Welcome to the April 2021 issue of EJHG. What can you learn from us this month? Well, Hochstenbach and colleagues provide evidence that, with the rise in use of genomic techniques, laboratories are losing competence in traditional cytogenetics [1]. This might negatively impact patient care. Phelan-McDermid syndrome is a classic chromosome deletion disorder, which can be diagnosed by cytogenetics. Morgan and co-workers define the speech and language phenotype, which will help guide clinical care [2]. The genomic technologies which have replaced cytogenetics are vital for identifying the aetiology of neurodevelopmental disorders. Balasubramanian et al. use exome sequencing to identify a cohort of individuals with SIN3A related disorder and define the phenotype [3]. Exome sequencing is also a powerful technique to identify novel causes of rare disease. In this issue, Bell and colleagues describe GIMAP6 as a novel immunodeficiency gene [4]. Liisa et al. use the same technique to study the cause of a common neurological disorder—vascular dementia—illustrating the applicability of exome sequencing across the disease spectrum [5]. Long read sequencing may help resolve variants not identified by traditional exome techniques (Gilisen), but may not be ready for clinical use just yet [6]. Despite our increasing understanding of how to use genomic techniques for diagnosis, functional validation of variants in experimental models is often required. This is illustrated by a report of ABL1 pathogenic variant clustering in the functional domain of the protein [7]. All of our advances in genomic testing are for naught if we cannot engage patients and families in using them. Genomic techniques can reveal a myriad of unanticipated findings, complicating the consent process. Harriet describes the new concept of “dynamic consent” in response to this [8]. Practical application of dynamic consent is considered by “CTRL” an online platform, designed to aid with the consent proves for people considering a genomic test [9]. We hope you enjoy this month’s issue, our social media channels are open for feedback and discussion (twitter @ejhg_journal).
Compliance with ethical standards
Conflict of interest
Salary support was received from UK NHS and University of Sheffield.
Footnotes
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
References
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