Search Results (7)

Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities. Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children’s Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position. Data were organized using the “My Bibliography” tool on the National Center for Biotechnology Information website and a Research Electronic Data Capture database created to initially collect manuscripts published through 30 June 2020. A subsequent survey captured publications through 5 February 2024. Results: An amount of 52 of 120 (43%) GCs shared their curriculum vitae/papers. 992 unique publications were identified from 1986 to 2024. Since 2013, no less than 32 papers were published annually by Section members and no less than 10 GCs contributed to publications yearly. Impact factors typically averaged >5.0 per year. Areas of foci diversified considerably since 2015. Conclusions: Here, we establish that GCs indeed contribute to scholarly work as evidenced by the number of publications alone. The establishment of an academic home may have contributed, given publications increased concurrent to launching the Section, providing a model for organizing GCs at institutions nationally and internationally. Highlighting such achievements will foster the expansion of GC roles in the era of precision genomic medicine and therapy. Considering ways to support GCs towards expanding these activities is equally important. Full article

The delivery of genetic services in developing countries is faced with significant challenges, despite medical and technological advances globally. The Philippines, being an archipelago, faces even more challenges, with significant disparities in access to healthcare, and tertiary medical centers and specialists being concentrated in the major cities. The utilization of different networks for the integration of genetic services in the existing public health delivery system has been valuable. Using the well-established network of the national newborn screening program, genetic services have been successfully integrated into the delivery of healthcare, even at the grassroot level. Equitable access to healthcare, including genetic services, was highlighted and supported by the enactment of the Rare Disease Law in 2016. The support of the academe to assure the sustainability of services was evident in the establishment of a genetic counseling program to augment the work of a handful of clinical geneticists. Professional societies and support groups have been instrumental in identifying genetic conditions to be prioritized and lobbying for increased public awareness, leading to national programs and policies. This paper primarily discusses the value of networks in the delivery of genetic services, specifically newborn screening, programs for rare diseases, birth defects, and genetic counseling. Full article

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a “telegenetics” approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland. Full article

The onset of the COVID-19 pandemic caused significant changes in healthcare delivery. Telemedicine rapidly and unexpectedly became the primary vehicle for ambulatory management. As newborn screen (NBS) referrals require varying levels of acuity, whether telemedicine could be used as a safe and effective medium to return these results were unknown. We sent an online survey to metabolism providers internationally to investigate triage differences of abnormal NBS results during the COVID-19 pandemic. The survey compared personal practice for the periods of March–June 2019 and March–June 2020. Responses were received from 44 providers practicing in 8 countries. Nearly all (93%) practiced in areas of widespread SARS-COV-2 community transmission during spring 2020. There was a significant expansion of telemedicine use for NBS referrals at the onset of the COVID-19 pandemic (OR: 12, 95% CI: 3.66–39.3, p < 0.0001). Telehealth primarily replaced in-person ambulatory metabolism visits. The increased frequency of virtual care was similar across NBS analytes. Providers found telehealth for NBS referral equally efficacious to in-person care. Institutional patient surveys showed no difference in satisfaction with provider communication, provider empathy, or appointment logistics. Our survey was limited by unprecedented disruption in healthcare delivery, necessitating further validation of telegenetics for NBS in the post-pandemic era. Nevertheless, our findings demonstrate that telemedicine is potentially a viable and practical tool for triaging abnormal NBS results. Full article

Healthcare providers around the world have implemented remote routine consultations to minimise disruption during the COVID-19 pandemic. Virtual clinics are particularly suitable for patients with genetic eye diseases as they rely on detailed histories with genetic counselling. During April–June 2019, the opinion of carers of children with inherited eye disorders attending the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust (MEH) were canvassed. Sixty-five percent of families (n = 35/54) preferred to have investigations carried out locally rather than travel to MEH, with 64% opting for a virtual consultation to interpret the results. The most popular mode of remote contact was via telephone (14/31), with video call being least preferred (8/31). Hence, 54 families who had received a telephone consultation mid-pandemic (November 2020–January 2021) were contacted to re-evaluate the acceptability of telegenetics using the Clinical Genetics Satisfaction Indicator and Telemedicine Satisfaction Questionnaire. Overall, 50 carers participated (response rate 93%); 58% of participants found teleconsultations acceptable and 54% agreed they increased their access to care, but 67.5% preferred to be seen in person. Patient satisfaction was high with 90% strongly agreeing/agreeing they shared and received all necessary information. Ocular genetics is well-suited for remote service delivery, ideally alternated with face-to-face consultations. Full article

Information on patients’ preferences is essential to guide the development of more efficient genomic counseling service delivery models. We examined patient preferences in the context of use of a post-test genomic counseling framework on patients (n = 44) with chronic disease receiving online test reports for eight different diseases and one drug-response result. We also explored patients’ disease risk awareness, recall of test report information, and confidence in knowing what to do with their test results. Prior to the post-test genomic counseling session, all participants viewed at least one test report; 81.6% of available test reports were reviewed in total. Participants requested more phone (36) than in-person counseling sessions (8), and phone sessions were shorter (mean 29.1 min; range 12–75 min) than in-person sessions (mean 52.8 min; range 23–85 min). A total of 182 test reports were discussed over the course of 44 counseling sessions (mean 4.13, range 1–9). Thirty-six (81.8%) participants requested assessment for additional medical/family history concerns. In exploring patient experiences of disease risk awareness and recall, no significant differences were identified in comparison to those of participants (n = 199) that had received in-person post-test genomic counseling in a parent study randomized controlled trial (RCT). In summary, a novel post-test genomic counseling framework allowed for a tailored approach to counseling based on the participants’ predetermined choices. Full article

Both the IRIS-DNS System and the PORTAL-DOORS System share a common architectural style for pervasive metadata networks that operate as distributed metadata management systems with hierarchical authorities for entity registering and attribute publishing. Hierarchical control of metadata redistribution throughout the registry-directory networks constitutes an essential characteristic of this architectural style called Hierarchically Distributed Mobile Metadata (HDMM) with its focus on moving the metadata for who what where as fast as possible from servers in response to requests from clients. The novel concept of multilevel metadata about metadata has also been defined for the PORTAL-DOORS System with the use of entity, record, infoset, representation and message metadata. Other new features implemented include the use of aliases, priorities and metaresources. Full article