Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction.

Background: Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for further research regarding alternate methods of GC service delivery and implementation.

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Genetic isolates provide unprecedented opportunities to identify pathogenic mutations and explore the full natural history of clinically heterogeneous phenotypes such as hearing loss. We noticed a unique audioprofile, characterized by prelingual and rapid deterioration of hearing thresholds at frequencies >0.5 kHz in several adults from unrelated families from the island population of Newfoundland.

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.

Patients' perceptions of inconclusive results have been previously investigated in cancer genetics. The differences in how patients recall and interpret an uninformative test result compared to a known pathogenic result can affect medical decisions post disclosure. However, there is little to no data available on patients' interpretation and perception of uninformative genetic results in inherited heart disease.

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome.

We report the case of a woman who pursued direct access genetic testing and then presented with concerns regarding a positive test result for Long-QT syndrome. Although the result ultimately proved to be a false positive, this case illustrates that costs associated with follow-up of direct access genetic testing results can be non-trivial for both the patient and for health care systems. Here we raise policy questions regarding the appropriate distribution of these costs.