Your child will be seen by one of our paediatricians specialising in genetics and metabolic diseases who will conduct a comprehensive review of his or her medical condition. Diagnosis and management are done depending on the condition. We will provide recommendations for testing or genetic counselling if appropriate.
Here are some frequently asked questions (FAQs) on what you need to know before scheduling an appointment and what to expect during your visit.
1. Who should see a doctor who specialises in genetics?
The following groups of individuals may require a genetic consultation:
- Individuals with more than one birth defect
- Individuals who have global developmental delay or intellectual disability of unknown cause
- Individuals who have autism spectrum disorder
- Individuals who have multiple unexplained health problems (e.g. failure to grow, recurrent infections)
- Individuals at risk of a genetic condition
- Individuals who have someone in their family with a genetic condition
- Ongoing pregnancy with a fetus with an abnormality identified on screening tests
- Couples who are worried about having another child with a genetic condition
- Children with cancer due to a suspected genetic cause
For adults with cancer suspected to be due to a genetic cause, please visit the adult cancer hereditary clinic.
2. Who needs to come for the appointment?
The individual suspected of having a genetic disorder should come for the appointment. This allows the specialist to assess his/her condition and discuss the appropriate follow up.
If the individual is below 21 years old, it is highly recommended for both parents to accompany him/her to the appointment. This is because parents often possess crucial information such as family history, birth history and early development, which can aid in the diagnosis and treatment process.
Additionally, discussions regarding genetic tests may arise during the appointment. These matters can be complex and involve costs which may require input from the parents or legal guardian.
3. What will happen at the genetics appointment?
The specialist will assess the individual and discuss the possible diagnosis, options to proceed with genetic testing and appropriate investigations.
The decision to undergo genetic testing can be complex with many considerations, including benefits and risks of testing, as well as implications of the results on the family and future generations. The discussion may also touch upon the potential impact on psychological well-being, insurance coverage and involvement of other family members.
If an individual decides to proceed with genetic testing, it can usually be done on the same day as the appointment.
4. How is genetic testing done?
Genetic testing typically involves collecting a blood sample. Saliva or cheek swab or other tests may be ordered by the doctor as well.
5. I am an adult, why is my genetics appointment at a children's clinic?
Our specialists see patients at the Khoo Teck Puat – National University Children's Medical Institute (KTP-NUCMI) clinic located at the National University Hospital. Although this is a children's specialist clinic, the specialists also see adults who require evaluation for possible genetic conditions.
6. How do I make an appointment with a genetic specialist?
Your doctor can refer you to the genetics clinic.
Alternatively, you can also email ktpnucmi_appt@nuhs.edu.sg.