scholarly journals A clinical laboratory's experience using GeneMatcher -- building stronger gene-disease relationships.

Author(s):  
Julie Taylor ◽  
Alka Malhotra ◽  
Nicole Burns ◽  
Amanda Clause ◽  
Carolyn Brown ◽  
...  

The use of whole-genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the search for novel disease genes and variants. GeneMatcher (GM) is designed to facilitate connections between researchers, clinicians, health-care providers and others to help in the identification of additional patients with variants in the same candidate disease genes. The Illumina Clinical Services Laboratory offers a WGS test for patients with suspected rare and undiagnosed genetic disease and regularly submits potential candidate genes to GM to strengthen gene-disease relationships. We describe our experience with GM, including criteria for evaluation of candidate genes, and our workflow for the submission and review process. We have made 69 submissions, 36 of which are currently active. Ten per cent of submissions have resulted in publications, with an additional 14 submissions part of ongoing collaborations and expected to result in a publication.

2016 ◽  
Vol 36 (3) ◽  
pp. 36-48 ◽  
Author(s):  
Kathleen M. Sacco ◽  
Thomas W. Barkley

Hereditary hemorrhagic telangiectasia is a rare, autosomal dominant genetic disease that causes abnormal growth of blood vessels and, subsequently, life-threatening arteriovenous malformations in vital organs. Epistaxis may be one of the initial clues that a patient has more serious, generalized arteriovenous malformations. Recommended treatment involves careful evaluation to determine the severity and risk of spontaneous rupture of the malformations and the management of various signs and symptoms. The disease remains undiagnosed in many patients, and health care providers may miss the diagnosis until catastrophic events happen in multiple family members. Prompt recognition of hereditary hemorrhagic telangiectasia and early intervention can halt the dangerous course of the disease. Critical care nurses can assist with early diagnosis within families with this genetic disease, thus preventing early death and disability.


2020 ◽  
Vol 36 (4) ◽  
pp. 148-156
Author(s):  
Aaron J. Lengel ◽  
Elise M. L. Carpenter ◽  
Andrew G. Azzi ◽  
Kristen L. DiDonato

Background: As clinical services expand in community pharmacies, access to patient information through a health information exchange (HIE) may be of increased benefit to patient care. Objectives: To identify perceptions and barriers to the use of HIE by high-performing clinical pharmacists within a grocery store chain and collect other health care provider perceptions of using HIE. Methods: Two web-based surveys consisting of multiple choice, select all that apply, and 5-point Likert-type scale questions were administered via email to Ohio pharmacists working in high clinical performing pharmacies and Ohio health care providers utilizing CliniSync, an Ohio-based HIE program. Outcomes measured included pharmacist perceptions of preparedness to participate in HIE, their relationship with patients and health care providers, and barriers to utilizing HIE. Provider outcomes included perceptions of relationships with patients, awareness of community pharmacy services, referral habits, and perceived benefit of a HIE. Results: Pharmacists tend to believe they have the skill (median 5, interquartile range [IQR] 1) and desire (median 5, IQR 1) to be a part of the HIE network. Pharmacists appear confident in their abilities to provide patient care as a part of HIE networks (median 4, IQR 1). While 66% of providers surveyed are aware of services provided by community pharmacists, 75% state that they do not refer patients to a pharmacy for those services. Conclusion: Implementing HIE into clinical pharmacy workflow and encouraging providers to use it to make patient health information available to pharmacists would provide additional information for pharmacists to review when providing clinical services in the community pharmacy setting, ultimately benefiting patient care.


PLoS ONE ◽  
2021 ◽  
Vol 16 (8) ◽  
pp. e0255390
Author(s):  
Zewdie Birhanu ◽  
Fira Abamecha ◽  
Nimona Berhanu ◽  
Tadesse Dukessa ◽  
Mesfin Beharu ◽  
...  

