NIH Establishes Genetic Testing Registry

An online tool launched today 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.

Source: NIH News Release

NIH Launches New Website About “Clinical Research Trials and You”

The National Institutes of Health has created a new website, NIH Clinical Research Trials and You to help people learn more about clinical trials, why they matter, and how to participate. From the first cure of a solid tumor with chemotherapy to the use of nitroglycerin in response to heart attacks, clinical research trials — or research studies involving people — have played a vital role in improving health and quality of life for people around the globe.

Clinical trials are essential for identifying and understanding ways to prevent, diagnose, and treat disease. Research has shown that among the greatest challenges to recruitment of volunteers is the lack of general knowledge about what trials involve, where they are carried out, and who may participate.

“The ability to recruit the necessary number of volunteers is vital to carrying out clinical research that leads to health and medical advances,” said NIH Director Francis S. Collins, M.D., Ph.D. “This new, centralized resource will make it much easier for the public and health professionals to learn about clinical trials and how people can participate in them.”

Visitors to the website will find information about:

• The basics of clinical trial participation
• First hand experiences from actual clinical trial volunteers
• Explanations from researchers
• Links on how to search for a trial or enroll in a research matching program

In addition, health care professionals can read about evidence-based strategies for talking with patients about trials, print audience-tested posters to help promote trials in clinics and offices, and find other educational materials.

Source: NIH News Release

NIH Launches Online Genetics Course For Social And Behavioral Scientists

A new genetics educational program(http://www.nchpeg.org/bssr/) will provide social and behavioral scientists with sufficient genetics background to allow them to engage effectively in interdisciplinary research with genetics researchers.  The Office of Behavioral and Social Sciences Research (OBSSR) at the National Institutes of Health, partnered with the National Coalition for Health Professional Education in Genetics to create the free, Web-based project.

Increasingly, scientific outcomes are not fully explained by genetic, environmental, or social factors alone or as independent contributors.  Instead, public health advances and scientific breakthroughs tend to rely on transdisciplinary teams of social scientists and genetic researchers.  This creates a greater need among social and behavioral scientists for an understanding of the complexity of the genetic contribution to health, disease and behaviors.

The overarching goal of the course, Genetics and Social Science: Expanding Transdisciplinary Research, is to improve these scientists’ genetics literacy in several key areas, broadly grouped into conversation, imagination, evaluation and integration.  The course will provide sufficient knowledge to support the integration of genetics concepts in the behavioral or social scientist’s own research and will allow for collaborative studies with geneticists. The course will provide users with the ability to conceive of progressive but feasible studies.  Scientists will develop the skills necessary to assess genetics research for validity and utility.

Because behavioral and social scientists have a very large breadth of expertise, the course focuses on core concepts that are applicable to most scientists, no matter where they are in their careers or training.  The course was developed by an advisory committee with experts from a wide range of areas, including addiction, psychiatry, anthropology, obesity, clinical genetics, and race and ethnicity.  The core areas are: variation (e.g., sources of genetic variation, biological pathways); gene-environment interaction; population issues; clinical issues (e.g., family history) and research issues (e.g., data sharing).  The course was developed based on adult learning theory, which focuses on active learning and self-direction, allowing for users to choose their own path through the interactive content.

Scientists using the online course can choose to learn through four case studies–tobacco, obesity, major depression, and breast cancer.  The interactive case studies build the scientist’s knowledge and comfort with the concepts in a stepwise manner.  The general structure for each case study includes a statement of the problem, an interactive review of the pertinent literature, a discussion of the approach to research in this area, exercises to develop the next research question, opportunities for collaboration and a discussion of the clinical implications.  Each case study will link to specific core concepts (variation, gene-environment interaction, population, clinical or research issues) to allow the user to determine his or her learning style.

See www.nchpeg.org/bssr to experience the online course, Genetics and Social Science: Expanding Transdisciplinary Research.

Source: http://www.nih.gov/news/health/jan2012/od-03.htm.

