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Recent Changes in Newborn Screening: What, When, How, and Why
Med-IQ Select Med-IQ Select

Recent Changes in Newborn Screening: What, When, How, and Why

Please choose a module from the options below. To receive credit and a certificate, you must complete all of the modules in this activity.

Welcome to this Med-IQ Select on the current state of newborn screening for lysosomal storage disorders, with a special focus on Pompe disease and MPS I. Med-IQ Select is a unique online educational offering that allows you to pick and choose the content you would like to view—in any order and at your convenience.

By clicking to continue below, you confirm that you have reviewed the CME information.

Focusing Example: Pompe Disease

Time to complete: 5 minutes

Focusing Example: MPS I

Time to complete: 4 minutes

Complete all of the above modules to earn credit;
0 out of 3 modules complete

Maximum Credits:

Released: 2/19/2020

Expires: 2/18/2021

Overview: This 15-minute, accredited CME publication reviews the current state of newborn screening (NBS) for lysosomal storage disorders (LSDs) and explores available methods for LSD analysis, focusing on Pompe disease (PD) and mucopolysaccharidosis type I (MPS I), the most recent LSDs added to the Recommended Uniform Screening Panel (RUSP).

CME Information:

Barbara K. Burton, MD
Professor of Pediatrics
Northwestern University Feinberg School of Medicine
Attending Geneticist
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, IL

Activity Planners
Amy Burdette, PhD
Manager, Educational Strategy & Content
Baltimore, MD

Rebecca L. Julian, MS, ELS
Senior Manager, Editorial
Baltimore, MD

Samantha Gordon
CME Specialist
Baltimore, MD

Kathryn Schaefer, MSN, RN, CPHRM
Senior Manager, Accreditation and Compliance
East Lansing, MI

Stephanie Wenick, MPhil
Wenick Communications, LLC
Chevy Chase, MD
Learning Objectives
Upon completion, participants should be able to:

  • Describe evidence-based benefits of NBS for LSDs
  • Identify specific LSDs, including PD and MPS I, using NBS in primary care and other appropriate settings

Target Audience
This activity is intended for pediatricians, primary care clinicians, nurse practitioners, and physician assistants who are on the front lines of diagnosing LSDs.
Statement of Need
LSDs can have devastating effects and cause irreversible damage if affected patients are not identified and properly managed early in the disease course. Indeed, identifying the LSDs PD and MPS I early on is essential for disease prognosis and management. Initiating treatment before irreversible damage has occurred can stabilize the patient and possibly delay disease progression. Pediatricians and family physicians are on the front lines of identifying patients with PD and MPS I. Therefore, it is imperative that these clinicians know which test to perform or when to refer patients for further testing and disease management.

Providership Statement
Provided by Med-IQ.

Accreditation/Designation Statements
Med-IQ is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Med-IQ designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nurse practitioners, physician assistants, and other healthcare professionals who successfully complete the activity will receive a Statement of Participation indicating the maximum credits available.

Medium/Method of Participation
This is a 0.25-credit CME activity. To receive credit, read the introductory CME material, complete all of the modules, and complete the evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.

Initial Release Date: February 19, 2020
Expiration Date: February 18, 2021
Estimated Time to Complete This Activity: 15 minutes

Disclosure Policy
Med-IQ requires any person in a position to control the content of an educational activity to disclose all relevant financial relationships with any commercial interest. The ACCME defines “relevant financial relationships” as those in any amount occurring within the past 12 months, including those of a spouse/life partner, that could create a conflict of interest (COI). Individuals who refuse to disclose will not be permitted to contribute to this CME activity in any way. Med-IQ has policies in place that will identify and resolve COIs prior to this educational activity. Med-IQ also requires faculty to disclose discussions of investigational products or unlabeled/unapproved uses of drugs or devices regulated by the US Food and Drug Administration.
Disclosure Statement
The content of this activity has been peer reviewed and has been approved for compliance. The faculty and contributors have indicated the following financial relationships, which have been resolved through an established COI resolution process, and have stated that these reported relationships will not have any impact on their ability to give an unbiased presentation.

Barbara K. Burton, MD
Consulting fees/advisory boards: Alexion, BioMarin, Horizon, Sanofi Genzyme, Shire
Fees received for promotional/non-CME activities: BioMarin
Contracted research: BioMarin, Homology Medicines, Inc., Moderna, Sangamo Therapeutics, Shire, Ultragenyx Pharmaceutical

The writer, peer reviewers, and activity planners have no financial relationships to disclose.

Statement of Evidence-Based Content
Educational activities that assist physicians in carrying out their professional responsibilities more effectively and efficiently are consistent with the ACCME definition of continuing medical education (CME). As an ACCME-accredited provider of CME, Med-IQ has a policy to review and ensure that all the content and any recommendations, treatments, and manners of practicing medicine in CME activities are scientifically based, valid, and relevant to the practice of medicine. Med-IQ is responsible for validating the content of the CME activities it provides. Specifically, (1) all recommendations addressing the medical care of patients must be based on evidence that is scientifically sound and recognized as such within the profession; (2) all scientific research referred to, reported, or used in CME in support or justification of a patient care recommendation must conform to generally accepted standards of experimental design, data collection, and analysis.
Med-IQ is not liable for any decision made or action taken in reliance upon the information provided through this activity.

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Acknowledgement of Commercial Support
This activity is supported by an educational grant from Sanofi Genzyme.

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