Unconscious Bias: An Important Theme at the ASHG 2019 Diversity Breakfast

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

The 8th Annual Diversity Breakfast at ASHG 2019, an annual event celebrating the diverse and global human genetics community, featured thoughtful discussion around unconscious bias and microaggressions.

Presenter Fuki M. Hisama, MD, started the conversation by describing how unconscious bias affects decision-making and behavior. Two types of inter-group bias express themselves: explicit and implicit bias.

Breakfast attendees discussing provided topics

Explicit bias—consciously endorsed, personal beliefs about a type of person—has been decreasing over the last several decades. Implicit or unconscious bias, however, remains prevalent, and is most often seen through habits and attribution of qualities to members of a certain category of people, such as through race, gender, religion, or ethnicity. It can start very early in life. Dr. Hisama shared a personal anecdote of playing with her two-year-old relative, who confused her for a maid because of her dark hair and eyes.

While implicit biases can be positive or negative, Dr. Hisama described a few studies showing their negative impact on minority medical professionals.

A study in 2012 surveyed 127 professors at three large public and three private institutions. Professors were provided resumes/CVs that were identical except for the candidate’s name at the top, which was male in some cases and female in others. Despite having identical qualifications, the male candidates were consistently ranked as more desirable to employ and at higher salaries.

Dr. Hisama referenced a 2018 paper that surveyed minority resident physicians on how often they were:

  • Mistaken for a nurse, housekeeper, transport personnel, or interpreter
  • Asked where they were from, and the speaker did not accept an answer such as “Texas”
  • Told they speak English well
  • Asked when they were going back to their country
  • Told they were too young or pretty to be a doctor

This paper highlighted what microaggressions look like, how often they happen, and how they make the person on the receiving end perceive themselves as unworthy or “not good enough.” Dr. Hisama noted that while the person asking or saying the above remarks may not intend to offend the listener, intent and impact are quite different.

After given these examples of how people in science are affected by bias and microaggressions, attendees spent about 40 minutes discussing the cases at their tables. This event provided a safe space for trainees who are minorities to ask how others handle such situations, and share reasons not to ignore these comments, thereby sending the message that these behaviors will not be accepted. Dr. Hisama also provided Twelve tips for responding to microaggressions and overt discrimination: When the patient offends the learner.

In closing, Dr. Hisama reminded the audience of a quote from author James Baldwin, “Not everything that is faced can be changed, but nothing can be changed until it is faced.”

ASHG/ESHG Building Bridges: Tackling Global Questions Together

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

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

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

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

Who were the Experts?

Moderators: Kiran Musunuru, ASHG and Joris Veltman, ESHG


  • 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.


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

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

ASHG Partners with ACMG for Congressional Briefing: The Undiagnosed Diseases Network

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

ASHG and the American College of Medical Genetics and Genomics (ACMG) have partnered together to launch a series of congressional briefings on Capitol Hill to educate Congress on the importance of genetics and genomics research and medicine. Congressional briefings provide an opportunity for organizations to engage members of Congress and their staff on a particular topic or issue.

L-R: Katie Murray, a staffer in briefing sponsor Rep. Loebsack’s office; and speakers John Phillips III, MD; Bill Gahl, MD, PhD; Gail Jarvik, MD, PhD; and Danny Miller.

For genetics and genomics, it is important that members of Congress and their staff understand the value that sustained federal funding holds for genetics and genomics research, and its translation to clinical applications that benefit patients and research institutions nationwide.

On Thursday, September 26, the initial briefing in this series was held, titled, “The Undiagnosed Diseases Network (UDN): The Interface of Research and Clinical Care to Solve Medical Mysteries,” sponsored by Representative Dave Loebsack (D-IA). Gail Jarvik, MD, PhD, ASHG Secretary and Co-Principal Investigator at the University of Washington UDN, moderated the briefing.

In her opening remarks, Dr. Jarvik noted the value of this ASHG-ACMG partnership and the significance of highlighting the UDN, stating, “The expertise of these two organizations and their members spans the facet of genetics from basic research to clinical practice. Just as research informs clinical practice, information learned in the clinic also informs research. Not only is the Undiagnosed Diseases Network an excellent example of this, but it is also a great example of how federal funding for such a program can broadly impact clinical care and research beyond the program itself.”

Dr. Gahl (middle) and Dr. Jarvik (right) discuss the importance of federal funding for clinical care and research.

