qml pathology 2017-2019 triennium audits€¦ · qml pathology 2017-2019 triennium audits enrol...

12
QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures > Non-invasive prenatal genetic testing (NIPT) > Cross reactivity of DHEA-S with progesterone assays The 2017- 2019 Triennium has now commenced. QML Pathology audits are aligned with the RACGP curriculum domains of practice and RACGP members can attain 40 QI & CPD points per calendar year per audit. ACCRM members can attain 30 PRPD points once per triennium per audit. Register now to begin your Category 1 QI approved CPD activity. QML Pathology is offering a new Dysglycaemic States and Diabetes Mellitus Audit in the current triennium, along with our established Surgical Skin Audit. DYSGLYCAEMIC STATES AND DIABETES MELLITUS AUDIT (NEW) The aim of this audit is to assist doctors in the evaluation of their approach towards patients with dysglycaemic states and those who are at high risk of developing diabetes. Identify patients with dysglycaemic states Evaluate how well your diabetes mellitus patients are controlling their diabetes Patient management tool Aligned with the Diabetes Annual Cycle of Care and PIP incentives RACGP approved 40 Cat 1 points QI approved every calendar year during the triennium and/or 30 ACRRM PRPD points once during the triennium. No special pathology request forms THE SURGICAL SKIN AUDIT The aim of this audit is to inform and improve clinical practice techniques, to enhance quality of care for patients. Assess your skin specimens according to: • Identification • Detection rate • Diagnostic accuracy • Histological accuracy • Overall treatment rates RACGP approved for 40 Cat 1 points QI every calendar year during the triennium and/or 30 ACRRM PRPD points once during the triennium, when 80 specimens have been received. Graphical Report delivered monthly when specimens have been submitted in a given month. Audit participants will receive green Surgical Skin Audit Request Forms after registration, which must accompany any specimens. Please note: The QML Pathology Cytology Audit will continue until the National Cervical Screening Program changes come into effect. EDUCATIONAL MATERIALS Additional doctor education materials are available at qml.com.au or from your Medical Liaison Officer. FURTHER INFORMATION For further information please speak to your Medical Liaison Officer, or contact the Education Team on (07) 3121 4453 or [email protected]. If you would prefer to receive the newsletter electronically, please email [email protected] ISSUE 1, 2017

Upload: others

Post on 15-Sep-2020

12 views

Category:

Documents


0 download

TRANSCRIPT

Page 1: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points

INSIDE THIS ISSUE:> HbA1c testing > Skin Procedures> Non-invasive prenatal genetic

testing (NIPT)> Cross reactivity of DHEA-S with

progesterone assays

The 2017- 2019 Triennium has now commenced. QML Pathology audits are aligned with the RACGP curriculum domains of practice and RACGP members can attain 40 QI & CPD points per calendar year per audit. ACCRM members can attain 30 PRPD points once per triennium per audit. Register now to begin your Category 1 QI approved CPD activity.

QML Pathology is offering a new Dysglycaemic States and Diabetes Mellitus Audit in the current triennium, along with our established Surgical Skin Audit.

DYSGLYCAEMIC STATES AND DIABETES MELLITUS AUDIT (NEW) The aim of this audit is to assist doctors in the evaluation of their approach towards patients with dysglycaemic states and those who are at high risk of developing diabetes.

Identify patients with dysglycaemic states

Evaluate how well your diabetes mellitus patients are controlling their diabetes

Patient management tool

Aligned with the Diabetes Annual Cycle of Care and PIP incentives

RACGP approved 40 Cat 1 points QI approved every calendar year during the triennium and/or 30 ACRRM PRPD points once during the triennium.

No special pathology request forms

THE SURGICAL SKIN AUDIT The aim of this audit is to inform and improve clinical practice techniques, to enhance quality of care for patients.

Assess your skin specimens according to: • Identification • Detection rate • Diagnostic accuracy

• Histological accuracy • Overall treatment rates

RACGP approved for 40 Cat 1 points QI every calendar year during the triennium and/or 30 ACRRM PRPD points once during the triennium, when 80 specimens have been received.

Graphical Report delivered monthly when specimens have been submitted in a given month.

Audit participants will receive green Surgical Skin Audit Request Forms after registration, which must accompany any specimens.

Please note: The QML Pathology Cytology Audit will continue until the National Cervical Screening Program changes come into effect.

EDUCATIONAL MATERIALS Additional doctor education materials are available at qml.com.au or from your Medical Liaison Officer.

FURTHER INFORMATION For further information please speak to your Medical Liaison Officer, or contact the Education Team on (07) 3121 4453 or [email protected].

