Enter Note Done


Keywords: Population genetics; Public health; Genetic testing; Electronic health records (EHRs)

G. Elhanan 1,2; W.J. Metcalf 1,2; H. Reed 1,2; B. Lipp 1,2; E. Smith 1,2; N. Washington 3; K. Dunaway 3; A. Boltz 3; C. Rowan 1; N. Slotnick 1; J. Lu 3; J.J. Grymski 1,2

1) Renown Institute of Health Innovation, Reno, NV; 2) Desert Research Institute, Reno, NV; 3) Helix Opco, LLC, San Carlos, CA

Population-based genetic screening can be a valuable screening tool for relatively common genetic risk conditions such as hereditary breast and ovarian cancer (HBOC). However, underlying the assumption that screening the general population is effective is the premise that the vast majority of screened individuals will take consistent and persistent recommended actions regarding positive findings, starting with reporting such findings to their healthcare providers.

We report here our early findings on the follow-up of genetic carrier status into the medical records of population-based genetic screening participants. As part of the Healthy Nevada Project (HNP) in Northern Nevada (Renown Health, Reno), 23,713 unselected participants underwent independent clinical exome sequencing from March 15 to Sept 30, 2018 (135 HBOC, 46 Lynch syndrome (LS), and 117 familial hypercholesterolemia (FH) carriers). Overall, 243 of the carriers had populated medical records with Renown and for 177 (78 HBOC, 33 LS, 66 FH) of carriers, genetic findings were delivered by qualified Renown physicians or outside genetic counselors. Medical record diagnoses were retrieved at a minimum period of three months after delivery of findings. Twenty-one of HBOC carriers had an appropriate diagnosis code (ICD9/10) documenting the genetic finding in their medical record and for 13 (18.6%), HNP testing was the precipitator of the documentation. Five of LS carriers had an appropriate ICD code, two (6.7%) of which were contributed due to HNP testing. Twelve of the FH patients had an appropriate ICD code, 10 of which were in response to HNP testing (15.6%).

Our results underscore the potential of population-based genetic screening for broader identifications of individuals at risk and likely under-represent the rate of provider notification by participants. However, the setting of the HNP in northern Nevada is unique, with Renown being the dominant primary care provider. Therefore, the low rate of diagnostic documentation in Renown’s medical records may have implications regarding the effectiveness of voluntary, independent population-based genetic screening, even for life threatening conditions. We plan to review these findings on a periodic basis and survey HNP participants for the actual rate and reasons for non-reporting of genetic findings. Such feedback is essential to maximize the value of independent population-based genetic screening as a preventive tool.