Next generation of free? Points to consider when navigating sponsored genetic testing.

Genetics has been integrated into patient care across many subspecialties. However, genetic and genomic testing (GT) remain expensive with disparities in access both within Canada and internationally. It is, therefore, not surprising that sponsored GT has emerged as one alternative. Sponsored GT, for the purpose of this document, refers to clinical-grade GT partially or fully subsidised by industry. In return, industry sponsors-usually pharmaceutical or biotechnology companies-may have access to patients' genetic data, practitioner information, DNA and/or other information. The availability of sponsored GT options in the Canadian healthcare landscape has appeared to simplify patient and practitioner access to GT, but the potential ethical and legal considerations, as well as the nuances of a publicly funded healthcare system, must also be considered. This document offers preliminary guidance for Canadian healthcare practitioners encountering sponsored GT in practice. Further research and dialogue is urgently needed to explore this issue to provide fulsome considerations that one must be aware of when availing such options.

Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome.

Mutations in the cyclin-dependent kinase inhibitor-2A (CDKN2A) gene have been associated with a number of malignancies, most notably cutaneous malignant melanoma (CMM). Mutations in this gene have also been associated with pancreatic cancer and breast cancer, as well as astrocytomas and other nervous system tumors (NST). Among NST, rare solitary internal neurofibromas have been reported, but multiple cutaneous neurofibromas have only been described in two families. In the first family, the affected individuals all carried a heterozygous G>C mutation at the splice acceptor site of intron 1 resulting in skipping of CDKN2A exon 2, while the affected individuals in the second family had a deletion that encompassed the whole CDKN2A/CDKN2B/ANRIL locus. We now report on a proposita presenting with multiple biopsy-proven cutaneous neurofibromas and a solitary spinal neurofibroma found to have a deletion of 14 nucleotides in exon 2 of CDKN2A, providing further evidence that p14, p16, and/or ANRIL are specifically involved in the pathogenesis of neurofibromas as a feature of the familial atypical multiple malignant melanoma spectrum.

Effects of second language usage on genetic counseling training and supervision.

We conducted an exploratory study of the experiences of genetic counselors who have either trained or supervised in a second language to assess the relevance of this issue to genetic counseling training and supervision. Two hundred-thirty NSGC members, CAGC members and genetic counseling students completed the online questionnaire. Many of the respondents reported that training and supervision differed when another language was involved. Supervisors reported difficulty in assessing students' counseling skills and discomfort with an incomplete understanding of session content. Students described a greater focus on vocabulary at the expense of psychosocial dimensions. Despite this, most felt that using another language enhanced their training experience. As such, training programs might consider increasing support to these learners and supervisors by explicitly acknowledging the challenges they face, providing students with language tools to aid in their acquisition of basic skills and providing supervisors with new methods for assessing student counseling skills when using other languages.