Dr Hilda High has been conducting bulk billed Telehealth consults throughout rural and regional Australia since 2013. In this presentation, she summarises her experiences for the Royal Australian College of Physicians workshop on Telehealth.
It’s filled with practical tips and tricks for both GPs and Specialists.
Dr High’s presentation is followed by a presentation by Julia Martinovich entitled “How to Make Telehealth Work” and a short question and answer segment.
For information on Telehealth Item numbers for both Specialists and GPs (“patient-end”), see the MBS Online website MBS Video Consultation Items page.
(the first few introductory slides are missing, including the Outline of the talk:
Before the consult
During the consult
After the consult
Other tips and tricks)
Ordering BRCA Gene Tests
A guide for Specialists wanting to order BRCA testing under Medicare
While genetic testing may be “just” a blood test, it isn’t a “simple” blood test. To ensure correct guidelines are followed, see the Policy Directive on Genetic Testing and use the sample forms and guidelines below. Of course, you can refer your patient to us and we will do all the work for you!
1. Confirm eligibility for Medicare Item number
a) Item number 73297:
Pathogenic mutation detected in BRCA1, BRCA2, STK11, PTEN, CDH1, PALB2 and/or TP53 in a biological (blood) relative
b) Item number 73296:
Documented breast or ovarian cancer AND at least one of the following:
- Triple negative breast cancer diagnosed <30 years of age
- Invasive non-mucinous ovarian cancer diagnosed <60 years of age
- Jewish heritage
- A Family history of cancer consistent with a 10% pretest likelihood of a mutation
(Confirm pathology of breast, ovarian, prostate and/or pancreatic cancers and age of diagnosis via death certificate or pathology report. Patients can download our Family History Questionnaire and bring the completed form with them for discussion)
2. Obtain informed consent Patient to sign consent form after discussion:
- Implication of mutation vs variant vs uninformative result
For each gene on panel (BRCA1, BRCA2 and any others such as STK11, PTEN, PABL2 and TP53)
- Need to discuss new cancer risk eg ovarian, pancreatic
- Limitation of test (sensitivity, specificity and future research)
- Stress “no mutation” ≠ “no risk”
- Effect on income/disability insurance for self and relatives
- Next of kin contact and plan for cascade testing if mutation positive
- Information on how DNA will be stored, used in research, on-sold by particular lab
3. Order test
- Instructions for collector (2 tubes, 10mins apart, pt to sign)
- Ensure collection centre OK with accepting genetic test requests
- Provide Request for test for lab
- Ensure Lab eligible (eg Australian)
- Provide proof of consent, eligibility for item number
- Specify clinical urgency if treatment focused
- Provide genetic mutation report from relative if predictive testing
4. Give result to patient and discuss risk management
- Ensure understanding of implications for self and family (use Cancer Institute’s eviQ guidelines)
- Notify other treating doctors, with patient’s permission
- If mutation detected:
Refer for risk management (eg RRSO / RRM or Breast MRI screening)
Facilitate and/or organise cascade testing of at-risk relatives
(see example of “info for rels”)
- If variant detected or uninformative
Ensure patient (and other doctors) aware of specific meaning
Risk management based on family history
- Provide information on research and support groups
Address your referral to Dr Hilda High, Sydney Cancer Genetics.
- your patient’s cancer history (including age at diagnosis and pathology report if available)
- Reason for the referral /family history
- patient’s preferred contact phone number
We have just one phone number, one fax, one email and one address for correspondence:
- Fax: 61 2 9304 0468 (preferred method for receiving referrals
- Mail: PO Box 845 Broadway, NSW, 2007, Australia
- To discuss the specifics of your patient’s case, to ask a question or to make an appointment Phone: 61 2 9304 0438
We are happy to see anyone who is concerned about their own risk or their family’s risk of cancer, whether they personally have had cancer or not.
To aid with referrals, you can download our Family History Questionnaire, ask your patient to complete it and return later to discuss the cancer history with you.
The following family histories are NOT likely to be related to an inherited cancer syndrome.
- 3 relatives with breast cancer in the 60s or older
- A mix of bladder, lung and throat cancer in the 50s or older
- Melanoma and other skin cancers in the 50s or older
Instead they are likely to be related to longevity, environmental or lifestyle factors such as smoking or diet. These families should follow population based screening and healthy lifestyle advice.
Cancer is common, particularly over the age of 60. However, some family histories are suggestive of a familial cancer syndrome. Features include but are not limited to:
- Breast: diagnosis <40; bilateral breast cancer; male breast cancer; "triple negative" pathology
- Bowel: diagnosis <45; also a history of uterine cancer; loss of MMR IHC staining
- Bowel polyps:>3 polyps under 30; > 20 polyps lifetime; rare type of polyp
- Melanoma: unusual location eg uveal or very young onset
- Ovarian:all women with a high grade epithelial, non mucinous, ovarian cancer
- Renal cancer: diagnosis < 40; rare pathology type (eg papillary, chromophobe, oncocytoma)
- Rare cancers (eg pheochromocytoma, paraganglioma, adrenocorticocarcinoma)
- Rare pathology of more common cancers (eg medullary thyroid cancer; diffuse gastric cancer)
Note: unaffected but at-risk relatives may also wished to be referred, if their relative has died without testing and had a triple negative breast cancer, ovarian cancer, a young onset or a rare cancer type. Tumour samples are stored for around 15yrs, allowing tumour testing to be performed in some cases.
