Patients

Understanding genes and health at Progenics.

Genes and genetic testing can be very complex; at Progenics we are experts at helping you understand your genes and how genetics can help you at every stage of life - from before conception to adult life.

A precise diagnosis can be very helpful; knowing the exact genetics can help your healthcare team design a tailored management plan specific to your needs. It also allows identification of others who are at risk and could be protected.

Areas We Provide Expert Assessment For

Inherited or genetic conditions

Medical problems that run in families (inherited or genetic conditions). Inherited conditions can affect one organ (for example, only the heart or the skin) or many, and can often manifest in different ways in individuals of the same family.

Cancer genetics

Genetic changes that are important for the treatment of cancers (cancer genetic testing) to accurately predict risk and which treatments are best to use.

Pharmacogenomics

Genetic variation that can help determine the medications that are the safest and most effective for you (pharmacogenomics testing to determine the most optimal medications for an individual).

Follow-up

Expert and patient-centred care for patients with certain conditions, including individuals at risk of inherited heart disease.

Inherited or genetic conditions

Your connective tissue disorder may be a form of genetic heart condition, meaning that it is caused predominantly by a single genetic mutation (a spelling mistake or error in a gene). This genetic mutation could have been passed through your parents to you (inherited) or could have occurred for the first time in you (de novo).

If inherited, your parents may not be affected by the condition as seriously — they even may only be silent carriers of the condition, depending on how your inheritable disorder of the connective tissue manifests. In some cases, your family health history may also show evidence that the condition has been passed down through generations.

Cancer genetics

Determining an accurate diagnosis often requires genetic testing for various types of connective tissue disorders. This is because they can present similarly to each other; for instance, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome share symptoms with Marfan syndrome but require different interventions.

In the same vein, long QT syndrome can be misdiagnosed as epilepsy. Unfortunately, misdiagnoses can be a common occurrence when dealing with genetic heart conditions. However, genetic testing allows you to pinpoint which gene has been affected by a mutation, confirming the correct diagnosis.

Pharmacogenomics

With a firm diagnosis, you and your physician have the power to target treatment and prevention for that specific condition. You can avoid unnecessary procedures and focus on what is most likely to help. You can begin treatment early and minimise risks of more severe complications, including sudden arrhythmic death syndrome.

Knowing that you have a connective tissue disorder that is genetic also allows you to protect and care for your family. You can let siblings and parents know to get tested, as well as plan how you will best protect your children from inheriting the condition and/or live a full and happy life while managing it.

Follow-up

Questions to Ask About Genetic Testing

Can genetic testing only be done using a blood sample?

Genetic testing can actually be performed on almost any sample of tissue from your body. We commonly test saliva and blood — and often these are just as good as each other. Sometimes, a particular type of tissue is preferred but this depends on the type of genetic test you are undergoing. We’ll let you know at your consultation what is needed.

I just want some advice. Is genetic testing always necessary?

Not everyone wants or even needs a genetic test. At Progenics, there is never any obligation to have a genetic test. Personalised health advice can be provided even if there is no genetic testing performed.We are first and foremost about helping patients live better - genetic testing is but one tool that can help us achieve that for you.

Is my genetic information private and secure? Will my genetic data be shared with anyone else?

We only order genetic tests through laboratories with excellent quality standards (in Australia, these standards are also known as ‘NATA accreditation’). As part of this accreditation, laboratories have to ensure they have strict quality control measures, provide an accurate result and adhere to all government legislation regarding privacy.

Similarly, when we communicate your genetic results to you, we take your privacy very seriously and make every effort to ensure only you have access to your genetic test results. However, you are able to share this information with those that you want to, including family and relevant healthcare professionals.

Can my family members access my genetic and health information?

We want to meet not just your health needs but the needs of your family as well. For many genetic conditions, there is no cure, but timely prevention and regular management of risks can protect your loved ones. However, as our patient, your preferences are our top priority. We will only discuss your genetic test results and health information with your family members if you give expressed written consent authorising this. Without your consent, we will never share your information, unless required to by law.

I’m concerned about a family member who could be at risk, should they come with me to my appointment?

We strongly recommend that you bring along a partner, sibling, child or parent to your consultation with Progenics. They can provide additional contextual background to your familial health history, as well as provide emotional support in what can be a difficult time. If they would like to have a comprehensive assessment themselves, we can accommodate them into an Extended Family Consultation (EFC); all they need is a referral from their own doctor.

How much does genetic testing cost?

In Australia, there are several genetic tests that are funded by Medicare. Many others are funded by the Health Department of the state you live in. If you qualify for a Medicare-funded or State Government-funded test at a laboratory in Australia, there is no out-of-pocket cost for you. If you don’t qualify, or there is no funding for the most appropriate test for you, there will be an out-of-pocket cost (this is called a ‘self-funded’ test). For self-funded tests, patients are invoiced directly by the genetic testing laboratory. The cost of self-funded testing can range from a few hundred to several thousand dollars per patient, depending on how comprehensive the test is.

Where possible, we will always recommend an Australian laboratory. In some cases, overseas laboratories have the expertise that is best suited to your needs. If this is the case, we will explain why they are better and what the local alternatives are.

No matter what kind of funding is accessed for a genetic test (Medicare, State Government or self-funded), Progenics makes no money from any testing we order for you. Our aim is to look after your health.

Patient Journey

We offer most of our services as either face-to-face or via virtual consultation.

Connect with us

Talk to your doctor

See if our clinical genetics service is right for you. If you decide together that it is, your doctor will send us a referral.

In our initial contact with you we:

Help you to provide us with your personal and family medical history - we only access what we need, and only with written consent
Discuss whether an Extended Family Consultation (EFC) or Individual Consultation best suits your needs
Explain our service & associated fees

Your Consultations

Prior to your first consultation, we will gather health information relevant for understanding your needs.

During your consultations:

We thoroughly evaluate your medical and family history
If necessary, you will have a clinical examination to look for signs of an inherited condition
We will explain genetic testing options, including cost and insurance implications
We can arrange genetic testing

Genetic testing is rapidly evolving; we make sure we’re up to speed with it all, and only recommend testing if it’s the best option for you.

Your Evaluation

We often recommend a follow-up appointment. During your follow-up consultation we will:

Explain what your genetic test result means for you
Highlight how the right treatment plan can make a difference for your health
Discuss your family's health and how they can protect themselves
Write back to you and your doctors summarising the plan

Virtual care consultations, Australia-wide.

We use sophisticated and secure software so that we can review videos, factsheets and forms during your consultations - just like we would if you were seeing our experts face-to-face. We offer virtual care consultations for both metropolitan and regional/rural locations. It’s part of our passion to ensure our patients come away feeling informed and looked after - no matter where they are in Australia.

Care for you and your family, together.

If family members would like to attend for their own assessment alongside you, we offer Extended Family Consultations (EFC). By simply arranging their own referral, your partner, child, sibling or parent can be evaluated alongside you. There are many benefits to attending together - understanding complex genetic information and developing a shared understanding can help you focus on what’s important as a family. At the same time, sometimes it’s better to have a completely personalised assessment in an Individual consultation. We can provide whatever suits your circumstances the best.