The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening

Area of Science:

• Medical Genetics
• Rare Diseases
• Genetic Counseling

Background:

• Pompe disease requires coordinated care, with genetic counseling being a key component for all patients.
• Understanding the role and establishing consistent practices for genetic counseling in Pompe disease is currently lacking.
• Genetic counseling aids families in comprehending medical information and making informed decisions regarding Pompe disease management.

Purpose of the Study:

• To provide guidance on genetic counseling for Pompe disease, particularly for those identified through newborn screening (NBS).
• To clarify the role of genetic counseling for families and healthcare teams involved in Pompe disease care.
• To establish a framework for standardized genetic counseling practices for patients and at-risk family members.

Main Methods:

• Expert consensus from the Pompe Disease Newborn Screening Working Group.
• Development of guidance for genetic counseling practices in the context of Pompe disease diagnosis and management.
• Focus on information dissemination regarding inheritance, genetic risks, treatments, and resources.

Main Results:

• The guidance aims to standardize genetic counseling for Pompe disease patients and families.
• It addresses special considerations, including early diagnosis of late-onset Pompe disease and implications of genetic risk assessment.
• The framework supports informed decision-making for patients, carriers, and at-risk relatives.

Conclusions:

• Genetic counseling is essential for comprehensive Pompe disease care, regardless of diagnosis method (NBS, clinical, prenatal).
• Standardized genetic counseling practices are necessary to support patients, families, and healthcare providers.
• This guidance provides a framework to improve understanding and implementation of genetic counseling for Pompe disease.