July 29th, 2011 by MuinKhouryMDPhD in Opinion, Research
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Adverse drug events are a serious public health problem. Consider the following facts:
- an estimated 82% of American adults take at least one medication and 29% take five or more;
- 700,000 emergency department visits and 120,000 hospitalizations are due to adverse drug events annually;
- $3.5 billion is spent on extra medical costs of adverse drug events annually;
- at least 40% of costs associated with adverse drug events occurring outside hospitals can be prevented.
How can genomics help? Pharmacogenomics is the study of genetic variation as a factor in drug response, affecting both safety and effectiveness. The intended applications of pharmacogenomics research include identifying responders and non-responders to medications, avoiding adverse events, optimizing drug dose and avoiding unnecessary healthcare costs. The Food and Drug Administration has added pharmacogenomic information to the labeling for more than 70 drugs. Labels may include information on genetic determinants of clinical response or risk for adverse events.
In spite of current enthusiasm about pharmacogenomics in the research community, Read more »
*This blog post was originally published at Genomics and Health Impact Blog*
June 21st, 2011 by Harriet Hall, M.D. in Health Tips, Research
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Science has found no evidence that vaccines cause autism; but the true cause(s) of autism have not yet been determined. So far the available evidence has pointed towards a largely genetic cause with possible interaction with environmental factors. A new study supports that interpretation. It also supports previous evidence that autism is triggered prior to birth, rather than at the time of vaccinations.
Schmidt et al. published a study in Epidemiology on May 23, 2011, entitled “Prenatal Vitamins, One-carbon Metabolism Gene Variants, and Risk for Autism.” It was a population-based case control study of 566 subjects comparing a group of autistic children to a matched control group of children with normal development. They looked at maternal intake of prenatal vitamins in the 3 months before conception and the first month of pregnancy, and they looked for genotypes associated with autism. They found that mothers who didn’t take prenatal vitamins were at greater risk of having an autistic child, and certain genetic markers markedly increased the risk. There was a dose/response relationship: the more prenatal vitamins a woman took, the less likely she would have an autistic child. There was no association with other types of multivitamins, and no association with prenatal vitamin intake during months 2-9 of pregnancy.
They had a large sample size, and they tried to eliminate confounders. They looked for these potential confounders of the association between prenatal vitamin intake and autism: child’s sex, birth year, parent-reported race/ethnicity, family history of mental health conditions, paternal age at child’s birth, maternal age at child’s birth, education, prepregnancy body mass index (BMI) category, cereal intake from 3 months before through the first month of pregnancy, cigarette smoking, alcohol consumption, and residence with a smoker during the period 3 months before pregnancy to delivery. Only maternal education and the child’s year of birth proved to be confounders. They adjusted for these two factors in their analyses. A weakness of their study is that it depends on patient recall long after the fact. Also, it did not attempt to gather any diet information.
Mothers of children with autism were less likely to report taking prenatal vitamins (odds ratio 0.62). Having certain genotypes increased the odds that a vitamin-omitting woman would have an autistic child. Children with the COMT 472 AA gene were at increased risk of autism. If their mothers took prenatal vitamins, the odds ratio for the risk of autism was 1.8; if their mothers didn’t, the odds ratio jumped to 7.2. This suggests that the maternal-fetal environment can magnify the effects of a child susceptibility gene. There was an association with certain maternal genes as well: those odds ratios went as high as 4.5.
The association was robust. The authors think Read more »
*This blog post was originally published at Science-Based Medicine*
March 26th, 2011 by Berci in Research
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It’s a pleasure to share the great news that we just published our review in Trends in Molecular Medicine under the title, Gene expression profiles in peripheral blood for the diagnosis of autoimmune diseases. We looked at the literature and wrote about whether peripheral blood can be used for the diagnosis of autoimmune diseases or the prediction of the effectiveness of therapies. We also came up with a decision tree and a set of proposed guides in order to facilitate inter-disciplinary collaborations.
