Most people are comfortable receiving negative genomic screening results by mail, according to a recent survey of 1,442 participants.1 Twenty-eight percent asked some questions about their results, and 18% would have wanted to receive results in person instead.

“While there are many advantages to allowing people to access their genetic testing results directly, many results will be difficult to interpret without the proper expertise and context,” says Esther Knapp, MD, MBE, an assistant professor of pediatrics at the University of Louisville (KY).

Genomic screening is much more nuanced than simply “normal” vs. “abnormal.”

“We, as a medical and scientific community, are still learning much about genetic variants and their clinical significance,” Knapp reports.

The significance of genetic testing results also should be considered in relationship to a patient’s medical history and family history. “The dissemination of test results from a third party or via mail can lead to incomplete understanding on the part of the patient, misinterpretation, or failure to appreciate the implications (or lack thereof) of the results,” Knapp cautions.

For example, a person may mistakenly assume a variant of unknown significance in a cancer predisposition gene means he or she is at higher risk for cancer. In fact, there might be no evidence to support this.

A person receiving results of genomic screening should ask questions of a qualified professional, such as a geneticist or a genetic counselor. “It sets a dangerous precedent to give people incomplete information, however well-intentioned,” Knapp says.

REFERENCE

  1. Stuttgen K, Pacyna J, Beck A, et al. Patient reactions to receiving negative genomic screening results by mail. Genet Med 2020; Jul 16. doi: 10.1038/s41436-020-0906-2. [Online ahead of print].