Patient’s Whole Genome Reveals Risk of Diseases and Adverse Drug Responses

May 1, 2010 | by

Scientists at Stanford and Harvard Universities collaborated to assess the clinical usefulness of analyzing a patient’s full genome for disease risks and unusual drug responses. The work brings closer to reality the concept that whole-genome sequencing might one day play a clinical role.

The analysis, which was supported by the National Institutes of Health (NIH), appears in the May 1, 2010 issue of Lancet.

The authors evaluated the entire genome of a 40-year old man and compared it to several databases of disease-related gene variants. They also factored in the patient’s medical and family history and statistical disease risks. As part of the work, the researchers provided the patient with genetic counseling and clinical tests relevant to his family history.

The genome analysis revealed variants associated with diseases in the man’s family (osteoarthritis, vascular disease and early sudden death). It also uncovered variants linked to conditions not in his family (iron overload and thyroid and parathyroid diseases). Some variants suggested that he might have unusual responses to certain heart medications, which is meaningful in light of his risk for cardiovascular disorders.

Traditional ‘Heel Stick’ Test Is Not an Effective Screening Tool for CMV in Newborns

April 13, 2010 | by

A routine screening test for several metabolic and genetic disorders in newborns, the heel-stick procedure, is not effective in screening for cytomegalovirus (CMV) infection, a leading cause of hearing loss in children, according to research published in the April 14 online issue of the Journal of the American Medical Association.

About 20,000-30,000 infants are born infected with CMV each year, 10-15 percent of whom are at risk for eventually developing hearing loss.

The study, funded by the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health, is part of a multicenter research project headed by the University of Alabama at Birmingham that is seeking to find the most effective screening test for CMV infection in newborns. The standard method for detecting CMV infection in newborns is labor-intensive and not conducive to a widespread screening program.

Common Mechanisms of Drug Abuse and Obesity

March 31, 2010 | by

Some of the same brain mechanisms that fuel drug addiction in humans accompany the emergence of compulsive eating behaviors and the development of obesity in animals, according to research funded by the National Institute on Drug Abuse (NIDA), a component of the National Institutes of Health.

The study, conducted by researchers at the Scripps Research Institute, was released on March 28th in the online version of Nature Neuroscience and will also appear in the journal’s May 2010 print issue. When investigators gave rats access to varying levels of high-fat foods, they found unrestricted availability alone can trigger addiction-like responses in the brain, leading to compulsive eating behaviors and the onset of obesity.

“Drug addiction and obesity are two of the most challenging health problems in the United States,” said Dr. Nora D. Volkow, director of NIDA. “This research opens the door for us to apply some of the knowledge we have gathered about drug addiction to the study of overeating and obesity.”

Both obesity and drug addiction have been linked to a dysfunction in the brain’s reward system. In both cases overconsumption can trigger a gradual increase in the reward threshold — requiring more and more palatable high fat food or reinforcing drug to satisfy the craving over time.

NIH Announces Genetic Testing Registry

March 20, 2010 | by

The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.

Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.

The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. As such, the registry will have several key functions:

  • Encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests
  • Provide an information resource for the public, including researchers, health care providers and patients, to locate laboratories that offer particular tests
  • Facilitate genomic data-sharing for research and new scientific discoveries

NIH Director Francis S. Collins, M.D., Ph.D., said:

The need for this database reflects how far we have come in the last 10 years. The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more and more common and accessible. Our combined expertise in biomedical research and managing such large databases makes NIH the ideal home for the registry.

The GTR project will be overseen by the NIH Office of the Director. The National Center for Biotechnology Information (NCBI), part of the National Library of Medicine at NIH, will be responsible for developing the registry, which is expected to be available in 2011. GTR genetic test data will be integrated with information in other NIH/NCBI genetic, scientific, and medical databases to facilitate the research process. This integration will allow scientists to make, more easily and effectively, the kinds of connections that ultimately lead to discoveries and scientific advances.

During the development process, NIH will engage with stakeholders — such as genetic test developers, test kit manufacturers, health care providers, patients, and researchers — for their insights on the best way to collect and display test information. In addition, other federal agencies, including the Food and Drug Administration and the Centers for Medicare and Medicaid Services, will be consulted.

More information about the Genetic Testing Registry and NCBI is available at: http://www.ncbi.nlm.nih.gov/gtr/.

Source: NIH News

Impulsive-Antisocial Personality Traits Linked to a Hypersensitive Brain Reward System

March 15, 2010 | by

Normal individuals who scored high on a measure of impulsive/antisocial traits display a hypersensitive brain reward system, according to a brain imaging study by researchers at Vanderbilt University. The findings provide the first evidence of differences in the brain’s reward system that may underlie vulnerability to what’s typically referred to as psychopathy.

The study in the current issue of the journal Nature Neuroscience was funded by the National Institute on Drug Abuse (NIDA), a component of the National Institutes of Health.

Psychopathy is a personality disorder characterized by a combination of superficial charm, manipulative and antisocial behavior, sensation-seeking and impulsivity, blunted empathy and punishment sensitivity, and shallow emotional experiences. Psychopathy is a particularly robust predictor of criminal behavior and recidivism.

Since psychopathic individuals are at increased risk for developing substance use problems, the Vanderbilt team decided to investigate possible links between the brain’s reward system (activated by abused substances and natural reward), and a behavioral trait (impulsive/antisociality) characteristic of psychopathy. Researchers used two different technologies to measure the brain’s reward response.