The Genomics Landscape

Genomics in Africa expands through the Human Heredity and Health in Africa Program
December 6, 2016

Reflecting on the recent Thanksgiving holiday, I wanted to remind you about the My Family Health Portrait tool, which offers families a place to share health information and learn about familial health conditions. What better time to do so than during the holiday season when extended families often gather? To learn more about family health history, see NHGRI's recently released infographic as well as a joint feature on the topic with the Centers for Disease Control and Prevention (CDC).

International Summit on Genetics and Genomics
November 1, 2016

I do not know about the rest of you, but my most frequent thought for the past couple of months has been "are we there yet?" There seem to be so many things in play right now, including the election, the need to pass a Fiscal Year 2017 federal budget, and the inevitable transition to a new administration. The good news is that we are (hopefully) almost there on all of these fronts. Despite these uncertainties, the pace of genomic advance does not seem to be slowing down, as evidenced by the myriad impressive things that I saw firsthand reported at last month's American Society of Human Genetics meeting in Vancouver.

NHGRI Technology Development programs blaze forward
October 4, 2016

I frequently boast of the accomplishments of the NHGRI Advanced Sequencing Technology Program, often referred to as the $1000 Genome Program. In fact, I am on record as saying that - in my opinion - it is the most successful technology development program in NIH history. As an example, such glowing accolades were heard out of my mouth a couple of weeks ago at the 78th meeting of the National Advisory Council on Human Genome Research. Simply stated, the $1000 Genome Program has been spectacularly catalytic in advancing the development and refinement of new genome sequencing technologies. The fruits of multiple rounds of grant awards aimed at stimulating technology development in this area have helped to create the various new 'next-generation' DNA sequencing platforms that are now available.

Centers of Excellence in Ethical, Legal, and Social Implications Research (CEER) Program
September 7, 2016

Starting at the inception of the Human Genome Project, NHGRI has been at the forefront of research into the Ethical, Legal, and Social Implications (ELSI) of genomic advances. From stand-alone investigator-initiated studies to research embedded within large international genomics collaborations (e.g., HapMap Project, 1000 Genomes Project, and H3Africa), NHGRI has funded in-depth research endeavors that aim to ask and answer questions about individuals' and communities' attitudes about genomics, legal issues associated with genomics, the responsibilities of genomic researchers to their research participants, and numerous other issues. This funding support has gone to investigators from a wide range of disciplines -bioethics, law, behavioral and social sciences, policy, philosophy, and theology.

From Bedside Back to Bench: Bringing Genomic Medicine Full Circle
August 9, 2016

To explore the complexity of the human genome and its involvement in human disease, genomicists approach research questions from many angles. In an effort to advance genomic medicine research, NHGRI continually explores ways to use genomic-based clinical tools from the "bedside" and basic tools from the "bench." In April, NHGRI's Genomic Medicine Working Group held its 9th Genomic Medicine Meeting (GM9), entitled "Bedside to Bench - Mind the Gaps." GM9 aimed to continue our long-term effort to address the many challenges of bringing genomics to medicine. GM9 explored how to engage basic genome scientists to tackle the many applied research questions in genomic medicine.

The Power of Model Organisms for Studying Rare Diseases
July 7, 2016

With the human genome consisting of billions of chemical units, scientists have a tremendous amount of information to sift through to understand how the genome works and how it influences human health and disease. Oftentimes, scientists encounter a genomic variant (i.e., an altered spelling) in a gene that they suspect might play a role in a disease being studied. But how do they prove such a relationship? Establishing such 'proof' can be quite challenging. But additional experimentation using model organisms can often provide a key piece of the puzzle.

Clinical Sequencing: Beyond Exploration
June 7, 2016

Often, the advances made in technologies for genome sequencing are cited as a pivotal achievement that will change medical practice in important and productive ways. In fact, I am often a person making such claims, and I stand by them. But that is not to say that I think the path forward will be easy - rather, there are many issues that need to be explored in bringing genome sequencing into medicine. NHGRI has a number of major research programs investigating those issues, a key one being the Clinical Sequencing Exploratory Research (CSER; pronounced 'caesar') Program.

