Background: Although most physicians and genetic professionals are familiar with Down syndrome, many families do not have experience with Down syndrome before having a child diagnosed. The American Academy of Pediatrics has specific recommendations for genetic counseling and chromosome analysis for Down syndrome.
Local problem: The literature indicates that adherence to completion of appropriately timed genetic counseling is low at 31%. This study was initiated to determine our adherence rates and to improve if needed.
Methods: In the Down syndrome clinic at Nationwide Children's Hospital, a subspecialty clinic in the Division of Developmental and Behavioral Pediatrics, a genetic counselor was on-call but did not routinely attend. The intervention consisted of multidisciplinary care with the presence of a clinical geneticist. Statistical Process Control Charts and Fisher's exact test were used to determine the impact of the intervention.
Results: Our baseline rate of adherence to genetic counseling was similar to previous publications. Direct genetics involvement in the Down syndrome clinic in place of an on-call genetic counselor led to significant improvement in adherence to genetic counseling recommendations over a 6-month period from 35% to 62%, P < 0.001 and sustained for 6 months. Postclinic adherence rates and subanalyses by age showed similar results. The final postvisit adherence rate of 89% in February 2017 demonstrates continued improvement. Geneticist involvement allowed chromosome reports uploading and karyotype listing in electronic medical records.
Implications and lessons learned: Genetic counseling in newborns with Down syndrome is important, yet was often not received at Nationwide Children's Hospital before this study. Integrating a geneticist resulted in improvement. Implementing similar models at other institutions can ensure that the correct genetic testing is completed, results documented and families counseled appropriately.