Announcing: AJHG “Perspectives” Series on Issues Confronting Human Genetics and Influencing Research

Posted By: David L. Nelson, ASHG President 

As part of our ongoing commitment to address how genetic findings are used in society and to foster discussion within the field and the public, I am pleased to announce that ASHG is launching a new “Perspectives” series of short statements this month, which will be published periodically in The American Journal of Human Genetics.

The first topic targets disturbing and scientifically flawed attempts to link genetics with racial supremacy. The statement denounces such attempts, stating that there can be no genetics-based support for claiming one group to be superior to another.

Read the statement on AJHG’s website.

We decided to address this important issue in the series’ first statement, recognizing that there has been a resurgence of bogus claims that racial supremacy has scientific roots. The statement explains that humans cannot be divided into biologically-distinct subcategories, given the considerable genetic overlap among members of different populations, and asserts clearly that genetics exposes the concept of ‘racial purity’ as scientifically meaningless.

This statement reflects a continuation of ASHG’s objection, over decades, to the misuse or twisting of human genetics findings for political or social ends, including past ASHG statements on genetics, ancestry, and intellectual ability and the consequences of eugenics; and more recently, my piece in the September member newsletter on the Society’s origins and early discussion of its purpose and role.

AJHG Perspectives: A Channel for Timely Discussion

Statements in the new series will address a variety of important topics in human genetics and its interface with society, reinforcing the Society’s and Journal’s role as a leading source of emerging human genetics science. They will offer timely, concise viewpoints on topics in research, health, and society that have been prioritized by the Board; will address how scientific research informs those issues; and may assert Society policy positions or note important related field activities.

Statements will also refer readers to a range of lengthier academic or other relevant work. They do not strive to cover the breadth and depth of each issue but rather to draw on, complement, and highlight the need for continuing research and member engagement.

AJHG has long been a leading home for discussion and debate about emerging science across human genetics. We are enthusiastic about this new feature, which will help ensure that scientific facts, findings, and open discussion inform larger societal dialogue,” said Bruce Korf, MD, PhD, Editor-in-Chief of AJHG.

Read an editorial announcing the new Perspectives series.

Fostering Discussion Within and Outside the Scientific Community

As research in human genetics continues to advance, it is opening new pathways of understanding and treatments that are saving lives. At the same time, ASHG has long been committed to addressing how these findings may be used in society, and we hope this new series will spark individual scientists to be increasingly vocal in discussing what the science does, might, and doesn’t say about a wide range of important issues, even—perhaps especially—when there is disagreement.

Individual members of our Society are knowledgeable, thoughtful, outspoken, and diverse in their views – these are the traits that push our field forward and help us collaboratively and thoughtfully address complex issues. Members, I encourage you to speak out, in your own voices, to represent your individual views as genetics experts on this and other important topics.

Given ASHG’s broad community of researchers, clinicians, ethicists, and other professionals, we anticipate perspectives on many topics may spark a diversity of dialogue, with strongly held perspectives on the science. We look forward to continuing that discussion through the pages of AJHG and hope to spark ongoing, constructive dialogue in the laboratory, classroom, clinic, and across the broad range of colleagues interested in human genetics.

David L. Nelson, PhD, is 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. 

How Companies Can Safeguard Consumer Genetic Data

Guest Post By: Carson Martinez, Future of Privacy Forum

Consumers’ interest in accessing their genetic information has boomed, as companies bring increasingly affordable consumer genetic and personal genomic testing services to market. With more testing services available than ever before, it is estimated that more than 12 million consumers have signed up in recent years to explore the insights that can be drawn from their genes.

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Carson Martinez, Future of Privacy Forum (courtesy Ms. Martinez).

With many of these genetic testing services, individuals can share their genetic data with academic researchers or pharmaceutical researchers, and after reviewing an informed consent notice on potential risks, many choose to participate. By providing the research community the ability to analyze significantly larger and more diverse range of genetic data, individuals have helped researchers discover important breakthroughs in biomedical research, healthcare, and personalized medicine.

If consumers are to safely share this information, the sensitive details revealed by genetic data need to be safeguarded by companies. Genetic data is one of the most intimate types of information, as it may be used to identify predispositions and potential risk for future medical conditions, and may reveal information about and even implicate an individual’s family members, including future generations. And as we have seen in recent cases like the Golden State Killer, it also can be used as a powerful investigative tool by law enforcement.

Although laws such as the Genetic Information Nondiscrimination Act of 2008 protect against discriminatory uses of genetic data by employers and health insurers, consumers also need to be certain that companies will respect the privacy of their genetic data and give them strong controls over how it is used and shared.