The Center for Inherited Disease Research at Twenty
May 10, 2016

Scientific collaboration on a large scale has been a hallmark of genomics since the beginning of the field. NHGRI has been fortunate to be at the center of many large collaborative projects, such as the Human Genome Project (HGP). While the HGP represents one incredible milestone in the path to understanding human biology, it also resulted in new technologies and resources that are now foundational for many areas of biological research. This progression is nicely illustrated by an NIH-wide collaboration that has given researchers access to key genomic resources for the past 20 years - the Center for Inherited Disease Research (CIDR).

Virtual Reality Technology in Social and Behavioral Research
April 5, 2016

NHGRI's Intramural Research Program houses unique investigative endeavors of various types. One such enterprise is the Immersive Virtual Environment Test Unit, which encompasses the Immersive Virtual Testing Area (IVETA). Founded in 2006, IVETA is an experimental behavioral science research laboratory within the NIH Clinical Center that serves the NHGRI Social and Behavioral Research Branch (SBRB). The focus of IVETA is the development of advanced communications methodologies and technologies for use in behavioral research.

National DNA Day: Celebrating Genomics Through Awareness
March 1, 2016

Since 2003, NHGRI has celebrated 'National DNA Day' on April 25 to commemorate the successful completion of the Human Genome Project and the discovery of DNA's double-helical structure published on this date in 1953. This annual celebration offers students, teachers and the public many exciting opportunities to learn about the latest advances in genomics and to explore how those advances might affect their lives. National DNA Day is a favorite of mine, in part because it gives NHGRI staff the chance to engage with the community through a range of activities - from classroom events to web-based forums.

NHGRI Genome Sequencing Program: Blazing the Path Forward in Human Disease Genomics
February 2, 2016

A few weeks ago, NHGRI renewed its Genome Sequencing Program (GSP), the Institute's largest single grant program that has its origins in the Human Genome Project. Since NHGRI grants are always awarded for a limited number of years at a time, the GSP has experienced a number of 'renewals' - and so this renewal could mistakenly seem like a simple and mindless process. But rest assured, this was not the case!

Future of ENCODE: Looking Deeper into Genome Function
January 5, 2016

The billions of chemical units of DNA that make up a human genome work in often mysterious ways in providing the instructions to build and operate all the cells in the human body. The Human Genome Project, which determined the order of those chemical units (also called nucleotides or bases), was completed nearly 13 years ago. So, what is left to understand? As it turns out - a ton! In fact, genome scientists are just beginning to scratch the surface of understanding all the intricacies of human genome function and how genomic differences influence health and disease.

NHGRI Develops Path Forward to Address Health Disparities
December 2, 2015

In September, NHGRI convened a roundtable meeting to discuss the opportunities and challenges associated with the inclusion and engagement of underrepresented populations in genomics research. The roundtable was organized by NHGRI Senior Advisor on Genomics and Health Disparities, Vence Bonham, J.D. Mr. Bonham's role as Senior Advisor dovetails with his research in the Health Disparities Unit, part of the NHGRI Social and Behavioral Research Branch, in which he conducts research at the intersection of public policy, healthcare inequities, and genomics.

1000 Genomes Project
November 3, 2015

This month, we celebrate National Family History Day. On Thanksgiving, the U.S. Surgeon General encourages you to talk with your family about your family health history. The "My Family Health Portrait" online tool can help you organize your family health history. You can even print out the compiled information to share with family members and your doctor(s). I hope you will take a moment to talk with your family about this important topic - this month or any time of the year. In this month's The Genomics Landscape, I highlight the 1000 Genomes Project, which came to a close last month. See various details below, along with other information items that I hope will be of interest to you.

