Genetics

ACOG issues recommendations for prenatal genetic screening, diagnostic testing

ACOG issues recommendations for prenatal genetic screening, diagnostic testing

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Published practice bulletins offer guidance to clinicians on patient education during pregnancy.

Primary care clinician risk assessment for hereditary breast cancer

Primary care clinician risk assessment for hereditary breast cancer

Primary care clinicians should be proficient at assessing the potential for hereditary breast cancer risk in their patients.

Few women receive genetic counseling prior to BRCA test

Few women receive genetic counseling prior to BRCA test

Women who receive genetic counseling prior to undergoing BRCA testing display more knowledge of both the testing process and of the potential results.

Multigene tests can change breast, ovarian cancer management

Multigene tests can change breast, ovarian cancer management

For hereditary breast, ovarian cancer, multigene testing can influence clinical treatment options.

VNN1 gene may be potential biomarker for childhood asthma

VNN1 gene may be potential biomarker for childhood asthma

The activity of a gene called vanin-1 (VNN1) affected whether they were good or poor responders to corticosteroid treatment.

Researchers make headway on understanding body's response to allergies

Researchers make headway on understanding body's response to allergies

In the absence of Mbd2, dendritic cells display reduced phenotypic activation and a markedly impaired capacity to initiate immunity against helminthes or allergens.

Are shorter people at higher risk for developing coronary artery disease?

Are shorter people at higher risk for developing coronary artery disease?

There is a relative 13.5% increase in coronary artery disease risk for every 2.5 inches shaved off a person's height.

First neonatal SCID screening test approved by FDA

First neonatal SCID screening test approved by FDA

The Food and Drug Administration (FDA) has granted marketing of the EnLite Neonatal TREC Kit, the first FDA-cleared test to screen for severe combined immunodeficiency (SCID) in newborns.

Provide counseling to family after infant tests positive for sickle cell trait

Provide counseling to family after infant tests positive for sickle cell trait

Primary-care providers should offer educational materials and genetic counseling to families of newborns with positive results for sickle cell trait.

Genetically low vitamin D levels may increase early death risk

Genetically low vitamin D levels may increase early death risk

Gene variants linked to vitamin levels didn't affect cardiovascular-related mortality.

Genetic factors affect impact of exercise on type 2 diabetes risk

Genetic factors affect impact of exercise on type 2 diabetes risk

Exercise does not provide its usual benefit against diabetes in patients with high genetic risk for developing type 2 diabetes and insulin resistance.

Genomic test differentiates between psoriasis, eczema

Genomic test differentiates between psoriasis, eczema

The test identified whether all patients in the study had either dermatologic condition correctly.

Drinking less alcohol benefits heart health

Drinking less alcohol benefits heart health

Patients with the rs1229984 gene variant tended to drink less and had healthier hearts.

AP1S3 mutations associated with psoriasis

AP1S3 mutations associated with psoriasis

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AP1S3 variants were present in a significant number of patients with acrodermatitis continua of Hallopeau.

Rare gene linked to type 2 diabetes in Hispanics

Rare gene linked to type 2 diabetes in Hispanics

The p.E508K mutation, found only in Hispanic patients, is associated with increased prevalence of type 2 diabetes.

What to know about home genetic-test kits

What to know about home genetic-test kits

Consumers becoming more involved in do-it-yourself genetic testing need primary-care clinicians to put the results into context for them.

PIM1 gene ID'd as potential therapeutic target in psoriasis

PIM1 gene ID'd as potential therapeutic target in psoriasis

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Researchers are beginning to unravel the functional significance of key gene variants in psoriasis.

New genetic targets IDed for HCV treatment

New genetic targets IDed for HCV treatment

DNA changes on the IFNL3 gene have been associated with better treatment responses and natural ability to clear infection among patients with hepatitis C infection.

Genetics may influence weight gain from fried food

Genetics may influence weight gain from fried food

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Individuals with a greater genetic predisposition to adiposity may be more susceptible to adverse outcomes from fried food consumption.

Genetics may play role in childhood obesity

Genetics may play role in childhood obesity

Genetics may influence how infants respond to food and subsequent obesity risk.

Gene boosts heart risk in type 2 diabetes

Gene boosts heart risk in type 2 diabetes

A variant of a gene associated with glutamic acid metabolism increases heart disease risk in patients with diabetes.

Eating disorders, alcoholism genetically linked

Eating disorders, alcoholism genetically linked

Genes may contribute 38% to 53% of the risk of developing those disorders, researchers estimate.

Common etiology ID'd for autism, schizophrenia, bipolar disorder

Common etiology ID'd for autism, schizophrenia, bipolar disorder

Having a first-degree relative with schizophrenia or bipolar disorder increases risk for autism spectrum disorders.

A sibling's stroke hikes risk

A sibling's stroke hikes risk

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A patient whose brother or sister has had a stroke could be up to 94% more likely to suffer the same fate than a person with stroke-free siblings.

Pros and cons of home genetic testing

Pros and cons of home genetic testing

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Is it a good thing or a bad thing when laypeople are able to order their own genetic profiles and interpret their own results?

Studies confirm genetic complexity of autism

Studies confirm genetic complexity of autism

Exome sequencing used to describe "de novo" genetic mutations and their role in ASD risk reveal that few mutations occur in the same genes and few participants experienced the same changes.

A routine check-up 
reveals a significant 
genetic abnormality

A routine check-up 
reveals a significant 
genetic abnormality

A corrections officer came into the primary care office for a routine physical and left with an unexpected diagnosis.

ASH: Gene therapy promising for hemophilia B

ASH: Gene therapy promising for hemophilia B

Therapy with virus vector expressing factor IX transgene prevented spontaneous bleeding in patients with hemophilia B.

Sibling's status may help predict autism risk

Autism recurrence rates are higher than previously estimated for younger siblings of children with an autism spectrum disorder.

Taller women at greater risk for cancer

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Taller women are at greater overall risk for cancer than those who are shorter, but the degree of risk varies depending on the type of cancer.

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