Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50-0.54), although the data are inconclusive regarding the module's non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.

Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation.

BACKGROUND: Array comparative genomic hybridisation (aCGH) represents a major advance in the ability to detect chromosomal imbalances (CI). A recent meta-analysis recommended aCGH for replacing karyotyping for patients with unexplained disabilities. However, favouring aCGH over karyotyping must be based on solid evidence due to the major implications of selecting a preferential diagnostic tool. METHODS AND RESULTS: A prospective study of 376 samples was conducted to assess the relevance of karyotyping after a first-tier aCGH in patients with unexplained disabilities. aCGH detected CI in 28.7% of the cases. Out of 376 patients, 288 had undergone parallel karyotyping testing: 69.8% (201/288) showed similar results for both aCGH and karyotyping. For patients with a CI detected by aCGH, 7.9% (7/89) showed similar results for both aCGH and karyotyping. Among 20 patients with abnormal karyotyping, 13 showed dissimilar results compared to aCGH analysis: 4 patients (1.4%) had balanced rearrangements and 9 patients (3.1%) had additional chromosomal anomalies unseen using aCGH. This rate of unseen chromosomal anomalies is far superior to the previously estimated 0.5-0.78% prevalence and affects 10.1% (9/89) of patients with CI detected by aCGH in the tested population. CONCLUSIONS: Since the clinical significance of CI identified by aCGH might be influenced by such discrepancies between the two methods, these may in turn have an impact on clinical diagnosis and patient counselling. It is proposed that each genetic laboratory should evaluate the relevance of karyotyping for all first-tier abnormal aCGH results in order to include the genomic (chromosomal) aspects of the aCGH findings in the diagnosis.

A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study.

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.