By Meyers L, Swope, B, Weissman SM, Bailey J, Fan A, Fine CA, Jordan E, LeLuyer B, Rope AF, Bleyl SB
Proactive genomic screening is increasingly being explored by reportedly healthy individuals. Since proactive screening is not guided by clinical history, many genes associated with hereditary forms of disease may be missed. Because of the limitations associated with healthy genome screening, we evaluated the percentage of patients who ordered healthy whole genome sequencing to determine how many people that pursue this testing would qualify for indication based diagnostic testing. Patients who participated in consumer directed, proactive genome sequencing were found to have a high risk personal or family history warranting consideration of diagnostic testing 13.8% of the time. Of these high risk individuals, there was very low uptake of pre-test genetic counseling (1.2%) services offered at no additional cost.