If you would prefer to receive the newsletter electronically, please email [email protected]

ISSUE 1, 2017

Page 2: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

DOCTOR INFORMATION

Last Name: First Name: Middle Name:

QML Dr. Code (if known): RACGP QI&CPD/ACRRM No.: Important

CONTACT DETAILS

Provider No.:

Practice Address (Primary Location):

Suburb: State: Postcode:

Phone: Fax: Mobile:

Email Address:

Other Practice Location:

Phone: Provider No.:

WHICH AUDIT/S WOULD YOU LIKE TO REGISTER FOR? - PLEASE TICK

Mandatory

£ Please tick to request that the email provided above is not used for marketing communications.

PRIVACY All information supplied will be treated in accordance with the Privacy Amendment (Private Sector) Act 2000 and the National Privacy Principles. Only de-identified information will be supplied. No identifying demographic details of either the patient or the referring doctor will be released.

Please Note: Specific pathology request forms must accompany all specimens submitted to the Surgical Skin Audit. Any specimens submitted without the required request form cannot be counted in the audit. The Dysglycaemic States and Diabetes Mellitus Audit does NOT require special request forms. Patient figures and statistics included in all QML Pathology Audit reporting can only reflect those patients who have been referred and presented for testing at QML Pathology. Doctors will receive reports only relevant to the audit/s they have registered with as above.

DOCTOR’S SIGNATURE Date: / /

Complete, scan and email or fax this registration form to [email protected] / (07) 3121 4478

Surgical Skin Audit Dysglycaemic States and Diabetes Mellitus Audit

REGISTRATION FORM

Please complete all sections below. Please note: Supplying your RACGP QI&CPD/ACRRM number and email address is vital for us to accurately allocate your education points.

Audit Registration Form

Page 3: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

Laboratory Monitoring of Diabetes: Could this HbA1c result be real?Dr Julia Chang, QML Pathology

INTRODUCTIONHbA1c testing forms an important part of the management of diabetes mellitus as it provides an indication of the effectiveness of glycaemic control for the interval of 10 to 12 weeks before the test. However, this assumes a normal proportion of haemoglobin A and a normal red cell life-span and as such factors affecting either of these may invalidate the result. Where HBA1c may be unreliable as shown in the following case study, alternative markers such as fructosamine may be useful to complement or substitute for the HbA1c.

CASE STUDYMr G, a 67-year-old man of Maltese descent with newly diagnosed diabetes, was referred to the laboratory by his GP for HbA1c testing. There was no other significant medical history. His laboratory results are as follows:

Oral Glucose Tolerance Test:Fasting glucose: 6.5 mmol/L 2-hour glucose: 11.3 mmol/L

HbA1c (assayed by a HPLC method): 56% That’s right-56%! (estimated average blood glucose: 86 mmol/L)

HbA1c (assayed by an enzymatic method): 3.7% (estimated average blood glucose: 3.3 mmol/L)

QUESTIONS TO CONSIDER1. Which HbA1c result is accurate?

2. What could explain this patient’s discordant HbA1c results when the same blood sample was assayed by different methods?

3. What other markers could be used for monitoring his glycaemic control?

COMMENTARYWhich HbA1c result is accurate?

After discussing the results with the requesting GP, both HbA1c results did not fit with the clinical picture. Therefore both results were inaccurate and did not reflect Mr G’s average glycaemia over the preceding two to three months.

What is happening?

Mr G’s HbA1c level was 56% when assayed by ion-exchange HPLC method. A review of his haemoglobin chromatogram (Fig. 1) showed an abnormal peak interfering with the isolation of the glycated haemoglobin. His haemoglobin electrophoresis study showed an

abnormal haemoglobin component suggesting the presence of an unrecognised haemoglobin variant. The presence of this unrecognised haemoglobin variant also causes a spurious decrease in HbA1c result of 3.7% when the same sample was assayed by an enzymatic method.

PEAK NAME RT AREA AREA% CONCENTRATION (%NGSP)

A1a 5.67 2597.87 2.07F 6.90 10049.99 8.00HbA1c 11.06 57193.11 56.08P3 19.12 4764.12 3.79A0 24.36 51021.64 40.61

Total Area: 125627

Fig. 1: Unrecognised haemoglobin variant interfering with the analysis of HbA1c value

CASE STUDY

>>> CONTINUED OVERLEAF

Page 4: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

More than 900 haemoglobin variants have been described to date and some variants are more common in certain ethnic groups. This case illustrates that haemoglobin variants can make interpretation of HbA1c quite challenging as these patients can have either a falsely elevated or falsely lowered HbA1c level depending on the type of method used by the laboratory. Subjects who are heterozygous for many of these haemoglobin variants are usually asymptomatic and may have normal red cell survival. Thus the physicians may be unaware that their patient with diabetes has one of these haemoglobin variants. Therefore if there is any doubt whatsoever about HbA1c results, clinicians are encouraged to contact the laboratory. Further investigations for the presence of possible haemoglobin variants can then be undertaken.