Detailed guidelines on cancer genetic referrals can be found on the Cancer Institute’s eviQ website.
You can also download a one page referral summary.
Tamoxifen, along with Raloxifene and Exemestane, has been show to decrease breast cancer risk in unaffected women at moderate or high risk of breast cancer because of their family history.
For more information, see the Cancer Australia FAQ on Tamoxifen for GP’s
(This post is reproduced from an article submitted to The Medical Observer on 7th June, 2016.)
GPs are skilled at assessing and treating patients and, in the case of complex problems, referring them to the right specialist. What’s different about genetic testing?
There is nothing truly difficult about being a genetic oncologist or clinical geneticist: much of it is pattern recognition based on acquired knowledge and experience.
And there isn’t anything intrinsically difficult about a ordering a genetic test. Such testing involves a blood or saliva sample to provide the white cells from which the germline DNA can be extracted.
The patient’s DNA is then screened for changes in the DNA code. These may be common and usually harmless (polymorphisms), disease-causing (pathogenic mutations), or the change may not yet be classified or fully understood (a variant).
As with any test, it’s the interpretation that can be is problematic. Think of trying to interpret an MRI scan without a radiologist’s report. For this reason, many providers of genetic testing, particularly direct-to-consumer testing, emphatically state that they don’t provide a medical service, diagnosis, treatment, or even advice.
This shifts the expensive part of the test — informed consent and explaining what the result actually represents in term of cancer risk — to the doctor who orders the test.
To continue the imaging analogy, the best way to investigate a sore knee might be via ultrasound, X-ray, CT, MRI or even blood test (if septic arthritis is considered). Similarly, genetic testing comes in different forms: single gene or genes, targeted panels, general panels, arrays or whole exomes or genomes.
Choosing the correct test is important to maximise health resource dollars and to avoid creating more uncertainty. For example, using breast MRI when a mammogram would do.
Ordering more tests is not necessarily better. Panel testing is not usually used in a clinical setting, as the more genes tested, the greater the chance of finding variants, each of which needs to be researched and considered.
Not all genetic labs provide the same quality of testing or interpretation. And, just as with imaging, not finding a mutation doesn’t mean there isn’t a problem.
When it comes to heritable cancer syndromes, a positive family history is still a positive family history whether a mutation is identified or not. That’s why the term uninformative rather than negative is employed when a mutation search doesn’t turn up a mutation. Such individuals and families remain at increased risk and therefore may require earlier onset and/or more intensive cancer screening.
GPs are often highly skilled at managing these families or co-ordinating their care.
Not identifying these individuals, or worse, providing false reassurance, might mean the patient doesn’t seek adequate or early screening or might present late for investigation of a symptom.
I would argue that if you are going to refer the patient to a genetics service anyway — because of a high-risk family history or if a variant is detected — it is much better to do so before ordering genetic testing. Long waiting lists don’t get any shorter when your patient is already anxious about an unexpected or unexplained result! This would reduce the risk of an incorrect or insensitive test being ordered.
Like surgery, whether it’s a small procedure performed in your practice or a total knee replacement, informed consent is required. This involves discussing the purpose of the genetic test (which requires an understanding of the syndromes associated with each gene to be tested), the benefits (based on a detailed family history) and risks (including on life insurance) and other options such as research opportunities and not having the test at all.
With genetic testing, I believe it should also form part of informed consent to discuss how the lab will handle the patient’s personal and family information and how the DNA sample will be treated and stored. For example, my usual lab is based in Australia and stores the DNA sample indefinitely.
This allows it to be used as a positive control in predictive testing of other family members and also allows future testing, even if the patient is deceased, if permission has been provided.
The lab also uses the samples for internal quality control and notifies me as information becomes available regarding a particular variant or when further testing should be performed due to changes in technology.
Some labs use the DNA to test other parts of the genome for independent research and development.
Some people baulk at the idea that their DNA may be used for commercial gain. I am not just talking about large corporations: public hospitals and universities have enthusiastically applied for patents and aggressively defended them. The commercial application of medical knowledge is big business.
One reason public clinics may have long waiting lists is because the consenting process, and explaining the result, takes time.
If something goes wrong, it is you, not the test provider, who is in the firing line. And doctors have been sued. They have been sued for failure to warn of genetic predisposition to cancer, premature utilisation of a genetic test to tailor treatment and incorrect interpretation of a test result, to name a few instances.
Just as you wouldn’t recommend a do-it-yourself knee replacement kit, long waiting lists shouldn’t be used as an excuse to provide inferior genetics services.
Public familial cancer clinics do triage patients, providing more rapid access for those needing to make cancer-related decisions. Outreach services exist for non-metropolitan patients. In my practice I provide bulk billed telehealth consults for rural or regional patients, usually to the GP’s practice.
Although GPs and registrars may sit in for only part, if any, of this consult, the detailed summary letters, complete with management guidelines, allow GPs to build up their experience of and familiarity with hereditary cancer syndromes. They also improve the recognition and management of individuals who are actually at low risk.
Moreover, by encouraging patients to attend with blood relatives, whole communities can be educated about cancer risk reduction.
So, while GPs can order cancer genetics tests, I would argue that most shouldn’t. This is not gate keeping, it’s about ensuring GPs, like all doctors, practice within their level of competence, keeping their patients safe and themselves out of the newspapers.