Happy 10th Birthday, GINA!

Posted By: Derek Scholes, ASHG Senior Director of Policy & Advocacy

Ten years ago today, President George W. Bush signed into U.S. law the Genetic Information Nondiscrimination Act, better known as GINA. The enactment of GINA in 2008 was the culmination of a determined 13-year campaign by congressional champions and advocacy groups, including ASHG, to establish nationwide legal protections against genetic discrimination in the workplace or through one’s health insurance. Today, in recognition of the anniversary and the enduring importance of the law, ASHG is launching a short video to help spread the word about the law.

 

One reason why ASHG has always been a strong supporter of GINA is because it helps reassure the public that they can volunteer for genetics research, or take a genetic test at the doctor’s, without worrying that this will affect their job, their health insurance, or their privacy. It was for this reason that leaders of the Human Genome Project were calling for the establishment of protections against genetic discrimination in the mid-1990s. At the time of its passage, Jo Boughman, PhD, ASHG’s then-Executive Vice President, wrote, “Americans can feel more confident that their personal genetic information cannot be used against them, and encouraged to participate in scientific research studies that require the collection and storage of genetic data.”

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Former President George W. Bush signs the Genetic Information Nondiscrimination Act on May 21, 2008, in the Oval Office.

But GINA is only effective in reassuring the public to the extent that people know about the law. Since its passage in 2008, however, studies have repeatedly shown that most individuals are not aware of GINA or its protections. A 2011 study found that only 16% of Americans knew of any law protecting their genetic privacy. Similarly, a 2015 survey of U.S. residents found that 79% were unfamiliar with GINA. This lack of awareness is found within health care too, with research finding most physicians and nurse practitioners do not know about the law. Together, these studies suggest an ongoing need to raise awareness about GINA if it is to be effective as originally envisioned.

ASHG is playing its part. As well as watching the video, please check out ASHG’s statement about the 10th anniversary; today’s Research!America blog post by ASHG President David Nelson; and a blog post from former ASHG/NHGRI Genetics and & Public Policy Fellow Daryl Pritchard, reflecting on his time working in Congress on GINA.

GINA is designed to prohibit genetic discrimination within health insurance. Since GINA’s passage, there has been ongoing discussion in the genetics community regarding whether there should be similar legal protections in the U.S. against genetic discrimination for ‘the other insurances’ – life, disability and long-term care, protections that go beyond the current patchwork of state laws. Two issues commonly discussed are (a) whether there is a strong, evidence-based case for establishing such protections and, if so, (b) how one would craft such a federal law, or series of state laws, to establish such protections. Let us know your thoughts below, or write to us at policy@ashg.org.

For more information on ASHG programs in policy and advocacy, visit the Policy & Advocacy page.

GINA Turns 10: A Look Back at its Passage

Posted By: Jillian Galloway, Science Policy Analyst, ASHG

As the Genetic Information Nondiscrimination Act (GINA) turns ten, ASHG caught up with Daryl Pritchard, former ASHG/NHGRI Genetics and Public Policy Fellow, to discuss his time in Rep. Louise Slaughter’s office working on the passage of GINA and her legacy as the woman who championed genetic information protections in Congress.

ASHG: Trained as a geneticist, how were you able to work in Rep. Slaughter’s office?

Daryl: The opportunity came through the ASHG/NHGRI Genetics & Public Policy fellowship. The fellowship really opened doors for me. It was how I got to see all of the passion Rep. Slaughter had for genetics and science.

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Congresswoman Louise Slaughter and Daryl Pritchard, 2003 (courtesy Dr. Pritchard)

ASHG: What was your role in Rep. Slaughter’s office?

Daryl: I was the first fellow and needed to find an assignment on Capitol Hill, and was drawn to Slaughter’s office because of the GINA legislation. GINA was a personal priority for me and something Congresswoman Slaughter was deeply passionate about. I took on the role of Health Legislative Assistant that year. As a geneticist, I could contribute to public understanding of the bill, translating the law’s benefits into layman’s terms. Beyond GINA, I would handle any scientific or health policy issue. GINA was the primary reason I was there, but other important health issues were also on the docket.

