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.

How I Work: Marsha Michie

Posted by: Anna Miller, PhD student, Case Western Reserve University

We sat down with ASHG member Marsha Michie, PhD, Assistant Professor of Bioethics at the Case Western Reserve University School of Medicine, to learn more about her research on the ethics of biomedical research and practice.

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Marsha Michie, PhD, Case Western Reserve University School of Medicine (courtesy Dr. Michie)

ASHG: Tell us about your position and how it fits into your institution and its goals. 

Dr. Michie: I am a social scientist and empirical bioethicist, meaning that I conduct research on topics related to the ethics of biomedical research and practice. My main areas of interest are the translation of genetic/genomic and related technologies from research into clinical care, and the impact of genetic information on patients and families, particularly in the perinatal period. I also teach and mentor students and trainees in topics related to bioethics.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Dr. Michie: I subscribe to quite a few news sources and blogs in genetics, including GenomeWeb and news from ASHG and ACMG. Because so much of my research is about how new genetic technologies are developed and used, I keep in touch and collaborate with genetic scientists, clinicians, and genetic counselors to make sure I am up to date and have a clear understanding of the newest developments in the field.

ASHG: What are your favorite genetics websites and Twitter feeds?

Dr. Michie: GenomeWeb, TheDNAExchange.com, StatNews, @hail_CSER, @GA4GH, @eshgsociety, @GeneticCouns, @GenethicsForum, @GeneticsSociety, @TheACMG

ASHG: What are you currently reading/thinking about?

Dr. Michie: I was just funded by NHGRI to study how parents prepare for a child with a genetic condition after they receive prenatal test results. I’m also working a lot on ethical issues around CRISPR, especially ways to incorporate the views of patient communities into ethical guidelines, and am spending a fair amount of time looking into infant and maternal mortality.

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Dr. Michie: I’m pretty good at calming other people (students, colleagues) down when they are nervous or anxious, and helping them see the big picture. If only I could apply that superpower to myself!

Marsha Michie, PhD, is an Assistant Professor of Bioethics at the Case Western Reserve University (CWRU) School of Medicine, and has been an ASHG member since 2013. Find her on Twitter at @marshamichie!

Anna Miller is a PhD student in Genetics and Genome Sciences at CWRU, and has been an ASHG member since 2019. 

ASHG/ESHG Building Bridges: Tackling Global Questions Together

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

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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.

Defining the Responsibility to Recontact Research Participants

Posted By: Staff

This week, ASHG and eight partner organizations issued a position statement outlining whether, and to what extent, there is a responsibility to recontact genetics and genomics research participants when new findings emerge that suggest their genetic information should be interpreted differently.

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Today, ASHG and partner organizations issues a statement in AJHG addressing the responsibility to recontact research participants.

Variants of uncertain significance get reclassified at a relatively high rate – up to half of such variants have been reclassified in the past decade. One paper found that 12% of these reclassifications had the potential to alter clinical management.

We sat down with Yvonne Bombard, PhD; and Howard Levy, MD, PhD, lead authors on the statement, to get their take on the issue.

ASHG: Why did the Social Issues Committee tackle this topic?

Yvonne: Genetics and genomics researchers are at the forefront in collecting and analyzing data related to sequence variant interpretations, which is continuously evolving. This means that a variant’s clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis.

While clinical recommendations on the responsibility to recontact research participants with such reinterpretations have begun to emerge, the Social Issues Committee decided to tackle this topic because there is a lack of guidance on the responsibility for researchers. We were fortunate to have collaborative partners on our Workgroup from clinical, research, and laboratory settings across various countries and jurisdictions. The statement reflects their synergistic efforts and the care these members took to carefully craft a comprehensive set of recommendations.

Howard: Perhaps the most obvious but most important concept in this position statement is the recognition that recontacting individuals to keep them abreast of new knowledge is a desirable and laudable goal. The problem is that we live in a world of limited resources, and the cost of achieving this goal can be onerous.

As Yvonne points out, there is only limited guidance on recontact in the clinical arena, and none in the research arena. ASHG and our partner organizations are fortunate to count among our memberships expert clinicians, researchers, laboratorians, educators, counselors, social scientists, bioethicists, lawyers, and patient advocates from around the world. We are uniquely suited to address this topic with the broadest possible representation and perspective.

