Dedicated to the acceptance, medical treatment, & legal protection of individuals in the process of correcting the misalignment of their anatomical sex, & supporting their transition into society.
Springfield, VA, USA. The American Psychiatric Association (APA) publishes the Manual for Diagnosis of Mental Disorders (DSM-IV) in 1994.
DSM-IV is the desktop reference used most often by physicians and o...
Baltimore, MD, USA. There is enduring interest in how infants and young children perceive themselves and their surrounding world, then perform complex reasoning tasks to make sense of it all (or at least the hi...
San Diego, CA, USA. There have been intermittent claims for the genetic basis of specific behaviors, such as anger and heterosexuality. These efforts have been overtaken by events, most prominently by an ...
Nashville, TN, USA. When you and another person see one another, how each of you unleash your imagination may actually influence how you see the world.
Research has found that mental imagery — wh...
Tampere, Finland. Delivering what may prove to be a decided mixed blessing to post-op women (and others) everywhere, researchers have shown that having intercourse more often may help prevent the development o...
Washington, DC, USA. General anesthesia puts patients into unconscious sleep so they do not feel surgical pain, but researchers say it can increase their discomfort once they wake up.
The findings pr...
Edmunton, Alberta, Canada. Does emotional wisdom come with age? Researchers identified brain patterns that help healthy people over the age of 60 regulate and control emotion better than younger counterpa...
Malaga, Andalucia, Spain. There has been relatively little systematic study of the effects of long-term cross-sex hormone therapy in male-to-female (M2F) and female-to-male (F2M) transsexuals [cf. sidebar]. No...
Santa Monica, CA, USA. Heredity has effects on health. Humans have known that for millennia. However, the actual mechanisms involved have remained elusive, with basic knowledge starting to accumulate only in recent times. The contribution of Gregor Mendel (1822-1884) made his seminal contributions occurred less than 150 years ago. Archibald E. Garrod (1857-1936) began the application of this knowledge to human health only at the start of the past century.
For most of the 20th century, many medical practitioners viewed genetics as an esoteric academic specialty, but that view is now hopelessly outdated. A new study by researchers from the US Department of Veterans Affairs (VA) and the RAND Corporation reinforces our understanding of this situation.
Delivery of Genomic Medicine for Common Chronic Adult Diseases: A Systematic Review. Scheuner MT, Sieverding P, Shekelle PG. JAMA. 2008;299(11):1320-1334.
If genetics has been misunderstood, genomics is even more mysterious, with limited appreciation of the differences. Genetics is the study of single genes and their effects. Genomics is a term coined within the past 15 years to signify study of the functions and interactions of all the genes in the genome. As a result, genomics has a broader and more ambitious reach than does now-classical genetics.
Genomics has quickly emerged as the central basic science of biomedical research and is poised for a similar role in clinical medicine. The underlying science of genomics rests on direct experimental access to the entire genome and applies to common conditions and disorders, typically influenced by the interactions of multiple genes and environmental factors. They are thus known as multifactorial disorders.
Each person's genome is unique — except for monozygotic (genetically identical) twins. All physicians will soon need to understand the concept of genetic variability, its interactions with the environment, and its implications for patient care. With the sequencing of the human genome complete, the practice of medicine has entered an era in which the individual patient's genome will help determine the optimal approach to care (preventive, diagnostic, or therapeutic).
During a conference of health care researchers, Dr. Maren T. Scheuner said "There has been a big shift in the practice of genomic medicine. When genes are discovered, this translates very quickly into the availability of genetic tests." Scheuner is with the RAND Corporation. "Fifteen years ago, there were 100 genes for which tests were available. Today, there are about 1,500 of these genes. Things are really moving rapidly."
Advances in genomic medicine for common birth conditions and adult chronic diseases (such as heart disease, diabetes, and cancer) hold promise for improved prevention, diagnosis and treatment. Specific genetic variations may have a protective or a pathologic role in the expression of diseases. However, health professionals and the public are not prepared to effectively integrate these new tools into practice.
Genomic medicine uses family medical history and genetic information to identify people who are likely to acquire common diseases. Despite its potential, little has been done to make genomic medicine available within community healthcare settings. Physicians and patients are optimistic about the health benefits that genetic testing might provide, but neither group is well informed about genetics and there are likely too few experts available to meet growing demands for genetic testing, according to the study.
"The greatest public health benefit of advances in understanding the human genome will likely occur as genomic medicine expands from its focus from rare genetic disorders to inclusion of more common chronic diseases, such as coronary heart disease, stroke, diabetes mellitus, and cancer," the authors provide as background information in the article. "With genomics discoveries relating to common chronic diseases, numerous genetic tests may emerge that hold promise for significant changes in the delivery of health care, particularly in preventive medicine and in tailoring drug treatment."