Alternatives to using HbA1c

In situations where HbA1c measurement is confounded with haemoglobinopathies, using alternative markers is desirable. The patient can either perform self blood glucose monitoring before and after meals, or other glycated proteins such as fructosamines, or the level of 1,5-Anydroglucitol can be measured.

Mr G had a fructosamine test performed. The result of the fructosamine was 237 umol/L (reference interval <266 umol/L) which was more consistent with the clinical picture.

Thank you to Dr. Jacques Viljoen of the Sarina Clinic for contributing to this case study.

PATHOLOGIST PROFILEDr Julia Chang MBBS (Hons) BSc (MED) (Hons) FRCPA Consultant Chemical Pathologist

P: (07) 3121 4983 E: [email protected] Julia Chang graduated with a Bachelor of Medical Science (Honours) from the University of Sydney in 1997. She continued her studies, graduating in 2000 from the University of Sydney with a Bachelor of Medicine, Bachelor of Surgery (Honours). Dr Chang undertook an internship with the Concord Repatriation General Hospital in 2001. Following this, she was employed as a Chemical Pathology Registrar at the Princess Alexandra Hospital from 2003 to 2004, and with Queensland Health Pathology Services (QHPS) Central Laboratory, Royal Brisbane Hospital between 2004 and 2007. Dr Chang joined QML Pathology as a Chemical Pathology Registrar, moving into the role of Consultant Chemical Pathologist in 2008. This same year she obtained her fellowship with the Royal College of Pathologists Australasia (FRCPA). Her special interests include iron disorders, clinical chemistry of pregnancy and drug testing.

QML PATHOLOGY UPDATES

We have been advised by our assay supplier that DHEA-S (a metabolite of DHEA) may cause falsely elevated results with their progesterone assay.

As you can see from Figure 1, DHEA-S is closely chemically related to progesterone, therefore the cross reactivity of DHEA-S with progesterone assay is not unexpected. This interference could influence clinical management of women taking DHEA supplements as part of their IVF treatment plan.

FURTHER INFORMATIONFor more information please contact the QML Pathology biochemistry department on (07) 3121 4444.

Biochemistry NoticeCross Reactivity of DHEA-S with Progesterone Assays

Figure 1

Page 5: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

MBS Item Numbers for Skin ProceduresDr Patricia Renaut, QML Pathology

QML PATHOLOGY UPDATES

DIAGNOSTIC BIOPSY This has to be performed as an independent procedure,

and has to be clinically necessary to allow appropriate management

The specimen must be sent for histological examination

Also to be applied to shave excisions

Procedure Item numberSkin biopsy 30071

Mucous membrane biopsy 30072

EXCISIONS All item numbers apply to surgical excisions (not shave

excision) with repair

All specimens have to be sent for histological examination

The removal of scars excludes scars that are removed during the surgical approach at an operation

An episode of care includes the excision and closure of a lesion, even when performed at separate attendances, and the post-operative treatment/follow-up until recovery

Defect/excision diameter is calculated as follows:

Item numbers for benign lesions cover benign tumours, ulcers, scars and cysts but exclude verrucae and seborrhoeic keratoses

Excision of pre-malignant lesions including solar keratoses need to be clinically indicated

Item numbers for the definitive excision of malignant melanoma, appendageal carcinoma, Merkel cell carcinoma and malignant connective tissue tumour of skin (31371-31376) require adequate clinical margins as per guidelines

Excision of a malignant lesion with curative intent should be billed as such even when the margins are involved and further surgery is needed

For audit purposes, the following should be clearly indicated on the histology request form:

Type of specimen (biopsy – shave, punch, incisional; excision – shave, punch, elliptical or other)

Defect diameter as specimen shrinkage often occurs due to tissue retraction

The lesion size, clinical margins taken and defect diameter need to be recorded in patient notes

31340 is the item number for excision of muscle, bone or cartilage (one or more of ), if clinically indicated, in the surgical management of a malignant tumour of skin of any size and in any location. The fee is 75% of the fee for the excision of the malignant tumour

1 NOVEMBER 2016 CHANGESUnder the current schedule which came into effect on 1 November 2016 several items have been made defunct and there are now 21 new skin excision items (previously 48). Two new restricted items for flap repair have been created. Amendments have been made to the pre-existing item numbers for flap repair so that they can no longer be used for closure of skin cancer excisions. Five new item numbers covering biopsy and excision of lesions from mucous membranes have been created. There are also amendments to items 30071, 31220, 31225 and 31340. With these changes, the list of MBS item numbers for skin procedures has been simplified and a review of the effect of these changes is planned after one year.

