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

遗传咨询 医学 疾病 新生儿筛查 基因检测 产前诊断 医疗保健 家庭医学 医学遗传学 儿科 怀孕 病理 遗传学 内科学 胎儿 经济增长 经济 基因 生物
作者
Andrea M. Atherton,Debra Day‐Salvatore
出处
期刊:Pediatrics [American Academy of Pediatrics]
卷期号:140 (Supplement_1): S46-S50 被引量:3
标识
DOI:10.1542/peds.2016-0280f
摘要

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.
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