ASHG: What was your involvement with GINA while working in Rep. Slaughter’s office?

Daryl: It was pretty intense. The bill had first been introduced in 1995 and I was there in 2003. She needed to gain her colleagues’ support for the legislation and educate other members of staff and the public about its importance. So I drafted talking points for public communications and ‘Dear Colleague’ letters to drum up support from her fellow members of Congress. I would represent Louise at various visits and would promote her vision of protections for the American public against genetic discrimination.

ASHG: Why do you think the passage of GINA was so important to her? 

Daryl: She often talked about being the only microbiologist in Congress and being a scientist early in her career. She recognized the importance of scientific research for health and realized that without adequate protections for patients and research subjects, there would be a lingering fear or reluctance on the part of the public to get testing. This, in turn, would stifle the advance of health discovery and the incorporation of genetic information into care.

She had a second motivation as a patient. A clear influence was the death of her sister from pneumonia despite being in doctors’ care. Louise knew genetics was key to improving health, but that if genetic information were used by employers or health insurers, there was a possibility for that information to qualify or disqualify one from coverage or benefits, hiring or firing.

ASHG: What can you tell us about Slaughter’s reaction to the passage of GINA?

Daryl: Louise was really pleased. A lot of hard work, dedication, and time had gone into its passage. To finally get GINA approved as a bicameral and bipartisan piece of legislation reflected her tireless efforts to advance the bill. Referred to as the first civil rights legislation of the new century, it was so necessary for the American public. She believed it was a no-brainer that it should be passed. She congratulated then-President Bush and her colleagues for bringing it to fruition.

ASHG: Ten years after its passage, how can the genetics community help ensure that GINA is implemented as intended?

Daryl: GINA is a great victory for patients and scientists, and you can expect that employers and insurers will continue to challenge it. The genetics community should look at challenges as they arrive and defend the law for its original intent. A key thing to keep in mind is that GINA prohibits even the collection of information by health insurers and employers. Lingering fears about genetic discrimination do not come from a fear of employers’ or insurers’ good intentions, but rather from a concern that genetic data could be exploited or misused. The genetics community should continue to oppose collection of genetic information by employers and health insurers.

ASHG: How is the passage of GINA an example of the impact that the ASHG/NHGRI fellowship has on advocacy?

Daryl: The fellowship promotes the advancement of research and the importance of genetics and genomics. Its impact is far-reaching, and GINA is just one example. Many bills before Congress have a need for genetics and genomics expertise. It is essential that the science is accurately represented in those conversations.

The ASHG/NHGRI fellowship brings the voice of genetics and genomics to legislation and needs to continue to do that by having a presence in different congressional offices. We need to be there. I appreciate the opportunity to have been the first fellow. The experience has been influential in advancing my career.

Daryl Pritchard, PhD, is Senior Vice President of Science Policy at the Personalized Medicine Coalition. He worked in Rep. Slaughter’s office in 2003 through the ASHG/NHGRI Genetics & Public Policy Fellowship.

FDA Takes Steps to Advance Genomics Technology, Encourage NGS-based Test Innovation

Guest Post: Laura M. Koontz, PhD, U.S. Food and Drug Administration 

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Laura M. Koontz, PhD, U.S. Food and Drug Administration (courtesy Dr. Koontz)

Genomics is advancing at an unprecedented pace, a fact that will come as no surprise to members of ASHG who work on the front lines of this exciting field. Over the past few years, the FDA has been working with stakeholders from across the genomics community, including ASHG, with the goal of applying our regulatory authorities to genomics in ways that encourage innovation and ensure that tests provide accurate and meaningful results to patients. Recently, we announced two new FDA Guidances on next generation sequencing (NGS)-based in vitro diagnostics that are intended to encourage further development of these powerful tests and enable more efficient regulatory review by FDA.

