UC Irvine

Genetic counseling plays an increasingly important role as genetic testing becomes more prevalent in healthcare. However, patients who have a personal or family history of genetic risk factors and would benefit from having a genetic evaluation are not always referred. These genetic risk factors that are overlooked can be considered missed indications for genetic counseling. A retrospective chart review was conducted on patients who were seen in the prenatal genetic counseling setting to determine the frequency of missed indications and assess if there are factors associated with a higher likelihood of having missed indications. The results of this study indicated that approximately a third (36%, n=105) of the patients seen had one or more missed indications present. Patients who preferred English and patients who were under the age of 35 were significantly more likely to have a missed indication found compared to patients who preferred a language other than English and patients who were age 35 or older. Of the missed indications found, excluding advanced maternal age (AMA), the most common indication was a family history of cancer followed by a family history of a Mendelian condition, and a family history of intellectual disability/autism. In comparison to previous studies, the frequency of missed indications remains similar. Ultimately, this study provides further insight on the ongoing need for continuing education for referring providers regarding indications for genetics referrals.