25th Anniversary of the Launch of the Human Genome Project
October 6, 2015

This month brought a historic 'odometer moment' for the field of genomics - October 1, 2015, marked the 25th anniversary of the launch of the Human Genome Project. I, for one, cannot believe a quarter-century has now passed since many of us started working on the project. At the same time, it is truly incredible to think about how far genomics has progressed since that time. I thought the significance of this anniversary warranted making this topic the lead story in this month's The Genomics Landscape; in addition, I reflect on this important anniversary in a recent video interview now available on the NHGRI website.

The New NHGRI Brochure
September 8, 2015

Throughout its history, NHGRI has been committed to sharing details of its organization and scientific programs with the scientific community and the general public. The Institute has typically communicated its scientific vision through more detailed 'strategic plans' - crafted in collaboration with the research community and published in the scientific literature. These strategic plans have been largely crafted for a scientific audience. To reach a broader audience, the Institute recently developed a new 'eye-catching' NHGRI Brochure. The brochure provides various information about NHGRI as an organization - our history, our core values, our compelling research portfolio, and our various other programs - in a format targeted for a broad audience.

Centers for Mendelian Genomics Program
August 7, 2015

In November 2011, NHGRI and the National Heart, Lung, and Blood Institute (NHLBI) established the Centers for Mendelian Genomics (CMG) program, the goal of which is to identify genomic mutations underlying Mendelian diseases using modern genome-sequencing technologies and to develop the most effective research approaches for uncovering the genetic basis of Mendelian diseases. Mendelian diseases, named after Gregor Mendel (the founder of modern genetics), are rare diseases that are typically transmitted from parents to offspring. While 'rare' at the individual level, Mendelian diseases are thought to collectively affect 25 million people in the United States.

The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program
July 7, 2015

Since 1996, NHGRI, in partnership with Johns Hopkins University (JHU), has offered a unique program: The JHU/NHGRI Genetic Counseling Training Program (GCTP). The program focuses on education in cutting-edge genomics, in-depth psychological counseling training, and research skills for thesis development and execution. The GCTP aims to produce the next generation of leaders in the field. Graduates earn their degree from the Johns Hopkins Bloomberg School of Public Health.

Genotype-Tissue Expression (GTEx) Project Reports Research Result
June 2, 2015

Some day in the not-too-distant future, many people will have their genomes sequenced as part of their routine medical care. It is the hope of many that such genomic information will lead to improved approaches for preventative medicine and personalized treatments. To realize such a future, a detailed knowledge of the role that individual DNA variants play in genome function is needed. An exciting research endeavor that aims to generate that knowledge is the Genotype-Tissue Expression (GTEx) Project.

Genome-Wide Association Studies Catalog
May 5, 2015

The recently announced Precision Medicine Initiative is on the minds of many people these days. Numerous developments are unfolding as the planning phase proceeds, and it seems that everywhere that I go, scientists and non-scientists alike are eager to hear details. Accordingly, I have added a new 'spotlight' on the Precision Medicine Initiative within The Genomics Landscape - immediately before the section containing links of interest. Each month, this spotlight will feature news regarding the Precision Medicine Initiative, so stay on the lookout for these regular updates.

Celebrating DNA Day 2015: Engaging Teachers to Inspire Students
April 7, 2015

On April 24, we will celebrate National DNA Day 2015, which commemorates the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. DNA Day offers students, teachers, and the public exciting opportunities to learn about the latest advances in genomics and to explore how genomics may be meaningful to their lives. Each year, NHGRI celebrates DNA Day with a number of events. This year, the Institute is working to engage teachers in genomics education through a variety of activities and new teaching resources. Below, I highlight some of our DNA Day 2015 activities, as well as our teacher-focused resources that bring genomics into the classroom.

Genomics in Africa
March 3, 2015

Roughly 100,000 years ago, humans migrated out of Africa and started to populate the globe. Although the human species is now associated with significant phenotypic variation, all humans have a genetic origin in Africa. The genomes of people currently living in Africa are more varied than those of people living anywhere else on Earth. Studying the genomes of Africans thus offers important opportunities to characterize and understand genomic variation. Despite this, Africans are largely underrepresented as both research participants and scientists in genetics and genomics.

