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

Pediatric Quality & Safety
Stephanie L SantoroThomas Bartman

Abstract

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 sustaine...Continue Reading

References

Jul 14, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·William I Cohen
Jun 10, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mark A FergesonBarbara R Neas
Sep 30, 2009·Pediatrics·Brian G SkotkoUNKNOWN Down Syndrome Diagnosis Study Group
Sep 30, 2009·American Journal of Medical Genetics. Part a·Brian G SkotkoUNKNOWN Down Syndrome Diagnosis Study Group
Jul 27, 2011·Pediatrics·Marilyn J Bull, UNKNOWN Committee on Genetics
Sep 15, 2011·American Journal of Medical Genetics. Part a·Brian G SkotkoRichard Goldstein
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Erawati V Bawle
Feb 13, 2013·American Journal of Medical Genetics. Part a·Brian G SkotkoGil S Weintraub
Jul 23, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sarah RutherfordMelanie F Myers
Mar 31, 2015·American Journal of Medical Genetics. Part a·Gert de GraafBrian G Skotko
Feb 1, 2003·Journal of Genetic Counseling·Veronica CollinsRobert Williamson
Feb 3, 2016·The Journal of Pediatrics·Stephanie L SantoroRobert J Hopkin

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Citations

Jul 2, 2021·American Journal of Medical Genetics. Part a·April LehmanStephanie L Santoro
Aug 30, 2018·Pediatrics·Stephanie L SantoroBrian G Skotko

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