The first guidance, “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics,” describes an approach where test developers may rely on clinical evidence from FDA-recognized public databases to support clinical claims for their tests and provide assurance of the accurate clinical evaluation of genomic test results. Using FDA-recognized databases will provide test developers with an efficient path for marketing clearance or approval of a new test. Further, FDA believes that this guidance will encourage crowdsourcing of NGS evidence generation, curation, and data sharing, advancing the development of high quality precision medicine treatments and diagnostics.

The second guidance, “Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS)–Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases,” discusses FDA’s considerations for analytical validation of NGS-based tests intended to help diagnose suspected germline diseases. The Agency believes the analytical validation recommendations laid out in this guidance could spur the creation of consensus standards for NGS-based tests that will be developed by the community and potentially recognized by FDA. Moreover, the guidance articulates FDA’s belief that NGS tests for germline diseases could potentially be classified in class II (moderate risk)  based on conformance to the recommendations in this guidance or to standards that address these recommendations, which would allow FDA to consider exempting them from premarket review.

The Agency believes these guidances will provide test developers with a more efficient path to market, improving FDA’s ability to protect public health by ensuring these tests provide accurate and meaningful results, while at the same time speeding patient access to NGS assays by lowering barriers to innovation. And importantly, the guidances will help to give patients, payers, researchers, and clinicians greater confidence that NGS platforms can reliably be used to inform critical treatment decisions and improve patient outcomes.

To learn more about these two guidances, please join the FDA for a webinar on Thursday, May 24, from 2:00-3:30 p.m. U.S. Eastern Time.

Laura Koontz, PhD, is a member of the Personalized Medicine Staff in the Center for Devices and Radiological Health at the U.S. Food and Drug Administration. She has a PhD in Molecular Biology and Genetics and was the 2012-2013 ASHG-NHGRI Genetics & Public Policy Fellow.

ASHG and FASEB: Working Together to Make a Difference in Advocacy & Policy!

Posted By: Jennifer Zeitzer, FASEB Director of Legislative Relations

The Federation of American Societies for Experimental Biology (FASEB) is the nation’s largest coalition of biomedical researchers, representing 30 scientific societies and more than 130,000 researchers from around the world. As a member of FASEB, ASHG works closely with FASEB and the other member societies to advance research and education in biological and biomedical sciences and advocate for increased funding for biomedical research. Through FASEB, ASHG also monitors and regularly speaks out on science policy issues impacting the scientific community.

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Jennifer Zeitzer, FASEB Director of Legislative Relations

For example, ASHG recently joined FASEB in celebrating the historic $3 billion dollar increase for the National Institutes of Health (NIH) approved by Congress in late March. Securing the increase was a collaborative effort between many organizations. ASHG urged its members to email and call their elected officials and sent two Board members to FASEB’s Capitol Hill Day to make the case for NIH funding with their members of Congress.

This month, Congress began consideration of the fiscal year (FY) 2019 budget, and ASHG and FASEB are again working together to advocate for increased NIH funding. There is a good chance NIH will receive another significant funding increase in FY 2019, thanks to legislation passed in February to raise strict spending caps that were enacted in 2011. The appropriations committees will determine how that additional funding is divided among federal agencies.

Making sure NIH gets another increase will require additional coordinated advocacy between ASHG and FASEB over the next few months. More information is forthcoming, but ASHG members should expect to receive e-alerts from FASEB as well as reminders to check out the resources and tools in the ASHG Advocacy Center.

ASHG members also have access to FASEB’s Advocacy Toolbox, which includes instructions for requesting a meeting with a member of Congress at home and tips for communicating with elected officials through social media. The Washington Update newsletter provides the latest news on science policy and advocacy inside the Beltway and from federal agencies (click here to subscribe).