The paper is not publicly available, but if you are interested, I’d be happy to send it to you via e-mail.
Gene expression profiling in clinical genomics has yet to deliver robust and reliable approaches for developing diagnostics and contributing to personalized medicine. Owing to technological developments and the recent accumulation of expression profiles, it is a timely and relevant question whether peripheral blood gene expression profiling can be used routinely in clinical decision making. Here, we review the available gene expression profiling data of peripheral blood in autoimmune and chronic inflammatory diseases and suggest that peripheral blood mononuclear cells are suitable for descriptive and comparative gene expression analyses. A gene-disease interaction network in chronic inflammatory diseases, a general protocol for future studies and a decision tree for researchers are presented to facilitate standardization and adoption of this approach.
*This blog post was originally published at ScienceRoll*
March 15th, 2011 by American Journal of Neuroradiology in Better Health Network, Research
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Cavernous angiomas belong to a group of intracranial vascular malformations that are developmental malformations of the vascular bed. These congenital abnormal vascular connections frequently enlarge over time. The lesions can occur on a familial basis. Patients may be asymptomatic, although they often present with headaches, seizures, or small parenchymal hemorrhages.
In most patients, cavernous angiomas are solitary and asymptomatic. In recent times, increasing MRI has detected several such asymptomatic cases and has prompted a study into the genetics and natural history of this condition.
It is now known that cavernous angiomas have a genetic basis. Familial forms of cavernous angiomas are associated with a set of genes called CCM genes (cerebral cavernous angioma). This is a case report describing the phenotypic expression of a familial form of cavernous angioma.
CASE REPORT
A 54-year-old man was referred for an MRI of the brain with complaints of headache and seizures. A cranial CT scan revealed few hyperdense lesions. A subsequent cranial MRI scan revealed several lesions with features representing cavernous angiomas.
The patient was offered counseling and was treated conservatively. Genetic testing was not possible due to the high prohibitive cost. However, screening of the family members by MRI was recommended.
Cranial MRI of the immediate family members was performed. Four brothers of the patient and his mother were found to have multiple cavernous angiomas. The father, youngest brother, and his younger sister were found not to have any such lesion. Both children of the patient were also found to be free of these lesions. Incidentally, a meningioma was found in the father of the patient. Read more »
*This blog post was originally published at AJNR Blog*
February 24th, 2011 by Linda Burke-Galloway, M.D. in Health Tips, Research
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Birth defects, particularly those of the blood vessels, account for the majority of infant deaths, especially after the first week of life. Congenital heart disease (CHD) — meaning defects of the heart — is responsible for one-third of deaths between birth and the first year of life. Therefore, the diagnosis of CHD is critical in order to plan life-saving treatments, such as the proper place for the delivery, the type of delivery, and its timing. If it’s known in advance that an unborn baby has a heart problem and is delivered in a hospital that provides special care, its survival and future health will increase dramatically.
Who’s at risk for having CHD and which expectant moms should have further evaluation? Families who have a history of CHD — especially mothers, fathers, and siblings — should receive genetic counseling. Multiple medical studies over the past fifteen years have demonstrated the significance of genetics as a main culprit of CHD. Parents of a child with CHD have a two percent to three percent chance of having another affected child. If a mother or father has CHD, a fetal cardiac echo (an ultrasound of the heart) is definitely warranted.
Because the treatment of CHD in many cases is surgical, there’s an increasing number of patients who have survived into adulthood and have ultimately become parents. Research has documented that 4.1 percent of their children will have CHD. Children with mothers who have CHD are at a greater risk of inheriting the disease than if they have fathers with CHD. Mothers with cyanotic heart disease — that is, blood that is without oxygen that bypasses the lungs and goes directly to the blood vessels — also have a greater risk of having a baby with CHD. Read more »
*This blog post was originally published at Dr. Linda Burke-Galloway*
Adverse drug events are a serious public health problem. Consider the following facts:
