Parental experience with an ocular genetic counseling services in Saudi Arabia.

Abstract

Purpose: This study reports parental attitudes towards preimplantation genetic diagnosis (PGD) and their satisfaction with genetic counseling services offered by a territory eye care hospital in Saudi Arabia.

Methods: This was a cross-sectional study of 30 parents (either father or mother) of children affected by recessive genetic ocular disorders. Their basic knowledge of recessive genetic disorders, attitude toward PGD, and satisfaction with counseling services were assessed using structured telephonic interviews.

Results: Eighty percent of the participants understood the concept of recessive inheritance patterns and the effect of consanguineous marriages on raising the likelihood of giving birth to a child with genetic disorders. Forty-seven percent of parents understood the risk of having an affected future offspring. Sixty-seven percent of them mentioned that they would consider using preventive measures when conceiving next time. Seventy-three percent of participants stated that they would share the genetic test results with family members. Ninety percent of the parents were satisfied with the genetic counselor's ability to listen to them and the way the counselor explained the genetic information. There was a statistically significant association between parental willingness to share genetic test results with relatives and being given the opportunity to share information with their genetic counselor (P = 0.01). There was no association between the parental's knowledge and their willingness to consider using preventative measures in the next pregnancy.

Conclusion: Most parents had a basic understanding of recessive disease. However, they often struggled to comprehend the science and mathematical probabilities determining the recurrence risk in future pregnancies. This complexity makes it difficult for them to recall the information. Attitude toward PGD did not seem to be related with parent knowledge. A significant proportion of the parents expressed willingness to share their genetic test results with relatives, but some were hesitant due to fears of stigma. Most parents were satisfied with genetic counseling services.