President Obama's Precision Medicine Initiative
February 5, 2015

February's The Genomics Landscape is later than usual for a good reason! I was in the White House East Room with a number of other NHGRI and NIH colleagues to hear President Obama announce the Precision Medicine Initiative. I'm honored to be part of the extensive planning leading to last week's unveiling, and it will be gratifying to have NHGRI involved in making this important initiative a reality.

Next Phase: NHGRI's Genome Sequencing Program
January 6, 2015

Large-scale genome sequencing has been a central component of NHGRI's Extramural Research Program since the NHGRI's inception, starting with the Human Genome Project. In this month's The Genomics Landscape, I describe the next phase of NHGRI's Genome Sequencing Program and highlight additional items that I hope will be of interest to you.

NHGRI and Social Media
December 4, 2014

It is hard to believe (and, in fact, I find it shocking!) that today marks the beginning of my 6th year as Director of the National Human Genome Research Institute. The last five years have gone by in a flash, and I feel quite proud about what we have accomplished.

Changing the Face of Diagnostics in Clinical Microbiology
November 4, 2014

This issue of The Genomics Landscape describes the evolution of genome sequencing and its impact on public health surveillance and infectious disease diagnostics. Also highlighted: The first BD2K awards, National Family History Day, a new NHGRI executive officer and how to comment on our recent genome sequencing workshop.

Laboratory-Developed Tests: Public Comments Sought
October 7, 2014

In this month's The Genomics Landscape, Dr. Green describes a recent release from the U.S. Food and Drug Administration (FDA) announcing the steps that they are taking to help ensure the reliability of certain diagnostic tests. The FDA announcement comes at a critical transition for genomic medicine.

The Natural Evolution of Genomic Data Sharing
September 3, 2014

Rapid and broad data sharing has been a hallmark of genomics since the early days of the Human Genome Project (HGP). Today, it is well-appreciated in genomics that the work of individual investigators and large collaborative efforts alike benefits from access to data resources such as ENCODE, 1000 Genomes, and The Cancer Genome Atlas (TCGA). Furthermore, the cumulative benefit realized through the culture of genomic data sharing transcends individual projects, and has been essential to accelerating genomics research across the board.

Undiagnosed Diseases Network: Solving Medical Mysteries
August 5, 2014

The Undiagnosed Diseases Program (UDP) launched in 2008 as a partnership among NHGRI, the NIH Clinical Center and the Office of Rare Diseases Research, seeks to provide answers to patients with mysterious conditions that have eluded diagnosis. This multidisciplinary clinical and research team has diagnosed ~100 patients, discovered two previously unknown diseases and identified 50 genes not previously associated with any other human disease.

Mark Guyer, NHGRI founding member and Deputy Director, hangs up his federal hat
July 8, 2014

A big change has occurred at NHGRI this summer. Founding staff member, Dr. Mark Guyer, formally retired from federal service on June 30. For most of his time at NHGRI, Mark was a key leader of the Extramural Research Program; most recently, he was the NHGRI Deputy Director. Much could be said of Mark's career in the federal government. For example, I could describe his critical role in the Human Genome Project, or name the many genomics programs that he has helped to establish and nurture, or tell you about the vital role he has played as a trusted advisor to me and other NHGRI leadership. Instead, I will use this opportunity to share some thoughts about Mark from other people that he has worked with over the course of his impressive career.

Capturing the Past: NHGRI Historical Archiving Initiative
June 3, 2014

Starting with NHGRI's original raison d'être - the Human Genome Project - NHGRI has been closely tied to or led a number of very high-profile genomics projects. These efforts have produced massive volumes of documents, notes, emails, slides, photographs, videos and other materials. As the institute's scientific portfolio widens, the pace of generating such materials is only growing. Several years ago, I realized that we were at risk of losing valuable materials that are of historic value because we lacked a systematic approach for archiving institute resources.

