U.S. Congress Approves $2 Billion Increase for NIH Funding

Posted by: Nikki Meadows, PhD, ASHG/NHGRI Genetics & Public Policy Fellow

Last month, the U.S. Congress approved legislation establishing a $2 billion (or 5.1%) funding increase for the National Institutes of Health (NIH) in Fiscal Year (FY) 2019. NIH’s total funding for FY 2019 is $39.1 billion. This includes increased funding for several priority research initiatives, such as the Cancer Moonshot and the All of Us research Initiative.

Increase Will Support New Priorities in Genetics and Genomics

The legislation (H.R. 6157) was signed into law by President Trump on September 28, after passing both the Senate (93-7) and the House (361-61). The $2 billion boost is the fourth consecutive increase in the NIH budget in recent years, demonstrating strong bipartisan support for biomedical research in Congress. Significantly, it is the first time in over 20 years that Congress has finalized the NIH budget on time.

20181011_FY19-appropriations-FASEBgraph
The $2 billion increase is consistent with the increase recommended and advocated for by ASHG and other FASEB organizations. (Credit: NIH Research Funding Trends, FASEB)

In addition to Congress being able to allocate funding for specific research initiatives, the annual appropriations bill also gives Congress an opportunity to issue directives to federal agencies, such as establishing how an agency should proceed on a particular activity or commissioning a report about a particular topic. One such directive you may be familiar with is the so-called “Dickey-Wicker Amendment,” which forbids the use of federal research dollars on any research that harms human embryos. In the FY 2019 appropriations, there are three directives related to genetics and genomics:

  • Representatives Marcy Kaptur (D-OH) and Katherine Clark (D-MA) advanced an amendment protecting the genetic privacy of individuals seeking family reunification. The amendment directs the Office of Refugee Resettlement to ensure the protection and privacy of genetic material, data, or information of children, parents, and all of the individuals being tested and their relatives.
  • A Government Accountability Office report was commissioned to analyze the medical genetics workforce nationwide. The report is asked to determine whether there are a sufficient number of qualified professionals to serve this growing health need and whether there are any geographic areas that lack access to genetic counseling professionals.
  • An amendment from Senator Marco Rubio (R-FL) requires the HHS Secretary to submit a report on the circumstances in which the Centers for Medicare and Medicaid Services may be providing payments to, or otherwise funding, entities that process genome or exome data in the People’s Republic of China or the Russian Federation.

Funding Bill’s Timely Passage Will Help with Long-Term Planning

The fiscal year runs from October 1 through September 30 of the following year, and each year, Congress is required to establish funding for upcoming fiscal year. For the past 21 years, Congress has missed the deadline, and in order to avoid a government shutdown, had to pass a Continuing Resolution (CR) that agreed to continue to fund the government until a new spending bill was completed. Indeed, such a scenario caused brief shutdowns last winter.

This year, the Department of Health and Human Services, which includes NIH, was funded through all of FY 2019, so there is no possibility of a shutdown for NIH. The budget’s timely passage means that institutes and centers can plan for the year ahead knowing what funds are available. However, other agencies, including the National Science Foundation, are currently funded by a CR until December 7, 2018, and funding for these agencies in FY 2019 remains uncertain.

Inside AJHG: A Chat with Sek Kathiresan

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 2018 Curt Stern Award winner Sek Kathiresan (@skathire on Twitter) to discuss his paper ‘Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure’.

Bulfinch Studio; Sekar Kathiresan portrait
Sek Kathiresan, Massachusetts General Hospital/Broad Institute/Harvard Medical School (courtesy Dr. Kathiresan)

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

Sek: In observational studies, many biomarkers including the concentration of protein spilling into urine (albuminuria) are correlated with health outcomes. We wondered if the association of albuminuria with adverse health outcomes reflected a causal relationship or mere correlation. Knowing this is important to determine if decreasing urinary albumin excretion should per se be a target for therapeutic intervention.

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

Sek: In addressing the question above, we identified a bi-directional relationship – genetic predisposition to albuminuria leads to higher blood pressure and genetic predisposition to higher blood pressure leads to more albuminuria. We suspect this reflects a feed-forward loop.

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

Sek: Mendelian randomization is a useful genetics approach for causal inference. The availability of biomarkers, clinical outcomes, and genetic data in a single large study – UK Biobank – is facilitating systematic Mendelian randomization analyses for a range of biomarkers.

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

Sek: Pick an important problem to study – one that not only you care about but also the rest of the world. Figure out the skills and resources you need to address the problem. Then, go out and get the training and resources to attack the problem. Stay focused on the problem and ask yourself, each day, if you are working on the most impactful thing you could be doing.

