Online genetic counseling from the providers' perspective: counselors' evaluations and a time and cost analysis.

Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas, showing positive patients' and professionals' satisfaction. One economic analysis published thus far reported lower costs than in-person care.

Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care.

In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large travelling distances, generally showing positive patient outcomes. We think online counselling--including the use of supportive tools that are also available during in-person counseling--of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions.

Telemedicine uptake among Genetics Professionals in Europe: room for expansion.

Today's economic challenges and the changing landscape of clinical genetics are forcing us to consider alternative ways of providing genetic services, to comply with budget limitations and at the same time meeting the demands of increasing patient numbers and patient-centered care delivery. Telegenetics could be an effective and efficient way of counseling, but its use in Europe is not widely reported, nor is there evidence of international collaboration. We conducted an online survey among 929 genetics professionals, to explore the current availability and use of different telegenetics modalities in Europe.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals.

A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.

The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling.

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

Purpose: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice.

Methods: We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services.

Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information.

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

Background: Mutations in the gene encoding desmin (DES), an intermediate filament protein, underlie a heterogeneous phenotype, which is referred to as desmin-related myopathy (DRM). Right ventricular involvement including an arrhythmogenic right ventricular cardiomyopathy (ARVC)(-like) phenotype has occasionally been described in DES mutation-carrying patients.

Objective: To determine the effects of a DES missense mutation on the structure of different intercalated disk proteins, to evaluate right ventricular involvement in DES mutation carriers, and to establish the role of DES mutations in ARVC(-like) phenotypes.