Genetic Risk Assessment

Germline vs Somatic Testing

We are abstracting information regarding germline, or genetic testing.

Germline (genetic) testing is a type of DNA testing that looks for inherited mutations that are present in every cell of the body and have been present since birth. This is also called genetic testing. Germline genetic testing can be done via cheek swab, spit sample or a blood draw. This type of genetic testing looks for germline mutations, or inherited predispositions to certain types of cancers.

• Labs such as Myriad, Ambry Genetics, Invitae, Counsyl, GeneDx, and Color Genomics offer germline testing and these are good search terms to use.
• A blood or saliva sample likely indicates germline or genetic testing, as these tests analyze DNA from non-cancerous cells that represent the entire body’s genetic makeup. Look for terms such as “hereditary”, “genetic”, and “germline”. 
• Labs such as Ambry Genetics, Invitae, Myriad, GeneDx and Color Genomics offer germline testing.
• Examples of germiline testing:
  • Ambry
  • Invitae
  • Myriad-myRisk

Somatic (genomic) testing is done on tumor tissue itself and tests the tissue sample for acquired mutations in a confined set of cells or tissue. Somatic testing is also known as tumor testing or tumor sequencing (ie: NGS panel, whole exome sequencing (WES), liquid biopsy) and can identify actionable mutations in a tumor that will respond to specific anticancer drugs. 

• Labs such as Caris, Guardant, Tempus, Foundation One, and Biodesix perform genomic testing which tests the tumor itself for actionable mutations such as EGFR, ALK, pT53, etc
• To determine if a genetic test was somatic or germline, look at the sample type used.  If the test was done on a tumor tissue sample from a biopsy or surgery or is labeled “liquid biopsy”, it is likely a somatic test result. Also look for terms such as “genomic alterations”, “genomic variants” and/or “biomarkers”.  Somatic testing often includes information on FDA Approved Therapies for any identified genomic alteration.
• If somatic testing is the only testing found, do not check the box indicating that the patient had genetic testing. Only check this box if you find that germline testing was performed.

• There must be documentation of the presence or absence of cancer in ALL 1st degree relatives
• Examples of complete family history

• There must be documentation of the presence or absence of cancer in ALL 2nd degree relatives

• If the age at diagnosis is documented for each relative who is noted to have a history of cancer, choose the answer option “Yes” for this question. An approximate age is acceptable. If it is documented that the age at diagnosis is unknown, this is also acceptable.
• If the age at diagnosis is missing for any relative, choose the answer option “No” for this question.
• If it is documented that the patient has no family history of cancer choose the answer option “No blood relatives noted with cancer”
• If this patient is unaware of their family history, choose the option “Requested but unknown by family”

• Select all pathogenic variants identified
• If variants of unknown/uncertain significance are identified, choose “Variant of uncertain significance”
• If pathogenic variants are identified that are not listed, select “Other (specify)” and enter the variant(s) into the free text box.
• See the examples of germline testing linked above in the Genetic Risk Assessment section.