How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

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Clinical Guidelines
Authored By
Klapwijk JE, Srebniak MI, Go ATJI, Govaerts LCP, Lewis C, Hammond J, Hill M, Lou S, Vogel I, Ormond KE, Diderich KEM, Brüggenwirth HT, Riedijk SR
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Pediatric Medicine
Internal/Family Medicine
Speciality
Pediatric Medicine
Internal/Family Medicine
Book Detail
volume
100
ISSN
1399-0004
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ISSN
1399-0004
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true
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Additional Info
["Klapwijk JE, Srebniak MI, Go ATJI, Govaerts LCP, Lewis C, Hammond J, Hill M, Lou S, Vogel I, Ormond KE, Diderich KEM, Br\u00fcggenwirth HT, Riedijk SR","Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE","Journal Article; Research Support, Non-U.S. Gov't; Systematic Review","2021-12-01","Clinical genetics [Clin Genet] 2021 Dec; Vol. 100 (6), pp. 647-658. Date of Electronic Publication: 2021 Jun 30.","English","1399-0004","Genetic Association Studies*\/methods , Genomics*\/legislation & jurisprudence , Genomics*\/methods , Prenatal Diagnosis*\/methods , Genetic Predisposition to Disease*, Clinical Decision-Making ; Disease Management ; Female ; Health Policy ; Humans ; Practice Guidelines as Topic ; Pregnancy ; Uncertainty","Clinical Decision-Making, Disease Management, Female, Health Policy, Humans, Practice Guidelines as Topic, Pregnancy, Uncertainty, Genetic Association Studies methods, Genomics legislation & jurisprudence, Genomics methods, Prenatal Diagnosis methods, Genetic Predisposition to Disease","Clinical genetics","100"]
Description
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making.<br /> (© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
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