New year, new genes

We will start the new year in print with a selection of the latest research from the European Journal of Human Genetics. Middleton et al. get the ball rolling with a fresh look at the role of the Genetic counsellor in the United Kingdom [1] and a policy paper on the scope of the Genetic Counsellor and Consultant Clinical Geneticist roles [2]. Rumping et al. provide a new look at potential pathogenic mechanisms in Fraser syndrome [3].

Neurodevelopmental conditions are recognised as being challenging to obtain a molecular diagnosis for, given the genetic heterogeneity and varied clinical phenotypes [4, 5]. Van der Sanden et al. provide evidence that genome sequencing is a valuable first tier test; one reason being that it can identify copy number variants likely to be missed by exome sequencing [6, 7]. An additional benefit of genome sequencing (over exome sequencing) is that it can detect repeat expansions. Rafehi et al. identified an expansion causing myotonic dystrophy type 2 in an autism family, being associated with a mild myotonic dystrophy phenotype but not segregating with autism [8]. Genome sequencing also remains a powerful research tool. Boehm et al. utilise genome sequencing to identify a missense variant in PAX6 associated with diabetes [9]. Less sophisticated sequencing techniques still have a role to play. Mezad-Koursh et al. used routine clinical testing to identify mosaic biallelic variants in BCOR in an unusual eye phenotype [10]. Koopmann et al. utilised exome sequencing to identify LDB3 variants as a novel cause of cardiomyopathy [11]. A routinely available SNP-array was used by Fabian et al. to identify copy number variants associated with anorectal malformations [12]. They used this design to implicate novel genes in anorectal malformations including EXOC6B. Genomic testing can also be used to track founder mutational events within populations, in this case Canavan disease [13, 14]. Precise molecular diagnosis for neurodevelopmental conditions also facilitate phenotyping studies; such as this report of a novel case series of individuals with PURA variants [15]. This is important for clinical management.

The technical aspects of genetic testing may be challenging, but the counselling and family communication issues can be even more so. Young et al. review interventions to increase information sharing in families with genetic forms of cancer [16]. The review suggests that tailored genetic counselling with information follow up can increase information sharing on genetic risk within cancer families (BRCA, Lynch). Related to this issue of information sharing is the views of the general public on genomic testing. Sherburn et al. provide a scoping review on this; highlighting the diversity of views and opinions that could influence uptake of testing [17]. Using genomic technologies to expand genomic screening in the general population is controversial. Van den Heuvel et al. report a scoping review of societal implications of expanded carrier screening [18]. They identify concerns around medicalisation of carrier status, stigmatisation of carriers and equity of access [18, 19].

Author contributions

AM conceived and wrote this editorial.

Funding

No specific funding.

Competing interests

The author declares no competing interests.