With this in mind, I and other speakers will be discussing the privacy of personal genetic information at the ASHG 2018 Policy Luncheon, taking place Thursday, October 18.

As a think tank focused on helping chief privacy officers navigate privacy challenges and incorporate ethical data practices, the Future of Privacy Forum (FPF) believes that emerging technologies like consumer genetic tests are valuable, but that protecting individual privacy is core to the success of any industry. In this nascent industry, there is a need for strong guidelines.

To that end, FPF together with 23andMe, Ancestry, Helix and other leading consumer genetic testing companies released Privacy Best Practices for Consumer Genetic Testing Services this summer to develop a policy framework for the collection, use, and sharing of consumer genetic data.

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Privacy best practices for consumer genetic testing services (Courtesy Ms. Martinez).

Incorporating input from a wide range of stakeholders including the Federal Trade Commission, genetics experts, and privacy and consumer advocates, the document:

  • sets forward consumer rights to access and delete their genetic data;
  • requires informed consent for sharing genetic data for research;
  • bans the sharing of genetic data with third parties (such as employers, insurance companies, and educational institutions) without express consent;
  • requires valid legal process for disclosing genetic data to law enforcement; and
  • requires notice and consent for material changes to the policy and transfer of ownership, among others.

The Best Practices is supported by: Ancestry, 23andMe, Helix, MyHeritage, Habit, African Ancestry, FamilyTreeDNA, and Living DNA.

Carson Martinez is a Health Policy Fellow at the Future of Privacy Forum and leads FPF’s Health Privacy Project. To learn more about the Best Practices, attend the Policy Luncheon at the ASHG 2018 Annual Meeting in San Diego.

Bringing Us Closer to Understanding Health and Disease at an Individual Level

Guest Post: Ed Ramos, PhD, All of Us Research Program

The National Institutes of Health supports groundbreaking research and biomedical studies that seek to enhance and improve health. On May 6, it took a big step in pushing the envelope further by launching the All of Us Research Program.

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Edward Ramos, PhD, All of Us Research Program, NIH (courtesy Dr. Ramos)

Currently, people joining the program will have the choice to answer questions about their demographics, overall health, and lifestyle behaviors. Participants will also be asked, but not required, to authorize access to their electronic health record data, which is a significant source of clinical information about a person’s health history. We have established an expanding network of clinic sites around the country where some participants will be invited to give physical measurements and biospecimens for future assays and research. The program plans to begin genotyping and sequencing participant DNA next year.

All this data will be stripped of obvious identifiers and made available to researchers, who could range from students and citizen scientists to established investigators. They’ll have to apply to access the information and abide by a data use agreement. Also, participants will be able to access their own data and see how researchers are using it. All of Us is building the data resource now and expects it to be open for research in 2019. The resource should grow quickly as data from electronic health records, genetic analyses, wearables, and other sources are added.

The All of Us Research Program recognizes that the information participants are providing is personal and sensitive, and security and privacy are of the highest importance to the program. The program is working hard to establish and maintain a secure infrastructure that supports a participant-focused recruitment and enrollment process. For example, the program has implemented security features that meet rigorous federal standards for protecting and securing data.

So what is my role in all of this? As someone who has spent several years exploring human genetic variation as it relates to disease and drug response, I would love to be on the receiving end of all this data! I play an equally exciting part in All of Us as the program director of The Participant Center, which manages overall operations for All of Us’s “direct volunteer” enrollment across the country. The Participant Center has established a phenomenal set of national partners, such as Walgreens, Blue Cross Blue Shield, WebMd, and Fitbit. These partners are helping expand our national reach for clinic sites, developing national and local marketing and outreach strategies, and exploring data collection through various digital health technologies.

While my research interests align with All of Us’s scientific vision, I always find myself most attracted to this program for personal reasons. I lost my father to pulmonary fibrosis, helped my mother control her diabetes, and have stayed up many nights trying to alleviate my son’s asthma. Perhaps it’s safe to say that many of us, maybe even all of us, have similar stories. I’m honored to be a part of something that could potentially bring us one step closer to better understanding health and disease at an individual level.

Edward Ramos, PhD, is a member of the All of Us Research Program at the National Institutes of Health. He has a PhD in Molecular Biotechnology and was the 2006-2007 ASHG-NHGRI Genetics & Public Policy Fellow.

