Identifying Potential Monogenic Genetics Referrals in Primary Care: Impact of Genetic Counselor Chart Review

Approximately 10% of individuals have a rare disease, many of which are genetic. These patients often see primary care physicians (PCPs) and could be referred for genetic assessment. Literature describes barriers to discussing genetics in primary-care, including PCP knowledge gaps. Genetic counselors (GCs) may address those gaps. To understand the proportion of patients with a potential monogenic condition in Mayo Clinic Florida Family Medicine, a GC reviewed the electronic medical record (EMR) and placed a prompt noting an "indicator," for possible genetics referrals on PCP schedules. Post-visit documentation was reviewed for PCP response. Descriptive statistics and Mann-Whitney U tests were performed. Thirteen PCPs participated, with 262 patients reviewed over 10 months. Eighty patients (30.5%) had an indicator, most commonly for a personal or family history of cancer (73.8%). Sixty-six (82.5%) patients with an indicator had a subsequent PCP visit and 42 (63.6%) lacked documentation acknowledging the indicator. Of the remaining 24 (36.4%), 11 (45.8%) were referred to genetics and 7 (29.2%) declined further evaluation. Overall, 4.2% (11) of the reviewed population had a genetics referral, which represents 16.7% of patients with an indicator who saw their PCP. The GC spent more time reviewing charts with indicators than charts without indicators (median [IQR], 10 [6-10] vs. 5 [4-8] minutes; Mann-Whitney U = 3859.5; p < 0.001). This study revealed patients who could benefit from genetic evaluation present in primary-care, but even with GC assistance to identify these patients via EMR review, many times PCPs do not document the potential genetic concern. A passive GC role may be insufficient, as fewer than half of indicators were acknowledged and only 16.7% resulted in referral. More active strategies, such as GC counseling within the primary-care clinic, and interventions addressing educational, structural, or time-based barriers, should be explored.