Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling

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.

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.

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.

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.

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.