Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy

Abstract

Take-down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim.

Current Status of Genetic Counselling for Rare Diseases in Spain

“…The future of RD envisions a faster diagnosis thanks to high-throughput Next Generation Sequencing (NGS) technologies as well as artificial intelligence [ 60 ] with the intention of helping clinicians to shorten the time to diagnosis. Several studies demonstrate the utility of whole-exome (WES) [ 61 , 62 ] or whole-genome (WGS) [ 63 , 64 ] sequencing, as well as including other omics, such as RNA-seq or methylation profiles, increasing the diagnostic yield particularly on undiagnosed individuals with a suspected genetic condition [ 65 , 66 ]. Nevertheless, the improvement in diagnostic efficiency comes with several shortcomings, such as cost and time/analysis load [ 24 , 67 ] that are expected to be solved in the near future as technology improves in efficiency.…”

“…In addition, there are other limitations from the ethical point of view that might have a stronger impact on patients and are not so easy to tackle. Some of these are identification and interpretation of variants of uncertain significance (VUS), secondary and incidental findings, or equal access to genetic information, among others [ 66 , 68 , 69 ]. Furthermore, the fact that some patients have multiple disease-causing variants (polygenic diseases) and also several genetic diagnoses complicate the interpretation of genetic data, and thus, require expert geneticists (all three specialties: clinical geneticists, genetic counsellors and clinical laboratory geneticists) to provide enough information and support to patients [ 34 , 70 ].…”

“…However, no such document is produced specifically for RD, and thus, not all patients undergoing a genetic test for diagnostic purposes receive a Genetic Counselling pre-test and/or post-test session. In fact, this service should be of greater importance when accounting for WES/WGS as the possibility of identifying secondary findings and/or VUS is greater [ 65 , 66 , 72 , 73 ].…”

‘We Should View Him as an Individual’: The Role of the Child’s Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing

“…The first study was with parents of children (ages < 1-17) having such testing for conditions involving developmental delay (DD conditions) [16], the second with parents of children (ages 1-15) having sequencing for other complex conditions. In the latter study, all children were either expected to develop into competent adults, or well on the way already to reaching that stage in their development (non-DD conditions) [37]. All interviews were held shortly after the parents (where applicable together with the adolescent) had given consent to clinical exome sequencing for their child.…”

Australian human research ethics committee members’ confidence in reviewing genomic research applications

“…With the growing integration of genomics into clinical AQ1 AQ2 AQ3 AQ4 AQ5 medicine [ 1 ], the scale, scope and complexity of genomic research is inevitably increasing [ 2 ]. There are many ethical considerations associated with genomic research, including the nature of consent [ 3,4,5,6 ], procedures around the disclosure/non-disclosure of results [ 7,8,9,10,11 ], sample ownership and data storage/sharing [ 12,13,14,15 ], the shared nature of genetic information [ 16 ], and genetic discrimination with insurance policies [ 17,18,19 ]. Genomic research, therefore, requires robust ethical review.…”