NHGRI's Research Training and Career Development: Genome Science to Genomic Medicine
May 6, 2014

The fast-paced nature of genomics provides seemingly endless opportunities to pursue exciting research. While invigorating, this presents challenges when it comes to ensuring the presence of a strong pool of future researchers and providing genomics expertise to individuals at different points in their scientific careers. Providing genomics training is thus an important component of NHGRI's mission. How does NHGRI's Extramural Research Program prioritize its training efforts? How do we ensure that the appropriate expertise is available to the researchers who will solve complex genomic problems and bring genomics to medical care?

Inspiring the Future Generation of Scientists
April 5, 2014: DNA Day

Engaging students at a young age offers our best chance to inspire them about scientific concepts and the process of scientific inquiry. For that reason, NHGRI has an active and robust outreach and education program. On April 25th, we will celebrate the 12th Annual National DNA Day, which commemorates the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. NHGRI celebrates DNA Day every year with a number of events. Below, I highlight some of our DNA Day programs, as well as our other student- and teacher-focused activities that bring genomics into the classroom.

NHGRI's Extramural Research Portfolio - Slicing the Funding Pie
March 5, 2014

The most important task for an Institute's Extramural Research Program (ERP) is to develop and support a high-quality research portfolio. To this end, NHGRI has undertaken multiple strategic planning efforts, starting with the Human Genome Project and most recently culminating in the publication of "Charting a course for genomic medicine from base pairs to bedside" in 2011. While determining the broad goals for genomics is key for our research agenda, more challenging is making hard decisions about the relative priorities for the various programs that we could fund. Add to that the current challenging budget situation, and we quickly find ourselves facing many difficult choices.

The Big Data to Knowledge (BD2K) Initiative
February 4, 2014

The topic of 'Big Data' (of all sorts) has become a hot one across the industrial, academic, and non-profit sectors. Recognizing the importance of biomedical Big Data to NIH, a Data and Informatics Working Group of the Advisory Committee to the NIH Director made a set of recommendations in 2012 that outlined programmatic ways for NIH to address the opportunities and challenges facing all biomedical researchers in accessing, managing, analyzing, and integrating the increasingly large amount of data. On the basis of that report, the Big Data to Knowledge (BD2K) Initiative was conceived.

A Decade of the NHGRI Social and Behavioral Research Branch
January 7, 2014

As mentioned in last month's The Genomics Landscape, the NHGRI Intramural Research Program (IRP) recently reached its 20-year milestone. With its diverse spectrum of research- from genomic technology development to clinical genomics research and everything in between- the NHGRI IRP continues to serve as an important focal point for genomics research at NIH and worldwide. One of the IRP's key contributions to genomics research is the Social and Behavioral Research Branch (SBRB), now celebrating its 10thanniversary.

Jumping into the Deep End of Genomic Medicine
December 10, 2013

When NHGRI published its new strategic vision for genomics (Charting a course for genomic medicine from base pairs to bedside) in 2011, we recognized that the Institute had a lot to learn about the research needed to apply genomics to clinical care. At the same time, it seemed critical that we begin to establish a foundation of research programs that would facilitate the implementation of genomic medicine, so we decided to jump in and start swimming!

Announcing the first director of NHGRI's Division of Genomics and Society
November 14, 2013

Following an extensive search process, I am delighted to announce my selection for the first Director of the newly established Division of Genomics and Society: Dr. Larry Brody. A long-standing member of the Institute, Larry is currently Chief of the Genome Technology Branch within our Intramural Research Program and Chief Scientific Officer of the trans-NIH Center for Inherited Disease Research.

Welcome Fiscal Year 2014! - Or Not?
October 21, 2013

Today marks the beginning of the third week of Fiscal Year 2014 for the U.S. federal government. Originally, I intended to send out this message on October 1st, at the start of the Fiscal Year. But, among its many other effects, the 16-day government shutdown prevented that. Unfortunately, even though the government has reopened, it is going to take many weeks to resolve the numerous problems created by the shutdown. We are well-aware that the shutdown not only affected us as federal employees, but many of you as well, and those of us at NHGRI (and NIH) are working hard to normalize our operations.