Researchers say the findings demonstrate a need for a large-scale effort to educate both health professionals and the public about genomic medicine, and to develop and evaluate new ways to deliver genetic services.
Researchers from RAND and the VA reviewed all studies published from January 2000 to February 2008 about the delivery of genomic medicine for common chronic diseases. The authors synthesized the findings from 68 relevant studies to develop a picture of the status of the delivery of genomic medicine in developed countries to diagnose, prevent and treat common chronic adult illnesses.
The studies consistently found that primary care physicians feel "woefully underprepared" to integrate genetics into their practice. This includes having neither the time nor the skill necessary to obtain and interpret family histories that might detect disease patterns that merit a referral for genetic testing or specialty consultation.
"Primary care clinicians are on the front lines of patient care and they are going to need to be prepared to incorporate genetics into their practices," Scheuner said. "Training and educating the healthcare workforce about the role of genetics in their clinical practice and increasing the size of the genetics specialty workforce are potential solutions to barriers we identified."
While consumers report having unclear notions about the value of genetic testing for common chronic diseases, they were interested in the prospect that the tests might help identify those people who are at greater risk for chronic illnesses that are preventable.
However, consumers are worried about the prospect of adverse consequences to genetic testing — particularly loss of privacy and discrimination by health insurers or employers among those found to be predisposed to disease, according to the study. Despite this concern, researchers found there have been no well-documented cases of health insurers asking for or using presymptomatic genetic test results to define eligibility for coverage.
Researchers also found little research describing health outcomes associated with genetic testing for common chronic diseases. Most of the research to date has focused on patients' well-being after genetic testing, not on whether the testing prevented disease, changed treatment or extended lives. Well-designed studies that evaluate impacts on death and illness will be necessary to estimate the value that genetic tests add to health services delivery.
Researchers also found that scant research has been done to determine what might be the best system for providing genetic services for chronic adult illnesses. For example, several studies in the United Kingdom found that incorporating a nurse geneticist into a primary care practice resulted in high patient satisfaction and lower costs. Fewer people required referral to a genetics specialist. But more research is needed about both the organization and the cost of systems to expand use of genetic medicine, according to the researchers.
The current study outlines several promising electronic tools that may offer benefits, including genetic consultation done via videoconference, disclosing genetic test results via telephone, and imbedding clinical support tools for physicians in electronic health records.
Researchers also found that most medical geneticists believe that there are too few trained specialists to adequately provide genetic services and that most directors of genetic laboratories support creation of more rigorous national standards for genetic tests to ensure quality of such testing.
Delivery of Genomic Medicine for Common Chronic Adult Diseases: A Systematic Review. Scheuner MT, Sieverding P, Shekelle PG. JAMA. 2008;299(11):1320-1334.
Abstract
Context. The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation.
Objective. To synthesize current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery, and challenges in integrating these services.
Data Sources. MEDLINE articles published between January 2000 and February 2008.
Study Selection. Original research articles and systematic reviews dealing with common chronic adult-onset conditions were reviewed. A total of 3371 citations were reviewed, 170 articles retrieved, and 68 articles included in the analysis.
Data Extraction. Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and 4 key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine, and challenges and barriers to integration of genomic medicine.
Data Synthesis. Sixty-eight articles contributed data to the synthesis: 5 systematic reviews, 8 experimental studies, 35 surveys, 7 pre/post studies, 3 observational studies, and 10 qualitative reports. Three systematic reviews, 4 experimental studies, and 9 additional studies reported on outcomes of genetic services. Generally there were modest positive effects on psychological outcomes such as worry and anxiety, behavioral outcomes have shown mixed results, and clinical outcomes were less well studied. One systematic review, 1 randomized controlled trial, and 14 other studies assessed consumer information needs and found in general that genetics knowledge was reported to be low but that attitudes were generally positive. Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer models of delivery. One systematic review and 19 other studies assessed barriers; the most consistent finding was the self-assessed inadequacy of the primary care workforce to deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination.
Conclusions. Many gaps in knowledge about organization, clinician, and patient needs must be filled to translate basic and clinical science advances in genomics of common chronic diseases into practice.
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Robot Violinist. A robot plays Pomp and Circumstance on the violin. The robot used its mechanical fingers to push the strings and bowed with its other arm.
The 152 cm (five foot) performer can perform a variety of tasks with its hands and arms, each of which has 17 joints.
Using precise control and coordination to achieve human-like agility, the robot could also be used to assist with domestic duties or nursing and medical care.
During a conference of health care researchers, Dr. Maren T. Scheuner said "There has been a big shift in the practice of genomic medicine. When genes are discovered, this translates very quickly into the availability of genetic tests." Scheuner is with the RAND Corporation. "Fifteen years ago, there were 100 genes for which tests were available. Today, there are about 1,500 of these genes. Things are really moving rapidly." 
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