Biology of Genomes 2018: The Past and Future of Genomics

Posted By: Emily C. Glassberg, PhD Candidate, ASHG Communications Committee

A few weeks ago, I attended the 31st annual Biology of Genomes (BoG) meeting at Cold Spring Harbor. In addition to highlighting the amazing research that comprises the current state of genomics, this meeting highlighted the storied past and bright future of the field. The enthusiastic participation of attendees, both at the meeting and on Twitter, shows incredible energy and momentum as we try to understand the genome’s role in biology, evolution, and disease.

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Attendees network at Biology of Genomes 2018 (Credit: Constance Brukin; copyright CSHL)

Genomics Present

The seven scientific sessions covered functional genomics, medical genomics, computational genomics, and evolutionary genomics, as well as genome engineering. Seeing this varied body of work at a single meeting clearly demonstrates that theory, experiment, high-throughput screening, and countless forms of new technology and data analysis all play central roles in shaping our current understanding of the human genome.

And, while the human genome was the primary subject of study, non-human genomes got coverage as well. Highlighted research included the genomes of near relatives, like Neanderthals; to those of best friends, like dogs; to those of model organisms, like yeast. Crowd favorites included Jaemin Kim’s and Elaine Ostrander’s talks using dogs as a system to learn about the genetic basis of complex traits (for the science as well as the adorable pictures).

The scientific programming also included two keynote speakers, Wendy Bickmore and David Page. Bickmore discussed her group’s work on how 3D chromatin structure relates to the mechanism by which enhancers – particularly long-range enhancers – interact with promoters to regulate gene expression.

Bickmore’s emphasis on the need to assay enhancer function in vivo was echoed elsewhere at the meeting. In particular, Emma Farley spoke about high-throughput measurements of enhancer function in the model chordate Ciona. In combination, these talks sparked a conversation about whether current computational models are looking in the wrong places when it comes to predicting enhancer activity and specificity.

Page presented his group’s work on the evolution of sex chromosomes with an eye to understanding sex differences in health and disease. Page’s question of whether and how males and females “read their genomes differently” connected to broader questions that recurred throughout this year’s meeting –  how do we understand the genome dynamically? When and how does the same genome lead to different outcomes?

The ways in which the genome and its downstream effects change over time and space is a big open question, and this year’s BoG showcased many approaches to tackling it:

  • Ben Strober and Jonathan Griffiths both used time-course gene expression data to track how gene regulation changes throughout cellular differentiation and development.
  • Jake Yeung shared an example of dynamic chromatin interactions and rhythmic promoter-enhancer contacts that are connected to circadian rhythm.
  • Christina Leslie presented work on how the chromatin state of tumor specific T-cells changes during cancer progression and how that influences disease treatability.

And that’s just a sample of the exciting work in this space! While we don’t yet have clear answers to these questions, the research discussed at BoG reveals a landscape that is complex, nuanced, and fascinating. What a great time to be in genomics!

Genomics Past

In addition to discussions spanning the range of the current field of genomics, BoG included a brief talk in memoriam of molecular and developmental geneticist John Sulston, who passed away on March 6, 2018. Dr. Sulston was well known for his seminal work in the now-model organism C. elegans, as well as his role in the Human Genome Project. Eric Lander also toasted Jim Watson for his role in the Human Genome Project, and to celebrate his 90th birthday. Lander and other BoG organizers later apologized for the toast, as it was seen by many in the community as minimizing Watson’s history of racist and sexist commentary.

Genomics Future

And, finally, no meeting would be complete without a vision for the future of the field.

A panel on the Ethical, Legal, and Social Implications of genomics research included four perspectives on the promises and pitfalls of germline genome editing. While there is considerable excitement around using CRISPR to cure genetic disease, many issues remain regarding proof of safety as well as ensuring equal access to the technology. Following a lively discussion during the question-and-answer, the consensus seemed to be that germline genome editing is a distant future. In the meantime, we can focus on the application of currently available options, like genetic screening and assisted reproductive technologies.

The National Human Genome Research Institute (NHGRI) also engaged researchers in its current strategic planning initiative, which began in February 2018 and will be completed in 2020. NHGRI is collecting input on priority areas to help the institute live up to its mantra, The Forefront of Genomics.

Of course, the scientific discourse at Biology of Genomes isn’t limited to the talks. The three lively poster sessions were great opportunities to exchange ideas. And many spirited discussions took place during the coffee breaks, over the traditional Cold Spring Harbor banquet, and down at Blackford bar. All told, there’s a lot to look forward in genomics!

Emily C. Glassberg is a PhD Candidate in the Department of Biology at Stanford University. She serves on ASHG’s Communications Committee and has been an ASHG member since 2014.

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.

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.