 So thank you, everyone, for joining us here today for this public session of the Insight Consortium, the Newborn Sequencing in Genomic Medicine and Public Health Program. Today we're going to have a number of presentations for you. We'll be starting off with just a brief introduction to the Insight Program, telling you a little bit about where the program originated and how we got to where we are today. We're then going to follow that up with presentations from all four of the sites that are part of the Insight Consortium to tell you a little bit about their work and their research findings that they have found to date. And then finally we're going to conclude with a panel discussion where those of you who are participating with us publicly online can ask any questions that you have of the investigators that are part of the network. There's an email address online at the GenomeTV website that will let you connect to us at insight.nih.gov. And so you can send all of your questions there if you have any about the presentations and we'll handle those during the panel discussion. So to start off with I wanted to give everyone just some general introduction materials to the presentations that you're going to be hearing today. So a number of the programs today are all going to be talking to you about DNA sequencing. The Insight Program was set up to be able to study how sequencing could potentially be utilized in the Newborn period. When investigators do sequencing as part of a research project they're looking to be able to determine the chemical components or building blocks or bases that make up our genetic code. And from this information they're then looking to determine what stretches of DNA that have genes that have regulatory instructions turn on or off different parts of our genome. And this allows for genes to be able to make messages that then cause proteins to be able to do different functions within our body. So these exons are typically the coding then regions of the gene. When we talk about sequencing in these programs you'll hear the investigators talking about two different types of sequencing. The first of these genome sequencing covers most of the genome at once. So this is covering almost 3 billion of those base pairs that we talked about in humans. But when you do exome sequencing you're just looking at what would be one slice of the pie. You're just looking at about one percent of the human genome. And this is just covering that exonic regions or those coding regions of the genome that we just mentioned. So there is a difference between the individuals who are doing genome sequencing covering most of a genome versus exome sequencing which is just going to be covering those coding regions. So why was this important? Back when the insight program was first discussed the cost of sequencing had been falling dramatically and there was a lot of interest in how sequencing could potentially be used more in a clinical context. And one of the context that was discussed was the idea of newborn screening. Newborn screening is a highly successful national health program in the United States and it screens approximately four million babies a year in the U.S. This identifies babies that have serious conditions so that they can be treated before those harmful effects happen. And so newborn screening is currently one of the largest genomic genetic testing programs that occurs in the United States. So there was a lot of interest in could sequencing potentially add additional information to the newborn screening that's being done in the United States or potentially in other contexts to be able to help with newborn care. To investigate this question of what if we applied sequencing to the time period of newborns. We held a workshop back in 2010 that was jointly hosted between NICHD, the Child Health Institute and NHGRI, the Genome Institute to be able to look at this question of what would happen if we applied sequencing in a newborn time period. And overall there were three main outcomes that came out of that meeting. The first was that the experts called together for this workshop really felt that it was going to be important to be able to evaluate genomic data in newborns to be able to see whether or not it could potentially be useful for screening and that it needed to be evaluated in the context of screening as a public health program not just being a single test that you needed to be able to really think about how would you get this information back and utilize the entire public health network. Second, there was a lot of concern about how sequencing could potentially be utilized to better understand variants that would be applied clinically. So could you get data that would help you to understand the clinical validity of a variant? Could you understand more about particular variants that were causing the disease in that particular infant and therefore be able to better choose treatment or potentially management and care for those individuals going forward? And then third, there was a real interest in better understanding the ELSI issues related to newborn screening and sequencing in the newborn period. And ELSI issues refer to the ethical, legal, or social implications of research. And so it was very important to not just know could we do the sequencing in the newborn period but how should we be doing it? Was the information going to be valuable or important in the newborn context? And was it really critical in that newborn time period versus potentially being useful later in life? So the INSIGHT program was put together to be able to focus on exploring in a limited but very deliberate manner opportunities to be able to use genomic information to broaden our understanding of diseases that are identified in the newborn period. All of the projects that are part of INSIGHT have three main components. They all had to include a component that was doing sequencing or another large-scale sequencing effort, so exomes or genomes. They all had to have a section that focused on being able to do clinical research, so understanding how this information could actually be used for the clinical care of newborns. And then all of the projects had to have an ELSI study, focusing on the possible implementation of genomic sequencing in the newborn period and how this would affect ethical, legal, and social implications. So what were the implications of this research? There were also three main questions that were outlined for the INSIGHT study, and these were all outlined in the initial call for applications as questions that came out of the workshop that needed to be addressed. The first of these questions was to really look at disorders that were already screened for in newborn screening and determine whether or not sequencing could replicate or augment the results that came out of the current newborn screening program. The second question was then to focus about knowledge that could be gained for conditions that are not currently screened for in the current newborn screening program. So could you learn things from sequencing that could potentially still be relevant to newborns that couldn't be screened for using the current mass-spec technology? And then finally, we wanted to look at what additional clinical information just in general could be gained from using sequencing in the newborn period that could be relevant to the clinical care of these infants in more of a genomic medicine context. So could you learn something for the care of sick infants beyond what's currently done in the newborn screening public health arena? To give you a sense of the timeline of how we got to where we are today, the workshop that we mentioned was held back in December of 2010. This was then followed up with an announcement to be able to receive applications that were due in November of 2012. The awards went out in September of 2013 and are concluding in August of this year. And then at today's public session, we'll be telling you a little bit about the results from the four studies that were funded as part of the Insight effort. Those four groups are UCSF, UNC Chapel Hill, Brigham and Wilmingt Hospital, Boston Children's Hospital, and Baylor College of Medicine working together, and then a team at Rady Children's and Children's Mercy. And so you'll be hearing from all four of those groups today in the presentation, and you can find out more about the Insight program at the website address that's listed here. And if you have any questions during the presentations, please feel free to send them to the email address listed here for insight at nih.gov, and we'll address those questions as we go into the panel discussion at the end of today's talks. And with that, I would like to thank you all for listening in and we'll move into our first presentation. So starting off our presentations today, we will have Jennifer Puck from UCSF.