FREQUENTLY ASKED QUESTIONS.

+ What does a Clinical Geneticist do?

Clinical geneticists play an important role in interpreting personal and family history, offer appropriate genetic testing, and explanation of test results to families and specialists.

The disorders Clinical Geneticists investigate are not limited by age group, organ system or sex. Most patients may need to be seen on only one or a few occasions.

+ Who will benefit from seeing a Clinical Geneticist?

Many people would benefit from seeing a Clinical Geneticist including:

• Individuals with a known or suspected genetic condition.
• Family members of those with a known or suspected genetic condition.
• Families with several members affected by learning difficulties.
• Couples with a history of recurrent miscarriages.
• Couples or families following the death of a child from a known or suspected genetic condition.
• Couples for whom an abnormality with potential genetic implications has been detected during one or more pregnancies.

+ What should I expect at my first appointment?

The first appointment takes around 45 mins to one hour. There is no obligation to have a blood sample taken for genetic testing.

At your first consultation we will:

1. Go through the specific genetic questions that you wish to understand
2. Understand you personal and family history
3. Assess whether there is any genetic testing available which can provide you with further understanding of your medical condition(s)
4. Assess the recurrence risk of your medical concerns on your children, siblings, and extended family

Genetic testing is done using a sample of your blood. One, several or all genes are analysed, looking for a genetic cause of your medical conditions. The test ordered depends on what we are looking for. We would discuss the tests available, the likely results from testing, the cost and the time it will take to obtain a result. Genetic testing is tailored to the medical conditions you present with. It will not necessarily predict the conditions you will develop in the future.

If there is no single genetic test available, there may be a research team who would be able to enrol you into their study to further understand the genetics of your medical conditions The cost of your initial consultation will be $420 and is required at the time of the consultation. We accept cash, cheque, MasterCard and Visa. Please note, we do not bulk bill for face to face appointments. The cost of any genetic testing is not included.

+ What medical records should I send prior to my appointment?

After reviewing your questionnaire, we will let you know what specific medical records will likely be helpful for your upcoming appointment. In general, we would like copies of any genetic testing, previous genetic evaluations, or abnormal test results/studies that relate to why we are seeing you.

+ Should I bring medical records to my appointment?

Due to time limitations, generally, we are unable to review medical records at the time of your appointment. We prefer to receive records at least a few days before your appointment so that we have time to adequately review your records.

+ What is a Genetic Condition?

Genetic conditions occur when there is an abnormality within a person’s DNA. It may be as small as a single missing or misplaced gene, or as much as a missing or duplicated chromosome. Monogenic conditions are caused by a single altered gene which may be located on any of the 23 chromosome pairs. Multifactorial conditions are caused by alterations in several genes, often in combination with environmental influences.

+ What is Genetic Testing?

Genetic tests involve taking a sample of an individual’s DNA and examining it to identify variations in chromosomes, genes or proteins when compared to what may be considered a “normal” gene. Such variations include missing or duplicate genes or chromosomes, or alterations in the order of genetic material.

The results of a genetic test can help confirm or exclude a suspected genetic condition, to determine the likelihood of passing certain traits on to offspring, or to determine an individual’s chance of developing a certain condition over time.

Due to the in-depth nature of most genetic tests, it may take up to a month to receive your results, which can then be discussed with your clinician.

+ Will I get a genetic test? How much does it cost and what is involved?

Most genetic testing is not covered by Medicare or private health funds. If there are specific reasons you wish to pursue genetic testing which follows the NSW Health requirements for approval, publicly funded genetic testing may be available. Dr Hanna can refer you to one of the public general genetic clinics for assessment and/or testing. Although these clinics triage patients, there may be a wait of 6 months or more to be seen.

Genetic testing for inherited mutations usually involves a simple blood test or saliva collection. The cost of the testing depends on which gene or genes are tested and whether a full mutation search is required. The person in the family who is most likely to carry the inherited mutation is tested first and then, only if a mutation is detected, is testing offered to blood relatives. Costs range from $200 to over $2000. There is no obligation to have a genetic test.

+ What happens at subsequent appointments?

Any genetic test results are discussed and interpreted in the context of the family and patient.

The patient receives:

• Explanation of the results
• Information regarding the natural history of the condition
• Recommendations for surveillance
• Details of support groups
• Appropriate web-based information
• Discussion regarding implications to family members

+ What if no genetic change is identified?

If no genetic cause has been identified, however, remains likely, research teams may be able to take on the search for answers for your family.

+ My condition is so rare. Can you help me?

A Clinical Geneticist may be able to link you with patient and family groups, in Australia or abroad, who live with the same rare condition themselves or a family member. The support, advice and knowledge found in these groups are invaluable when dealing with a rare genetic disorder. We are also able to talk to your helath professional about your medical needs based on our knowledge of your genetic condition

+ What do all these genetic terms mean?

Head on over to our Glossary of Genetic Terms to get a better understanding of the terminology we use in the clinic.