An online tool launched by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.
"I’m delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," said NIH Director Francis S. Collins, M.D., Ph.D., who unveiled GTR at NIH's observance of international Rare Disease Day. "This registry will help a lot of people — from health care professionals looking for answers to their patients’ diseases to researchers seeking to identify gaps in scientific knowledge."
Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential information about people who receive genetic tests or individual test results.
Genetic tests that the Food and Drug Administration has cleared or approved as safe and effective are identified in the GTR. However, most laboratory developed tests currently do not require FDA premarket review. Genetic test providers will be solely responsible for the content and quality of the data they submit to GTR. NIH will not verify the content, but will require submitters to agree to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis. If submitters do not adhere to this code, NIH can take action, including requiring submitters to correct any inaccuracies or to remove such information from GTR.
In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test’s clinical utility, or how likely the test is to improve patient outcomes.
"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories," said Wendy Rubinstein, M.D., Ph.D., director of GTR. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."
GTR is built upon data pulled from the laboratory directory of GeneTests, a pioneering NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR.
The GTR database was developed by the National Center for Biotechnology Information (NCBI), part of NIH’s National Library of Medicine, under the oversight of the NIH Office of the Director and with extensive input from researchers, testing labs, health care providers, patients and other stakeholders. To view video tutorials on how to use GTR, go to http://www.youtube.com/playlist?list=PL1C4A2AFF811F6F0B.
The Office of the Director, the central office at NIH, is responsible for setting policy for NIH, which includes 27 Institutes and Centers. This involves planning, managing, and coordinating the programs and activities of all NIH components. The Office of the Director also includes program offices which are responsible for stimulating specific areas of research throughout NIH. Additional information is available at http://www.nih.gov/icd/od/.
NCBI creates public databases in molecular biology, conducts research in computational biology, develops software tools for analyzing molecular and genomic data, and disseminates biomedical information, all for the better understanding of processes affecting human health and disease. NCBI is a division of the National Library of Medicine, the world's largest library of the health sciences.
Source: NIH Press Release
Showing posts with label NIH. Show all posts
Showing posts with label NIH. Show all posts
Thursday, March 1, 2012
Thursday, January 5, 2012
Final Health IT Innovators Win Funding for Cancer Treatment Apps
Innovative winners of a U.S. Department of Health and Human Services (HHS) public data and cancer challenge have created health IT applications that use public data and existing technology to help patients and health care professionals prevent, detect, diagnose and treat cancer. The two winners presented their submissions during a special symposium at the Hawaii International Conference on Systems Sciences and were each awarded $20,000 by the Office for the National Coordinator for Health Information Technology (ONC).
The two winning applications include:
- Ask Dory! – submitted by Chintan Patel, Ph.D.; Sharib Khan, M.D., M.A., M.P.H.; and Aamir Hussain of Applied Informatics LLC – helps patients find information about clinical trials for cancer and other diseases, integrating data from www.ClinicalTrials.gov and making use of an entropy-based, decision-tree algorithm. A functional demonstration of the application is available at http://Dory.trialx.com .
- My Cancer Genome – submitted by Mia Levy, Ph.D., M.D., of the Vanderbilt University Medical Center – provides therapeutic options based on the individual patient’s tumor gene mutations, making use of the NCI’s physician data query clinical trial registry data set and information on genes being evaluated in therapeutic clinical trials. The app is in operation at www.MyCancerGenome.org .
Information on the four semifinalist teams can be found at http://go.USA.gov/5DA.
With the support of the National Cancer Institute, part of the National Institutes of Health, ONC launched the “Using Public Data for Cancer Prevention and Control: From Innovation to Impact” challenge during the summer of 2011 in support of ONC’s Investing in Innovation (i2) program. The i2 program utilizes prizes and challenges to facilitate innovation and obtain solutions to intractable health IT problems. Aligned with the Obama administration’s innovation agenda, i2 is the first federal program to operate under the authority of the America COMPETES Reauthorization Act.
“What makes these health IT challenges so powerful is their ability to catalyze the expertise and creativity of innovators both in and out of health care,” said Wil Yu, ONC’s special assistant for innovations. “We seek breakthrough solutions to nuanced issues; some are ready for the marketplace and some are prototypes, but all will have a great potential to benefit Americans. Ask Dory and My Cancer Genome are examples of results that innovation challenges can incentivize and deliver – we’re really excited to see their impact.”
For additional details on the “Using Public Data for Cancer Prevention and Control” challenge, visit www.Health2Challenge.org/using-public-data-for-cancer-prevention-and-control-from-innovation-to-impact-2.
For additional information about ONC or on the Investing in Innovation (i2) program, visit http://HealthIT.HHS.gov.
