Dr Luk Ho Ming, Consultant,
Clinical Genetics Service Unit,
HKCH:

When we consult a patient, we will draw a family tree. We can tell what type of genetic disease of the patient in most of the cases. For example, if family members or generations have similar conditions, probably are autosomal dominant. Then consider what type of disease is the patient suffering from and handle accordingly, like testing.

Connie Shih, Genetic Counsellor,
Clinical Genetics Service Unit,
HKCH:

I am a genetic counsellor. I see patients in clinics, ask their family history, draw a family tree, provide pre-testing counselling.

When there is a test result, we explain the report to them and conduct post-testing counselling. We act like a fortune teller, to interpret the test result for the patients. Then they can understand what “ancient fortune poems” are about.

Susie Su, Scientific Officer (Medical) (Genetic and Genomic),
Department of Pathology,
HKCH:

I am a bioinformatician. Patient’s blood will be collected in the laboratory, which will create a vast amount of raw data after sequencing. The data can be as large as 10G or even hundreds of gigabytes for each patient. If the genetic doctor looks at the raw data, he could not interpret the result for the patient.

Dr Feng Wu, Scientific Officer (Medical) (Genetic and Genomic),
Department of Pathology,
HKCH:

I feel like what I am doing is finding a needle in a haystack. We can collect loads of data from each patient, which is as thick as a guide book. We try to interpret via different ways. Finally, we get the useful information as "fortune poems" for colleagues' interpretation

Dr Jason So, Chief of Service,
Department of Pathology,
HKCH:

The genetic laboratory service of Department of Pathology at HKCH is led by pathologists. It is different from the old days. The service standard has been enhanced. Genetic laboratory service is important for either patients or families. It can provide an appropriate treatment or accommodate the daily needs and the possible complications after recovery will be crystal clear.

Dr Chloe Mak, Consultant,
Department of Pathology, HKCH:

Two genetic diseases are newly included in newborn screening. They are severe combined immune deficiency and spinal muscular atrophy which accord with international standard. Hope it helps the newborn babies to receive the best treatment and grow up healthy

Dr Timothy Cheng, Consultant,
Department of Pathology, HKCH:

With our understanding of the human genome improves, more tests are available For example, whole genome sequencing. Patients in need can undergo this testing.

Dr Luk Ho Ming:

Not every single doctor knows genetic diseases and rare diseases or knows them well. Therefore, we cannot lean on any person or specialty to understand all patients’ conditions and cases. Most of the time we need cross-specialty collaboration. The genetic service in HKCH has many cross-specialty clinics.

Dr Jason So:

Through an expanded scope of genetic testing, family members with suspected genetic conditions can have early diagnosis and have an appropriate treatment. Information is provided for family planning and helps them to make proper decision.