Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.

The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and the Australian Capital Territory (ACT) for over a decade. As these services are separated geographically, the linkage engendered by the GIS facilitates the services to operate as a virtual state-wide service.

Genetic counselling issues in cystic fibrosis.

Cystic fibrosis is a chronic condition for which genetic testing offers much for the individuals affected in terms of an early diagnosis and offers timely additional information for families with regard to family planning and prenatal testing. Genetic counselling encompasses a range of clinical issues for families and forms a complementary resource for clinicians caring for people with cystic fibrosis. This review will discuss the range of genetic information readily available to patients and families through genetic counselling.

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present.