For the purpose of items 31356 to 31376 the defect size is calculated by the average of the width and the length of the skin lesion and an appropriate margin. Therefore the necessary excision diameter is calculated as follows:

Defect size = excision length (A) + excision breadth (B)

2

>>> CONTINUED OVERLEAF

Page 6: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

QML PATHOLOGY UPDATES

MBS ITEM NUMBERS FOR SKIN PROCEDURES

REGION 1 Nose, eyelid, eyebrow, lip, ear, digit, genitalia, OR from a contiguous* area *‘Contiguous’ is taken to imply a location that is immediately adjacent to the above anatomical sites, such that the excisional path would impinge on those sites.

Defect diameter <6mm ≥6mm ≥1/3 Area of applicable site (Hospital setting only)

Benign 31357 31360 N/A

BCC/SCC/KA/lymphoma or metastasis 31356† 31358† 31359†

Melanoma/appendageal/Merkel/connective tissue tumour N/A 31371† N/A

45201 FLAP N/A Yes Yes

45202 FLAP (restrictions apply) Yes Yes Yes

Wedge excision (full thickness) of lips, eyelid or ear 45665, Any size

REGION 2 Face, neck, scalp, nipple-areola complex, distal lower limb (distal to and including the knee), distal upper limb (distal to and including the ulnar styloid)

Defect diameter <14mm ≥14mmBenign 31362 31364

BCC/SCC/KA/lymphoma or metastasis 31361† 31363†

Melanoma/appendageal/Merkel/connective tissue tumour 31372† 31373†

45201 FLAP N/A Yes

45202 FLAP (restrictions apply) Yes Yes

REST OF BODYParts of the body not covered by regions 1 and 2

Defect diameter <15mm 15 to 30mm >30mmBenign 31366 31368 31370

BCC/SCC/KA/lymphoma or metastasis 31365† 31367† 31369†

Melanoma/appendageal/Merkel/connective tissue tumour 31374† 31375† 31376†

45201 FLAP N/A N/A Yes

45202 FLAP (restrictions apply) Yes Yes Yes†31340 excision of muscle, bone or cartilage can be claimed with these item numbers

MUCOUS MEMBRANES

Defect diameter ≤10mm 10.1-20mm >20mmTumour, cyst, ulcer or scar 31206 31211 31216

MULTIPLE EXCISIONS OF BENIGN LESIONS (Tumour, cyst, ulcer or scar), each ≤10mm diameter

Number of lesions 4-10 >10Cutaneous or subcutaneous tissue 31220 31225

Mucous membrane 31221 31225

Page 7: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

QML PATHOLOGY UPDATES

>>> CONTINUED OVERLEAF

REGION 1 Nose, eyelid, eyebrow, lip, ear, digit,

genitalia or from a contiguous* area

REGION 2 Face, neck, scalp, nipple-areola complex, distal lower limb (distal to and including the knee) or distal upper limb (distal to and including the ulnar styloid)

REST OF BODY The rest of the body not

covered by regions 1 or 2

FLAPSMedicare benefits for flaps are only payable when a flap is required:

To adapt the scar position optimally with regard to skin creases/landmarks

To maintain contour on the face or neck

To prevent distortion of adjacent structures or apertures

If the defect cannot be closed directly

The applicable item numbers in the non-hospital setting are 45201 and 45202, which cover muscle, myocutaneous or skin flaps (including Z plasty).

45201 can only be applied to item numbers corresponding to the larger/largest defect diameter in each of regions 1, 2 and rest of body. This number can only be claimed once per defect but an additional flap for the same defect can be claimed under item 45202, if clinically indicated.

45202 can be used if:

45201 applies and an additional flap repair is required for the same defect

45201 does not apply and either:

The patient has severe pre-existing scarring, skin atrophy or sclerodermoid change

The repair is contiguous with a free margin

FREE GRAFTING

45439 applies to 1 defect, small (split skin)

45442 applies to 1 defect, extensive (split skin)

45442 applies to 1 defect (full thickness)

Page 8: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

QML PATHOLOGY UPDATES

QUICK GUIDE TO ITEM NUMBERS FOR OTHER SKIN PROCEDURES

Procedure Item number

Definitive removal of palmar or plantar warts, < 10 lesions

Non- ablative treatment 30186

Definitive removal of palmar or plantar warts, ≥ 10 lesions

Non- ablative treatment 30185

Ablative treatment solar keratosis ( ≥ 10 lesions) Cryotherapy or chemical removalNote: Benefits for treatment of <10 lesions are on attendance basis only

30192

Simple curettage/shave excision/electrosurgical destruction, ≥ 1 lesions - Benign neoplasm

E.g. Solar keratosis (not verruca, seborrhoeic keratosis, cysts or tags)