Background Successful health care and clinical services essentially depend on patients’ realization of ones’ rights, and health workers’ and facilities’ fulfillments and protections of these rights. However, little is documented about how patients and health workers perceive patients’ rights during care-seeking practices. Methods A qualitative study was conducted in four hospitals in Ethiopia through 8 focus group discussions with patients and 14 individual interviews with diverse groups of patients, caretakers, and 14 interviews with health workers. Participants were recruited through a purposive sampling method to meet the saturation of ideas about patients’ rights. The sampled patients, caretakers, and professionals were enlisted from various departments in the hospitals. The data analysis was assisted by ATLAS.ti 7.1.4 Results The study identified three major categories of healthcare rights (clinical, socio-cultural, and organizational), incorporating supporting elements of education, engagement, and empowerment. Study participants reported detailed rights the patients would have during hospital visits which included the right to timely access to care and treatment, adequate medications) with full respect, dignity, and without any discrimination. Patients widely perceived that they had the right to tell their illness history and know their illness in the language they can understand. It was also widely agreed that patients have the right to be educated and guided to make informed choices of services, procedures, and medications. Additionally, patients reported that they had the right to be accompanied by caretakers together with the right to use facilities and resources and get instructions on how to utilize these resources, the right to be protected from exposure to infections and unsafe conditions in hospitals, right to get a diet of their preference, and right to referral for further care. Nevertheless, there was a common concern among patients and caretakers that these rights were mostly non-existent in practice which were due to barriers related to patients (fear of consequence; a sense of dependency, feeling of powerlessness, perceptions of low medical literacy), health workers (negligence, lack of awareness and recognition of patient rights, undermining patients), and facilities’ readiness and support, including lack of guiding framework. Conclusions Perceived patients’ rights in the context of hospital visits were profoundly numerous, ranging from the right to access clinical and non-clinical services that are humanely respectful, fulfilling socio-cultural contexts, and in a manner that is organizationally coordinated. Nonetheless, the rights were not largely realized and fulfilled. Engaging, educating, and empowering patients, caretakers, and health care providers supported with policy framework could help to move towards patient-centered and right-based healthcare whereby patients’ rights are protected and fulfilled in such resource-limited settings.


2011 ◽  
Vol 93 (2) ◽  
pp. 95-103 ◽  
Author(s):  
YAN JIAO ◽  
FENG JIAO ◽  
JIAN YAN ◽  
QING XIONG ◽  
DANIEL SHRINER ◽  
...  

SummaryTo identify genetic loci that regulate spontaneous arthritis in interleukin-1 receptor antagonist (IL-1ra)-deficient mice, an F2 population was created from a cross between Balb/c IL-1ra-deficient mice and DBA/1 IL-1ra-deficient mice. Spontaneous arthritis in the F2 population was examined and recorded. Genotypes of those F2 mice were determined using microsatellite markers. Quantitative trail locus (QTL) analysis was conducted with R/qtlbim. Functions of genes within QTL chromosomal regions were evaluated using a bioinformatics tool, PGMapper, and microarray analysis. Potential candidate genes were further evaluated using GeneNetwork. A total of 137 microsatellite markers with an average of 12 cM spacing along the whole genome were used for determining the correlation of arthritis phenotypes with genotypes of 191 F2 progenies. By whole-genome mapping, we obtained QTLs on chromosomes 1 and 6 that were above the significance threshold for strong Bayesian evidence. The QTL on chromosome 1 had a peak near D1Mit55 and D1Mit425 at 82·6 cM. It may account for as much as 12% of the phenotypic variation in susceptibility to spontaneous arthritis. The QTL region contained 208 known transcripts. According to their functions, Mr1, Pla2g4a and Fasl are outstanding candidate genes. From microarray analysis, 11 genes were selected as favourable candidates based on their function and expression profiles. Three of those 11 genes, Prg4, Ptgs2 and Mr1, correlated with the IL-1ra pathway. Those genes were considered to be the best candidates.


