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

Abstract

An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient’s health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease. Although the need for genetic counseling after a positive newborn screen for Pompe disease is recognized, the role that genetic counseling plays for both families of affected patients and health care teams is not fully understood. Consistent best genetic counseling practices also are lacking. The guidance in this article in the “Newborn Screening, Diagnosis, and Treatment for Pompe Disease” supplement is derived from expert consensus from the Pompe Disease Newborn Screening Working Group. It is intended to help guide genetic counseling efforts and provide a clear understanding of the role for families or carriers of Pompe disease identified through NBS; explain special considerations (eg, diagnosis of late-onset Pompe disease before the appearance of symptoms) and the impact and implications associated with a diagnosis (eg, determination of genetic risk and carrier status and preconception counseling); and provide health care teams caring for patients with a framework for a standardized approach to genetic counseling for patients and at-risk family members.

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

“…After diagnosing Pompe disease, it is necessary to coordinate care by a team of expert clinicians to manage it ( 45 ). Genetic counseling is an imperative component of patients' care.…”

“…Genetic counseling is an imperative component of patients' care. It can be a source of the greatest-need essential information about the condition for patients' families ( 45 ). It is recommended to offer genetic counseling to all families with a diseased child and all adult-onset types through newborn screening, clinical diagnosis, or prenatal diagnosis.…”

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening

“…Pompe disease is an autosomal recessive disorder resulting from 2 pathogenic variants or deletions of the GAA gene, which consequently causes a functional deficiency in the lysosomal enzyme acid α-glucosidase (acid maltase, GAA ) . Pompe disease sometimes presents a diagnostic challenge because of low incidence, varying symptoms, and similarities to other disorders .…”

“…Newborn screening tests for a Pompe diagnosis include measurement of enzymatic activity by fluorometry, tandem mass spectrometry, or digital microfluidics with fluorometry, with pathogenic variant identification through molecular sequencing of the GAA gene as a second-tier screen (Table 2). The ACHDNC recommended addition of Pompe to the RUSP in 2013, after a treatment was approved . Enzyme replacement therapy with recombinant GAA is the standard of therapy for Pompe disease.…”

Equipe de enfermagem no cuidado à criança com doença de Pompe em terapia intensiva

“…Assim que o diagnóstico é definido, é fundamental o início de um tratamento com uma equipe de profissionais experientes na atenção à DP. Um aspecto essencial é o aconselhamento genético como um componente do cuidado e uma fonte de subsídios acerca da doença para pacientes e familiares, que ajudarão nas decisões atuais e futuras 6 .…”