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Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed

By Joseph Grzymski, Gai Elhanan, Elizabeth Smith, Chris Rowan, Nicholas Slotnick, Shaun Dabe, Karen Schlauch, Robert Read, Jim Metcalf, Bruce Lipp, Harry Reed, Elissa Levin, Justin Kao, Misha Rashkin, Johnathan Bowes, Alexandre Bolze, Keith W Dunaway, Nicole Washington, Anthony Slonim, James T Lu

Posted 27 May 2019
bioRxiv DOI: 10.1101/650549

In an unselected population of 23,713 participants who underwent clinical exome sequencing as a part of the Healthy Nevada Project (HNP) in Northern Nevada (Renown Health, Reno, Nevada) from March 15, 2018, to Sept 30, 2018 (Table S1) we find a 1.26% carrier rate for expected pathogenic and likely pathogenic genetic variants in (FH: LDLR, PCSK9, APOB), Hereditary Breast and Ovarian Cancer (HBOC: BRCA1, BRCA2) and Lynch Syndrome (LS: MLH1, MSH2, MSH6, PSM2) with over 90% of carriers undetected under current medical practice. 26% of carriers were found to have advanced disease with 70% first diagnosed before the age of 65. Less than 20% of all carriers had any documented suspicion for inherited genetic disease in the medical record and upon direct follow-up survey under 40% of carriers had family history of relevant disease. A population preventative genetic screening approach for patients under 45 may improve outcomes.

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