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The U.S. Preventive Services Task Force (USPSTF) recommends screening for women at increased risk for carrying a BRCA1/2 mutation as well as genetic counseling and testing as indicated for those screening positive. These recommendations form the basis of a draft recommendation statement published online Feb. 19 by the USPSTF.

USPSTF Says Screen Women With Higher Risk for BRCA Mutations

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Those with positive results should be provided with genetic counseling, testing if indicated
An improved type 1 diabetes (T1D) genetic risk score (GRS)

Improved Genetic Risk Score Aids Type 1 Diabetes Classification

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Revised risk score also improves newborn screening versus HLA genotyping alone
Objectively assessed physical activity is associated with a protective relationship with major depressive disorder

Objectively Assessed Exercise Protective Against Depression

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Objectively assessed, but not self-reported, physical activity protects against major depressive disorder
Among breast cancer patients

Breast Cancer Patients Do Not Overreact to Genetic Testing

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No increased cancer worry for multigene panel testing versus BRCA1/2-only test after cancer diagnosis
HFE p.C282Y homozygosity

Hemochromatosis Mutation Linked to Other Morbidity

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Higher rates of at least one incident-linked condition seen in men, women with HFE p.C282Y homozygosity
The influence of heritability and environmental factors has been identified for a large number of phenotypes

Study Explores Influence of Genetics, Environment in Disease

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Genetic component for 40 percent of phenotypes studied; 25 percent have environmental risk factors
Newborn genomic sequencing can detect the risk for disease onset during childhood and actionable adult-onset disease

Newborn Genomic Sequencing Can Identify Disease Risk

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Sequencing detects risk for disorders not anticipated based on infants' known clinical, family history
Three novel loci have been identified for polycystic ovary syndrome

Three Novel Loci Associated With Polycystic Ovary Syndrome ID’d

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Genetic links with obesity, T2DM, lipids suggest shared genetic architecture for PCOS, metabolic traits
Genes are responsible for approximately one in 10 cases of chronic kidney disease in adults

Exome Sequencing Provides Genetic Diagnosis for Some With CKD

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Genetic diagnosis for 9.3 percent of 3,315 patients with chronic kidney disease from two cohorts
Medical science has made tremendous advances in personalized medicine. However

Many Americans Unaware of Promise of Personalized Medicine

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41 percent are not at all familiar with personalized medicine; only 5 percent say they are very familiar