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.
October Genomics Landscape
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.
September Genomics Landscape
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.
August Genomics Landscape
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.
July Genomics Landscape
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.
June Genomics Landscape
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?
May Genomics Landscape
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.
?April Genomics Landscape
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.
March Genomics Landscape
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.
February Genomics Landscape
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 10th anniversary.
January Genomics Landscape
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!
December Genomics Landscape
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.
November Genomics Landscape
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.
October Genomics Landscape
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.
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.
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.
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.
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.
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.
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.
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.
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.
Last Updated: November 4, 2014
Posted: February 2010