scholarly journals Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

2006 ◽  
Vol 52 (4) ◽  
pp. 557-558 ◽  
Author(s):  
Egbert Bakker
Keyword(s):  
Genetic Testing ◽  
Dna Sequence ◽  
Gold Standard ◽  
Molecular Genetic ◽  
Genetic Tests

Characteristics and Quality of Mobile Applications for Prenatal Genetic Testing: An Assessment (Preprint)

2021 ◽  
Author(s):  
Ko-Lin Wu ◽  
Rebeca Alegria ◽  
Jazzlyn Gonzalez ◽  
Harrison Hu ◽  
Haocen Wang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pregnant Women ◽  
Mobile Applications ◽  
Visual Information ◽  
Mobile Apps ◽  
Mobile App ◽  
Educational Tool ◽  
Prenatal Genetic Testing ◽  
Genetic Tests

BACKGROUND Prenatal genetic testing is an essential part of routine prenatal care. Yet, obstetricians often lack the time to provide comprehensive prenatal genetic testing education to their patients. Pregnant women lack prenatal genetic testing knowledge, which may hinder informed decision-making during their pregnancies. Due to the rapid growth of technology, mobile applications (apps) are a potentially valuable educational tool through which pregnant women can learn about prenatal genetic testing and improve the quality of their communication with obstetricians. The characteristics, quality, and number of available apps containing prenatal genetic testing information was, however, unknown. OBJECTIVE To conduct the first review to identify, evaluate, and summarize currently available prenatal genetic testing mobile apps using a systematic approach. METHODS We searched both the Apple App Store and Google Play to find mobile apps containing prenatal genetic testing information. The quality of apps was assessed based upon criteria adapted from two commonly used and validated mobile app scoring systems including “MARS” and “APPLICATIONS”. RESULTS Sixty-four mobile apps were identified. Of these, only two apps were developed for a specific prenatal genetic test. All other apps were either pregnancy-related (95.3%) or genetics (1.6%) apps that provided prenatal genetic testing information. The majority of the apps (76.5%) were developed by commercial companies. The mean quality assessment score of the included apps was 13.5, which was equal to the average of possible theoretical score. Overall, the main weaknesses of mobile apps in this review included the limited number of prenatal genetic tests mentioned, incomprehensiveness of testing information, unreliable and missing information sources, absence of developmental testing with users (not evidenced-based), high level of readability, and lack of visual information, customization, and a text search field. CONCLUSIONS Our findings suggest that the quality of prenatal genetic testing-related mobile apps must be improved, and that pregnant women should be cautious when utilizing these mobile apps for prenatal genetic testing information. Obstetricians should carefully examine mobile apps before referring any of them to their patients for use as an educational tool. Both improving the quality of existing mobile apps, and developing new, evidence-based, high-quality mobile apps targeting all prenatal genetic tests should be the focus of mobile app developers going forward.

Genetic testing services in Europe: Quality assurance and policy issues

2001 ◽  
Vol 8 (2) ◽  
Author(s):  
Jean-Jacques Cassiman ◽  
Alastair Kent ◽  
Glenn Miller ◽  
Peter Miny ◽  
Erik Tambuyzer
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Science Fiction ◽  
Genetic Counselling ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Diagnostic Testing ◽  
Dna Profile ◽  
Patient Groups

The popular press is painting a picture of a future in which everyone has a detailed DNA profile of themselves drawn up. Such a vision of the future, however, is more science fiction than science practice. Predictive tests for complex diseases and cancer, eg colon cancer and breast cancer, are increasingly being used, and the related, and important, genetic counselling may become complex and comprehensive. Quality assurance in genetic testing for both cytogenetics and molecular genetic testing in Europe is also described. The quality of genetic testing in Europe could be substantially improved, and before a genetic test is accepted as a routine diagnostic or prognostic procedure it should have proven clinical utility. Pharmacogenetic testing looks at the efficacy of medicines and their side effects on patients and patient groups, and is increasingly being used to develop better targeted medicines. Genetic testing services and genetic counselling are structured in different ways in Europe, and organisation and reimbursement differ among European countries. Quality and non-directive genetic counselling must be made an integral part of quality genetic testing services, and be sufficiently reimbursed. European networking and identification of reference centres for quality-based diagnostic testing of genetic diseases should be encouraged. Reimbursement within Europe for sample forwarding should be adapted to allow samples to be tested in countries other than the country of origin of the patient.

