Clinical Genetics

Introduction

The Department of Clinical Genetics of the Hong Kong Children's Hospital is the first clinical genetics unit under the Hospital Authority. Our team consists of specialist in Genetics and Genomics (Paediatrics), paediatricians, nurses, genetic counsellors and bioinformaticians. We work closely with other clinical departments to provide high-quality and integrated multi-disciplinary care. To dovetail with the latest development of genomic medicine in Hong Kong, the services previously provided by the Clinical Genetic Service (CGS) of the Department of Health has been transferred to our department since 1 July 2023, with a view to enhancing multi-disciplinary care for patients and families affected by genetic diseases.

HKCH is also a partnering centre of the Hong Kong Genome Project. We are responsible for recruiting suitable patients and their families to join this research project.

Scope of Services

Genetic Counselling Services

Our Genetics and Genomics Clinic provides comprehensive clinical assessment and genetic counselling services to families with suspected or confirmed genetic or genomic conditions (including pregnant couples, children and adults). We serve to conduct investigation and diagnosis on genetic diseases and rare disorders and provide genetic counselling. The goal is to help patients or families with a genetic disease or a rare disorder to understand the hereditary nature, mode of inheritance, magnitude of the risk of occurrence within the family, and means of prevention.

We accept referrals from public hospitals and the private sector. We also provide consultation to HKCH patients under the care of other specialties.

Case conferences are held among clinicians, nurses, genetic counsellors and bioinformaticians before clinic sessions to review patient's condition and determine further management. For patients with complex medical problems or requiring multi-specialty intervention, joint specialty clinics are set up to provide coordinated service on the care of individual patients and families.

Genetic Screening Services

Our Genetic Screening Clinic operates the Newborn Screening Programme for all newborn babies delivered at hospitals under the Hospital Authority. The programme screens for glucose-6-phosphate dehydrogenase (G6PD) deficiency and congenital hypothyroidism.

Babies with uncertain or abnormal screening results will be followed up by Genetic Screening Clinic. Follow-up testing, assessment and counselling are conducted at the Genetic Screening Clinic. If indicated, we will refer the babies to paediatricians for further investigations and management.

Patient Education Leaflets

Genetic Counselling Services

Genetic Screening Services

Patient Education Video