on my training thus far. As a student, I was also able to directly speak about the impact that a sustained increase in NIH funding would have on my future career.

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Emily Davenport meets Senator Bob Casey, Jr. (D-PA)

Emily Davenport: I had a great time advocating for NIH funding with the Rally for Medical Research. I was able to meet with elected officials and/or staff from both of the Senators and three of the representatives from my state, along with other researchers, patients, and advocates. Every conversation was different. The perspectives of everyone in the room emphasized the broad reach NIH funding has, including not only improving health, but for science careers, job creation, and education.

ASHG: Why is it important for scientists to meet with their members of Congress?

Emily: Science takes time and science careers can be unstable. As working scientists, we are all too aware of those facts, but they aren’t always clear to our representatives. It’s incredibly useful for members of Congress to meet with researchers to understand just how long it takes to go from having an idea, to securing funding, to performing the research, and then potentially translating that research into something clinically useful.

Having stable and predictable funding is the only way that can happen. Representatives see first-hand what their support is capable of generating by hearing examples of the research discoveries happening in their home districts.

Grace: The fact that the Rally for Medical Research brought a wide-ranging group of individuals is a testament to the impact that NIH funding has in the United States. Scientists bring one unique perspective that will help Congressional leaders understand how increasing NIH funding provides both short- and long-term benefits. Important innovations like cancer immunotherapies, genetic testing, and vaccines started in the laboratory.

There is also an underlying notion that science and research is inaccessible to the general public. This is false! Science is for and impacts everyone. It is a scientist’s responsibility to make their research understandable to those outside of the field and provide a broader context for their research focus.

ASHG: What are some ways your colleagues and fellow ASHG members can get involved in advocacy?

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Grace Kwon, BS (left) and Emily Davenport, PhD (right) with a displayed quote from ASHG President-Elect, Anthony Wynshaw-Boris, MD, PhD at Wednesday’s reception

Grace: Reach out to your state’s Congressional leaders! ASHG has many opportunities listed on their webpage, where you can also send a letter to your state’s Senators. Institutions often have an office dedicated to working on legislation focused on science-related issues, such as research funding – I would reach out to them for any opportunities they have available. If you are a trainee or student, you can form a student group or organization focused on advocating for a specific cause if your institution does not already have one.

Emily: Advocacy comes in all shapes and sizes. You can do as little as take 10 minutes to call or email your representatives about an issue that’s important to you, or go as far as applying to do a policy fellowship to be directly involved on a daily basis. One great way to start getting involved is “taking the pledge” and becoming an ASHG Advocate. You’ll get monthly email updates with up-to-date action alerts, genetics policy news, and relevant policy-related events.

Please visit ASHG’s Advocacy Center and “Take the Pledge” to become an ASHG Advocate!

Improving Access to Genetic Counselors under H.R. 3235, the “Access to Genetic Counselor Services Act” of 2019

Guest Post: Amy Sturm, MS, LGC, President, National Society of Genetic Counselors

Genetic and genomic innovation has made leaps and bounds to improve people’s health. As the technology has evolved, many delivery models have integrated genetic counselors into the healthcare team so that patients and their family members have access to them.

Indeed, the genetic counselor profession has grown rapidly and by year’s end, there will be well over 5,000 genetic counselors practicing across the country. This number should almost double in the next ten years to continue to meet the steady demand for our services. Most health plans reimburse genetic counselors and genetic counseling. In addition, delivery models are becoming even more diversified so that genetic counselors are available remotely to patients and other providers by phone and through telehealth.

Medicare Coverage and Reimbursement: A Challenge to Access

The one area that has held back access to genetic counselors is Medicare. Medicare currently covers and reimburses genetic counseling, as well as many genetic tests. However, Congress has not enacted legislation that would recognize genetic counselors as Medicare practitioners and because of this, Centers for Medicare and Medicaid Services (CMS) does not reimburse genetic counselors. CMS currently reimburses physicians and nurse practitioners for providing genetic counseling.

Lack of access has been shown to result in patient harm, such as incorrect interpretation of genetic test results, failure to identify individuals with genetic risk, and inaccurate risk assessments leading to inappropriate medical management. Another reason that CMS should recognize genetic counselors is because we are also a great resource in ensuring the correct tests are ordered, which may lower Medicare spending.

H.R.3235 Would Recognize Genetic Counselors as Practitioners

But there is good news! Representatives Loebsack (D-IA) and Kelly (R-PA) have introduced H.R. 3235, the “Access to Genetic Counselor Services Act,” which would have CMS recognize genetic counselors as practitioners. NSGC appreciates and thanks ASHG for supporting this important legislation.

