Somatic Testing and Germline Genetic Status: Implications for Cancer Treatment Decisions and Genetic Counseling


Purpose of Review

We review recent precision oncology literature pertaining to the implications of germline and somatic genetic information in cancer treatment. The goal of this work is to provide a practical resource for oncology practitioners and genetic providers and discuss practice considerations for those on the frontline of precision oncology.

Recent Findings

Understanding germline and somatic tumor alterations, patients can be matched to targeted therapy options attacking the specific genetic makeup of that tumor. This information informs treatment decisions about which therapies the cancer is likely to respond to and which treatment options should be avoided. Timely access to germline and somatic genetic testing is critical to ensure that patients have this information for treatment planning, both at diagnosis and through later lines of therapy.


The hope of precision oncology is here although significant challenges remain for implementation for routine cancer care.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Correspondence to Kelli Swan.

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Mrs. Dougherty (Chatham), MS, CGC, reports personal fees from Myriad Genetics, outside the submitted work. And declares that she is a stockholder of Myriad Genetics.

Mrs. Swan reports personal fees from Myriad Genetics, personal fees from Guardant Health, and personal fees from PerkinElmer Genomics, outside the submitted work; and declares that she is a stockholder of Myriad Genetics and Guardant Health. And stock in PerkinElmer.

Mrs. Wienke reports personal fees from Guardant Health, and personal fees from Ambry Genetics, outside the submitted work; and declares that she is a stockholder in Guardant Health.

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Swan, K., Dougherty, K.C. & Myers, S.W. Somatic Testing and Germline Genetic Status: Implications for Cancer Treatment Decisions and Genetic Counseling. Curr Genet Med Rep 8, 109–119 (2020).

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  • Targeted therapy
  • Germline
  • Somatic
  • PARP inhibitor
  • Immunotherapy
  • Genetic counseling