Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.

Bowles KR1, Mancini-DiNardo D1, Coffee B1, Cox HC1, Qian Y1, Elias M1, Singh N1, Judkins T1, Leclair B1, Roa BB1.

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Abstract

Expanded genetic test utilization to guide cancer management has driven the development of larger gene panels and greater diversity in the patient population pursuing testing, resulting in increased identification of atypical or technically challenging genetic findings. To ensure appropriate patient care, it is critical that genetic tests adequately identify and characterize these findings. We describe genetic testing challenges frequently encountered by our laboratory and the methodologies we employ to improve test accuracy for the identification and characterization of atypical genetic findings. While these findings may be individually rare, 15,745 (9%) individuals tested by our laboratory for hereditary cancer risk had an atypical genetic finding, highlighting the importance of employing highly accurate and comprehensive methods in clinical genetic testing.