Patients

Breast Cancer

Lung Cancer

Colorectal Cancer

Metastatic Disease

Myeloprolifertaive Disorders

Gastroenterology

Healthscope Molecular offers DNA testing for a range of inherited gastointestinal conditions such as Coeliac Disease, Gilbert's syndrome, Haemochromatosis, and infectious diseases like hepatitis.

More information:

Genetics

The discipline of molecular diagnostics is the fastest growing sector of laboratory medicine today. We are developing and commercialising new tests at a rapid rate to assist doctors provide better screening, detection and prevention medicine.

All of the DNA in the human cell makes up what is called the human genome.

There are estimated to be about 30,000 gene pairs in each cell and these genes make up a person's genetic blueprint. The Human Genome Project has mapped the location, of all but a few of the genes in the human cells. At Healthscope molecular we are adapting and developing new tests that will have more relevance to most people.

Our test menu is growing all the time, so please visit us regularly to keep up with the latest.

More information:

Hepatitis

Healthscope Molecular provides a range of real-time in-house PCR assays for:

  • Hepatitis B DNA PCR
  • Hepatitis C RNA PCR
  • Hepatitis C Viral Load
  • Hepatitis C genotyping

More information:

Infectious Diseases

Healthscope Molecular provides a comprehensive range of molecular tests for the diagnosis and management of infectious diseases.

  • Blood borne viral infections
  • Sexually Transmitted Infections (STI&s)
  • Respiratory related infections

Assays for Blood Borne Viral Infections:

  • Hepatitis B DNA PCR
  • Hepatitis C RNA PCR
  • Hepatitis C Viral Load
  • Hepatitis C genotyping

Assays for Sexually Transmitted Infections:

  • Chlamydia trachomatis
  • Neisseria gonorrhoeae
  • Herpes Simplex types 1 & 2
  • Human Papillomavirus
  • HIV Viral Load

Assays for Respiratory Related Infections:

  • Bordetella pertussis PCR
  • Mycobacterium tuberculosis PCR

The routine diagnostic and more specialised infectious disease molecular testing has more recently been brought together under its own specialty laboratory at Healthscope Molecular.

This has allowed the research and development of new molecular tests to be maximised. It also concentrates the expertise, test volumes and sophisticated &state of the art& equipment required to achieve frequent testing and rapid turn around of results. Testing Frequencies

High volume assays such as those for Chlamydia and Gonorrhoea are performed daily excluding Sundays with negative results being reported the same or following day. All positive results are confirmed by retesting the original sample which adds an additional day to final reporting. Medium volume assays such as HIV viral loads are run three to four times a week with results available on the day of testing, whilst low volume non-urgent assays such as Hepatitis C viral loads and Hepatitis B DNA are tested once weekly or fortnightly with results reported the following day. Infrequently required assays such as TB PCR are performed as requested.

Quality Assurance

Both commercially manufactured and "in house" developed assays are employed. "In house" assays are evaluated and validated to the requirements and standards of the National Pathology Accreditation Advisory Council (NPAAC) which sets the standards against which laboratories undertaking human pathology testing are accredited against by the National Accreditation Testing Authority (NATA). &In house& assays are developed where there is either no suitable commercial assay available or where an improved assay that out performs available commercial assays can be developed. Our &in house& assays have inbuilt controls to detect any inhibition of the polymerase chain reaction (PCR) amplification step as well as also detecting the presence (or absence) of human DNA in the test sample. These two controls are crucial in guarding against false negative results and are often not incorporated into commercial PCR assays.

Healthscope Molecular actively participates in external quality assurance and proficiency testing programs for infectious disease. We are currently enrolled in programs run by the following:

  • Royal College of Pathologists of Australasia
  • National Reference Laboratory.

More information:

Infertility

In Australia, infertility can affect 1:6 couples. Healthscope Molecular offer a range of services to identify genetic changes which may lead to infertility.

IVF Success Rate

Recent medical publications and presentations at international IVF conferences have stated a significant percentage of embryos used in IVF may contain chromosomal abnormalities that can lead to miscarriage or pregnancy failure. Most experts suggest genetically testing the embryos prior to implantation will lead to improved IVF pregnancy rates.

Healthscope Molecular offers IVF companies a technology to screen single cells that have been safely removed from embryos to identify DNA abnormalities.

This increases the likelihood of pregnancy and birth by enabling IVF clinics to identify those embryos most likely to implant.

At the same time, the technology provides for DNA fingerprinting to occur, thereby matching the implanted embryo with that of its true parents.

More information:

Obstetrics and Gynaecology

Healthscope Molecular has a specialty interest in obstetrics and gynaecology. One in every 17 babies born in Australia is born in a Healthscope Hospital – some 14,000 births pa.

Our molecular division has developed a comprehensive and growing test range catering for obstetrics and women&s health more generally:

  • IVF – PCR based Pre-implantation Genetic Screening for Aneuploidy
  • Cytogenetics
  • Preconception screening for cystic fibrosis carriers
  • Inherited Folate deficiency
  • Cervical Cancer Risk
  • Male infertility

More information:

Oncology

Healthscope Molecular is developing a growing range of molecular tests to aid in the detection of cancer and improved prescribing of oncology drugs.