1998 ◽  
Vol 11 (3-4) ◽  
pp. 481-491 ◽  
Author(s):  
Diane B. Paul

The ArgumentWhat are the aims of genetic services? Do any of these aims deserve to be labeled “eugenics”? Answers to these strenuously debated questions depend not just on the facts about genetic testing and screening but also on what is understood by “eugenics,” a term with multiple and contested meanings. This paper explores the impact of efforts to label genetic services “eugenics” and argues that attempts to protect against the charge have seriously distorted discussion about their purpose(s). Following Ruth Chadwick, I argue that the existence of genetic services presupposes that genetic disease is undesirable and that means should be offered to reduce it. I further argue that the economic cost of such disease is one reason why governments and health care providers deem such services worthwhile. The important question is not whether such cost considerations constitute “eugenics,” but whether they foster practices that are undesirable and, if so, what to do about them. The wielding of the term “eugenics” as a weapon in a war over the expansion of genetic services, conjoined with efforts to dissociate such services from the abortion controversy, has produced a rhetoric about the aims of these services that is increasingly divorced from reality. Candor about these aims is a sine qua non of any useful debate over the legitimacy of the methods used to advance them.


2019 ◽  
Vol 11 (5) ◽  
pp. 592-596 ◽  
Author(s):  
Nitin Seam ◽  
Jeremy B. Richards ◽  
Patricia A. Kritek ◽  
Danai Khemasuwan ◽  
Jennifer W. McCallister ◽  
...  

ABSTRACT Background Video is an increasingly popular medium for consuming online content, and video-based education is effective for knowledge acquisition and development of technical skills. Despite the increased interest in and use of video in medical education, there remains a need to develop accurate and trusted collections of peer-reviewed videos for medical learners. Objective We developed the first professional society-based, open-access library of crowd-sourced and peer-reviewed educational videos for medical learners and health care providers. Methods A comprehensive peer-review process of medical education videos was designed, implemented, reviewed, and modified using a plan-do-study-act approach to ensure optimal accuracy and effective pedagogy, while emphasizing modern teaching methods and brevity. The number of submissions and views were tracked as metrics of interest and engagement of medical learners and educators. Results The Best of American Thoracic Society Video Lecture Series (BAVLS) was launched in 2016. Total video submissions for 2016, 2017, and 2018 were 26, 55, and 52, respectively. Revisions to the video peer-review process were made after each submission cycle. By 2017, the total views of BAVLS videos on www.thoracic.org and YouTube were 9100 and 17 499, respectively. By 2018, total views were 77 720 and 152 941, respectively. BAVLS has achieved global reach, with views from 89 countries. Conclusions The growth in submissions, content diversity, and viewership of BAVLS is a result of an intentional and evolving review process that emphasizes creativity and innovation in video-based pedagogy. BAVLS can serve as an example for developing institutional or society-based video platforms.


Genomics ◽  
2020 ◽  
Vol 112 (1) ◽  
pp. 199-206 ◽  
Author(s):  
Xinjian Li ◽  
Jianwei Ye ◽  
Xuelei Han ◽  
Ruimin Qiao ◽  
Xiuling Li ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1163
Author(s):  
Manuel J. Wolf ◽  
Tong Yin ◽  
Guilherme B. Neumann ◽  
Paula Korkuć ◽  
Gudrun A. Brockmann ◽  
...  

This genome-wide association study (GWAS) aimed to identify sequence variants (SVs) and candidate genes associated with fertility and health in endangered German Black Pied cattle (DSN) based on whole-genome sequence (WGS) data. We used 304 sequenced DSN cattle for the imputation of 1797 genotyped DSN to WGS. The final dataset included 11,413,456 SVs of 1886 cows. Cow traits were calving-to-first service interval (CTFS), non-return after 56 days (NR56), somatic cell score (SCS), fat-to-protein ratio (FPR), and three pre-corrected endoparasite infection traits. We identified 40 SVs above the genome-wide significance and suggestive threshold associated with CTFS and NR56, and three important potential candidate genes (ARHGAP21, MARCH11, and ZNF462). For SCS, most associations were observed on BTA 25. The GWAS revealed 61 SVs, a cluster of 10 candidate genes on BTA 13, and 7 pathways for FPR, including key mediators involved in milk fat synthesis. The strongest associations for gastrointestinal nematode and Dictyocaulus viviparus infections were detected on BTA 8 and 24, respectively. For Fasciola hepatica infections, the strongest associated SVs were located on BTA 4 and 7. We detected 200 genes for endoparasite infection traits, related to 16 pathways involved in host immune response during infection.


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