Disclosing to parents newborn carrier status identified by routine blood spot screening

 

Abstract

Background

Newborn blood spot screening programmes are designed to detect serious conditions affecting individuals, where early treatment can improve health. It is suggested that screening can improve the experience of diagnosis for parents. For example, without newborn screening, when a child with cystic fibrosis becomes symptomatic a period of uncertainty can arise prior to diagnosis. These potential advantages of screening need to be weighed against potential disadvantages of screening at individual and population levels. Some newborn screening programmes inadvertently identify newborn infants who, although not affected by the condition, carry a gene for it and can pass on that gene to their children; these are 'genetic carriers'. Knowledge of newborn carrier status can lead to: testing of parents and family members, and concern about possible affected future siblings should both parents be identified as carriers; the possibility of such testing revealing the putative father is not the biological father; concern about the child's future reproductive choices; and unjustified anxiety about the health of the carrier newborn.

There is an urgent need to develop clear guidance as to how to respond, with advances in technology fuelling the expansion of newborn blood spot screening and raised expectations of informed consent and disclosing test results. Depending on the condition for which screening is offered, options include: employing tests that do not identify carrier status, if available; identifying acceptable ways of disclosing carrier status; or identifying acceptable ways of not disclosing carrier status. These options are illustrated by screening programmes for sickle cell disorders and cystic fibrosis. Currently, there are no screening tests available for sickle cell disorders that do not identify carrier status. For cystic fibrosis, the policy choice is between an extended period of testing, and a screening result that is available sooner for most newborns, but inadvertently identifies carrier babies.

Objectives

The aim of this review was to assess the impact of disclosing to parents newborn carrier status inadvertently identified by routine newborn blood spot screening.

Search methods

We searched for reports addressing disclosing newborn carrier status to parents following newborn screening for sickle cell disorders and cystic fibrosis in: commercially available electronic databases (October 2002), specialist registers, online journals, online abstracts and conference abstracts. We also scanned the reference lists of included papers.

Selection criteria

Studies addressing the impact of disclosing carrier status using a soundly controlled trial or randomised controlled trial.

Data collection and analysis

Two researchers independently scanned titles and abstracts for relevance using the pre-specified inclusion criteria. Full reports of selected citations were then located and screened again for relevance by two researchers independently. At each stage, results were compared and discrepancies resolved by discussion.

Main results

We found no controlled trials about disclosing carrier status.

Authors' conclusions

There is a need to develop and evaluate the effects of interventions to support the disclosure of carrier status to parents following newborn screening.

 

Plain language summary

Disclosing to parents newborn carrier status identified by routine blood spot screening

No guidance is available on the best approach to disclosing to parents newborn carrier status inadvertently identified by routine newborn blood spot screening.

Newborn screening programs may inadvertently identify infants who are unaffected by serious in-born errors such as sickle cell disorders or cystic fibrosis, but who are genetic carriers. This will not affect the health of the child but may have important health, social and/emotional effects on the family. No trials were found about the impact or effects of disclosing newborn carrier status. There is an urgent need to develop clear guidance as how best to communicate this information effectively.

 

摘要

背景

在常規血斑篩檢確認後告知父母有關新生兒的帶因狀態

新生兒血斑篩檢是為了早期偵測並且早期治療嚴重的疾病，以改善新生兒的健康狀態而設計的。新生兒篩檢可以改善父母在小孩被診斷的經歷，舉例來說：如果沒有新生兒篩檢，當一個患有囊狀纖維化(cystic fibrosis，CF)的嬰幼兒在確定診斷之前，會有一段出現症狀卻不知診斷的不確定期。我們需要針對新生兒篩檢的潛在優點，跟個人以及群體的潛在缺點做一個權衡比對。有些新生兒篩檢計劃會不經意地確認出一些帶有特定疾病的基因，卻不會發病的嬰兒，因為他們會將這些基因遺傳給他們的下一代，所以被稱為基因帶因者(genetic carrier)。知道新生兒的帶因狀態，可能會引發下面各種問題：父母和家族成員的基因檢測；因為若父母雙方都是基因帶因者，未來再生的小孩可能會帶有2個缺陷的基因而發病，所以父母都應該做基因的檢測，以確認父母雙方是否為帶因者；新生兒的篩檢也可能會揭露小孩可能不是父親親生的可能性；帶因新生兒生育下一代的抉擇；以及對這帶因新生兒未來的健康產生莫名焦慮。儘管有進步的技術刺激了新生兒血斑篩檢的推廣，並提升了父母對知情同意和告知篩檢結果的期望，我們仍有急迫的需求針對如何回應去發展清楚明確的指導。根據提供篩檢的狀態，選項包括了：如果可能的話，採用不會確認出帶因狀態的檢驗；確認出告知父母帶因狀態的有效方法；或者確認出不告知父母帶因狀態的有效方法。以鐮狀細胞疾病(sickle cell disorders)和囊狀纖維化這兩種疾病為例，這些選項可以在篩檢計畫中得到說明。對於鐮狀細胞疾病，現在沒有避免發現帶因狀態的篩檢試驗。對於囊狀纖維化，政策是在延長檢驗期間與越早對大多數新生兒有效的篩檢結果之間作選擇，卻是在不經意中確認出是基因帶因嬰兒。

目標

這篇文獻回顧的目的是評估父母在得知常規新生兒血斑篩檢意外發現基因帶因後的心理衝擊

搜尋策略

單就鐮狀細胞疾病和囊狀纖維化這兩種疾病而言，我們搜尋了目標是設定在新生兒篩檢中告知父母帶因狀態的報告：坊間的電子資料庫 (2002十月) 、專家名冊、線上期刊、線上摘要，以及會議摘要。我們也瀏覽了已收錄論文的參考文獻清單。

選擇標準

許多研究的目標是設定在告知新生兒父母帶因狀態時的衝擊，研究方法則使用了健全的對照臨床試驗或是隨機對照臨床試驗。

資料收集與分析

2位研究員分別瀏覽了已經事先指定納入標準的所有相關標題以及摘要。接著，這2位研究員再次分別對所選定引文的詳細報告進行了關連性的確定與篩檢。在每一個階段，比較兩位研究員的判定結果，並對不一致之處進行討論來解決。

主要結論

我們沒有找到有關揭露帶因狀態的臨床對照試驗

作者結論

將來有需要發展新生兒篩檢後對父母說明帶因狀態的支持介入方式並評估其成效。

翻譯人

本摘要由成功大學附設醫院蔡佩蓉翻譯。

此翻譯計畫由臺灣國家衛生研究院 (National Health Research Institutes, Taiwan) 統籌。

總結

對於常規新生兒血斑篩檢時意外發現新生兒帶因後告知父母的最好辦法，目前還沒有任何有效指引。新生兒篩檢計畫可能會意外發現那些沒有表現出嚴重先天性異常卻又是帶因的嬰兒，所謂的嚴重先天性異常就像是鐮狀細胞疾病和囊狀纖維化這兩種疾病。這小孩本身的健康不會受到影響，卻可能會給家庭帶來重大的健康上、社會上和感情上的影響。目前還沒有任何的臨床試驗能提出有關告知新生兒父母帶因狀態的衝擊或效果。我們有迫切的需求去發展如何與新生兒父母有效溝通此資訊的明確指引。