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RESEARCH: Supplemental Newborn and Pediatric Screening: Insight into Consumers and Results

Supplemental Newborn and Pediatric Screening: Insight into Consumers and Results (link to poster)

Authors: Stephanie Ashley, MGC, CGC, Nori Williams, MS, CGC, Robin H. King, MS, CGC, Paldeep S. Atwal, MD

Introduction: In addition to traditional state-sponsored newborn screening programs, consumer-initiated (CI) supplemental newborn and pediatric genetic testing (SNPT) has recently become widely available. These supplemental tests include over 190 childhood onset genetic conditions; some also include pharmacogenetics genes. PWNHealth provides medical oversight for these test requests and post-test genetic counseling. Of note, children must be under age 10 and generally healthy for approval.

Purpose: We sought to describe the demographics of those pursuing SNPT, their motivation for testing, the proportion of positive results, and conditions identified.

Methods: A complete list of anonymized orders from March 1, 2018 – March 1, 2020, for supported companies providing CI SNPT via CLIA-approved labs, were pulled from PWNHealth’s internal records system and reviewed, including: self-reported gender, age, ethnicity, state of residence, indication for testing (selected from a drop down menu), family history, and pathogenic variants associated with a genetic syndrome.

Results: A total of 273 SNPT were requested, of which 76 (27.8%) were canceled or a sample was not submitted, and 197 (72.2%) were completed. Of those completed, 146 (74.1%) of patients were under the age of 1, with all under age 10. Caucasian/White was the most common self-reported ethnicity (79, 40.1%), and the majority reported residing in California (128, 65.0%). 187 (94.9%) selected their reason for testing as being “interested in additional screening for my child” and 10 (5.1%) selected “I have a family member(s) with an inherited condition and wonder if my child will inherit it.” 13 (6.6%) reported a family history of a condition on the panel, and 4 (2.0%) reported they are a carrier-couple of a condition on the test. Of those completed, 9 (4.6%) were positive for a genetic condition.

Conclusions: The majority of families reported that they are Caucasian/White and from California. Further research is needed to determine why more families living in states with less robust newborn screening programs are not yet pursuing SNPT. Appropriately, most families pursuing CI SNPT are ordering testing within the first year of their child’s life, as additional screening for their healthy child. Although less often, some are pursuing testing because they are aware of a genetic condition in their family or because the parents are carriers of a genetic condition. SNPT is identifying children with inherited genetic conditions, leading to early diagnosis and treatment interventions.


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