30195

Serial curettage excision - Malignant Skin or mucous membrane 30196

Serial curettage excision, ≥ 10 lesions - Malignant Skin or mucous membrane 30197

Cryotherapy - Malignant Skin or mucous membrane 30202

Cryotherapy, ≥ 10 lesions - Malignant Skin or mucous membrane 30203

Incision with drainage Haematoma, abscess, furuncle or similar lesion

30219

Lipoma removal ≥ 50mm diameter and subfascial 31345

Excision of muscle, bone or cartilage If clinically indicated when a malignant tumour of skin has been excised; requires histological assessment

31340

Haemangioma/lymphangioma, excision and suture of: Small, skin/subcutis or mucous surface (excluding facial muscle/breast)

45030

Large, involving deeper tissue including facial muscle/breast

45033

FURTHER INFORMATIONDr Patricia Renaut FRCPA; MBBS; BSc (Hons) Consultant Histopathologist & Dermatopathologist

P: (07) 3121 4607 E: [email protected] Patricia Renaut graduated from St Bartholomew’s Hospital Medical School, London, (MBBS; BSc (Hons)) where she obtained a distinction in Pathology. In 2006 she completed her specialist training in Pathology in Queensland. Prior to Dr Renaut’s appointment at QML Pathology, she

worked as a Consultant in Anatomical Pathology at the Princess Alexandra Hospital, mainly focusing on breast, haematolymphoid, renal, GI and skin pathology as well as cytology. During this period, Dr Renaut created the state-wide amyloid diagnostic and mass spectrometry subtyping service, which has aided in the confident subtyping of amyloid. Dr Renaut joined QML Pathology in 2014 as a Consultant Histopathologist and Cytopathologist. She has co-authored articles for several publications including Internal Medicine Journal, Pathology, and the Journal of Biomedicine and Biotechnology. Her special interests include skin, haematolymphoid, breast and GI pathology.

The Department of Health has advised that the implementation of the new National Cervical Screening Program (the Renewal) is now not expected to go ahead as planned on the 1st of May 2017. At time of print the Department of Health has provided a revised

implementation date of 1st December 2017. QML Pathology will endeavour to update practitioners in regards to any further updates. The QML Pathology Cytology Audit will continue until the National Cervical Screening Program changes come into effect.

For more information about the planned program please visit cancerscreening.gov.au/cervicalscreening

National Cervical Screening Program Important Update

Page 9: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

WHAT IS NIPT?In pregnancy, standard clinical practice in Australia includes offering screening for fetal chromosomal and structural abnormalities. Prior to the advent of non-invasive prenatal genetic testing (NIPT; also known as non-invasive prenatal screening/NIPS) the commonly used serum screening tests involved the measurement of biochemical markers which typically had false-positive rates of 4%–5%. If an increased risk was detected, confirmatory invasive testing ensued, usually involving either amniocentesis or chorionic villus sampling, both of which carry a low but definite risk of pregnancy loss.

NIPT is a more recently developed and introduced laboratory test for fetal chromosomal abnormalities. It is performed on cell-free DNA obtained on peripheral maternal blood, usually drawn after the 10th week of gestation. It offers the opportunity for earlier and more accurate detection of common chromosomal trisomies than traditional biochemical or combined screening, with lower false positive and false negative rates. These favourable test characteristics have resulted in rapid incorporation of the test into standard prenatal testing pathways globally, although the cost of the test is currently not covered by the MBS in Australia.

WHO SHOULD BE OFFERED NIPT?NIPT for common chromosomal abnormalities (trisomies 13, 18, 21) has been implemented into clinical practice using a number of different models and protocols, either as a general screening test offered to all pregnant women, or as a contingent screening test for higher risk women. Ultrasonography remains an important adjunct investigation, as it provides additional information about fetal viability, structural abnormalities, and the possibility of twin or multiple pregnancies. Proceeding directly to invasive testing may also be recommended for women who are considered to be at very high (>1/10) risk of aneuploidy. In Australia, all these models are currently in common clinical use.

In the UK, the National Screening Committee recommends systematic screening of high risk pregnancies by NIPT, and has introduced NIPT to the NHS. A 2016 study published in the BMJ found this to “improve quality of care, choices for women, and overall performance within the current budget”. 1

In the USA, the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) have recommended NIPT as a prenatal screening option for all pregnant women, regardless of age or risk factors. 2,3

Whilst NIPT is a highly accurate test, current guidelines recommend for all patients whose results indicate aneuploidy as likely or highly likely (i.e. a “positive” result) to undergo confirmatory testing by an invasive method, as both false positive and false negatives may rarely occur.

