Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.,Genetics in Medicine

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Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2020-07-28 , DOI: 10.1038/s41436-020-0912-4
Gemma R Brett _{1,

2} , Melissa Martyn _{2,

3,

4} , Fiona Lynch _{2,

4,

5} , Michelle G de Silva _{1,

2,

4,

5} , Samantha Ayres _{1,

5} , Lyndon Gallacher _{1,

2} , Kirsten Boggs _{5,

6,

7} , Anne Baxendale _{5,

8} , Sarah Schenscher _{5,

8} , Sarah King-Smith _{5,

9} , Lindsay Fowles _{5,

10} , Amanda Springer _{11,

12} , Sebastian Lunke _{1,

2,

5} , Anand Vasudevan ₁₃ , Emma Krzesinski _{11,

12} , Jason Pinner ₆ , Sarah A Sandaradura _{7,

14} , Christopher Barnett ₈ , Chirag Patel ₁₀ , Meredith Wilson ₇ , Zornitza Stark _{1,

2,

5}

Affiliation

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
The University of Melbourne, Melbourne, Australia.
Melbourne Genomics Health Alliance, Melbourne, Australia.
Murdoch Children's Research Institute, Melbourne, Australia.
Australian Genomics Health Alliance, Melbourne, Australia.
Sydney Children's Hospitals Network-Randwick, Sydney, Australia.
Sydney Children's Hospitals Network-Westmead, Sydney, Australia.
Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Adelaide, Australia.
Centre for Cancer Biology, SA Pathology, University of South Australia, Adelaide, Australia.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Monash Genetics, Monash Health, Melbourne, Australia.
Department of Paediatrics, Monash University, Melbourne, Australia.
Royal Women's Hospital, Melbourne, Australia.
Discipline of Child and Adolescent Health, University of Sydney, Sydney, Australia.

Purpose

To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Methods

Parents of critically unwell children who participated in a national ultrarapid genomic diagnosis program were surveyed >12 weeks after genomic results return. Surveys consisted of custom questions and validated scales, including the Decision Regret Scale and Genomics Outcome Scale.

Results

With 96 survey invitations sent, the response rate was 57% (n = 55). Most parents reported receiving enough information during pretest (n = 50, 94%) and post-test (n = 44, 83%) counseling. Perceptions varied regarding benefits of testing, however most parents reported no or mild decision regret (n = 45, 82%). The majority of parents (31/52, 60%) were extremely concerned about the condition recurring in future children, regardless of actual or perceived recurrence risk. Parents whose child received a diagnostic result reported higher empowerment.

Conclusion

This study provides valuable insight into parental experiences of ultrarapid genomic testing in critically unwell children, including decision regret, empowerment, and post-test reproductive planning, to inform design and delivery of rapid diagnosis programs. The findings suggest considerations for pre- and post-test counseling that may influence parental experiences during the testing process and beyond, such as the importance of realistically conveying the likelihood for clinical and/or personal utility.

中文翻译：

父母对其严重不适的婴儿和儿童进行超快速基因组检测的经验。

目的

探索父母对其严重不适的婴儿和儿童进行超快速基因组检测的经验。

方法

在基因组结果返回 12 周后，对参与国家超快速基因组诊断计划的严重不适儿童的父母进行了调查。调查包括自定义问题和经过验证的量表，包括决策遗憾量表和基因组学结果量表。

结果

发送了 96 份调查邀请，回复率为 57%（n = 55）。大多数父母报告说在测试前（ n = 50, 94%）和测试后（n = 44, 83%）咨询期间收到了足够的信息。关于测试的好处的看法各不相同，但大多数父母报告说没有或有轻微的决定后悔（n = 45, 82%）。大多数父母 (31/52, 60%) 非常担心未来孩子会再次出现这种情况，无论实际或感知到的复发风险如何。孩子获得诊断结果的父母报告了更高的授权。