| dc.description.abstract | Research indicates that not all families with an indication for referral to a clinical geneticist are actually referred. Gaining insights into the percentage of patients in need of a reference and those who are referred is crucial for the development of guidelines.
This study has thus far included six families of children referred for clinical genetic evaluation because of a developmental delay. We collected data on family history related to adult-onset oncological, cardiological, and neurological disorders at the time of intake or follow-up appointments with the clinical geneticist and via a questionnaire. These data and referral criteria were used and discussed to determine the indications for referral to a clinical geneticist.
Two of the six families (33%) included had an indication for referral to the clinical geneticist because of an oncological condition. There was no indication for a referral because of a neurological or cardiological condition (0%). Furthermore, two families who did not need a referral were referred to the clinical geneticist because of an oncological condition.
In conclusion, we have successfully set up and started a clinical study to investigate the proportion of families requiring a referral to a clinical geneticist. However, due to the low number of participants, no conclusions can be drawn at this time, but the patient inclusion will be continued. | |