WHAT TO DO ABOUT TESTS WHICH FAIL DUE TO LOW FETAL FRACTIONClinical guidelines from the ACMG in 2016 recommend that patients with a “test failure” result due to low fetal fraction should be offered diagnostic (invasive) testing, with a redraw not recommended due to the higher risk of aneuploidy in this patient group.

A recently published review by Yaron.Y of all studies on NIPT that included >1000 samples evaluated test failure rates by technology, and found that whole genome sequencing (WGS) based NIPT had the lowest test failure rate (1.58%), whereas methods using single nucleotide polymorphism (SNP) analysis had the highest failure rate (6.39%). Some of the clinical implications of test failures in NIPT included:

• Decrease in actual sensitivity compared to claimed sensitivity, as often test failures can be classified as not having detected an aneuploidy (i.e. normal/negative result)

• Repeat blood draws, and • Longer turnaround times

The study concluded that test failure rates due to low fetal fraction are an important test performance metric which should be incorporated into summary statistics about NIPT tests.4

TAKE HOME MESSAGES: 1. All women should be offered the option of aneuploidy

screening (including NIPT) regardless of age.

2. NIPT is the most accurate screening test to detect common chromosomal aneuploidies.

3. Positive NIPT results should be confirmed using definitive diagnostic techniques for chromosome abnormalities, such as amniocentesis or CVS biopsy.

4. Test failures due to low fetal fraction are an important metric, and patients whose results fail due to a low fetal fraction should be considered for invasive testing rather than repeat NIPT.

5. NIPT for microdeletions should only be offered by specialist practitioners to selected cases, and only after counselling and discussion regarding invasive options.

Non-Invasive Prenatal TestingDr Melody Caramins

QML PATHOLOGY UPDATES

>>> CONTINUED OVERLEAF

Page 10: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

QML PATHOLOGY UPDATES

BENEFITS OF GENERATION® PRENATAL TEST It’s simple - Requires only a single tube of blood drawn from the patient It’s convenient - Blood can be collected in one of our collection centres from as early as 10 weeks It’s reliable - It has the lowest test failure of any NIPT (0.1%)1

It’s fast - Results received within 3-7 business days from receipt in our laboratory^

HOW TO ORDER • Complete the Generation® NIPT consent request form with your patient, available from qml.com.au• Your patient contacts our Customer Care Team on 1800 822 999 to prepay and identify the most conveniently located collection centres• Once the Generation® NIPT is performed results are delivered to you via fax

FURTHER INFORMATION For more information on Generation® NIPT please visit generationNIPT.com.au or call us on 1800 822 999

Generation® NIPT and Generation® Plus NIPT are NOT Medicare rebatable. *Generation® NIPT standard cost is $395. ^Generation® Plus NIPT includes testing for microdeletions and trisomies 9 and 16 and costs $495, with results available 7-10 business days from receipt in our laboratory. Blood collection is available at selected collection centres only. 1. Bhatt S, Para S, Snyder H, et al. Clinical Laboratory Experience with Noninvasive Prenatal Testing: Update on Clinically Relevant Metrics. ISPD 2014 poster.

a new era in prenatal testing Tested in Australia Based on Whole Genome Sequencing Microdeletion testing also available^

NOW ONLY $395*

Generation® Non-Invasive Prenatal Testing (NIPT) represents a major advance in screening and risk assessment for chromosomal abnormalities.

FURTHER INFORMATIONDr Melody Caramins BMed PhD FRCPA FFSc (RCPA) Genetic Pathologist & National Head of Genetics P: 61 7 3121 4660 E: [email protected]

QML Pathology’s Genomic Diagnostics is headed by Dr Melody Caramins. Dr Caramins is a nationally recognised expert in the field of genetics, holding both medical and scientific specialist qualifications. She has over 20 years of experience working in medicine and pathology, in roles including direct healthcare delivery, research, and in the provision of diagnostic services at a senior level in both public and private healthcare settings. Dr Caramins was awarded her FRCPA in 2006 as Australia’s first graduate from the Genetic Pathology program, with her training undertaken in Sydney at Royal Prince Alfred Hospital and Prince of Wales Hospital. She has a longstanding interest in improving patient care by integrating research, clinical and diagnostic activities, and has published a number of journal articles highlighting this in diverse clinical settings including prenatal genetics, cancer genetics, and adult-onset genetic disorders. She continues to be an active advocate for greater access to genetic testing, and for greater inclusion of genetics in mainstream medicine through her ongoing teaching and committee activities nationally.

REFERENCES: 1. Chitty, LS, et al. “Uptake, outcomes, and costs of implementing non-

invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.” bmj 354 (2016): i3426.

2. Screening for Fetal Aneuploidy. ACOG Practice Bulletin No. `63. American College of Obstetricians and Gynecologists. Obstetrics and Gynecology. 2016; 127: 123-137.