Our HPV test is the most advanced in Australia and was developed in collaboration with Genera BioSystems.

We have just released a pharmacogenomic test for Tamoxifen to assist in not only avoiding ADR, but also to ensure that the optimum dose and frequency is prescribed first time.

Through Healthscope Molecular&s cytogentics service, we offer a comprehensive service to aid the diagnosis and prognosis of cancer.

We are looking to expand test range to include cancer markers.

More information:

Pharmacogenomics (PGx)

What is Pharmacogenomics (PGx)?

Pharmacogenomics (PGx) is the science of how a person's genetic make-up influences the way we respond (either positively or negatively) to drugs.We all know examples where some people treated with medication either respond well, while others do not respond at all, while others experience some serious adverse reaction to the medication.The current paradigm for treating patients with medication is “one size fits all” or as in some cases, medication is based on "trial and error".

Variable inter-individual responses to certain drugs can be influenced by a number of factors, eg age, sex, pathology, life style or co-medication.However, it is becoming more evident that genetics plays a central role.In some instances genetics accounts for up to 60% of the patient variation in responses to drugs.

Pharmacogenomics identifies individuals who are at high risk of experiencing adverse drug reactions or those who may not respond to certain medications.

Pharmacogenomics is the first step toward "personalised medication".

What is PGx Testing?

PGx DNA tests look for changes in genes that play a major role in either:

1. Drug Clearance

Depending upon ethnicity, between 10-25% of the population are genetically known as "poor metabolisers", that is they do not have the enzymes within their livers to clear specific drugs from their bodies.As such, they are at increased risk of adverse drug reaction when blood concentrations of drugs increase to toxic level.These individuals require either alternate medication or much lower doses of the drug.

On the other hand, between 5-25% of the population are genetically known as "ultra metabolisers", that is they have multiple copies of genes that code for drug clearing enzymes.Here, these individuals clear the drug so fast that they usually have no effect, therefore require much higher doses than normal.

2. Drug Transport & Action

Other genes code for either the drug transporter or drug receptor.Here individuals with genetic variants may not be able to respond to medication since the level of receptor has changed or it is no longer functioning.

Why Is PGx Important Today?

Adverse Drug Reactions (ADR):

USA

  • 2.2 million adverse drug reactions per year.
  • 4th – 6th leading cause of death.
  • Cost of drug related morbidity and mortality $170 billion.
  • ADR&s account for 5% of all hospital admissions.
  • Overall incidence of serious ADR&s is 7%. UK
  • 250,000 people per year admitted to hospital with an ADR.
  • 6.5% of new hospital admissions
  • Estimated healthcare burden of ADRs, over £450 million. Australia
  • 140,000 ADR&s reported each year.
  • One in ten GP consultations are patients who have suffered anADR.

Who Benefits From PGx?

Clinicians

Able to make more informed decisions about drug selection and dosing, thereby improving patient safety.

Able to identify the cause in many instances, of adverse drug reactions. Patients

Identifying “at-risk” individuals, will improve patient safety and reduce the frequency and severity of adverse drug reactions.

What PGx Tests are Performed Today?

Test Drug
CYP2D6
  • Antidepressants(SSRI&s and tricyclics)
  • Antipsychotics
  • Beta-blockers
  • Antiarrythmics
  • Opioids
  • Tamoxifen
CYP2C19
  • Antidepressants
  • Diazepam
CYP2C9
  • Warfarin
  • Phenytoin
  • Tolbutamide
VKORC1
  •  Warfarin
UGT1A1
  • Irintotecan

What Tests Are Coming?

Test are being developed for a range or drugs, including asthma medication, statins, antidepressants, anti-Alzheimer medication and antihyperglycaemics. The tests are for the following genes:

  • B2AR
  • TPMT
  • CETP
  • APOE
  • serotonin transporters
  • CYP3A4
  • CYP3A5
  • MDR1

More information:

 

Sexual Health

This is a particularly area of expertise for Healthscope Molecular. Each year, we perform many thousands of STI tests, including Chlamydia, Gonorrhoeae, Herpes, HIV and HPV.

By concentrating STI testing in Healthscope Molecular&s laboratory, it has allowed the research and development of new molecular tests to be maximised. It also concentrates the expertise, test volumes and sophisticated &state of the art& equipment required to achieve frequent testing and rapid turn around of results.

High volume assays such as those for Chlamydia and Gonorrhoea are performed daily:

  • Chlamydia and Gonorrhoea PCR – a multiplex (detects more than one agent in the same assay) real time &in house& PCR
  • Herpes simplex (1 and 2) and Varicella zoster viruses (Herpes group PCR) – also designed as a multiplex real time &in house& assay
  • Human Papilloma Virus (HPV) – this is a unique, novel and world leading PCR assay developed by Healthscope Molecular in collaboration with Genera Biosystems.
  • HIV - the latest technology from Roche Diagnostics, the &Taqman 48& real time PCR machine running the COBAS Taqman HIV-1 assay is employed.

More information:

Collection Centre Search