Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service.

Although telegenetics as a telehealth tool for online genetic counseling was primarily initiated to improve access to genetics care in remote areas, the increasing demand for genetic services with personalized genomic medicine, shortage of clinical geneticists, and the expertise of established genetic centers make telegenetics an attractive alternative to traditional in-person genetic counseling. We review the scope of current telegenetics practice, user experience of patients and clinicians, quality of care in comparison to traditional counseling, and the advantages and disadvantages of information and communication technology in telegenetics. We found that live videoconference consultations are generally well accepted by both clients and clinicians, and these have been successfully used in several genetic counseling settings in practice. Future use of telegenetics could increase patients' access to specialized care and help in meeting the increasing demand for genetic services.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype. We aim to add to the current knowledge of the natural history of the "MEF2C haploinsufficiency syndrome" as well as of the differential diagnosis, clinical management, and genetic counseling in this diagnostically challenging group of patients.

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.

INTRODUCTION: Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues. MATERIALS AND METHODS: Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing. RESULTS: Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia. CONCLUSIONS: Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared.

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings of stippled epyphises, nasomaxillary hypoplasia and short distal phalanges in a male patient. Disease is caused due to the loss of arylsulfatase E activity and only 55 patients with genetically confirmed disease have been reported so far. In 60-75 % of all patients the mutation in ARSE gene is detected by sequence analysis and in further 25 % of patients Xp deletions or rearrangements are causative and may be identified by classical chromosome studies. We report on a male patient refered to clinical geneticist for congenital hearing loss and mild dysplastic signs, both phenotypic features being relatively unspecific and non suggestive of CDPX1 in first instance. Array comparative genomic hybridisation showed approximatelly 3 kb big deletion, spaning intron and exon 7 of arylsulfatase E gene located in Xp22.33. This explained the cause of hearing loss, being present in 26-89 % od CDPX1 patients, as well as additional non prominent skeletal characteristics described by geneticist in our patient - mild midface hypoplasia and mild brachytelephalangy. Reported case introduces different presenting clinical phenotype for CDPX1, emphasizing different expressivity in this disorder.

Content validity and inter-rater reliability of the Halliwick-concept-based instrument 'Swimming with Independent Measure'.

The Halliwick concept is widely used in different settings to promote joyful movement in water and swimming. To assess the swimming skills and progression of an individual swimmer, a valid and reliable measure should be used. The Halliwick-concept-based Swimming with Independent Measure (SWIM) was introduced for this purpose. We aimed to determine its content validity and inter-rater reliability. Fifty-four healthy children, 3.5-11 years old, from a mainstream swimming program participated in a content validity study. They were evaluated with SWIM and the national evaluation system of swimming abilities (classifying children into seven categories). To study the inter-rater reliability of SWIM, we included 37 children and youth from a Halliwick swimming program, aged 7-22 years, who were evaluated by two Halliwick instructors independently. The average SWIM score differed between national evaluation system categories and followed the expected order (P<0.001), whereby a ceiling effect was observed in the higher categories. High inter-rater reliability was found for all 11 SWIM items. The lowest reliability was observed for item G (sagittal rotation), although the estimates were still above 0.9. As expected, the highest reliability was observed for the total score (intraclass correlation 0.996). The validity of SWIM with respect to the national evaluation system of swimming abilities is high until the point where a swimmer is well adapted to water and already able to learn some swimming techniques. The inter-rater reliability of SWIM is very high; thus, we believe that SWIM can be used in further research and practice to follow the progress of swimmers.