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.

Dec 15, 2017 Issue
Is "Precision Medicine" Ready to Use in Primary Care Practice? No: It Is Barely Ready for Testing [Editorials: Controversies in Family Medicine]

Precision medicine is ultimately only a tool, and just as it might be used to facilitate better outcomes, if adopted prematurely, it may paradoxically increase inappropriate care. Therefore, primary care physicians must wait for carefully conducted randomized studies to demonstrate benefits before embracing it.

Dec 15, 2017 Issue
Is "Precision Medicine" Ready to Use in Primary Care Practice? Yes: It Offers Patients More Individualized Ways of Managing Their Health [Editorials: Controversies in Family Medicine]

The question that primary care physicians should be considering is not whether precision medicine is ready for “prime time” in their practices. Rather, they should be considering how they will adjust their practice patterns to the changing landscape of medicine to maximize patient benefit while minimizing potential harms, including costs.

Jun 1, 2017 Issue
Expanded Newborn Screening: Information and Resources for the Family Physician [Article]

Each year, 4 to 5 million newborns receive state-mandated screening in an effort to detect and treat serious disorders before harmful effects can occur. Learn about the recommended screening tests and resources for determining the next steps if a newborn screening result is positive.

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