Additional speakers included Bill Gahl, MD, PhD, Director of the Undiagnosed Diseases Program at NHGRI; John Phillips, III, MD, Co-Principal Investigator at the Vanderbilt University UDN; and Danny Miller, the father of two patients who were diagnosed through the Stanford University UDN.

Dr. Gahl spoke about the history of how his work with the Undiagnosed Diseases Program eventually evolved into the NIH-funded Undiagnosed Diseases Network in 2013. Dr. Phillips went into detail about some of the research and diagnoses he has been able to complete through the UDN, and how the UDN allows for a unique team-based approach in identifying undiagnosed diseases. Danny Miller gave a passionate testament of how the UDN has benefited the lives of his two children, and why continued, increased federal funding is so vital in helping other patients with undiagnosed diseases and their families nationwide.

If you are interested in hearing more about the speakers’ stories, stay tuned! A video of the briefing presentations will be made available in the near future.

Have an idea about a future briefing topic? Let ASHG know at policy@ashg.org. To stay up-to-date on genetics and genomics policy issues, subscribe to our monthly policy and advocacy email updates.

Inside AJHG: A Chat with Stephen Kingsmore

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Stephen Kingsmore to discuss his paper “A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants.”

Stephen Kingsmore, MD, DSc, holding his patient, Maverick Coltrin. The photo was taken in April 2018 at the Frontiers in Pediatric Genomic Medicine Conference.

AJHG: What prompted you to start working on this project? 

Stephen: We’ve been working on implementing rapid whole genome sequencing in infants in intensive care units since 2011. We have two Guinness world records for fastest time to genetic diagnosis (the current benchmark is 19 hours). In the first 35 infants we tested, we saved two lives by changing therapy from that based on the clinical diagnosis to that based on the molecular diagnosis. Ever since then, we’ve been on a mission to understand how to make this reality in every intensive care unit in the world.

AJHG: What about this paper/project most excites you? 

Stephen:  Randomized controlled trials are very exacting. This is just the second randomized controlled trial of clinical genome sequencing! You’re never sure whether a clinical trial will really test the desired hypothesis. I was most excited that we clearly showed that ultra-rapid whole genome sequencing, with fastest time to diagnosis, was best for seriously ill infants in intensive care units (ICUs). As with every previous study, I now know how to redo the current one!

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Stephen: This manuscript is part of a growing body of evidence that demonstrates that infants in ICUs with diseases of unknown etiology benefit from rapid whole genome sequencing by virtue of the consequent implementation of precision medicine. We anticipate that 30,000 infants per year would benefit from this in the U.S. The current study was unique since almost one half of infants in ICUs were eligible for enrollment. As a result, we found that genetic diseases are much more common than previously expected.

AJHG: What advice do you have for trainees/young scientists?

Stephen: Think about a career in genomic medicine – the genomic medicine tsunami is coming and we’ll need every genetic counselor and medical geneticist to deliver this new type of care. For the first time, genomics will save lives day in, day out.

AJHG: And for fun, tell us something about your life outside of the lab.

Stephen: I’m reading the Bible in a year. I’m 2/3 of the way through and it yields specific thoughts for each day, as well as continually adjusting my thinking to the bigger, long-term picture. It started as a chore and now is a vital part of my day.

Stephen Kingsmore, MD, DSc, is the President and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital. He has been a member of ASHG since 2007.

Genomic Medicine at the Population Level: Your Questions Answered 

Posted By: Alissa Ortman, Associate Director, ASHG Digital Programs


In September, ASHG and The American Journal of Human Genetics (AJHG) hosted a webinar to discuss large-scale, national studies that have been launched to collect phenotypic and genomic data on large populations. They also discussed how the data from that work should be shared around the world. If you missed it, you canwatch the recording or read this blog that summarizes the event.

This topic generated numerous audience questions, not all of which were able to be answered. Fortunately, the All of Us Research Program communications team was able to answer some of them after the webinar.

Attendee Question: When will All of Us start recruiting from smaller cities across the country? Example: I live in Tallahassee, FL. and am interested in joining.

All of Us: Recruitment is now open nationwide at https://www.joinallofus.org/en. Meanwhile, the program is gradually expanding its reach to collect physical measurements and samples from more participants in different areas across the country and will invite more participants to schedule a visit in time.

Attendee QuestionHas any uninterpreted genomic data (not results) been returned yet to any All of Us participants? If so, how much? If not, when is that anticipated to begin?

All of Us: No, not yet. We have not yet begun genetic analyses, either genotyping or whole genome sequencing. Participants will be able to request access to their raw genetic data in time. Our plans and timeline for the return of information are currently under development and will be subject to review by our Institutional Review Board.

Attendee Question: Do you anticipate expanding the data All of Us will return to participants—specifically, in line with recent FDA guidance around pharmacogenomics?

All of Us: Over time, the program plans to return various types of information. Genetic results will likely include information about ancestry and traits, pharmacogenomics, and findings tied to 59 genes associated with risk of specific diseases for which there are established medical guidelines for treatment or prevention. The specific details about what the program will return and when are under discussion and will be reviewed by our Institutional Review Board.

Attendee QuestionIt is great that genomic data is being used in novel ways for diagnosis of rare, even new diseases. However, what efforts are being made to make novel treatment options available to the individual patients?

All of Us: The mission of the All of Us Research Program is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. We hope novel treatments will be discovered based on the data available through the program and understand that these options then need to get to the folks who need them most. In August 2019, All of Us awarded $4.6 million in initial funding to Color, a health technology company, to establish the program’s nationwide genetic counseling resource. Through this funding, Color’s network of genetic counselors will help participants understand what the genomic testing results mean for their health and their families.

Attendee QuestionWill any training sessions be available for how to use the cloud data of All of Us Project?  

All of Us: Once the Research Hub is made available to all researchers (anticipated for 2020), All of Us will announce plans for upcoming training sessions on how to use the platform.

Thank you to our webinar sponsor, Illumina, whose sequencing and array technologies are fueling advancements in life science research, translational and consumer genomics, and molecular diagnostics. For more information, please visit illumina.com or contact their population genomics team at populationgenomics@illumina.com.


Navigating the ASHG Exhibit & Poster Hall

Posted By: Carrie Morin, Associate Director, Exhibits and Sponsorships

The Exhibit & Poster Hall is so much more than a vendor mall or a place to pick up fun items – it’s the one-stop location where you can find answers and learn about new technologies across the genetics and genomics spectrum! This year’s Exhibit & Poster Hall is the biggest ever, featuring over 280 companies! That may sound intimidating, but it really points to an exciting time in technology, drug discovery, and so much more in genetics and genomics.

PetaGene asserts that walking the Exhibit & Poster Hall is a “great opportunity to find out how you could work smarter and push your science forward.”

Wondering How to Approach an Exhibitor?

St. Jude Cloud suggests that you “ask for a one-sentence explanation. If you’re not interested, we won’t waste your time.” Don’t forget that booth staff are often scientists themselves and are also attending sessions or presenting posters, like you!

ASHG 2018 attendees chat with booth representatives to learn more about the latest in genetic and genomic technology.

Think about a problem you are having trouble solving due to software or technology. Go to that exhibitor and tell them! Ask them what they suggest, and they will be happy to troubleshoot with you and may even have a solution for you on the spot. Olink Proteomics says, “We are scientists who love talking to other scientists, so come to our booth for discussions around your projects.”

Genoox states that hall visitors “have the opportunity to truly impact and shape the future of our products.” All exhibitors feel this way – they want their products and services to move the field forward and you are a huge part of that! Tell them what you need, what you want; they are thrilled to have a discussion with you!

Don’t Have a Big Budget?

Ask a company to help you make the case to your supervisor or schedule an in-person meeting. New exhibiting company Miroculus asserts that the most pressing issue facing the field of human genetics is “making it possible for small labs to be able to automate and routinize the most complex protocols.” Industry wants to work with you to make discoveries!

Learn from Exhibiting Scientists

CoLab theaters can be found within the clusters of booths, where industry has organized 30- or 45-minute sessions focused on their technologies. Topics are organized under the headings of Data, Clinical, and Laboratory and include sessions on single-cell technology, workflow automation, variant analysis, and handling genomic data to name just a few. Explore the CoLab schedule, and know that CoLab talks don’t oppose official platform or invited sessions, so you should have the time to check them out!

CoLab theaters offer an informal, focused learning opportunity.

Where else can you get hands-on demonstrations of equipment or software? Or short tech-focused sessions? All while getting a cup of coffee or lunch while networking with your colleagues. ASHG 2019’s exhibitors are excited to meet you and help you advance discoveries in human genetics and genomics!

Trainees Advocate on Capitol Hill: 2019 Rally for Medical Research

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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