Gene2Care
Referred here by your clinician?
This webpage provides important information for those referred here by their doctor or clinician.
Please find our participant information sheets and consent details for the GeneSTART rare disease registry and the GeneAdd undiagnosed disease program.
Go to GeneSTART
Go to GeneAdd
About Gene2Care
Gene2Care is a research integrated model of care that aims to improve how we care for children and their families living with diagnosed or suspected rare genetic conditions. It incorporates the GeneSTART rare disease registry and the GeneAdd undiagnosed disease program.
The family-centred model of care combines the efforts of clinical geneticists, genetic counsellors, rare disease nurses and other professionals across The Sydney Children’s Hospitals Network to help families access cutting-edge research in NSW, across Australia and internationally. This means families have opportunities to get a diagnosis as quickly as possible, as well as be kept updated with new advances in research and therapies as they arise.
Gene2Care aligns with the Australian Government’s National Strategic Action Plan for Rare Disease, Australia’s National Recommendations for Rare Disease Health Care, and is part of Rare Diseases NSW.
Funding for the setup of Gene2Care was kindly provided through Luminesce Alliance and the National Health and Medical Research Council (NHMRC).
GeneSTART registry
GeneSTART is a rare disease registry with embedded patient reported outcomes and experiences measures and utility studies.
The registry aims to reduce the isolation and uncertainty for those living with a rare disease, providing families with up-to-date information on their child’s condition and access to resources, other families and research. GeneSTART also enables families and clinicians to give feedback on clinical genetics services to help improve their service delivery.
It is currently available at the Sydney Children's Hospitals, Randwick and the St George Hospital.
Talk to your clinician
Your clinician will see if GeneSTART is relevant for you and your family.
Only after talking to your clinician will you be able to participate.
Read the participation information sheet
Information on participating in the GeneSTART registry is available below.
Provide consent
Consent for this registry is through a central digital consent portal. You will need to select the location that you were seen.
Go to Gene2Care consent portal
Ask questions
If you have questions, please contact the Gene2Care team (see below) or your clinician directly.
GeneAdd program
GeneAdd is an undiagnosed diseases program supporting patients with a suspected rare genetic condition who have not yet received a diagnosis to participate in research to reach a diagnosis as quickly as possible.
The program also provides an enabling framework for research to develop new treatments.
It is available across the Sydney Children's Hospitals Network, Westmead Hospital and St George Hospital.
Talk to your clinician
Your clinician will see if GeneAdd is relevant for you and your family.
Only after talking to your clinician will you be able to participate.
Read the participation information sheet
Information on participating in the GeneAdd undiagnosed disease program is available below.
Provide consent
Consent for this program is through a central digital consent portal. You will need to select the location that you were seen.
Go to Gene2Care consent portal
Ask questions
If you have questions, please contact the Gene2Care team (see below) or your clinician directly.
Collaborators and partners
Leadership team at Randwick
title
Dr (Elizabeth) Emma Palmer
title
Dr Lisa Ewans
- Dr David Mowat - Head, Centre for Clinical Genetics, Sydney Children's Hospital, Randwick
- Carolyn Shalhoub - Senior Genetic Counsellor, Centre for Clinical Genetics, Sydney Children's Hospital, Randwick
- Dr Rani Sachdev - Clinical Geneticist, Sydney Children's Hospital, Randwick
- Ryan Pysar - Research Genetic Counsellor, Sydney Children's Hospital, Randwick
- Rebecca Macintosh - Senior Genetic Counsellor, Sydney Children's Hospital, Randwick
- Rebecca Vink - Genetic Counsellor, Sydney Children's Hospital, Randwick
- Ella Zurita - Research Genetic Counsellor, Sydney Children's Hospital, Randwick
Contact
Enquiries
If you have enquiries, please reach out to your clinician.
If you were seen at Sydney Children's Hospital, Randwick, you can email SCHN-SCH-Gene2Care@health.nsw.gov.au.