scholarly journals Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations

2016 ◽  
Vol 62 (8) ◽  
pp. 1084-1095 ◽  
Author(s):  
Verena Haselmann ◽  
Wolf J Geilenkeuser ◽  
Simona Helfert ◽  
Romy Eichner ◽  
Svetlana Hetjens ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Quality Assessment ◽  
Error Rate ◽  
External Quality Assessment ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
External Quality ◽  
Sequence Variations ◽  
Therapeutic Decisions

Abstract BACKGROUND Suboptimal laboratory procedures resulting in genotyping errors, misdiagnosis, or incorrect reporting bear greatly on a patient's health management, therapeutic decisions made on their behalf, and ultimate outcome. Participation in external quality assessment (EQA) is a key element of quality assurance in molecular genetic diagnostics. Therefore, the Reference Institute for Bioanalytics has tried for 13 years to improve the quality of genetic testing by offering an EQA for different clinically relevant sequence variations. METHODS Within each of the biannual EQA schemes offered, up to 18 samples of lyophilized human genomic DNA were provided for up to 50 different molecular genetic tests. Laboratories were asked to use their routine procedures for genotyping. At least 2 expert peer assessors reviewed the final returns. Data from 2002 to 2014 were evaluated. RESULTS In total, 82 462 reported results from 812 characterized samples were evaluated. Globally, the number of participants increased each year along with the number of sequence variations offered. The error rate decreased significantly over the years with an overall error rate of 1.44%. Additionally, a decreased error rate for samples repeated over time was noted. Interestingly, the error rate showed a high difference depending on the locus analyzed and the method used. CONCLUSIONS Based on the evaluation of this long-term EQA scheme, various recommendations can be given to improve the quality of molecular genetic testing, such as the use of 2 different methods for genotyping. Furthermore, some methods are inappropriate for analysis of certain sequence variations.

scholarly journals Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

2018 ◽  
Vol 46 (1) ◽  
pp. 7-13 ◽  
Author(s):  
Puneet Jain ◽  
Danielle Andrade ◽  
Elizabeth Donner ◽  
David Dyment ◽  
Asuri N. Prasad ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Molecular Genetic ◽  
Public Funding ◽  
Diagnostic Procedures ◽  
Optimal Test ◽  
Genetic Tests ◽  
Gene Panels ◽  
General Guidance ◽  
Selection Of

AbstractMultiple genes/variants have been implicated in various epileptic conditions. However, there is little general guidance available on the circumstances in which genetic testing is indicated and test selection in order to guide optimal test appropriateness and benefit. This is an account of the development of guidelines for genetic testing in epilepsy, which have been developed in Ontario, Canada. The Genetic Testing Advisory Committee was established in Ontario to review the clinical utility and validity of genetic tests and the provision of genetic testing in Ontario. As part of their mandate, the committee also developed recommendations and guidelines for genetic testing in epilepsy. The recommendations include mandatory prerequisites for an epileptology/geneticist/clinical biochemical geneticist consultation, prerequisite diagnostic procedures, circumstances in which genetic testing is indicated and not indicated and guidance for selection of genetic tests, including their general limitations and considerations. These guidelines represent a step toward the development of evidence-based gene panels for epilepsy in Ontario, the repatriation of genetic testing for epilepsy into Ontario molecular genetic laboratories and public funding of genetic tests for epilepsy in Ontario.

scholarly journals Characteristics and Quality of Mobile Apps Containing Prenatal Genetic Testing Information: Systematic App Store Search and Assessment

10.2196/30404 ◽  
2021 ◽  
Vol 9 (10) ◽  
pp. e30404
Author(s):  
Ko-Lin Wu ◽  
Rebeca Alegria ◽  
Jazzlyn Gonzalez ◽  
Harrison Hu ◽  
Haocen Wang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pregnant Women ◽  
Mobile Apps ◽  
Mobile App ◽  
Evidence Based ◽  
Educational Tool ◽  
Prenatal Genetic Testing ◽  
Genetic Tests ◽  
App Store