3. Gregg, AR, et al. “Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.” Genetics in Medicine 18, no. 10 (2016): 1056- 1065.

4. Yaron Y. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon. Prenatal diagnosis. 2016 May 1;36(5):391-6.

Page 11: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

Dr Rod Borrowdale MBBS Hons (QLD), FRACS

Dr Borrowdale is an experienced General Surgeon and Gastrointestinal Endoscopist with consulting rooms at North Lakes. He operates at Peninsula Private Hospital, Kippa-Ring, Monserrat Day Hospital, North Lakes, and Redcliffe Hospital. Dr Borrowdale maintains a wide interest in general surgery including colorectal and breast cancer surgery, intestinal surgery for benign disease, cholecystectomy, melanoma and skin cancer, parathyroid and thyroid surgery. GI endoscopy is also a major component of Dr Borrowdale’s medical services.

P: 07 3910 5150 F: 07 3910 5160 [email protected]

Dr Melissa Carroll LMusA, BA, LLB (Hons), MBBS, FACD

Dr Melissa Carroll is a general dermatologist and a Fellow of the Australasian College of Dermatologists. Dr Carroll has worked at the Princess Alexandra Hospital, Royal Brisbane & Women’s Hospital, Queensland Institute of Dermatology and Lady Cilento Children’s Hospital. She also has rural clinical experience, attending dermatology clinics in Gladstone. Dr Carroll’s subspecialty interests include skin cancer screening and management, atopic dermatitis, psoriasis, acne and general dermatology. Dr Caroll is available for consults at Bulimba Dermatology.

P: 07 3399 1100 bulimbadermatology.com.au

Dr Stuart Aitken MBBS, Dip Ven, FAChSHM

Dr Aitken is a Sexual Health Physician consulting at the Evandale Practice in Bundall. With extensive experience working as a senior specialist in the public system, his areas of interest include HIV medicine, HIV pre-exposure prophylaxis (PrEP), genital dermatology, hepatitis C treatment, gender medicine (including paediatric gender dysphoria), and unusual STIs or syndromes. Bulk billing can be arranged by the referring clinician.

P: 07 5510 3122 [email protected] www.stuartaitken.org

Dr Soong-Yuan Ooi MBBS, GCHlthSci(ClinEd), FRACP

Dr Soong-Yuan Ooi is an Australian trained Gastroenterologist with a sub-specialty interest in inflammatory bowel diseases (IBD). Based at Holy Spirit Northside Hospital (Chermside) and North West Private Hospital (Everton Park), Dr Ooi provides consultation services in general gastroenterology with a keen interest in IBD, together with endoscopy and colonoscopy procedures including bowel cancer screening.

P: 07 3193 0876 [email protected] www.ooigastro.com.au

Professor Andreas Obermair MDVIE, FRANZCOG, CGO

Professor Andreas Obermair has relocated his consulting practice to Spring Hill in inner Brisbane. Professor Obermair treats patients with gynaecological cancer (uterine, ovarian, cervical, vulval, vaginal cancer) and complex gynaecological conditions (uterine fibroids, abnormal uterine bleeding, ovarian masses and complex cysts). He also performs prophylactic surgery for BRCA1, BRCA2, Lynch and increased personal risk. Patients can be seen urgently if required.

P: 07 3847 3033 [email protected] www.obermair.info

Dr Jason Y Huang MBBS BMedSci FRACP

Dr Jason Y Huang is an Interventional Gastroenterologist with extensive post graduate fellowship experience in procedural gastroenterology. Dr Huang is located at St Andrews War Memorial Hospital, Holy Spirit Northside Hospital and more recently, North West Private Hospital. His services include consultations, open access endoscopy and colonoscopy, and complex endoscopic bariatric and pancreaticobiliary procedures.

P: 07 3193 0877 F: 07 3319 6466 www.drjasonhuang.com.au

The Doctors’ Noticeboard is a free service for medical practitioners. If you wish to place a notice, please email no more than 75 words to [email protected]

QML Pathology is pleased to announce that notification of our accreditation for Hair Drug Testing has been received from NATA (National Association of Testing Authorities, Australia). QML Pathology is proud to be the only Pathology laboratory in the country with NATA accreditation for Hair Drug Testing.

For further information, please contact (07) 3121 4444 or visit our website qml.com.au

Hair Drug Testing

DOCTOR NOTICEBOARD

QML PATHOLOGY UPDATES

Page 12: QML Pathology 2017-2019 Triennium Audits€¦ · QML Pathology 2017-2019 Triennium Audits Enrol today to start attaining your points INSIDE THIS ISSUE: > HbA1c testing > Skin Procedures

CLINICAL DATA

This newsletter has been prepared and published by QML Pathology for the information of referring doctors. Although every effort has been made to ensure that the newsletter is free from error or omission, readers are advised that the newsletter is not a substitute for detailed professional advice. © Copyright 2017.