There is a long history of thinking about clinical care and research as independent, non-overlapping contexts. But in recent years we’ve been recognizing and grappling with the reality that the lines between the two are blurry and sometimes not well-defined. In genetics, many of us serve in both roles concurrently, which can create real or perceived conflicts of interest. It is incumbent on all of us to work as hard as we can to be aware of these potential conflicts and respond appropriately. Having principled and evidence-based guidelines upon which to rely is an invaluable resource in helping us to evaluate these situations and determine the right course of action.

ASHG: What are the key differences between the research and clinical contexts?

Howard: While the intent of biomedical research is ultimately to improve or maintain health and avoid, treat, or cure disease, the proximal goal is to generate knowledge that forms the foundation of that ultimate benefit to society. Direct benefit to individual research participants is wonderful when it occurs, but is not the primary purpose of the research. Conversely, clinical care puts the benefit of the patient front and center as the primary goal.

Thus, in the clinical context, recontact can be argued as furthering the goal of maintaining information and informed consent, so that individual benefits can be maximized and individual harms minimized. But in the research context, the ethical desirability of recontact is not as strong, because the main goal is generation of new knowledge, not individual benefit. In fact, recontact in the research context can be argued as ethically undesirable if the recontact consumes so much resource that the research itself can’t be completed. In addition, while there are mechanisms available to seek at least partial financial compensation for clinical recontact on a case-by-case basis, there is no such funding mechanism in the research context.

Yvonne: The workgroup carefully considered differences between the research and clinical contexts to determine a reasonable set of floor/ceiling recommendations, balancing these imperatives across research and laboratory settings. We also developed a decision tree, which walks a researcher through whether and how to implement these recommendations within their particular research context.

ASHG: What factors affect the strength of the responsibility to recontact?

Yvonne: The workgroup considered a variety of factors that would affect the strength of the responsibility to recontact, and recommended that this responsibility is stronger when:

  • The research is active, ongoing, has funding, and participant contact details are up-to-date
  • The informed consent process set an expectation of potential contact or recontact
  • There is high certainty about the new interpretation of the genetic variant
  • The reinterpretation would be relevant to the condition being investigated

If the interpretation of a given variant is related to the condition under study or reasonably expected to affect participants’ medical management, the Workgroup recommended that there is a strong responsibility for researchers to attempt to recontact participants to offer updated results. If the reinterpretation is not expected to affect medical management, recontact is advised rather than strongly recommended.

Conversely, the statement recommends that there is no responsibility for researchers to hunt or scan the genomic literature for changes in variant interpretation, and that any responsibility to recontact should be limited to the duration of research funding. Additional recommendations address the practicalities of informed consent, involvement of institutional review boards, timeliness and protocol of recontact, and structuring of future research studies.

Howard: Clinical utility to the participant is prioritized higher than personal utility or benefit to family members. And issues of practicality have to be considered, too. Some of these judgments may be subject to bias, and we therefore encourage consultation with and input from IRBs, ethics boards, and clinical consultants.

ASHG: How might advances in IT address practical challenges in fulfilling this responsibility?

Yvonne: Advances in IT will likely reduce the opportunity costs of recontact and open up new avenues of keeping patients and research participants informed. Most electronic medical record systems and many clinical laboratories now offer portals through which patients might see their data, interact with clinical, laboratory, and support staff, and access educational material. As our IT resources and our databases continue to evolve, it is plausible that much of the effort of recontact could become automated. When a variant is reclassified, an automated notification could be sent to all patients and research participants known to harbor that variant, alerting them of the revised interpretation and prompting them to log into the portal to view the new information and associated material.

Howard:  As the volume of identified and re-interpreted variants continues to increase, IT solutions will be critical to handling these immensely large numbers at scale, at much lower cost, and more rapidly than doing so manually.

IT solutions can also reduce the risk of biased or uneven approaches to attempting recontact. Humans may consciously or subconsciously vary their method of communicating information, and sometimes make mistakes in adhering to informed consent, research protocols, and other policies governing the recontact process. An automated, algorithmic approach is still subject to human bias and error in creating and implementing the rules that drive the process, and is obviously not as personal as direct human communication, but is by definition consistent from case to case.

ASHG: What infrastructure would be needed to maximize the impact of such IT advances?