Background Prenatal genetic testing is an essential part of routine prenatal care. Yet, obstetricians often lack the time to provide comprehensive prenatal genetic testing education to their patients. Pregnant women lack prenatal genetic testing knowledge, which may hinder informed decision-making during their pregnancies. Due to the rapid growth of technology, mobile apps are a potentially valuable educational tool through which pregnant women can learn about prenatal genetic testing and improve the quality of their communication with obstetricians. The characteristics, quality, and number of available apps containing prenatal genetic testing information are, however, unknown. Objective This study aims to conduct a firstreview to identify, evaluate, and summarize currently available mobile apps that contain prenatal genetic testing information using a systematic approach. Methods We searched both the Apple App Store and Google Play for mobile apps containing prenatal genetic testing information. The quality of apps was assessed based on the criteria adopted from two commonly used and validated mobile app scoring systems, including the Mobile Application Rating Scale (MARS) and the APPLICATIONS evaluation criteria. Results A total of 64 mobile apps were identified. Of these, only 2 apps were developed for a specific prenatal genetic test. All others were either pregnancy-related (61/64, 95%) or genetics-related (1/64, 2%) apps that provided prenatal genetic testing information. The majority of the apps (49/64, 77%) were developed by commercial companies. The mean quality assessment score of the included apps was 13.5 (SD 2.9), which was equal to the average of possible theoretical score. Overall, the main weaknesses of mobile apps in this review included the limited number of prenatal genetic tests mentioned; incomprehensiveness of testing information; unreliable and missing information sources; absence of developmental testing with users (not evidence based); high level of readability; and the lack of visual information, customization, and a text search field. Conclusions Our findings suggest that the quality of mobile apps with prenatal genetic testing information must be improved and that pregnant women should be cautious when using these apps for prenatal genetic testing information. Obstetricians should carefully examine mobile apps before referring any of them to their patients for use as an educational tool. Both improving the quality of existing mobile apps, and developing new, evidence-based, high-quality mobile apps targeting all prenatal genetic tests should be the focus of mobile app developers going forward.

Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans

2021 ◽  
Author(s):  
Dominika Bajguz ◽  
Noelle R. Danylchuk ◽  
Megan Czarniecki ◽  
James P. Selig ◽  
Rebecca Sutphen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Genetic ◽  
Health Plans ◽  
Prior Authorization ◽  
Regional Health ◽  
Genetic Tests

scholarly journals An Electronic Strategy for Eliminating Unnecessary Duplicate Genetic Testing

2019 ◽  
Author(s):  
Jacquelyn D Riley ◽  
Glenn Stanley ◽  
Robert Wyllie ◽  
Holly L Burt ◽  
Sandra B Horwitz ◽  
...  
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Cost Savings ◽  
Clinical Decision ◽  
Genetic Tests ◽  
Genetic Test Results ◽  
Electronic Interventions ◽  
The Impact ◽  
Electronic Intervention

Abstract Objectives To determine the impact of an electronic intervention designed to block duplicate constitutional genetic tests. Methods We constructed, implemented, and studied an electronic intervention that stopped duplicate genetic tests. The activation frequency, types of tests affected, and cost savings achieved with this intervention were determined. The frequency and justification of override requests were also studied. Results This intervention stopped 710 unnecessary duplicate genetic tests over a 3-year period and saved $98,596. The tests with the highest numbers of alerts were those used for screening presurgical or transplant patients and were commonly part of an order set or test panel. Most override requests were justified because of the lack of exclusion codes in the initial programming. Conclusions Electronic interventions that stop duplicate genetic testing, if properly constructed, can reduce waste, save health care dollars, and facilitate patient care by directing the provider to a test that has already been performed. 1.Duplicate molecular genetic testing, although generally unnecessary, occurs due to challenges in locating previous results. 2.Clinical decision support at order entry alerts providers to previous genetic test results and restricts repeat orders. 3.This Once-in-a-Lifetime electronic intervention supports a value-based health care model by reducing unnecessary genetic testing and associated costs.

