Who should be referred in 2020?

Cancer Genetics Referral Guidelines

Inherited cancer syndromes are uncommon but being a mutation carrier can significantly increase cancer risk. Much of this risk can be reduced through screening and/or risk reducing surgery. Your patient may be at risk of other cancers and their family may also be at risk. The following may help with referrals.

  • A blood relative of a person with a known mutation in a high risk cancer predisposition gene

Breast cancer:

A patient, regardless of family history, and their current age should be referred if:

  • Triple negative breast cancer diagnosed <50. (Likely Medicare funded if other family history)
  • Any newly diagnosed triple negative breast cancer (as it may alter chemo and/or surgery choice)
  • Male breast cancer. (Likely Medicare funded if diagnosed <60 and if other family history)
  • Breast cancer diagnosed <40.
  • Bilateral breast cancer with first diagnosis under 50.

Ovarian cancer and gynae cancer:

  • Ovarian cancer: high grade serous at any age (Medicare funded if diagnosed at 60 or under)
  • Ovarian cancer: high grade endometrioid or clear cell < 70.
  • Endometrial cancer and colon cancer in same women

Colon cancer or polyps

  • Loss of MMR IHC staining of colon cancer (and, if loss of MLH1, also BRAF negative)
  • Bowel polyps: either of a rare type, > 3 polyps before 30yr or if over age 50, > 20 polyps
  • Colorectal cancer diagnosed before age 50.
  • Serrated polyps if 2 polyps >1cm or more than 20 serrated polyps at any age

Other referrals

  • Jewish heritage and a history of breast, ovarian or multiple early onset prostate cancers
  • Rare cancers and tumours, especially if diagnosed <45. This would include pheos, paraganglioma, medullary thyroid cancer, diffuse gastric cancer and many others. (see http://www.sydneycancergenetics.com.au/rare-cancers/rare-cancers-when-to-refer-to-genetics )
  • A personal history of multiple cancers (excluding lung and skin cancers), especially if <60.
  • A personal history of cancer and syndromal phenotype (eg buccal freckling, certain skin lesions)
  • 3 2 1 rule: Three closely related relatives, same cancers, one diagnosed under 50.

Unlike many public clinics, Sydney Cancer Genetics will see patients who haven’t had cancer but have a family history as well as individuals with cancer who may not fit the standard “high risk” criteria.

Sydney Cancer Genetics bulk bills Telehealth consults for patients who live in rural and regional Australia and meet MBS item 112 eligibility criteria. Telehealth consults are also available for metropolitan patients although no Medicare rebate is available for any part of the consult. (Note, the new COVID-19 item numbers cannot be applied to the item numbers 132 and 133 for complex consults that we use but public familial cancer clinics are still operating).

Sydney Cancer Genetics bulk bills Medicare funded genetic testing, if an item number is available.

Referrals to Sydney Cancer Genetics should be addressed to Dr Hilda High and can be sent via fax (02 9304 0468), email (info@SydneyCancerGenetics.com.au) or Mail (PO Box 845, Broadway, NSW 2007). More information, including family history questionnaires can be found on our website www.SydneyCancerGenetics.com.au or the eviQ Cancer Genetics testing, management and referral guidelines (see www.eviQ.org.au ). To discuss a particular patient or family, please call us on 02 9304 0438.

Posted in: For Drs