Genetic Testing Eligibility Module

When genetic eligbility testing is desired to be offered as a service, the Medical Risk factors screen and patient surveys can be expanded to collect; Colon, Endometrial, Pancreatic, Prostate and NNN breast cancer, for patient and relatives. The collection of these additional cancer types can often qualify the patient and relatives for genetic testing based on various models options incorporated such as; NCCN, NCCN expanded, Medicare, and others. As data is entered, the genetic assessment engine automatically profiles the patient and relative’s cancer type history. When set points are achieved, the Genetic Testing Eligible indicator is activated.

The eligiblity indicator is displayed on the Patient Medical and Risk screen, and PreExam and Approve screens for Radiologist. The eligiblity calculator offers the option to automatically insert phrases in narrative report and patient exam letter, similar to the options available for Tyrer-Cuzick and BCRA breast cancer values.

PenTips #188 - Genetic Testing Eligibility

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Breast and Ovarian cancer and BRCA gene relatives factored into Tyrer Cuzick v7.2 and v8:

  • Father / Brother / Mother / Sister / Daughter
  • Maternal / Paternal Grandmother
  • Maternal / Paternal Aunt
  • Maternal / Paternal Half Sister
  • Maternal / Paternal Uncle Female Cousin
  • Maternal / Paternal Aunt Female Cousin
  • Niece Brother / Niece Sister

Breast cancer relatives factored into BCRA calculator:

  • Mother / Sister / Daughter

GENETIC TESTING FORMALS FOR PRESELECT MODEL 1, 2, 3 and 4

  • BRCA related Breast and/or Ovarian cancer syndrome
  • NOTE: Close relatives are defined as 1st, 2nd, and 3rd degree relatives.
  • NOTE: In certain cases close relatives defined as being on same side of family.
    • This is where criteria includes “2 or more close relatives”.
    • In these cases we independently check maternal and paternal relatives to match criteria.

MODEL 1 NCCN BRCA testing only criteria from page 11 NCCN Guidelines Version 2.2.017

This model preselects “Consider genetic consultation” selector, when one or more combinations exist.

  1. Patient has any relative with BRCA gene marker
  2. Patient has had breast cancer age <= 45
  3. Patient has had breast cancer <= age 50 AND one or more:
    >= 1 close relative with breast cancer at any age
    >= 1 close relative with pancreatic cancer at any age
    >= 1 relative with prostate cancer at any age
    Patient has had 2nd breast cancer*
    Patient has unknown or limited family history (family history of breast cancer unknown selected)
  4. Patient has had breast cancer and triple negative cancer <= age 60
  5. Patient has had breast cancer AND one or more:
    >= 2 close relatives with breast, pancreatic, or prostate cancer at any age on same side of family
    >= 1 close relative with breast cancer <= age 50
    >= 1 close relative with ovarian cancer at any age
    >= 1 Male relative with breast cancer at any age
    Ashkenazi ethnicity
  6. Patient has history of ovarian cancer at any age
  7. Patient has male breast cancer at any age
  8. Patient has prostate cancer AND one or more:
    >= 1 close relative with ovarian cancer at any age
    >= 1 close relative with breast cancer <= age 50
    >= 2 close relatives with breast, pancreatic, or prostate cancer at any age on same side of family
  9. Patient has pancreatic cancer at any age AND one or more:
    >= 1 close relative with ovarian cancer at any age
    >= 1 close relative with breast cancer <= age 50
    >= 2 close relatives with breast, pancreatic, or prostate cancer at any age on same side of family
  10. Patient is Ashkenazi and has had pancreatic cancer at any age
    * (checks bilateral, unilateral and NNN different age, and pathology records)

MODEL 2 (MEDICARE CRITERIA) from www.facingourrisk.org and www.asco.org

This model preselects “Meets Medicare genetic testing criteria” selector, when one or more combinations exist.

  1. Patient breast cancer <= age 45
  2. Patient breast cancer <= age 50 OR patient two breast cancer* at any age AND one or more:
    >= 1 close relative with breast cancer <= age 50
    >= 1 close relative with ovarian cancer at any age
  3. Patient breast cancer <= age 50 and 2 or more breast cancer tumors
  4. Patient breast cancer at any age AND one or more:
    >= 2 close relatives with breast or ovarian cancer at any age on same side of family
    Close male relative with breast cancer at any age
    Patient has had ovarian cancer at any age
    Close relative with BRCA gene mutation
    Patient is Ashkenazi
  5. Patient has had ovarian cancer at any age
  6. Patient is male and has had breast cancer at any age
    * (checks bilateral, unilateral and NNN different age, and pathology records)

MODEL 3 (NCCN Criteria for further genetic risk evaluation) page 6 of NCCN Guidelines Version 2.2.017

This model preselects “Consider genetic consultation” selector, when one or more combinations exist.

