Imprecise information on significance of gene variants diminishes value of genetic panel testing

the ONA take:

Advances in technology provide people with the option of undergoing multigene testing, or panel testing, to determine their risk for developing various cancers.

However, an international consortium of authors caution clinicians about using these tests. Although the tests are helpful in identifying genetic mutations with the potential to increase a woman’s risk for breast and other cancers, clinicians need to be aware of, and share with patients, the limitations of test results.

Panel testing covers more than 100 genes, 21 of which are associated with breast cancer. Information about many genetic variants is lacking, and positive results may cause undue stress and anxiety over benign conditions.

In addition, patients may take significant or unnecessary risk-reducing interventions or screenings based on limited information.

The authors acknowledge that there is a significant body of evidence to support clinical action when some genetic variants are identified, such as BRCA1 and BRCA2 gene mutations; however, the implications of many other mutations are too imprecise and require further investigation.

They recommend that patients should be informed of the potential for uncertainty regarding the results.

Imprecise information on significance of gene variants diminishes value of genetic panel testing
Advances in technology provide people with the option of undergoing multigene testing determine their risk for developing cancer.
While advances in technology have made multigene testing, or "panel testing," for genetic mutations that increase the risk of breast or other cancers an option, authors of a review published today in the New England Journal of Medicine say larger studies are needed in order to provide reliable risk estimates for counseling these patients.
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