A clinical geneticist is a doctor who is experienced in working with children and adults. They will study your / your child’s medical problems and the family’s medical history to determine whether there is a genetic cause to explain the problems.
Most clefts happen as a one-off event in the family. In a small proportion of cases, the cleft may be genetic in origin – either running in the family or occurring as part of another condition (a syndrome). Your clinical geneticist will be able to determine this.
Finding a unifying diagnosis for your child’s problems and / or establishing the genetic cause for the cleft helps establish accurately the risk of recurrence of the cleft and other associated problems not only for the affected individual but also for other family members. In some cases, testing of a pregnancy for the cleft syndrome would become available. Other options such as pre-implantation genetic diagnosis and non-invasive prenatal testing / diagnosis may also be discussed.
The doctor will take a detailed history about your / your child’s problems. They will also take your family history and may sometimes ask for additional medical information about some family members. They will examine you / your child. Clinical photographs may be taken for diagnostic purposes.
The doctor will explain to you the need for genetic investigations if appropriate. The test involves obtaining a sample of blood from the affected child / patient. Parents’ blood samples may also be requested in order to complete the testing. Results of genetic tests can sometimes take up to 6 months to be back.
Further follow-up may be arranged in the clinic to discuss the results or to consider further genetic investigations.
Appointments usually take place in Children’s Outpatients at the John Radcliffe Hospital, during a clinic. Occasionally the clinic may be held at the Clinical Genetics Outpatients department at the Nuffield Orthopaedic Centre. This will be clearly stated on your appointment letter.
Appointments usually take place at Southampton Children’s Hospital.
The genetics department (Oxford Centre for Genomic Medicine) is active in research. The department has recruited several families to national projects such as the Deciphering Developmental Disorders (DDD) study and the 100,000 Genomes Project. This has enabled finding a genetic diagnosis for several cleft patients already. Although both these studies are closed for recruitment now, the data is still being analysed and results still being generated.