Journal of Community Genetics最新文献

Various challenges including cultural concerns, the shortage of Diné (Navajo) scientists and scientists with cultural competence to engage with Diné communities, and the need for rigorous policies regarding genetic research led to the establishment of a moratorium on genetic research within the Navajo Nation in 2002. Previous surveys with Diné interest holders highlighted ongoing uncertainty about lifting the moratorium and underscored the need for further community consultation and education. Deliberative democratic engagement has been an effective approach for exploring Indigenous community values regarding genomic research. To assess perspectives on genetic research and inform future policy, we conducted a two-day virtual deliberation with 17 research and healthcare professionals associated with the Navajo Nation, including Diné (n = 15) and non-Diné (n = 2) deliberants. Deliberants varied in their knowledge of genetics (n = 5 reported knowing "a lot"; n = 12 "a little bit"), and a majority (n = 13) were aware of the moratorium. Two overarching themes, "life and history experiences" and "values," emerged, reflecting how personal and professional backgrounds, alongside individual and collective standards, shaped deliberants' views on genetic research and its practices. Subthemes within these categories offered deeper insights into their perspectives. Although deliberants expressed caution regarding exploratory genetic studies, there was interest in using genetic research to advance individualized healthcare. Deliberants' concerns emphasized the need for a robust genetic research policy that prioritizes Diné culture, community interests, public health and wellbeing, and the sovereignty of the Navajo Nation.

Genetic diagnosis in a plethora of conditions is useful in clinical management of individuals and their families. The clinicians need to understand the underlying genetic etiology in undiagnosed cases to determine the appropriate clinical management. Lack of understanding and training in the different aspects of medical genetics is one of the major deterrents for efficient genetic evaluations in several cases in clinical practice. To address this issue, the Genetic Research Center initiated a one-month detailed training course for clinicians on various aspects of genetics to strengthen their clinical skills and capabilities for efficient genetic diagnosis. In the last five years, through annual workshops conducted by the center, 128 medical practitioners were trained. The information collected through written communication from the participants has been summarized. This report presents perceptions of participants about the need of the training course, feedback from the participants about this course and outcomes of the training course. This analysis supports the need for adequate training for medical professionals and further highlighted the benefits of such training programs in active patient management and for initiating research activities focused on understanding the underlying genetic etiology in several cases.

Congenital pediatric hearing loss can be linked to a genetic cause in about 60% of cases. Genetic testing (GT) for this condition can be complicated by the availability of blood draw services and the patient's amenability to this procedure. The primary objective of this study was to assess whether GT sample collection method influences the percentage of completed tests in pediatric patients with congenital, non-syndromic sensorineural hearing loss. This was a retrospective chart review of patients at a tertiary pediatric otolaryngology clinic who had GT ordered through blood draw from May 2022-April 2023 and patients who had GT ordered through buccal swab from June 2023-May 2024. Patients were offered a testing method based on availability at our institution during the time period studied. The primary endpoint was completion of GT. Additional data collected included demographic patient characteristics, average turnaround time for GT completion, and GT results. Each cohort had a GT completion percentage of approximately 93%. Almost twice as many patients had GT ordered via buccal swab (148/227) than blood sample (79/227: p < 0.05). There was no difference in GT results between cohorts. The observed similarities in GT completion of the cohorts in this study suggests that barriers to GT completion may not be the sample type alone, but rather a more complex set of factors that may affect family decision-making.

Non-invasive prenatal testing (NIPT) is well established for detecting common autosomal aneuploidies. Its application to sex chromosome aneuploidies (SCAs), microdeletion/microduplication syndromes (MMSs), and single-gene disorders (SGDs) is expanding, yet opinions of genetic counselors on these indications remain variable. A cross-sectional web-based survey was conducted between October and December 2024 among 51 practicing genetic counselors across 14 countries. The 18-item questionnaire assessed perceived utility, analytic accuracy, and clinical appropriateness of NIPT for SCAs, MMSs, and SGDs. Responses were summarized using descriptive statistics, and ordinal logistic regression evaluated associations with demographic factors. Perceived utility was highest for SCAs (86% agreement), followed by SGDs (80%) and MMSs (67%). Confidence in test accuracy was lower, particularly for MMSs (55%). Routine use of NIPT for SCAs was supported by 88% of respondents. For SGDs, 47% endorsed routine use, while 45% recommended use only in specific contexts. Professional experience significantly predicted willingness to recommend NIPT for SGDs (OR = 1.15 per year, p = 0.017), independent of age or sex. Genetic counselors strongly support SCA screening and show conditional enthusiasm toward MMS and SGD testing. Experience-driven variation highlights the need for continued education, stronger validation data, and targeted policy development.

The mainstreaming of genomic medicine requires that non-genetics physicians take on responsibility for genomic medicine tasks. However, previous studies indicate that physicians without formal competence in genetics often lack the experience, knowledge and means to do so. This study assessed the current practice of genomic medicine among Swedish non-genetics physicians (n = 133) using a survey designed by McClaren et al. (McClaren et al. 2020). 67.7% of respondents had been in contact with their regional genetics services during the last year, a majority of which having been so at least monthly. Somewhat fewer, 57.1%, had ordered a gene panel, exome or whole genome during the last year. About a third reported that financing can be a barrier to ordering tests. Only 37.6% reported feeling sufficiently prepared for working with genomic medicine in general, with greatest confidence levels found for taking the medical history. Only a third of participants expected that further developments within genomic medicine will affect their own ways of working. In comparison with previous Australian and UK studies using the same survey, Swedish physicians have more contact with regional genetics services, whereas proportions ordering tests and feeling sufficiently prepared for working with genomic medicine are comparable. Interestingly, Swedish physicians seem less prepared to take on increased responsibilities for genomic medicine than their international peers. We encourage researchers in other countries to use the same survey to allow for further international comparisons to inform policy.