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

Sek: Life outside the lab is consumed by three children – ages 15, 13, 10. Raising them to be happy, loving, and engaged with the world is a joy.

Sekar Kathiresan, MD, is the Director of the Center for Genomic Medicine at Massachusetts General Hospital (MGH), Ofer and Shelly Nemirovsky MGH Research Scholar, Director of the Cardiovascular Disease Initiative at the Broad institute, and a Professor of Medicine at Harvard Medical School. He has been a member of ASHG since 2004.

Talking Genetics and Genomics on Capitol Hill

Posted By: Nikki Meadows, PhD, ASHG/NHGRI Genetics & Public Policy Fellow

What happens when you put three genetics experts in a room full of curious minds? Ideally, a fascinating conversation that everyone involved will still be talking about days later, and that’s exactly what happened in a U.S. Senate hearing room last Friday, September 28. The health staff of Senator Patty Murray, top Democrat on the U.S. Senate Committee on Health, Education, Labor and Pensions (HELP Committee), invited ASHG, along with the National Human Genome Research Institute (NHGRI) and the HudsonAlpha Institute for Biotechnology, to discuss genomics with Congressional staff working on health issues.

20181004_Hill-briefing
L-R: Genetics experts Eric Green, Neil Lamb, Nikki Meadows, and Kiran Musunuru discussed the importance and uses of genetics and genomics research with U.S. Congressional staff. 

With genomic technologies becoming more prevalent in medicine and agriculture, it is critical that those making legislative policies impacting genetics and genomics have a good understanding of genomics research and its uses. NHGRI was represented by its Director, Eric Green, MD, PhD; HudsonAlpha invited their Vice President for Educational Outreach, Neil Lamb, PhD; and ASHG’s spokesperson was Kiran Musunuru, MD, PhD, MPH, an Associate Professor of Medicine at the University of Pennsylvania and our 2019 Program Committee Chair.

Dr. Green opened the conversation by discussing how technology advancements in the last two decades have revolutionized the field of genomics. He described how our ability to now sequence an individual’s entire genome quickly and cheaply has completely transformed how we think about genomics, the types of information we can glean from our genomes, and how we can apply this knowledge to realize the vision of personalized medicine. Dr. Musunuru explained how scientists are able to use genomics to increase our understanding of common diseases such as cardiovascular disease, and to explore possible avenues of treatment.  He also explained why diversity in research cohorts is so important. Dr. Lamb finished up the introduction to genomics by talking about using genomic sequencing to study rare and undiagnosed diseases; he also touched on how using genomics in agriculture may have an impact on the plants and animals that we eat in the future.

A fascinating dialogue ensued between the expert panel and the Congressional staff regarding what personalized medicine will look like in the future, how genomic technologies are going to fit into existing healthcare framework, and the importance of genomic literacy at all levels.

Through participation in events like these on the Hill, ASHG is helping Congress understand the value of genetics research. It also helps us showcase the expertise of our members, and demonstrates that ASHG is a resource to which Congress can turn for expertise on human genetics and associated policy issues. In this way, we are able to build stronger relationships with members of Congress and their staff.

Nikki Meadows, PhD, is the 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on ASHG’s policy and advocacy programs, please visit the Policy & Advocacy webpage.

Making the Most of Your Time at a Scientific Meeting

Posted by: Ann Klinck, Communications & Marketing Assistant, ASHG; Amanda Olsen, Meetings Assistant, ASHG 

This is the third and final installment of our three-part blog series with tips on attending a scientific meeting like ASHG 2018. Check out part one about budgeting, and part two about attending a meeting without colleagues!

There are many reasons to attend a scientific meeting, but the top three we hear are for education, networking, and travel. Here’s how to accomplish those goals.

Education

ASHG Annual Meetings are a great opportunity to learn about new technology and research spanning a wide breadth of genetics topics. So how can you possibly absorb all this new information? Plan it out! Use our online planner to browse, search, and filter out the subject matter that most interests you. The app is another great planning tool, and you can take notes on the app for the sessions you attend. Find and download it at: ashg.org/MeetingApp.

Need more tips on getting the most out of attending? Watch this quick video:

Networking

Whether you’re attending as a mentor or to be mentored, you can always use opportunities to connect with people in your field. A hot spot to network is the Exhibit and Poster Hall: Your Solutions Hub. With over 250 exhibitors, it can be overwhelming, but you’re in luck! This year, ASHG is offering custom itineraries that follow a variety of career tracks, directing you to exhibitors that will best fit your interests. Check the 2018 meeting site soon for details.

