Dr Lilian Downie1,2,3, Ms Michelle Cao1, Ms Antonia Howard1, Ms Libby Smith2, Dr Melissa Martyn2,4, Professor Valerie Sung2,3,5
1Victorian Clinical Genetics Service, Parkille, Australia, 2Murdoch Children’s Research Institute , Parkville , Australia, 3Department of Paediatrics, University of Melbourne , Parkville, Australia, 4Melbourne Genomics Health Alliance , Melbourne , Australia, 5Royal Children’s Hospital, Parkville , Australia
Biography:
Lil is a clinical geneticist at the Mercy Hospital for Women and the Victorian Clinical Genetics Service in Melbourne. She completed a PhD in the genetics of deafness and genomic newborn screening. This work resulted in her leading a successful application for federally funded genomic testing for childhood deafness.
Abstract
Background
A medicare item number for genomic sequencing to investigate childhood hearing loss was recently published in the medicare benefits schedule. Utilisation of the item number has been low, due to a lack of laboratories offering the test at the rebated price. Other challenges include, comfort of ordering genomic tests by non-genetics professionals and a lack of resources to support the process.
Methods
A genetic counsellor was immersed in hearing clinics at the Royal Children’s Hospital, Melbourne. This model of care enabled a ‘one stop shop’ for families with paediatrician, otolaryngologist and genetic counsellor available in a single visit. Resources to support paediatricians educating patients and ordering genetic tests were produced and piloted. The genetic counsellor was available during clinic and as required via an internal referral pathway. Interviews with clinicians and audit of referrals and tests ordered were used to evaluate the model of care.
Results
Genetic counsellor integration resulted in a significant reduction in wait time for patients to access a genetic health professional from 76 to 20 days. Paediatricians valued having ready access to genetic counsellor support. Most ‘strongly agreed’ that this improved their practice and provided unscheduled learning opportunities. They expressed a lack of capacity to mainstream genomic test ordering in the clinic without access to the resource of genetic counselling. The access to a genetic counsellor was highly utilized compared with use of the written and online resources.
Conclusions
Mainstreaming of genomic testing for hearing loss requires access to education and genetic health professional support.