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NSGC President Amy Sturm (right), with Congressman Brendan Boyle (D-PA). (courtesy NSGC)

The passage of H.R. 3235 would reverse current Medicare policies that limit physician referrals to genetic counselor services. Today unfortunately, because of arcane Medicare “incident to” rules, referrals to genetic counselors are limited under Medicare. Physicians and other providers who do not work alongside a genetic counselor, but who may want to refer to genetic counselors for the delivery of genetic services to their patients, would first need to refer their patient to a physician that actually works with a genetic counselor. This is extremely inefficient and is prohibitive. Medicare beneficiary access to genetic counselors is therefore very limited.

We are working hard with groups like ASHG to put pressure on Congress to enact this important legislation. Medicare needs to modernize in many ways, and this is a perfect example of how Congress can improve the delivery of genetic services. If you’d like to support this effort, please visit: https://www.nsgc.org/p/cm/ld/fid=612

ASHG, AMP, and Partner Groups Oppose New Bill Allowing Gene Patenting

Posted by: Jil Staszewski, ASHG Policy & Advocacy Manager

Recently, there has been a re-emergence of gene patenting, an old issue that could impact the future of genetic research and medicine. On Wednesday, May 22, Senators Thom Tillis (R-NC) and Chris Coons (D-DE), along with Representatives Doug Collins (R-GA-9), Hank Johnson (D-GA-4), and Steve Stivers (R-OH-5) released text for a draft bill that seeks to reform Section 101 of the Patent Act. If passed, this legislation would effectively overturn the 2013 Association for Molecular Pathology (AMP) vs. Myriad Supreme Court decision, which ruled that our genomes are not eligible to be patented, as they occur in nature. Essentially, the bill would allow for the patenting of genes.

Background

To provide a bit of history on the issue, back in 2009, AMP, along with the American Civil Liberties Union (ACLU), filed a lawsuit against Myriad Genetics, challenging the validity of Myriad’s patents on the isolated BRCA1 and BRCA2 genes. AMP argued that these patents created extraordinary burdens for researchers, as they skyrocketed the cost of related testing and prevented further innovation. ASHG and several other medical associations submitted an amicus brief in support of AMP’s claims. In March 2010, the case was heard before the United States District Court of New York, where the judge ruled that products of nature could not be patented.

Upon successful appeal by Myriad, the case was eventually heard by the Supreme Court. In 2013, the Supreme Court ruled that isolated genes were still considered products of nature, and were not eligible to be patented.

ASHG’s Position

This AMP vs. Myriad ruling has played a large part in fostering an environment where researchers and clinicians are unencumbered by patent barriers.

Reacting to the news of the pending legislation, ASHG President-Elect, Anthony Wynshaw-Boris, MD, PhD, stated, “ASHG remains firm with our support of the 2013 Supreme Court ruling of AMP vs. Myriad that established that naturally occurring DNA is not patentable because it is a product of nature. It allows researchers to investigate the entire genome without fear of legal barriers and repercussions, helping to advance genetic discoveries and the development of new diagnostics and treatments for patients.”

ASHG has signed onto a joint, multi-society letter to the proposed bill’s sponsors, in opposition to the bill.

Next Steps

This week, a two-part hearing titled “The State of Patent Eligibility in America” was held by the Senate Judiciary Committee’s Subcommittee on Intellectual Property, where Senators Tillis and Coons serve as Chairman and Ranking Member, respectively. In his opening remarks, Senator Coons stated that the bill does not intend to overrule the 2013 Supreme Court ruling, but instead hopes to draw the line for how much human intervention is needed to determine patent eligibility.

Senator Tillis, Chairman, and Senator Coons, Ranking Member, welcome the participants of the “State of Patent Eligibility in America” hearing.”
Senator Tillis, Chairman, and Senator Coons, Ranking Member, welcome the participants of the “State of Patent Eligibility in America” hearing.

In his testimony, Charles Duan, Director of Technology and Innovation Policy at the R Street Institute, disagreed with Senator Coons’ claims, citing that the draft bill “provides that patent eligibility inheres in any ‘invention or discovery’ that arises ‘through human intervention.'”

Also amongst the panelists was Kate Ruane, Senior Legislative Counsel at the ACLU, who stated that the draft bill’s proposed revival of patent claims on genes would essentially violate the First Amendment, as it would deny scientists the ability to freely study and research genes. A third group of panelists will testify for a final hearing early next week.

ASHG will be following this impending legislation closely in the next coming weeks, and will alert ASHG members on any significant updates or grassroots advocacy efforts that may require your action and support. To stay up-to-date on the issue, be sure to subscribe to our monthly policy and advocacy email updates.