Infectious Diseases ReportGEOGRAPHIC DISTRIBUTION - JAN 2016

ORGANISM Regions (as per key below) TOTAL

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 JAN DEC NOVAdenovirus (not typed) 2 14 1 1 7 5 3 13 7 3 2 58 72 80

Adenovirus (typing pending) 1 1 3 1 3 9 10 13

Barmah Forest virus 1 1 1 1

Bordetella pertussis 4 28 4 1 29 22 6 58 19 14 6 4 195 242 304

Brucella species 1 1 2 1

Campylobacter jejuni 1

Chlamydia pneumoniae

Chlamydia trachomatis, not typed 28 66 14 12 5 1 61 29 10 94 26 8 6 18 378 710 938

Coxiella burnetii 1 2 2 2 1 8 14 13

Cryptococcus species 1 1 1 3 1 2

Cytomegalovirus (CMV) 1 8 5 2 9 4 1 8 3 1 2 3 47 36 62

Entamoeba histolytica

Enterovirus - not typed 2 2

Epstein-Barr virus (EBV) 1 23 13 11 1 27 10 8 47 18 7 4 3 173 119 184

Flavivirus unspecified 7 3 2 4 1 1 2 1 21 22 14

Hepatitis A virus 1 1 1 3 4 2

Hepatitis B virus 3 13 3 1 2 19 7 76 7 4 4 1 140 103 129

Hepatitis C virus 22 60 33 8 2 39 42 9 80 29 18 11 21 374 311 401

Hepatitis D virus 1 2

Hepatitis E virus 1 1 2 2 1

Herpes simplex Type 1 23 78 31 11 71 1 40 11 122 66 12 18 15 499 383 439

Herpes simplex Type 2 15 40 8 2 20 15 7 45 27 8 11 8 206 196 237

Herpes simplex virus - not typed

HIV-1 2 3 1 7 2 4 1 20 14 12

HTLV-1

Human Metapneumovirus 1 12 3 3 1 13 9 3 14 14 5 4 82 122 198

Influenza A virus 2 56 7 4 36 23 7 65 66 3 7 12 288 200 235

Influenza B virus 4 2 1 5 1 5 1 5 24 47 58

Legionella pneumophila (all serogroups) 5 3

Legionella species

Leptospira species 1 1 2 6 8

Measles virus 1

Mumps virus 1 1 4 1 7 3 2

Mycoplasma pneumoniae 2 12 8 3 12 13 4 12 11 1 5 2 85 67 100

Neisseria gonorrhoeae 7 5 3 1 9 4 10 3 2 2 1 47 78 74

Parainfluenza virus 1 12 5 1 10 6 5 23 31 2 5 2 103 183 236

Parvovirus 1 1 3 1 1 2 9 12 8

Pneumocystis carinii 1 1 2 1

Respiratory Syncytial virus 1 18 2 2 16 6 4 16 11 1 13 1 91 64 75

Rhinovirus (all types) 5 21 11 2 19 17 10 46 37 8 15 8 199 260 418

Rickettsia - Spotted Fever Group 6

Ross River virus 1 13 8 2 8 10 1 11 15 5 3 2 79 49 48

Rubella virus 1

Salmonella paratyphi A 1

Salmonella paratyphi B

Salmonella typhi

Streptococcus Group A 2 4 3 1 5 56 8 6 11 7 1 1 2 107 79 110

Toxoplasma gondii 1 1 1 1 1 5 11 7

Treponema pallidum 34 13 13 5 6 1 54 3 16 4 60 10 4 27 2 252 230 254

Trichomonas vaginalis 3 2 1 1 1 4 12 34 51

Varicella Zoster virus 15 47 19 6 37 35 7 72 51 8 6 5 308 293 341

Yersinia enterocolitica

TOTAL 185 558 205 80 19 4 526 61 328 111 905 465 112 164 117 3840 3992 5070

FURTHER HISTORICAL CLINICAL DATA CAN BE OBTAINED BY CONTACTING MARKETING ON [email protected].

REGIONS:1 Cairns2 Gold Coast/Tweed3 Ipswich

4 Mackay5 Mount Isa6 New England7 North Brisbane

8 Northern Territory9 Redcliffe10 Rockhampton11 South Brisbane

12 Sunshine Coast13 Toowoomba14 Townsville15 Wide Bay/Burnett

Spec

ialis

t Dia

gnos

tic S

ervi

ces

Pty

Ltd

(ABN

84

007

190

043)

t/a

QM

L Pa

thol

ogy

PUB/

MR/

001

(Feb

-17)