2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Understanding Clinician needs and preferences with respect to returned NBS results.

Pdf Summary

The document discusses the understanding of clinician needs and preferences regarding returned newborn screening (NBS) results. It highlights the workflow and communication process involved in relaying NBS results to clinicians. The frustrations and pain points of the process are also mentioned, including issues with electronic health record (EHR) integration, high rates of false positives in NBS labs, and lack of engagement with families.<br /><br />The document suggests using technology to improve the workflow, such as creating a centralized portal for multiple providers to access and comment on NBS results. It also proposes using text messages to notify parents about the NBS process and providing them with information about the screened conditions.<br /><br />The preferences for an NBS genomic variant report are discussed, including the desire for accurate information about the predictive value of the screens and the inclusion of variant information like VUS (variants of uncertain significance) and pathogenic variants.<br /><br />The need to engage families and educate both primary care providers and parents about NBS disorders is emphasized to reduce provider burden and improve the dissemination of information.<br /><br />The document concludes by mentioning the diverse implementations of the NBS workflow across the country and the frustrations related to data communication and knowledge gaps. It also acknowledges the support received from various organizations for this research.<br /><br />Overall, the document emphasizes the importance of addressing clinician needs and preferences in order to improve the NBS process and provide better care for affected children and their families.

Asset Subtitle

Presenting Author - Karen Eilbeck, PhD; Co-Author - Nicole Ruiz-Schultz, PhD; Co-Author - Evan Christiansen, BS; Co-Author - Andreas Rohrwasser, PhD, MBA;

Meta Tag

Biochemical genetics

Education

Exome sequencing

Genetic Testing

Metabolic Disorder

NextGen Sequencing

Sequencing

Co-Author Nicole Ruiz-Schultz, PhD

Co-Author Evan Christiansen, BS

Co-Author Andreas Rohrwasser, PhD, MBA

Presenting Author Karen Eilbeck, PhD

Keywords

clinician needs

newborn screening

workflow

communication process

EHR integration

false positives

engagement with families

NBS genomic variant report

engaging families

NBS disorders