NIH Hosts Career Workshop for Post-Docs

On behalf of the National Institute of General Medical Sciences, the Federation of American Societies for Experimental Biology (FASEB) is organizing the 2012 Workshop for Postdocs Transitioning to Independent Positions on March 12-13, 2012, at the National Institutes of Health in Bethesda, MD.

The Workshop is intended for postdocs; however, senior graduate students (within one year of completion of Ph.D. study) will also be considered, space permitting. The application deadline has been extended to January 6, 2012.  For more information and to download the workshop application, please visit: http://nigmsworkshop.org.

NIH Seeks Input on Clinical Center Collaborations

In December 2010, the Scientific Management Review Board (SMRB) released a report stating that the NIH Clinical Center is in a prime position to provide a critical resource to members of the clinical research community from outside the NIH’s own ranks. The SMRB recommended that the NIH CC find mechanisms to provide its resources and environment to extramural researchers.

On October 12, 2011, the NIH released a Request for Information, NOT-OD-12-005, in an effort to solicit input from the research community regarding the paradigms by which such activity as recommended by the SMRB be executed.

The NIH CC is looking to provide access to a number of different resources to researchers who are not being readily supported elsewhere. At this time, the RFI is not focused on specific projects or establishing the collaborative partnerships, but rather on designing the mechanisms by which extramural researchers can partner with intramural researchers and potentially access the following types of resources: equipment; goods, products, and services; patient cohorts; and, training activities.

One of the basic requirements of the program is that all proposed projects must be a collaborative endeavor between researchers within and outside of the NIH; this will be more involved than obtaining access to the CC’s resources.

The RFI is requesting responses that are focused on determining how partnering with the CC would help you, which resources are of greatest interest, what barriers currently exist to partnering with the CC, and what should be done to address those barriers.

All responses must be submitted by December 1, 2011.

The NIH Clinical Center describes itself as a hospital that is solely focused on clinical research, including the support of studies that are considered challenging and high-risk but with a potential for great reward and new breakthroughs.

More information can be found here: http://grants.nih.gov/grants/guide/notice-files/NOT-OD-12-005.html

NIH Launches Medical Research Scholars Program

A new Medical Research Scholars Program for medical and dental students will begin in September 2012 in Bethesda, Md., the National Institutes of Health has announced. The program will offer research experiences with intramural investigators from across NIH in basic science laboratories, and in clinical and translational research conducted at the NIH Clinical Center, the world’s largest hospital dedicated to patient-oriented research.

The program is made possible through a partnership with the Foundation for the National Institutes of Health supported by a grant from Pfizer Inc and contributions from the Howard Hughes Medical Institute.

The Medical Research Scholars Program builds upon the long history that the NIH intramural program has had in preparing clinician-scientists for leadership roles in biomedical research and incorporates the Howard Hughes Medical Institute (HHMI)-NIH Research Scholars Program and the NIH Clinical Research Training Program (CRTP). The HHMI-NIH Research Scholars Program has historically focused on research in the basic sciences. CRTP participants engage in clinical and translational research. Basic, clinical, and translational research will be part of the Medical Research Scholars Program.

Program applications will be accepted Oct. 1, 2011 through mid-January 2012. About 40 students are expected to be admitted during the program’s first year. The goal is to accept up to 70 students as the program grows.

Support for students selected for the program includes a stipend and resources for education enrichment, such as travel to scientific meetings. There will be a curriculum in clinical protocol development and the conduct of human subjects research, along with seminars focusing on basic and laboratory studies and their translation into clinical protocols.

via NIH News

HHS Tightens Financial Conflict of Interest Rules for Researchers

The U.S. Department of Health and Human Services today issued an updated Final Rule on conflict of interest, providing a framework for identifying, managing, and ultimately avoiding investigators’ financial conflicts of interest Staff from the National Institutes of Health worked with others in HHS to revise the 1995 regulations to update and enhance the objectivity and integrity of the research process.

