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.

Elevate Your ASHG 2018 Abstract – Here’s How

Posted By: Heather Mefford, MD, PhD, Chair, ASHG 2018 Program Committee

Every year, I look forward to getting an early look at all the exciting developments presented in ASHG abstracts. As an abstract scorer, I am even more enthusiastic when the abstract is easy to read and evaluate. Read on for tips to elevate your abstract during scoring and get started writing.

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2018 Program Committee Chair Heather Mefford, MD, PhD (courtesy Dr. Mefford)

→ Ready to submit? Visit the abstract submission site.

Start Early and Get Organized

When scoring an abstract, I generally do a quick read through the abstract to get an overall feel for the study being presented. During this first pass, I also try to get a sense for how organized/well-written the abstract is as well as a sense for how ‘excited’ I am about the content.

I then do a more careful read to determine: (a) is the aim (hypothesis) of the study clear? (b) are the methods clearly outlined? (c) are there results presented – not just promised – in the abstract? Do the results seem valid?

These may seem like simple things, but I can’t emphasize enough the importance of a well-organized abstract that is easy to follow. If the reviewer has to work too hard to figure out what the abstract is about, it will be difficult to score it well.

Give Your Work Context

Although reviewers are all ASHG members, and we try to select reviewers with sub-topic expertise, remember that your reviewers may not be experts in your specific area. Your abstract should be clearly written with enough background to put your research into context and highlight the importance of your data. Don’t put it off until the last minute – give yourself time to draft the abstract and to get input from others before you submit!

Submit Exciting and Mature Work

The highest-scoring 10 percent of >3000 submitted abstracts are awarded speaking slots, and only twelve of those are chosen for plenary talks. Abstracts that make good plenary talks address all of the points above. In addition, they present results that are novel and that represent a significant advance in the field. Often, the work presented is fairly ‘mature’, but this doesn’t mean the project has been going on a long time. The work presented has a clear hypothesis, approach, and results that represent a new finding.

Did You Know?

Abstract reviewers dedicate 4-6 hours to score approximately 150 abstracts in just one week. I always learn a lot when reviewing abstracts! I think you really get a feel for what is up-and-coming in the field, and it’s a good experience that is helpful for writing your own abstracts in the future. The hardest part is that it is time consuming. You want to make sure you are giving each abstract full consideration, and that just takes time.

ASHG’s double-blinded review process is important for scoring and selecting the best abstracts. It decreases bias in that the reviewer does not know from which lab or institution the abstract is coming, whether the first author is a student, fellow, junior faculty, or PI, or what the gender of the submitter is. I think that reviewers appreciate the blinding as much as the submitters.

Submit by June 7, 2018, to have your work considered for ASHG 2018. Then, check out the overview of ASHG’s abstract review process and register to see all your colleagues’ impressive research.

Heather Mefford, MD, PhD, is Chair of the 2018 Program Committee. She is an Associate Professor of Pediatrics & Genetic Medicine, Director of the Mefford Lab at the University of Washington, and Deputy Director of the Brotman Baty Institute for Precision Medicine. She has been a member of ASHG since 2006.

 

 

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.

Celebrate DNA Day 2018 with ASHG

Posted By: Jannine Cody, PhD, Chair, ASHG Information & Education Committee

Happy DNA Day! Every April 25, we commemorate the discovery of DNA’s double helix structure in 1953 and the completion of the Human Genome Project in 2003, two key milestones in genetics. A variety of DNA Day events are taking place worldwide and online, including the debut of our ’15 for 15′ infographics on recent advances in human genetics – check them out!

ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest. Open to high school students worldwide, this year’s contest asked students to share their views on whether medical professionals, such as medical geneticists or genetic counselors, should be required for all genetic testing, or if consumers should have direct access to predictive genetic testing.

We received over 1000 entries from 43 U.S. states and 23 countries. Essays went through three rounds of scoring by ASHG members, who selected a first, second, and third place winner as well as 10 honorable mentions. (Want to participate next year? Read Dennis Drayna’s blog post on the judging experience.)