Communicating about science is another area where ASHG partners with FASEB. The Human Microbiome and Individualized Medicine: Genetically Fine-Tuning Prevention, Diagnosis, and Treatment of Disease are articles in FASEB’s Breakthroughs in Bioscience series that illustrate genetics-related developments in biomedical research and their importance to society. Similarly, the Horizons in Bioscience one-pagers, including articles on liquid biopsies, CRISPR/Cas gene editing, epigenetics, and optogenetics, summarize scientific discoveries on the brink of clinical application and supplement the longer Breakthroughs.

The recent $3 billion increase for NIH and other advocacy successes would not have been possible without the joint effort between FASEB and its member societies. As Congress makes decisions about the 2019 budget, FASEB is proud to have a strong partnership with ASHG to ensure that the voices of scientists are heard on Capitol Hill and in congressional districts across the country.

Jennifer Zeitzer has been the Director of Legislative Relations at FASEB since 2008. She coordinates advocacy efforts with FASEB member societies and others in the biomedical research community, including organizing FASEB’s annual Capitol Hill Day.

FASEB offers free webinars on advocacy and policy issues. Sign up to receive notifications about future FASEB webinars here.

Representing ASHG and Genetics at FASEB’s Capitol Hill Day

Posted by: Neil Hanchard, MD, PhD, ASHG Board Member

I don’t consider myself to be particularly ‘political’; however, the last two Presidential budgets have included closing the U.S. Department of Agriculture-funded building that houses my lab and office. This has made me keenly aware that the science we do doesn’t occur in a vacuum. I thus consider myself particularly fortunate to have had the opportunity to participate in FASEB’s Capitol Hill Day (March 8) as a representative of ASHG. This now annual event brings scientists from across FASEB’s 31 experimental biology societies – including ASHG – to the Capitol to lobby for their own science. It’s timed to coincide with annual budget making season and, since it’s been going on longer than any of the more than 50 fellow scientists in the room knew for sure, it’s a central piece of FASEB’s public policy engagement.

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L-R: James Musser, FASEB President-elect; Sharma Prabhakar, AFMR; and Neil Hanchard, ASHG Board Member.

For me, getting up close and personal with the machinations that enable the science engine was a truly fascinating experience. The DC-based staff of FASEB and ASHG essentially do this all the time and, accordingly, were like a well-oiled sequencer. They did an amazing job of prepping first time scientists-come-lobbyists (like myself) – hosting prep sessions well before the event, as well the night before and morning of. Plus, they ensured that everyone was suitably armed with critical talking points for their State representatives and glossy summary pamphlets to go along with them. After a day running around (literally) meeting with State representatives’ aides in the halls and offices of the National’s Capitol, here are my top 5 takeaways:

  1. There is strength (and comfort) in numbers. FASEB represents ~130,000 scientists in the U.S. and around the world – that’s not a trivial number and the powers-that-be know it.
  2. The Capitol is very large. It’s a mind-boggling maze of offices and hallways, with a subway linking the two houses to boot. With multiple 10-15 minute meetings strewn across the “The Hill”, there’s no way we could have done it on our own – the FASEB facilitators, who included our own ASHG staff, knew not only where we were going, but each of the representatives’ voting and stances on science issues as well.
  3. There is an art to the lobby. There’s an etiquette to lobbying, with polite, often unwritten rules of how to deal – the mandatory exchange of business cards (which I forgot – whoops!); the pitch, the pivot (when you’ve lost your audience); the parting promises and closing invitations – a well-rehearsed dance that, performed well, can be the difference between a “yea” and a “nay”.
  4. Everyone wants their piece of the pie. The Lobby dance is performed by umpteen groups this time of year – if there’s a group you can think of, they were probably there. For scientists to get the funding they need to continue doing good science, they should remember that “the squeaky wheel gets the grease.”
  5. Science is bipartisan. Somewhat surprisingly for me, the pitch for NIH, NSF, and USDA science was well-received at all of the Texas representatives’ offices we visited, irrespective of party affiliation. I also learned of several unheralded champions for science from both sides of the political aisle.
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After a chance hallway meeting with Rep. Al Green, the Texas group sat down with Rep. Green’s staffer to discuss the importance of biomedical research.