Major changes to the regulations include the definition of significant financial interest (SFI), the extent of investigator disclosure, the information reported to the Public Health Service (PHS) awarding component, the information made accessible to the public, and investigator training. For example, the revised regulations:

• Require investigators to disclose to their institutions all of their significant financial interests related to their institutional responsibilities.
• Lower the monetary threshold at which significant financial interests require disclosure, generally from $10,000 to $5,000.
• Require institutions to report to the PHS awarding component additional information on identified financial conflicts of interest and how they are being managed.
• Require institutions to make certain information accessible to the public concerning identified SFIs held by senior/key personnel.
• Require investigators to complete training related to the regulations and their institution’s financial conflict of interest policy.

Additional details about the major changes to the regulations can be found at: (http://grants.nih.gov/grants/FCOI_Final_Rule_inspection_Desk.pdf).

The regulations will be implemented no later than 365 calendar days after publication of the final rule in the Federal Register.

Read more via http://www.nih.gov/news/health/aug2011/od-23.htm.

NIH, CDC Offer New Diabetes Education Resources

New videos to help people make lifestyle changes and cope with the demands of diabetes were announced by the U.S. Department of Health and Human Services’ National Diabetes Education Program (NDEP). The series of three- to five-minute videos, which can be found at www.YourDiabetesInfo.org/HealthSense address topics such as setting goals to improve health, living with diabetes, finding the support you need, as well as segments on diabetes prevention and physical activity.

The video series is the latest addition to NDEP’s offerings in lifestyle change. The videos are being released to coincide with the redesign of NDEP’s online library of behavior change resources, Diabetes HealthSense. Diabetes HealthSense provides users with a searchable database of research, tools, and programs to address the wide array of psychosocial and lifestyle-change challenges associated with diabetes self-management. Resources included in Diabetes HealthSense have been reviewed by a team of leading independent experts on psychosocial issues with specific expertise in the science of behavior change.

“For more than 14 years, the NDEP has been in the forefront of raising awareness about diabetes, but more needs to be done to provide resources and tools to support health care providers and their patients when it comes to achieving and sustaining health goals,” said Griffin P. Rodgers, M.D., director of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health, one of the sponsors of NDEP.

Visitors to the Diabetes HealthSense site can view videos featuring expert professionals who are volunteers to NDEP — as well as people living with diabetes or working to prevent type 2 diabetes — about setting goals and making lifestyle changes. Initial videos (with more in the series to follow) include the following topics:

• setting goals to improve your health
• managing type 2 diabetes
• living with type 2 diabetes: finding the support you need
• preventing type 2 diabetes
• maintaining a healthy weight
• practical tips and action steps: physical activity

Additionally, visitors can choose what they’d like help with, such as how to cope with stress and emotions, eat healthy, or be active. They can also utilize tracking tools for calories or physical activity, or online programs to help them manage their weight or stop smoking.

“It’s common to feel overwhelmed, sad, or angry when you are living with a chronic disease such as diabetes,” said NDEP’s executive committee chair and certified diabetes educator Martha M. Funnell, M.S., R.N. “A person may know what to do to improve their health, but figuring out how to do it can be one of the biggest challenges. For example, people know that being physically active can help them lose weight. But do they know how to take the necessary steps to become more physically active and keep it up over time?”

Diabetes HealthSense includes links to tools and programs to help people set goals and find ways to deal with the stress and emotions that can prevent a person from achieving their goals — whether they have diabetes or are at risk for the disease.

NDEP is jointly sponsored by NIH and the Centers for Disease Control and Prevention. NDEP works with more than 200 partners and offers materials and resources to the general public, people diagnosed with diabetes, and health care and business professionals. NDEP resources are available at www.YourDiabetesInfo.org or by calling toll-free 1-888-693-NDEP (1-888-693-6337).

The NIDDK, a component of the National Institutes of Health (NIH), conducts and supports research on diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition and obesity; and kidney, urologic and hematologic diseases. Spanning the full spectrum of medicine and afflicting people of all ages and ethnic groups, these diseases encompass some of the most common, severe, and disabling conditions affecting Americans. For more information about the NIDDK and its programs, see www.niddk.nih.gov.