While networking with people in senior positions is valuable, Emily Davenport, member of the ASHG Training & Development Committee, reminds us that peer networking matters, too. “People often think they should network ‘up,’ but it’s really valuable to meet other trainees from different institutions who are in the same position you are, or similar. These are the people who could one day be your new lab mates or eventually PIs themselves,” she said.

Finally, social events are part of the Meeting for a reason! We are one genetics community, and we love to talk shop, but we also want to unwind together. Check out events like the TweetUp, or any of the ancillary and exhibitor events! The Welcome Networking Reception is also a great opportunity to connect with fellow attendees. You never know what shared hobbies could bond you to a fellow colleague.

DBP-1067
ASHG 2017 TweetUp, Orlando, Florida

Enjoy the City

20180910_sandiego-Coronado
Coronado, San Diego (credit: San Diego Convention Center)

A scientific meeting is more than just a chance to expand your knowledge and career; it’s time in a different city and should be used as a chance to explore. Check out our blog post on fun San Diego neighborhoods that are close to the Convention Center, or read the ASHG 2018 travel page. Add networking to the mix by using #ASHG18 and #ASHGTrainee on social media to find fellow attendees looking to explore!

We hope you’re as excited for ASHG 2018 as we are, and we wish you luck achieving all your meeting goals!

Inside AJHG: A Chat with David Kingsley

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 David Kingsley to discuss his paper ‘Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia’.

20180920_KingsleyLab
Kingsley lab group at Stanford, with co-lead authors Janet Song (standing at left of center), and Craig Lowe (seated at far right). (courtesy Dr. Kingsley)

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

David: We’ve been working on the genomic basis of evolutionary change for many years. We previously found that the deletion of key regulatory sequences can underlie classic evolutionary traits in both stickleback fish and humans. [Co-authors] Craig Lowe and Janet Song decided to look for the reciprocal type of molecular changes: insertion or gain of new regulatory sequences that might contribute to human-specific traits.

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

David: We found a particularly dramatic human insertion in an important calcium channel gene. Where most primates have a single, 30 base pair, non-coding sequence, humans have expanded the 30-mer into a huge tandem array that can be up to 30,000 base pairs long. We found that the expanded human sequence shows enhancer activity in neural cells, suggesting it contributes to increased expression of this calcium channel gene in humans compared to other primates.

We were particularly interested to see that the tandem array is located right between SNP markers that been repeatedly associated with risk of schizophrenia and bipolar disorder in many human genome-wide association studies. We found that different subtypes of the tandem arrays are associated with risk or protective genotypes at the locus, and that the risk-associated arrays have less enhancer activity than other subtypes. We think that this novel structural feature may thus contribute not only to evolutionary differences between humans and other primates, but also to common risk of psychiatric disease within human populations.

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

David: These large tandem arrays don’t appear in the reference human genome, likely because they are unstable when propagated in conventional bacterial vectors, and are impossible to assemble correctly from short sequence reads alone. Conventional SNP genotyping arrays don’t score the repeats, and exome sequencing studies miss the region entirely because the arrays are located in a large intron of a calcium channel gene.

The human-specific arrays are thus a great example of a previously hidden genome feature, that may nonetheless provide a causal basis for functional changes in the gene. The broader lesson is that the human reference genome is still a work in progress, and that lots of important biology may be embedded in the parts of our genomes that are difficult to assemble and still poorly understood.

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

David: Treasure your exceptions, and try to keep an open mind when studying any research problem. The surprises and the things that don’t initially make sense are interesting puzzles that often lead to new discoveries. But you have to embrace results that don’t fit your preconceptions, and then be willing to consider a whole range of new possibilities.

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

David: I love to explore the sky with telescopes at night and have made trips all over the world to enjoy dark skies in both the Northern and Southern hemisphere. Early astronomers slowly groped their way to a better understanding of the larger universe by cataloging individual stars, planets, and nebula with relatively simple equipment. Particular objects can look like stunning “eye-candy” or faint and subtle “mind-candy” in the eyepiece. And as you look at more and more objects, you can gradually build up a larger picture of our place in the solar system, the Milky Way galaxy, and the overall universe.

That actually has lots of parallels to biology. In genetics, we often start with an interest in particular traits or genes. But detailed studies of particular genes can grow into larger studies of chromosomes, whole genomes, variation between individuals, and the molecular basis of evolutionary differences between species. Our glimpses of the whole shebang are still very incomplete. But spend enough fun time looking at stars and genomes, and you end up with a much richer view of humans and where we came from.

David Kingsley, PhD, is an HHMI Investigator and Professor of Developmental Biology at Stanford University. He has been a member of ASHG since 2018.

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.

20180917_CarsonMartinez
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.

20180917_FPF-infographic
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.

Welcome ASHG/NHGRI Genetics Education & Engagement Fellow Dyanna Christopher

By: Staff

We’re giving a big ASHG welcome to Dyanna Christopher, MPH!

Dyanna_Christopher
Dyanna Christopher, MPH, ASHG/NHGRI Genetics Education & Engagement Fellow (courtesy Mrs. Christopher)

Dyanna started the ASHG/NHGRI Genetics Education & Engagement Fellowship in August. We sat down and discussed her passion for genetics education and engagement, and what led her to this fellowship. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor this fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.

ASHG: Why did you apply for the ASHG/NHGRI Genetics Education & Engagement Fellowship?

Dyanna: I’m interested in opportunities that aim to address populations without a background in genetics. These publics can range from medical health professionals who never studied genetics to members of lower-income and minority communities who don’t have enough health literacy to make important health care decisions that can be determined by their genetic predispositions. Because of the rotational structure of this fellowship, it was clear that this position would give me the opportunity to bridge those gaps in knowledge for health care professionals and the nonscientific community.

ASHG: How did your background lead you to education/engagement centered around genetics?

Dyanna: Believe it or not, my interest in genetics began in high school, where I was able to take my first genetics related classes. I got a BA from the University of Pittsburgh in English Writing with a pre-health track. During my undergrad, I completed an independent study project examining stigma as it relates to genetic diseases and the media. I found that most of the stigma and fear came from a lack of genetic education. I also shadowed scientists and healthcare professionals and got to see firsthand the empowerment that came when a person used their familial history and genetic test results to make medical decisions.

I went on to get my master’s from the University of Pittsburgh in Public Health Genetics. My thesis was focused on patient barriers to initial genetic risk assessment and follow up services. Some of the barriers we looked at were stigma, religion, and education. We found that the community we observed had many misconceptions about genetics and how it relates to health.  People were afraid to discuss their genetic predispositions. I would call to tell patients their screenings indicated they might want to consider making a follow up appointment to discuss their detailed family history to see if they qualified for additional genetic services, and even that information made patients nervous. It was clear that genetic services were being misunderstood. It’s important to communicate that even if you have a genetic predisposition to something like breast cancer, that is not a death sentence; it’s merely another factor to consider when making medical decisions.

I was also a Patient Navigator for the American Cancer Society. In this position I actively engaged with different communities by organizing events with the purpose of educating the audience about breast cancer and screening. I was additionally able to partner with other community stakeholders to gain a better understanding of what type of education events the communities would be receptive to.

ASHG: Is there a specific area of engagement or education that interests you most?

Dyanna: To be perfectly honest, everyone could benefit from better genetic education, so I have a very broad interest. But from my background and involvement in different communities, lower-income and minority populations have a special place in my heart because they have several factors affecting their access to genetic services and education. One of my goals is to address the health disparities seen in this community.

ASHG: What do you hope to accomplish in this position?

Dyanna: I hope to help close the knowledge gap about genetics for a variety of publics. I also hope I can highlight the importance of careers like genetic counseling, genetic research and genetic education and encourage others to pursue those positions so that there can be better avenues for utilization of genetic information and personalized medicine and care. I hope that medical professionals who don’t have genetics backgrounds will have better access to resources which will help them integrate genetics into their patient care.

ASHG: Any advice for fellow scientists interested in transitioning to engagement/education?

Dyanna: Don’t be afraid to apply for fellowships! I knew about the ASHG/NHGRI Genetics Education & Engagement Fellowship last year, but was concerned the application process would be too daunting for me to take on when I was finishing graduate school. I expected it to be as lengthy as my grad school applications, but it wasn’t, and I was disappointed I didn’t apply sooner.

If you’re still an undergrad, be open to taking classes outside of your major that will expose you to your other interests. If you didn’t take the classes during your undergrad, then look for opportunities in graduate school to indulge some of those interests. See if you can take courses at other schools/departments. Internships and volunteer opportunities are another great way to get exposure to a different field if you don’t have space in your schedule.  My graduate school offered community engagement and community-based research courses that were helpful. Reaching out to potential mentors can also help you figure out if education is right for you. Find people who are doing what you want to do and connect with them. Professionals in this field see the growing need for more geneticists, so we are very receptive to people interested in what we’re doing.

Overall, there’s no linear path into education and engagement. Volunteer, network, and take classes outside of your regular course of study to see if this could be the right fit for you!

Background on the ASHG/NHGRI Genetics Education & Engagement Fellowship

This unique fellowship provides several experiences: working with NHGRI’s Education and Community Involvement Branch; working with the education department at ASHG; and an optional third experience working with another organization involved in substantive science education or public engagement initiatives. Applications open in February.