The 10-year anniversary of the Human Genome Project: commemorating and reflecting
April 30, 2013

On April 14, 2003, the National Human Genome Research Institute (NHGRI) and our international partners announced the completion of the Human Genome Project (HGP) and the successful generation of a highly accurate and publically available reference sequence of the human genome. Those ordered ~3 billion letters provided the most fundamental knowledge about the human genetic blueprint and gave us a framework of knowledge for pursuing numerous new and exciting genomic studies.

Considering ACMG's practice guidelines for incidental genomic findings
March 21, 2013

At its recent annual meeting, the Board of Directors of the American College of Medical Genetics and Genomics (ACMG) approved the first set of practice guidelines to help doctors begin to navigate this new area. These practice guidelines represent an important step in using genomic information for routine medical care, a key goal put forward in NHGRI's 2011 strategic plan for genomics. Editor's Note: The American College of Medical Genetics and Genomics (ACMG) has issued a clarification of these guidelines.

Answering Big Questions
December 5, 2012

NHGRI could be called the institute of big questions - and answering big questions often takes big efforts. The big question that led to the creation of the National Human Genome Research Institute (NHGRI) was: "What is the sequence of the human genome?" It was a hard question to contemplate in the mid-1980s, less than four decades after the structure of DNA had first been elucidated and at a time when DNA sequencing technologies were in their infancy. Answering the "3 billion letter" question seemed like a herculean task at the time.

NHGRI and the Smithsonian Institution: a new partnership
June 5, 2012

Early in the summer of 2013, the Smithsonian's National Museum of Natureal History (NMNH) will open a special exhibition on genomics and the human genome. This opening is timed to commemorate the 10th anniversary of the completion of the Human Genome Project, which produced the first high-quality reference sequence of the human genome, and the 60th anniversary of the famous Nature paper in which James Watson and Francis Crick first reported DNA's double-helical structure.

Human Genome Project produces many benefits
November 17, 2011

For years, many considered the Human Genome Project to be biology's equivalent to "the moon shot." In collaboration with its global partners, the U.S. government did what no individual or company could do: invested in a technologically risky scientific enterprise with a potentially big payoff. The project was an overwhelming success, delivering the first rough draft human genome sequence in 2000 and the final high-quality version in 2003 - ahead of schedule and under budget.

NHGRI Charts Course for Genomic Medicine
February 11, 2011

This February, we celebrate the tenth anniversary of the initial sequence and analysis of the draft human genome sequence published in Nature with input from thousands of scientists working on behalf of the Human Genome Project. The analysis was a game changer. Before the genome, a researcher might spend months acquiring DNA and trying to identify a gene. After the genome, the researcher could open a web browser and look it up. The sequence and analysis of the human genome accelerated research dramatically.

Vanity Genomes and the Future of Medical Sequencing
September 10, 2010

Five-time, Oscar-nominated actress Glenn Close had hers done. So did Nobel Peace Prize winner Archbishop Desmond Tutu. The double helix-writing geneticist James Watson did not want to know about everything that was in his. But everyone wants to know what is in British heavy metal rocker Ozzy Osbourne's - it might help explain how he is still alive today after decades of dissolute living.

Celebrating the 10th Anniversary of the Draft Human Sequence
March 1, 2010

Ten years ago this June, my predecessor, Francis Collins, stood in the East Room of the White House with President Bill Clinton and declared the first draft of the human genome sequence complete. It's been a remarkable decade for the field of genomics, and this year, 2010, will be another important one.

Introducing New NHGRI Director, Dr. Eric Green
January 1, 2010

This is a profoundly exciting time for the National Human Genome Research Institute (NHGRI) and for genomics. There are vast opportunities for genomics research to make major contributions to our understanding of human disease, including its diagnosis, treatment and even prevention. As I take the helm of NHGRI, I find the institute well-positioned to pursue its important mission by capitalizing on these opportunities.