Subtitle:

Hospital Authority genetic counselling service

Daughter:

Dad, mom, where are we? Why are here so many people around? People of all ages.

Dad:

Darling, this is Genetic Counselling Clinic. A specialised clinic that provides genetic service. Anyone in need may receive genetic counselling and testing here.

Daughter:

Dad, mom, what is 'genetic testing'?

Parents:

(confused)

Nurse:

Little one, genetic testing examines if the DNA in your body is normal. It helps to diagnose, treat and prevent diseases.

Daughter:

What is DNA? Is it edible?

Nurse:

Seems you're very curious about our services. Let me explain it to you.

Daughter:

Yes, please!

Parents:

Sure!

Nurse:

DNA is also known as 'Deoxyribonucleic Acid'. It's an important genetic material in human body. That tiny piece of DNA contains genetic information is called 'gene'. 'Genome' refers to all the genetic materials in human body with over 20,000 genes in total. Half of them are from father. Another half are from mother. Everyone has a unique 'genome', it determines your features such as skin colour, height and the potential disease risks. Take it as an example, the 'genome' can be thought of as a library, genes are the books in the library, and DNA is the words in the books.

Daughter:

Miss nurse! Who needs to receive testing? And who determines it?

Nurse:

The doctors! If they believe it's useful for diagnosis, they'd choose the most suitable test for patients. There're five common purposes for testing. First, 'Diagnostic Testing' is for people with confirmed or suspected genetic diseases with an aim to help reveal the gene mutation and disease cause. Second, 'Predictive Testing' is for people with a family history of genetic conditions by identifying their risk of genetic diseases, especially for those without symptoms at present. The other is 'Carrier Status Testing' for couples planning for pregnancy or pregnant women, supporting them to understand the risk of having a child with a genetic condition. Also, 'Pharmacogenomics Testing' is to predict the adverse reactions and complications of specific medication and to help doctors to choose the best medication and treatment. The last one is 'Polygenic Risk Score', targets for people with specific genetic risks. It is to estimate an individual's genetic liability to a certain disease for further risk evaluation.

Dad:

There're so many purposes of genetic testing.

Nurse:

Indeed! Besides, the most common genomic testing methods are: 'Panel Testing', to examine a specific set of genes, just like checking the typos in some books. Whereas 'Whole Exome Sequencing' examines all genes, just like checking all the books in the library. Lastly, 'Whole Genome Sequencing' examines the entire genome, just as checking all the books, structure and infrastructure of the library.

Mom:

Miss Nurse, what should patients do after genetic testing?

Nurse:

After taking the test, patients need to wait for the report. Genetic testing report is the most complicated part as there're three possible results, namely 'disease-causing mutation found', 'no disease-causing mutation found' and 'variant(s) of uncertain clinical significance found'. Moreover, there might be 'incidental findings' that are irrelevant to the initial testing reason, for example, the identification of carriers of a recessive genetic disease. Since the report is quite complicated, we'll offer 'genetic counselling' before and after the test to support and help them understand the report. Genetic counselling at HA is currently offered by doctors, nurses or genetic counsellors. Before the test, we'll check patients' medical records and family history, answer their enquiries and suggest the most appropriate test and obtain patients' consent for testing. After the test, we'll explain the report to patients and elaborate how the results may affect them and their families. If needed, doctor will refer patients to other specialties for further follow-up. Meanwhile, we may invite other family members with potential risks to take genetic testing. Apart from genetic counselling clinic, the current public hospitals have set up Patient Resource Centres. You can browse our 'Smart Patient' webpage and other websites to know more about the relevant patient groups, and to obtain tailor-made information about the disease and psychological support.

Subtitle:

Websites providing information about the disease and psychological support: 'Smart Patient'and 'Rare Disease Hong Kong'。

Daughter:

I've learnt so much today!

Nurse:

In case of any questions, you can consult your attending doctor. They're more than happy to help.

Subtitle：

Special thanks to Department of Clinical Genetics of Hong Kong Children's Hospital