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News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… discovered every day, IGVF researchers are developing and testing various model systems and techniques — and using a … called beta cells. Beta cells make insulin to help convert sugar in the blood to an energy source for the body. In people with …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a person’s genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… personalized medicine).   … What is pharmacogenomic testing? Studies indicate that more than 98% of people may … the patient’s DNA obtained from a saliva sample, a blood sample or a cheek swab. Based on the results, the … slows this transport, causing the drug to build up in the blood and leading to pain and muscle weakness. Healthcare …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… the islets fail to produce sufficient insulin to control blood sugar, which is why understanding the basic biology of … much sugar circulating in the bloodstream. Prolonged high blood sugar levels can lead to heart disease, kidney disease …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… diagnosed with the disorder already and whether genetic testing has been performed in other relatives). In some … patients with IEM may include elevated acid levels in the blood, low blood sugar, high blood ammonia, abnormal liver function tests, and …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… are working. What are we not trying to do? We are not testing any new medication or procedure to treat or cure MMA. … parameters, such as MMA and/or homocysteine levels in the blood and/or urine, and clinical history. Dr. Venditti will … collection to examine for methylmalonic acid, other acids, sugar and proteins to measure kidney function. Blood tests to …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… K. Kawai, MD, MPH … … Direct-to-Consumer Pharmacogenomic Testing Educates healthcare professionals towards a better … and limitations of direct-to-consumer pharmacogenomic testing, when to pursue confirmatory clinical testing, and how to interpret pharmacogenomic test results …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… 90,000 samples of maternal plasma, the liquid portion of blood after all cells have been removed. Of these samples, …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… participating in genetics research or undergoing genetic testing will lead to being discriminated against based on … individuals or their family members to undergo genetic testing or to provide genetic information. As defined in the … that collect employees' biometric data (e.g. weight, blood pressure, cholesterol levels) and use this information …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… - 12:55 p.m. Non-healthcare employer offering genetic testing Jane Gilbert (Teachers' Retirement System of … projects to deploy genetic tests and a genetics-based testing program within employer populations and measure and …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
… these participants and an order in CRIS for confirmation testing.  Ordering a new DNA sample We will ask a member of … as the source of a new DNA sample, in rare instances a blood sample or previously isolated DNA can be accepted. … 2. The new sample was processed in a CLIA certified lab.  Blood will only be accepted if the participant cannot …