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 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 or contact their population genomics team at


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!

Recap: Genomic Medicine at the Population Level Webinar

Posted by: Alissa Ortman, Associate Director of Digital Programs, ASHG

Several large-scale national studies have been launched to collect phenotypic and genomic data on large populations. These studies will form the basis for future initiatives in precision medicine. ASHG and The American Journal of Human Genetics (AJHG) hosted the webinar Genomic Medicine at the Population Level to describe some of the major approaches being used in these studies around the world, and to highlight the progress in assembling the cohort of one million or more participants in the All of Us Research Program in the United States.

AJHG Deputy Editor Sara Cullinan, PhD, moderated the webinar with speakers Kathryn North, AC, representing the Global Alliance for Genomics and Health (GA4GH); and Stephanie Devaney, PhD, Deputy Director of the All of Us Research Program.

Stephanie Devaney, All of Us Research Program

First, Stephanie shared the overall goals of the All of Us Research Program, including serving as a rich, longitudinal resource, focusing on a diversity of program participants, and building tools and capabilities to support broad diversity of researchers using the data. Stephanie noted, “If we harness the right data and information in partnership with a diverse group of one million of us over many years, we will learn things about human health that will be game-changing.”

The focus on partnership is an important part of All of Us, with a goal to work with participants and meet them where they are, to be able to develop a unique program to answer questions that have previously been out of reach for the genetics and genomics community.

Kathryn North, Global Alliance for Genomics and Health

Kathryn then spoke about the efforts around integrating genomics data from these types of programs into clinical practice. She noted that millions of samples will need to be collected in order to address some rare and/or complex diseases like cancer. Some of the biggest challenges to this effort are the silo-ing of data by type, disease, country, and institution; and questions about how to approach regulation, consent, and data sharing.

GA4GH is focused on these issues, working to accelerate progress in human health by establishing a common framework of harmonized approaches to enable effective and responsible sharing of genomic and clinical data. The alliance currently has more than 700 partners across 90 countries with a goal of having a virtual cohort of more than 60 million samples by 2025. Programs in the alliance include the All of Us Research Program Stephanie discussed, as well as the Australian Genomics Health Alliance, led by Kathryn.

To learn more about the processes and protocols being used by All of Us, GA4GH, or the Australian Genomics Alliance, watch the full webinar recording.

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 or contact their population genomics team at

Inside AJHG: A Chat with Heidi Rehm

Posted By: Sarah Ratzel, PhD, Science 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 Heidi Rehm to discuss her paper, “Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.”

Heidi Rehm
Heidi Rehm (photo courtesy of Dr. Rehm).

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

Dr. Rehm: We (Broad Institute and Partners Laboratory for Molecular Medicine) as well as Baylor College of Medicine were funded to provide genomic sequencing and interpretation support for Phase 3 of the eMERGE program.

AJHG: What about this paper most excites you? 

Dr. Rehm: Understanding our genomes will require large scale data sharing, harmonization and analysis across many research and health systems. This paper represents key steps in harmonizing and scaling genomics in the context of real-life healthcare systems.

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

Dr. Rehm: We hope that our work sets the groundwork for more clinical laboratories standardizing the intake of genetic testing orders and output of clinical reports for consumption by electronic health systems which we hope will be embraced as we all try to best integrate genomics into the practice of medicine.

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

Dr. Rehm: Clinical genomics is an exciting field with tremendous growth happening. Come join us!

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

Dr. Rehm: I have two teenagers, so life outside the lab right now is mostly following them around to sports events and college visits. Most weeks I get to play at least one game of ultimate Frisbee in the evening when I’m not traveling. And of course a favorite family activity is watching John Oliver as the only way to survive the current political climate in the U.S.!

Heidi L. Rehm, PhD, FACMG, is Chief Genomics Officer in the Department of Medicine for Massachusetts General Hospital, and Medical Director of the Broad Institute Clinical Research Sequencing Platform. She has been an ASHG member for over 20 years. 

Advancing Research and Privacy: Achievements, Challenges, and Core Principles

Posted By: Les Biesecker, ASHG President

Today, ASHG issued a new Perspective in The American Journal of Human Genetics (AJHG) entitled, “Advancing Research and Privacy: Achievements, Challenges, and Core Principles”. In the Perspective, the ASHG Executive Committee emphasizes the tremendous value of data sharing to advance genetics and genomics research, and the ongoing and unwavering commitment of members of our field to protecting the privacy of research participants. It also articulates core privacy principles that the Society believes should apply to all human genetics and genomics research.

ASHG’s newest Perspective appeared today in AJHG.

This Perspective is timely given the current global debate on data privacy and the many countries establishing new broad citizen privacy protections, the European General Data Protection Regulation (GDPR) being a notable example. Within these discussions, it is important to emphasize that genetic privacy in publicly funded research is well-regulated and researchers are careful custodians of research participants’ genetic information. It behooves us, both in the U.S. and in other countries, to monitor proposed policies to ensure they balance important consent and privacy protections with the vital health and medical benefits that can come from genetics and genomics research.

The new Perspective notes that, within the U.S., many genetic privacy laws apply only to federally funded research. Increasingly, researchers in our community—both in academia and industry—recognize the potentially useful role of data generated by entities that are not federally funded to pursue shared health goals. We believe these data should be secured using standards equivalent to those for federally-funded entities.

Thus, to enable these data to be collected ethically and benefit all consumers through future improved health and medicine, ASHG believes the core principles described in the Perspective should apply to all genomic research, irrespective of the funding source. The Society was encouraged by recent efforts by a collective group of private companies to develop core privacy principles, and ASHG is eager to foster further dialogue to advance research data privacy policies that advance the shared values of the research community and adhere to informed consent and privacy best practices.

This is the third in the Perspectives series. We look forward to continuing the dialogue on important policy issues at the Annual Meeting, through AJHG, and other venues.

Leslie G. Biesecker, MD, is 2019 President of ASHG.