All in all, this was a truly enlightening and emboldening experience; honestly, if I can do it, pretty much anyone can, and there’s a strong argument that any and all scientists should – host a representative in your lab, visit your local representative’s office, make the phone call/sign the email – as jaded as I was about the process at the start, it was heartening to know that it can actually make a difference.

Neil Hanchard, MD, PhD, FACMG, serves as Early-Career Member of the ASHG Board of Directors. He is an Assistant Professor and Clinical Geneticist at Baylor College of Medicine and Texas Children’s Hospital, and has been a member of ASHG since 2010.

Help Secure $2 Billion More for NIH!

Posted By: Derek Scholes, ASHG Director of Science Policy, and Jillian Galloway, Science Policy Analyst

Take Action Now

On Monday, the Office of Management and Budget rolled out the President’s budget request for Fiscal Year (FY) 2019. Although Congress ultimately determines federal spending, the President’s budget sets the tone for the nation’s domestic and international priorities. The proposed budget for the Department of Health and Human Services (see page 40) suggests $34.8 billion for the National Institutes of Health (NIH). While this represents an increase over the current funding for NIH, most institutes at the NIH funding genetics research would see their funding cut. In response, ASHG President David Nelson issued a statement expressing disappointment and the Society’s enthusiasm for working with congressional leaders to sustain ongoing investments in biomedical research.

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U.S. Capitol (Credit: National Park Service)

With the FY 2019 announcement coming from the White House this week, you might assume that Congress has finished its work for funding FY 2018. But you’d be wrong! After several months of debate and delay, and a couple of brief government shutdowns, Congress is finally entering the home stretch. As you may have heard, last Friday Congress passed legislation allowing spending caps on federal programs to increase by $296 billion. The passage of this legislation also established a deadline of March 23 for Congress to determine how much funding to allocate to each federal agency in FY 2018, including for NIH. Therefore, now is the time to contact your members of Congress about why sustained federal funding for human genetics research is so important.

The FY 2018 funding story to date has been complicated, so let’s briefly recap what’s happened so far. Congress was unable to pass legislation to establish FY 2018 funding for federal agencies by the September 30, 2017 deadline established by law. Since then, Congress has been passing a series of Continuing Resolutions, or CRs, to allow the government to continue to function. These have been necessary because Congress has been unable to reach agreement on overall levels of funding in FY 2018 and what the funding of each agency should be. The passage of last week’s budget agreement between Republicans and Democrats marks a significant hurdle in overcoming this impasse.

For NIH specifically, there are two alternative proposals on the table for FY 2018. House appropriators have proposed $35.2 billion for the agency, an increase of $1.1 billion over the FY 2017 funding of $34.1 billion. A Senate proposal goes further, supporting a $2 billion increase to $36.1 billion. Over the past several months, ASHG and its partners within the Federation of American Societies for Experimental Biology (FASEB) have been working with the larger biomedical research community in making the case for a $2 billion increase. These numbers stand in stark contrast to the Administration’s proposal to cut funding for NIH by an unprecedented $7 billion cut to $26.9 billion.

To secure the $2 billion increase for NIH, your Senators and Representatives need to hear from you now! Please go to our Advocacy Center to send a personal appeal to your elected representatives about the impact of federal appropriations on your research and/or institution, urging them to support a $2 billion increase for NIH. Your story matters: Emphasizing the important role federal funding makes to your genetics work is imperative for making the case, more generally, for scientific discovery as a national priority. Take action today and make sure your voice is heard on Capitol Hill.

For more information on ASHG programs in policy and advocacy, visit the Policy & Advocacy page.

Reflections on My Experience as a Genetics & Public Policy Fellow

Posted by: Christa Wagner, PhD, 2016-17 ASHG/NHGRI Genetics & Public Policy Fellow

If you had asked me when I started my PhD if I could envision myself working in public policy, including as a staffer in the U.S. Senate, I would have said no way! But this reality is the beauty and excitement of the ASHG/NHGRI Genetics & Public Policy Fellowship, which has exposed me to policymaking in the executive and legislative branches of the U.S. Government, as well as with the Science Policy Department at ASHG.

