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Many individuals who undergo direct-to-consumer personal genomic testing do not share the results with their primary care provider

Many Do Not Share Personal Genetic Testing Results With PCP

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Reasons for not sharing include that the results are not important enough, lack of time
New mutations have been identified with next-generation sequencing in refractory anemia with ring sideroblasts and thrombocytosis

New Mutations Help Predict Survival in RARS-T

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Mutations help classify risk in refractory anemia with ring sideroblasts and thrombocytosis
Type 2 diabetes-related genetic variants predict all-cause mortality

T2DM-Related Genetic Variants Predict All-Cause Mortality

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Higher genetic risk linked to increased mortality risk, especially among obese non-Hispanic whites
Among young women with breast cancer

Rates of BRCA Mutation Testing Increasing in Young Women

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Among young women diagnosed with breast cancer, frequency of testing >95 percent in 2013
Five genes may serve as biomarkers for osteoarthritis progression

Five Genes Tied to Osteoarthritis Progression

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Findings are potential biomarkers of osteoarthritic acetabular labrum
A novel Borrelia burgdorferi sensu lato genospecies has been identified

Novel Borrelia burgdorferi Sensu Lato Genospecies ID’d

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Species causes Lyme borreliosis in the United States; identified in six patients since 2012
Vibratory urticaria is associated with a missense substitution in ADGRE2

Vibratory Urticaria Linked to Missense Mutation in ADGRE2

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Destabilizes an autoinhibitory subunit interaction, resulting in mast cell sensitization to degranulation
Researchers say they're closer to developing a blood test that distinguishes between viral and bacterial respiratory infections. The findings are published in the Jan. 20 issue of Science Translational Medicine.

Blood Test May Help Guide Appropriateness of Antibiotic Rx

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Still in development, but doctors' office screening method could curb overprescribing
Colon tumors that don't produce the protein CDX2 are more likely to recur following surgical removal in patients with stage II colon cancer

CDX2-Negative Colon Cancer May Need More Tx Post Surgery

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Patients with CDX2-negative tumors more likely to benefit from chemo in addition to surgery
For a small number of women with a rare form of infertility

Mutations in TUBB8 Linked to Form of Female Infertility

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Screening could spare these women unnecessary treatment, researchers say