Source: HHS News Release
The two winning applications include:
- Ask Dory! – submitted by Chintan Patel, Ph.D.; Sharib Khan, M.D., M.A., M.P.H.; and Aamir Hussain of Applied Informatics LLC – helps patients find information about clinical trials for cancer and other diseases, integrating data from www.ClinicalTrials.gov and making use of an entropy-based, decision-tree algorithm. A functional demonstration of the application is available at http://Dory.trialx.com .
- My Cancer Genome – submitted by Mia Levy, Ph.D., M.D., of the Vanderbilt University Medical Center – provides therapeutic options based on the individual patient’s tumor gene mutations, making use of the NCI’s physician data query clinical trial registry data set and information on genes being evaluated in therapeutic clinical trials. The app is in operation at www.MyCancerGenome.org .
Information on the four semifinalist teams can be found at http://go.USA.gov/5DA.
With the support of the National Cancer Institute, part of the National Institutes of Health, ONC launched the “Using Public Data for Cancer Prevention and Control: From Innovation to Impact” challenge during the summer of 2011 in support of ONC’s Investing in Innovation (i2) program. The i2 program utilizes prizes and challenges to facilitate innovation and obtain solutions to intractable health IT problems. Aligned with the Obama administration’s innovation agenda, i2 is the first federal program to operate under the authority of the America COMPETES Reauthorization Act.
“What makes these health IT challenges so powerful is their ability to catalyze the expertise and creativity of innovators both in and out of health care,” said Wil Yu, ONC’s special assistant for innovations. “We seek breakthrough solutions to nuanced issues; some are ready for the marketplace and some are prototypes, but all will have a great potential to benefit Americans. Ask Dory and My Cancer Genome are examples of results that innovation challenges can incentivize and deliver – we’re really excited to see their impact.”
For additional details on the “Using Public Data for Cancer Prevention and Control” challenge, visit www.Health2Challenge.org/using-public-data-for-cancer-prevention-and-control-from-innovation-to-impact-2.
For additional information about ONC or on the Investing in Innovation (i2) program, visit http://HealthIT.HHS.gov.
Source: HHS News Release
Monday, October 31, 2011
NLM Honors Winners of Software Development Challenge
Five innovative software applications that help researchers, health professionals, and the general public in their quest for medical and scientific information are the winners of the National Library of Medicine's first software development challenge.
The winning applications can help people learn about anatomy, help researchers find gene information in research literature, and help people sift through large amounts of scientific and medical information.
The library's software development challenge, Show off Your Apps: Innovative Uses of NLM Information, solicited applications that used the library’s data to develop innovative ways for people to obtain and share scientific and medical information. Entrants could create a new app, or submit an existing one. An independent panel of judges chose five winners and five honorable mentions.
The National Library of Medicine (NLM), part of the National Institutes of Health, is the world’s largest medical library and itself a pioneer and innovator in the use of technology to improve access to biomedical and health information. NLM provides a wide variety of information online by developing groundbreaking databases and software tools that enable people to explore medical literature, clinical trials, historical images, DNA sequences and much more.
"NLM was a leader in open data long before that term was coined," says U.S. Department of Health and Human Services (HHS) Chief Technology Officer Todd Park. "Challenges like this one bring the library’s rich data sources to the attention of new groups of innovators."
"By making our data available for others to use, we spark more innovation and give taxpayers a bigger dividend on their investment," says Donald A.B. Lindberg, M.D., director of the NLM, which is celebrating its 175th anniversary this year.
Click here to view the winners of the Challenge.
Click here for more information about the Software Development Challenge.
Source: NIH News Release
The winning applications can help people learn about anatomy, help researchers find gene information in research literature, and help people sift through large amounts of scientific and medical information.
The library's software development challenge, Show off Your Apps: Innovative Uses of NLM Information, solicited applications that used the library’s data to develop innovative ways for people to obtain and share scientific and medical information. Entrants could create a new app, or submit an existing one. An independent panel of judges chose five winners and five honorable mentions.
The National Library of Medicine (NLM), part of the National Institutes of Health, is the world’s largest medical library and itself a pioneer and innovator in the use of technology to improve access to biomedical and health information. NLM provides a wide variety of information online by developing groundbreaking databases and software tools that enable people to explore medical literature, clinical trials, historical images, DNA sequences and much more.
"NLM was a leader in open data long before that term was coined," says U.S. Department of Health and Human Services (HHS) Chief Technology Officer Todd Park. "Challenges like this one bring the library’s rich data sources to the attention of new groups of innovators."
"By making our data available for others to use, we spark more innovation and give taxpayers a bigger dividend on their investment," says Donald A.B. Lindberg, M.D., director of the NLM, which is celebrating its 175th anniversary this year.
Click here to view the winners of the Challenge.
Click here for more information about the Software Development Challenge.
Source: NIH News Release
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