Genetic testing for autistic spectrum disorders

2020 ◽  
pp. 78-79
Author(s):  
Е.А. Померанцева ◽  
А.А. Исаев ◽  
А.П. Есакова ◽  
И.В. Поволоцкая ◽  
Е.В. Денисенкова ◽  
...  
Keyword(s):  
Genetic Testing ◽  
American Academy ◽  
Autistic Spectrum Disorder ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
American Academy Of Pediatrics ◽  
Spectrum Disorders ◽  
Testing Algorithm

Согласно рекомендациям Американской академии педиатрии при постановке диагноза аутизм, следует направить семью на консультацию генетика и генетическое обследование. Однако оптимальный подход к алгоритму генетического обследования при выявлении расстройства аутистического спектра еще предстоит разработать. В рамках исследования было проведено сравнение выявляемости генетических факторов аутизма различными молекулярно-генетическими тестами. According to American Academy of Pediatrics recent guidelines, each family with a child diagnosed with autistic spectrum disorder should be reffered to a medical geneticist and offered genetic tests. However, an optimal genetic testing algorithm has yet to be developed. This study was conducted to compare abilities of different molecular-genetic methods to detect genetic factors of autistic spectrum disorders.

Breeding study of sea buckthorn (Hippophae rhamnoides L.) in the Institute of Horticulture, NAAS оf Ukraine

2020 ◽  
pp. 37-49
Author(s):  
V.V. Moskalets ◽  
◽  
T.Z. Moskalets ◽  
I.V. Grynyk ◽  
O.A. Shevchuk ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Cell Biology ◽  
Molecular Genetic ◽  
The State ◽  
Sea Buckthorn ◽  
National Academy Of Sciences ◽  
Scientific Cooperation ◽  
State Register ◽  
Academy Of Sciences

The authors present the results of the sea buckthorn breeding at the Institute of Horticulture (NAAS). The stages of the work have been analyzed – from studying and selecting the initial material in the conditions of the Polissya, Polissya-Lisosteppe and Lisosteppe ecotopes (2012-2016) to the successful targeted introduction to the Northern part of the Lisosteppe (2017-2019) and new forms have been characterized according to the traits valuable for economy and molec-ular genetic markers. The new forms of the researched crop taking into consideration the high indices of their productiv-ity,adaptivity to the unfavourable abiotic and biotic environmental factors and consumption quality of fruits for pro-cessing and making functionary products were entered officially into Genetic Fund of the Plants of Ukraine as con-firmed by the certificates of copyright and developed genetic passports. The list of these genotypes includes 1-15-1 (Nos-ivchanka, UA3700073), 1-15-8S (Mitsna, UA3700079), make form 1-15-6Ch (Aboryhen 6/11, UA3700080), 1-15-9 Ka-rotynna, UA3700082), 1-15-3 (Pamiatka, UA3700076), 1-15-8V (Soniachne siayvo, UA3700075), 1-15-11 (Lymonna, UA3700072), 2-15-73 (Morkviana, UA3700077), 1-15-5 (Adaptyvna, UA3700078), 1-15-8B (Osoblyva, UA3700083), 1-15-6 (Apelsynova, UA3700084) and forms 6A/11 (UA3700081), 1-15-5a (Sribnolysta 5a, UA3700074). The possibility of using 5 DNA markers to characterize genotypes of sea buckthorn bymeans of the molecular genetic markers was tested and evaluated in the framework of the scientific cooperation with the Institute of Cell Biology and Genetic Engineering of the National Academy of Sciences of Ukraine. It should be noted that the most polymorphic markers were HrMS025 and HrMS026. However, the marker HrMS014 was monomorphic, but appeared in all the samples, so it can be used as a reference. The best forms of sea buckthorn Adaptyvna (certificate №190899) and Osoblyva (certificate №190900) were included into the State Register of Plant Varieties Suitable for dissemination in Ukraine, and the cultivars of the univer-sal use Nadiina (applications №18299010), Oliana (applications №18299009) and Morkviana (applications № 20299001) and cv pollinator Obrii (applications №18299008) undergo the State strain test. The attention is concentrat-ed on the promising directions of the new sea buckthorn genotypes for the prior breeding and genetic investigations at the Institute of Horticulture (NAAS) and its network.

Sign in / Sign up

Export Citation Format

Share Document