CDC’s Division of Diabetes Translation works to reduce the preventable burden of diabetes through public health leadership, partnership, research, programs, and policies that translate science into practice. For more information, see www.cdc.gov/diabetes.

About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

5-Minute Screening Identifies Subtle Signs Of Autism In 1-Year Olds

A five-minute checklist that parents can fill out in pediatrician waiting rooms may someday help in the early diagnosis of autism spectrum disorder (ASD), according to a study funded by the National Institutes of Health. Published today in the Journal of Pediatrics, the study’s design also provides a model for developing a network of pediatricians to adopt such a change to their practice.

“Beyond this exciting proof of concept, such a screening program would answer parents’ concerns about their child’s possible ASD symptoms earlier and with more confidence than has ever been done before,” noted Thomas R. Insel, M.D., director of the National Institute of Mental Health (NIMH), part of NIH.

Identifying autism at an early age allows children to start treatment sooner, which can greatly improve their later development and learning. However, many studies show a significant delay between the time parents first report concerns about their child’s behavior and the eventual ASD diagnosis, with some children not receiving a diagnosis until well after they’ve started school.

Recognizing the need to improve early ASD screening, Karen Pierce, Ph.D., of the University of California, San Diego, and colleagues established a network of 137 pediatricians across San Diego County. Following an hour-long educational seminar, the pediatricians screened all infants at their 1-year, well-baby check-up using the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist, a brief questionnaire that detects ASD, language delay, and developmental delay. The questionnaire asks caregivers about a child’s use of eye gaze, sounds, words, gestures, objects and other forms of age-appropriate communication. Any child who failed the screen was referred for further testing and was re-evaluated every six months until age 3.

Out of 10,479 infants screened, 32 were identified as having ASD. After excluding for late onset and regression cases, this is consistent with current rates that would be expected at 12 months, according to the researchers. When including those identified as having language delay, developmental delay, or some other form of delay, the brief screen provided an accurate diagnosis 75 percent of the time.

Following the screen, all toddlers diagnosed with ASD or developmental delay and 89 percent of those with language delay were referred for behavioral therapy. On average, these children were referred for treatment around age 17 months. For comparison, a 2009 study using data from the Centers for Disease Control and Prevention found that, on average, children currently receive an ASD diagnosis around 5.7 years (68.4 months) of age, with treatment beginning sometime later.

In addition to tracking infant outcomes, the researchers also surveyed the participating pediatricians. Prior to the study, few of the doctors had been screening infants systematically for ASD. After the study, 96 percent of the pediatricians rated the program positively, and 100 percent of the practices have continued using the screening tool.

“In the context of a virtual lack of universal screening at 12 months, this program is one that could be adopted by any pediatric office, at virtually no cost, and can aid in the identification of children with true developmental delays,” said Dr. Pierce.

The researchers note that future studies should seek to further validate and refine this screening tool, track children until a much older age, and assess barriers to treatment follow up.

This study was also supported by an NIMH Autism Center of Excellence grant as well as Autism Speaks and the Organization for Autism Research.

The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit <http://www.nimh.nih.gov>.

REFERENCE:
Pierce K, Carter C, Weinfeld M, Desmond J, Hazin R, Bjork R, Gallagher N. Catching, Studying, and Treating Autism Early: The 1-Yr Well-Baby Check-Up Approach. J Pediatr. 2011 Apr. [Epub ahead of print]

Source: NIH News Release

NIH Clarification on Review of Animal Research

The National Institutes of Health (NIH) has issued notice NOT-OD-10-128 to clarify how the Vertebrate Animal Section (VAS) of applications for grants, fellowships, and cooperative agreements is evaluated as part of the NIH peer review process and is considered as part of the overall scoring. Further clarification is provided on the oversight role of the Institutional Animal Care and Use Committee (IACUC) and review responsibility of NIH Scientific Review Groups (SRG). Read more.