Skip to main content
Premium Trial:

Request an Annual Quote

Certain Circumstances

The US Preventive Services Task Force has updated its recommendations for assessing and testing BRCA1 and BRCA2 mutations for breast and ovarian cancer susceptibility. As the task force's chair, Virginia Moyer, writes in the Annals of Internal Medicine, routine genetic screening in the absence of family history of the disease is not warranted.

In general, about 12.3 percent of women with develop breast cancer during their lives and 1.4 percent of women develop ovarian cancer. The prevalence of harmful BRCA mutations is estimated to be between 0.2 percent and 0.3 percent in the general population, though it is higher in women who develop cancer before the age of 40 and in women with Ashkenazi Jewish ancestry.

The task force examined some 18 studies that were published since its last assessment in 2005 that weighed the benefits and harms of testing.

For women with a family history that indicates an increased risk of having harmful BRCA1 or BRCA2 mutations, the USPSTF says that the net benefit of testing, detection, and early intervention is moderate. At the same time, it says that the net benefit of testing, detection, and early intervention for women without that family history ranges from minimal to potentially harmful.

"We have great hope in the science of genomics to improve screening practices and even prevent some cancers," Moyer said in a statement. "At this point, the evidence shows that most American women will not benefit from genetic counseling or the test for gene mutations in BRCA1 and BRCA2.”

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.