As a graduate student at the Johns Hopkins University School of Medicine, my research on a complex genetic disorder that often results in immune deficiencies opened my eyes to issues in bioethics and policymaking. I wondered how non-scientists in state and federal law-making bodies were informed about the scientific and health implications of their policies. I stepped out of the box and took a short leave of absence from graduate school to work with the Policy Director at the Ovarian Cancer National Alliance in Washington, D.C., and was hooked.

Breaking the Ice

The Genetics & Public Policy Fellowship has been essential and a life-changing experience in my transition from an academic research environment into policy and advocacy. I began my fellowship in the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute (NHGRI). I helped the team keep up with new legislation in Congress and with regulations in other agencies that would affect NHGRI researchers and grantees. I helped assemble the FY2018 Congressional Budget Justification, which each agency compiles yearly to outline financial needs and highlight program successes and goals. Since 2016 was an election year, I also helped to draft the presidential transition team documents, again outlining the important work being conducted by intramural and extramural researchers at NHGRI.

Lessons in Drinking from a Fire Hose

My second rotation was a primer in hitting the ground running, as I joined the office of Senator Sherrod Brown just before Inauguration Day in January 2017. I worked on a broad range of issues in healthcare and biomedical research, including Medicare and Medicaid, infant mortality, the opioid addiction crisis, antibiotic resistance, drug pricing, and rare diseases.

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Making a trip to Capitol Hill with Genetics & Education Fellow Teresa Ramirez (credit: NHGRI)

My daily activities varied, but generally involved meeting with Ohio constituents (including graduate students!) to discuss their legislative concerns, as well as drafting bills, letters, and memos, and preparing the Senator for Senate committee hearings. I also managed Senator Brown’s health-related appropriations requests for FY2018, and represented the office in communicating with stakeholders after a blood lead level testing kit was recalled by the FDA and CDC over the summer. Additionally, I found ways to stick to my genetics roots, and in April combined DNA Day with Take Your Children to Work Day by encouraging my colleagues and their kids to celebrate by extracting strawberry DNA in our office conference room!

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Senators do care about science! (credit: Sherrod Brown via Twitter)

Coming Full Circle

I am wrapping up my fellowship by working with the science policy team at ASHG this fall. I think ASHG members would be surprised to see all that happens behind the scenes here, and I’ve enjoyed bringing the experience I’ve gained through my government rotations back to a scientific society.

At ASHG, I’ve been able to fulfill my primary goal of the fellowship: to use my knowledge and skills in bridging the gap between legislators in Washington D.C. and ASHG members. I used my scientific background to educate Society and Congressional staff about advances in gene editing technology in preparation for a Senate hearing. I also authored blog posts about changes to the NIH definition of clinical trials and FDA oversight of genomics research, and worked with ASHG members to develop a comment letter to the National Academies Committee on return of individual-specific research results.

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Meeting Canadian Senator James Cowan, ASHG Advocacy Award recipient, at the ASHG 2016 Annual Meeting (credit: ASHG)

Looking to the Future

Overall, the fellowship has been a wonderful and successful experience in solidifying my interests and informing my career trajectory. It has shown me the translatability of my research skills and allowed me to cultivate a distinct and highly valuable analytical skillset. This fellowship has opened my eyes to the incredibly diverse health and science policy worlds, teaching me how to take creative approaches to policy changes and build effective collaborations.

I am further thrilled to be joining the ranks of a wonderful fellowship alumni community. Previous fellows have been instrumental in helping me during this entire experience, from offering suggestions on Capitol Hill rotations to career advice and networking. I look forward to carrying along these relationships and experiences to my next role working in policy and advocacy on the Government Relations team at the Association of American Medical Colleges beginning in 2018.

And finally, thank you to ASHG and NHGRI for continuing to support this fellowship. I look forward to remaining a member of this community and to welcoming future classes of fellows!