Yvonne: This future vision depends upon well-developed and interoperable databases, including both the interpretations of the variants and the lists of who has each variant. Potentially difficult questions about identity and privacy will need to be answered. There are also significant concerns about the “digital divide” and economic disparities; increasing reliance on IT solutions has the potential to create disparities among people who are unable to or choose not to utilize such resources. There will always be situations that require more nuance and explanation than an automated algorithm can achieve. But there is hope that IT enhancements can significantly lower the costs and barriers to recontacting research participants when it is considered desirable to do so.

Howard: Perhaps more challenging than creating the infrastructure of standardized and interoperable databases will be establishing societal and cultural expectations surrounding privacy, security and sharing of the data, and developing the necessary IT tools to collect, maintain, revise, and respect individuals’ preferences regarding such data sharing. With all of that in place, patient-facing portals built into IT systems and yet-to-be-developed apps can deliver timely and relevant information to consumers who choose to receive it, and pair that information with additional education and support modules to help them make the most of that information.

Yvonne Bombard, PhD, is an Assistant Professor at the University of Toronto Institute of Health Policy, Management and Evaluation; Director of the St. Michael’s Hospital Genomics Health Services Research Program; and Scientist at the St. Michael’s Li Ka Shing Knowledge Institute. Howard P. Levy, MD, PhD, is an Associate Professor in the Division of General Internal Medicine & McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. 

Pivoting Your Career Toward Science Policy and Advocacy

By: Staff

ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics & Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policymaking process. If you’re interested in the development and implementation of genetics-related health and research policies at a national level, then this Fellowship may be right for you. Applications are open now through April 19, 2019.

Questions about what the position is like? Read on for real-world details from past Fellows about their experiences.

How is the position structured?

The Fellowship lasts for 16 months, during which time the Fellow rotates through three positions within the Policy and Program Analysis Branch of NHGRI, a congressional office of a member of Congress or a committee, and the Policy & Advocacy Department at ASHG. This allows Fellows to gain experience in different roles of national policymaking and decide which aspects of policy and work settings they are interested in pursuing as a career.

2016-17 Fellow Christa Wagner said, “The ASHG/NHGRI Fellowship has provided me with a diverse array of experiences, both in terms of topics covered and settings in which I worked on policy. The Fellowship provides an exceptional experience for those with a background in genetics to play a role in effective policymaking.”

Cari Young, 2015-16 Genetics & Public Policy Fellow, walks us through her experiences.

What kind of work will I do? 

While it depends on the needs of each organization at the time of arrival, 2017-18 Fellow Nikki Meadows gave us a look into her work during two of her rotations through several blog posts.

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2017-18 Fellow Nikki Meadows discusses advocacy with members.

During her rotation with the Senate HELP Committee, Nikki organized a panel of genetics experts to answer questions from congressional staff working on health issues. This allowed her the opportunity to network with seasoned geneticists and help enhance the scientific knowledge of congressional staff. At ASHG, Nikki also provided updates to members on important policy issues such as the federal biomedical research budget  and genetic privacy. She additionally promoted the ASHG Advocacy Center and encouraged scientists to make use of these vital tools, both at the 2018 Annual Meeting and through online forums.

While these certainly weren’t all of Nikki’s duties, she explored several areas of work with a variety of audiences. Nikki said, “I had some amazing opportunities during the course of this Fellowship. I’ve gained so much from this program, both personally and professionally, that I am forever changed by it.”

Will this position help further my career? 

The rotational aspect of the position is a huge bonus to many applicants. 2015-16 Fellow Cari Young said, “This Fellowship provided a unique opportunity to take on varied roles within the science and health policy landscape, allowing me to experience the pros and cons of working in each setting and helping me to crystallize my thinking on where I might want to go next. It also made me a more marketable applicant for policy positions beyond the Fellowship.” As Fellows gain experience in different areas of public policy in just 16 months, it is a vital starting point that lays a solid base.

Being a Fellow additionally opens a new professional network to benefit from. 2012-13 Fellow Laura Koontz said, “Not only has the experience been invaluable, the network of Fellows I’ve joined as an alumna are among the best policy professionals in D.C. The Fellowship has also allowed me to fully realize my commitment to bettering the lives and treatment of people with cancer – the reason I got into scientific research in the first place!”

What kind of jobs might I get afterwards?

Check out our policy fellowship page to see where all our past Fellows are working now! Our Fellows have gone on to positions at the National Institutes of Health, the U.S. Food and Drug Administration, the White House, and a number of other organizations focused on science and health.

Applications are open now through April 19, 2019. Apply today!

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.