FOR MEDICAL PROFESSIONALS
MEDICAL GENETICS IN CLINICAL PRACTICE
In the last few decades medical genetics has evolved and expanded from the field of medicine traditionally associated with dysmorphology and syndromology, to a discipline which is truly relevant and critical to every speciality of medicine.
Major strides in diagnostic genetic and genomic testing with wider availability and better affordability of next generation sequencing technologies (e.g. comprehensive gene panels or whole exome sequencing) are providing diagnoses for patient and families never possible before.
Ongoing research into gene therapies is providing hope of cure for genetic conditions, now and in the future.
DR LIANI OFFERS THE FOLLOWING SERVICES TO YOU AND YOUR PATIENTS
- Comprehensive diagnostic evaluations and counselling of patients and families with a personal or family history of a known, or suspected genetic conditions
- Recommendation of appropriate and cost-effective approaches to genetic and other special investigations in pursuit of a diagnosis
- Interpretation of genetic and genomic test results in the context of a patient’s clinical features (genotype-phenotype correlations)
- Management, surveillance, or advanced care plans for patients with genetic conditions or syndromes
- Comprehensive evaluation and care for patients with complex or multisystem conditions with a known or suspected underlying genetic cause or contribution within the multidisciplinary team.