Sep 01, 2021 Issue
Hereditary Hemochromatosis: Rapid Evidence Review [Article]

Hereditary hemochromatosis is an autosomal recessive disorder that disrupts iron homeostasis, resulting in systemic iron overload. It is the most common inherited disorder among people of northern European ancestry. Despite the high prevalence of the gene mutation, there is a low and variable clinic...

Jul 01, 2021 Issue
Pharmacogenetic Gene-Drug Associations: FDA Perspective on What Physicians Need to Know [Editorials]

To share its perspective on the state of the science, the FDA has published a table of pharmacogenetic associations related to genetic variants that can affect drug concentrations, therapeutic responses, or adverse events.

Jul 01, 2021 Issue
GeneSight Psychotropic Genetic Testing for Psychiatric Medication Selection [Diagnostic Tests: What Physicians Need to Know]

The GeneSight test may assist in drug selection and dosing for individuals having difficulty finding an effective option or who have had intolerable adverse effects after trials of several drugs. However, because only a small population of patients are expected to have genetic phenotypes that would ...

Apr 15, 2020 Issue
Fetal Aneuploidy: Screening and Diagnostic Testing [Article]

The risk of fetal aneuploidy, the presence of one or more extra chromosomes or the absence of one or more chromosomes, rises with increasing maternal age. Because fetal aneuploidy can affect any pregnancy, all pregnant women should be offered screening. Screening can be done in the first or second trimester, or a combination of both. Because no screening test is diagnostic, patients with positive screening results should be referred for invasive diagnostic testing.

Feb 15, 2020 Issue
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Recommendation Statement [U.S. Preventive Services Task Force]

The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool.

Feb 15, 2020 Issue
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer [Putting Prevention into Practice]

A 31-year-old woman presents to your office for a well-woman examination. She is sexually active in a monogamous relationship and has never been pregnant. She tells you that her mother was diagnosed with tubal cancer at age 40 and that her sister, who is 42 years of age, was recently diagnosed with breast cancer.

Nov 1, 2019 Issue
Allopurinol Hypersensitivity Assay HLA-B*58:01 Genotyping [Diagnostic Tests: What Physicians Need to Know]

The allopurinol hypersensitivity assay, or HLA-B*58:01 test, is a blood test to detect the presence of a human leukocyte antigen B (HLA-B) genetic variant that increases the risk of life-threatening, severe cutaneous adverse reactions in patients taking allopurinol.

Jan 1, 2019 Issue
Inborn Errors of Metabolism: From Preconception to Adulthood [Article]

Inborn errors of metabolism (IEM) are genetic conditions that can be detected as early as preconception carrier screening. The IEM disorders can present at any time during life, but most are detected in newborns. Newborns presenting with the disorder require immediate consult with a metabolic specialist. Long-term treatments are effective for some IEM disorders.

May 15, 2018 Issue
A Woman with Multiple Joint Dislocations [Photo Quiz]

May 1, 2018 Issue
Clinical and Personal Utility of Genetic Risk Testing [Curbside Consultation]

On April 6, 2017, the U.S. Food and Drug Administration (FDA) approved marketing of the 23andMe Personal Genome Service, the first direct-to-consumer genetic test. This test uses genomic DNA collected from mail-in saliva collection kits to provide information on a patient's genetic risk of certain medical diseases or conditions.

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