Genetic Health Queensland (GHQ) sees patients with a personal/family history of a diverse array of conditions. Broadly speaking, referrals can be classified into one of four areas:
GHQ accepts referrals for babies and children with medical and developmental issues in whom a genetic cause is suspected or possible. Common conditions referred include: multiple birth defects; dysmorphisms; developmental delay or intellectual impairment; suspected syndromic or inherited disorders of the senses (hearing and vision); and genetic disorders of the muscles and nerves. We also see children with a known genetic diagnosis to determine if all associated morbidities have been addressed, to counsel families on the inheritance pattern, and to inform parents on the chance of recurrence in future pregnancies.
Like our paediatric population, we see adults with either known or suspected heritable conditions. Such individuals are frequently interested in the risks to their current or future offspring. We provide management advice for adults affected with a genetic condition. Finally, adult-onset disorders, such as certain neurodegenerative disease, do not become apparent until an older age. GHQ sees patients at risk developing signs of a heritable neurological condition in later life, to help the individual decide if they want to learn of their risks (presymptomatic genetic testing).
GHQ accepts referrals for couples planning a pregnancy and for those who are already pregnant. We are able to advise on the risks to potential offspring based on a personal or family history, and can help organise appropriate genetic testing.
GHQ runs a large familial cancer service. We see individuals with a personal or family history of cancer or tumours to determine if cancer is likely to have a heritable basis. We advise individuals on their risk of developing cancer in the future based on their family history and/or genetic status, and make recommendations regarding an appropriate cancer surveillance program.