  1. Patient had ovarian cancer at any age
  2. Patient had breast cancer <= age 50
  3. Patient has had breast cancer at any age AND one or more:
    Any relative with BRCA or other cancer gene marker
    Patient has had triple negative (ER-, PR-, HERC2-) breast cancer <= age 60 (checks NNN entry)
    Patient has had >= 2 breast cancers*
  4. Patient had breast cancer at any age AND one or more:
    >= 1 close relatives with breast cancer <= age 50
    >= 1 close relatives with ovarian cancer at any age
    >= 2 close relatives with breast cancer or pancreatic cancer at any age on same side of family
    Patient has had pancreatic cancer at any age
  5. Patient has had male breast cancer at any age
  6. Patient is Ashkenazi and has had breast, ovarian, or pancreatic cancer at any age
  7. Patient and family history (any relatives) totals 3 or more of:
    (breast, pancreatic, prostate, colon, or endometrial cancer) at any age
  8. Patient has NO history of (breast, pancreatic, prostate, colon, endometrial, or ovarian cancer) AND,
    (checks “no cancer elsewhere” is not selected) AND one or more:
    >= 1 close relatives with BRCA gene marker
    >= 2 close relatives with bilateral or multiple breast cancers** at any age on same side of family
    >= 2 close relatives with breast cancer at any age on same side of family
    Any relative with ovarian cancer at any age
    Any male relative with breast cancer at any age
    Patient has a 1st or 2nd degree relative with breast cancer <= age 45
    Family history (relatives) at any age with a total of 3 or more of any combination of: (breast, pancreatic, prostate, colon, or endometrial cancer)
    * (checks bilateral, unilateral and NNN different age, and pathology records)
    ** (checks bilateral, unilateral and NNN different age)

MODEL 4 (Custom)

This model preselects “Consider genetic consultation” selector, when one or more combinations exist.

  1. Patient and/or first and/or second degree relative has had ovarian cancer at any age
  2. Patient and/or first and/or second degree relative has had breast cancer at <= age 45
  3. Patient and/or first and/or second degree relative has had triple negative breast cancer at <= age 60
  4. Patient and/or first and/or second degree relative has had 2 or more diagnoses of breast cancer or, bilateral breast cancer with first diagnosis at <= age 50
  5. Patient is male and has had breast cancer at any age
  6. Patient has first and/or second degree male relative with breast cancer at any age
  7. Patient has Ashkenazi Jewish ancestry AND, breast and/or ovarian, and/or pancreatic cancer at any age
  8. Patient has Ashkenazi Jewish ancestry AND, has first and/or second degree relative with breast and/or ovarian and/or pancreatic cancer at any age
  9. Patient and/or first and/or second degree relative has breast cancer diagnosed at <= age 50 AND,
    1 or more first and/or second degree relative on the same side of the family with:
    breast and/or ovarian and/or pancreatic, and/or prostate cancer at any age
  10. Patient and/or first and/or second degree relative with breast cancer diagnosed at any age AND,
    2 or more first and/or second degree blood relatives (same side of family) with:
    breast and/or pancreatic, and/or prostate cancer at any age
  11. Patient and/or first degree relative has had colon cancer < age 50
  12. Patient and/or first degree relative has had endometrial cancer < age 50
  13. Patient and/or first and/or second degree relative has colon and/or endometrial cancer,
    diagnosed at < age 50 AND,
    1 or more first and/or second degree relative on the same side of the family with:
    colon and/or endometrial cancer at any age
  14. Patient and/or first and/or second degree relative has colon and/or endometrial cancer,
    diagnosed at any age AND,
    2 or more first and/or second degree blood relatives (same side of family) with:
    colon and/or endometrial cancer at any age
  15. Patient and/or first degree relative has diagnoses of colon and endometrial cancer at any age
  16. Any 1st, 2nd, or 3rd degree relative has BRCA or other genetic mutation
PenTips #188 - Genetic Testing Eligibility

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PenTips #188 - Genetic Testing Eligibility

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