The winning essays were thoughtful and nuanced, reflecting a variety of views and a sophisticated consideration of the issues, and we were excited to see high-quality entries from several countries around the world. We awarded first place to Diane Zhang, a junior at Fox Lane High School in Bedford, N.Y.; second place to Ilan Bocia, a senior at YULA-Boys in Los Angeles, Calif.; and third place to Nadia O’Hara, a freshman at Pechersk School International in Kyiv, Ukraine.

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For a full list of winners, honorable mentions, and teachers, and to read the winning essays, check out the DNA Day 2018 Winners. Through this contest and our other K-12 initiatives, we hope to encourage young people to explore genetics and inspire the next generation of ASHG members and leaders.

Jannine Cody, PhD, Professor of Pediatrics at the University of Texas Health Science Center at San Antonio, is Chair of ASHG’s Information & Education Committee. Learn more about ASHG’s K-12 education programs.

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.

Following the Path of ASHG’s Statement on Pediatric Genetic Testing

Posted By: Cara Cavanaugh, MSc, Cell Press

What happens to a paper once it is published? After the research is over, the proofs are reviewed, and the paper is out in the world, how is it used and by whom?

To answer these questions, we traced the post-publication trajectory of ASHG’s position statement, “Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.” The statement was published in The American Journal of Human Genetics (AJHG) in 2015 and was an update from two decades earlier. Following the history of the paper since its publication shows us the reach that an ASHG position statement can have over three years.

About the Position Statement

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Published in 2015, the statement has been cited by a variety of sources, including academic, legal, and public discourse.

The position statement gives recommendations for when and why families should decide to perform genetic tests on children and adolescents. “We felt that it was timely to update the statement across a range of issues,” says first author Jeffrey Botkin, MD, MPH, a professor and chief of the Division of Medical Ethics and Humanities at the University of Utah. “Our primary focus was genetically testing children for adult-onset conditions when there is no intervention during childhood. There hasn’t been a lot of research on the impact of such testing because folks felt that it was unethical under any context. We wanted to soften the perceived stance that such testing should never be conducted and have the position of the society be a little more flexible. We recognize that there may be circumstances when such testing might be appropriate for the child and family. We also wanted to encourage more research on these issues.”

Academic Citations and Public Conversation

Since its publication, the position statement is one of the top downloaded papers in AJHG’s history, with over 5,000 downloads as of 2018. After publication, to make the content more accessible to readers, ASHG created infographics that explain the issues and intricacy around childhood genetic testing. The paper has been cited by Genetics in Medicine, Pediatrics, Blood, Nature Reviews Genetics, and more than 80 other academic titles.

The statement has also been cited outside of the scientific research context. For example, it has impacted legal academic discourse. In one 2016 paper, Sénécal et al. discuss the legal approaches to healthcare decisions for minors in the European Journal of Human Genetics to the ASHG position statement as a “more nuanced approach” to how genetic testing should be pursued. They praise the statement for advising that physicians should inform families of all genetic testing options, even if the family has decided not to pursue any tests. Another paper by Otero in the European Journal of Health Law uses the position statement in a narrower context, specifically to analyze European and Spanish legal frameworks. These papers are just two of several examples of how one position statement from scientists can contribute to legal analysis internationally.

In addition to the academic studies discussed above, the position paper was also featured in the mainstream media. It gained coverage in NPR, VICE, and Pacific Standard. Exposure in these news sources helped engender public conversations online about the ethics of genetic testing in children.

What’s Next?

This paper shows the broad reach the ASHG community has in important societal and cultural issues of our time. As genetic testing appears more frequently in the news and becomes increasingly controversial, especially with products like direct-to-consumer genetic testing kits, it is imperative that we fully debate and consider how this could affect children and adolescents. ASHG policy statements, like the one published in 2015, provide us with long-lasting resources for continuing those discussions.

Cara Cavanaugh, MSc, is a Marketing Contractor at Cell Press. She earned a BA in History of Science from Princeton University and a MSc in Science Communication from Dublin City University while on a Fulbright Award.