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Use it Well

The European Society of Human Genetics has issued guidelines for the use of genome sequencing in healthcare. The recommendations, published in the European Journal of Human Genetics, focus on unsolicited findings and informed consent as well as on the interpretation of genetic findings.

The society recommends targeted sequencing and filtering of results to limit the analysis to specific genes and to genes whose variants can be readily interpreted. "It is preferable to use sequencing or analysis specifically targeted at a particular health problem to avoid unsolicited findings, or those that cannot yet be interpreted, which can cause considerable anxiety to patients and their families," says Martina Cornel, the chair of ESHG's professional and public policy committee, in a statement.

The recommendations also highlight the need for genetic education for doctors and lay people, as well as for collaborations to enable better interpretation of genetic data.

"Whole-genome sequencing has given the scientific community the ability to look at all of a person's genetic information. Given this new ability, we now need to interpret this information and counsel the family on the significance — both expected and unexpected," Debra Han, a genetic counselor in California, tells Medscape Medical News. "Overall, we need to remember, 'first, do no harm,'"