Knowledge about genetics and trust in genetic testing in a mid-size city in Argentina / Conocimiento sobre genética y confianza en pruebas genéticas en una ciudad de tamaño medio en Argentina

ABSTRACT Public attitudes about genetics appear to depend on the local context. We analyzed survey responses obtained in 2015 from 293 residents of Luján, a city in the province of Buenos Aires, Argentina, who self-assessed their knowledge about genetics and their trust in genetic tests. The survey integrated a larger research project for which consenting adult participants shared demographic and genealogical information and provided saliva samples for genetic ancestry analyses. Participants reported little knowledge but high trust in genetic testing when questioned about knowledge and trust. Well-known media stories of DNA-based forensic genetic investigations to identify the victims of state repression during the military dictatorship may have contributed to the high self-assessment of their genetic knowledge expressed by some participants, regardless of educational attainment. Our analysis provides information that could be used as a baseline to begin unraveling the current level of public trust in genetics in a region of the Global South where genetic testing has become widespread, but people's knowledge of and trust in genetics remain poorly studied.

RESUMEN Las actitudes del público sobre la genética parecen depender del contexto local. Analizamos las respuestas de una encuesta suministrada en 2015 a 293 residentes de Luján, una ciudad de la provincia de Buenos Aires, Argentina, quienes autoevaluaron su conocimiento sobre genética y su confianza en las pruebas genéticas. La encuesta integraba un proyecto de investigación más amplio en el que los adultos participantes que dieron su consentimiento compartieron información demográfica y genealógica y proporcionaron muestras de saliva para un estudio de ancestría genética. Cuando se les preguntó sobre su conocimiento y confianza, los participantes informaron tener poco conocimiento sobre genética, pero mucha confianza en las pruebas genéticas. Historias muy conocidas de los medios de comunicación sobre investigaciones genéticas forenses basadas en el ADN para identificar a las víctimas de la represión estatal durante la dictadura militar pueden haber contribuido a la alta autoevaluación del propio conocimiento genético manifestado por algunos participantes, independientemente de su nivel educativo. Nuestro análisis proporciona información que podría utilizarse como base para comenzar a desentrañar los niveles actuales de confianza pública en la genética en una región del Sur Global donde las pruebas genéticas se han generalizado, pero el conocimiento y confianza de las personas sobre genética están poco estudiados.

Nuevo algoritmo de test genéticos para evaluación de trastornos del neurodesarrollo / New genetic testing algorithm for evaluation of neurodevelopmental disorders

Resumen En más de la mitad de los trastornos del neurodesarrollo se demuestra una etiología genética. La detección de estas variantes patogénicas tiene un impacto enorme en el curso de la enfermedad de estos pacientes. Permite la aceptación de la enfermedad por parte de los padres de los pacientes, emitir un pronóstico, adelantarnos a las futuras consecuencias de la enfermedad y, en cada vez más casos, instaurar un tratamiento o cambiar el ya establecido. Las técnicas genéticas que permiten estos diagnósticos etiológicos son muy jóvenes y por lo tanto todavía no totalmente asumidas por los neuropediatras. Incluso en las guías de diag nóstico de las diferentes sociedades científicas, sus algoritmos están desfasados por la rápida incorporación de nuevas técnicas. En este artículo se revisan las técnicas actuales así como los últimos avances en las mismas, que se están incorporando a la práctica clínica.

Abstract In more than half of neurodevelopmental disorders, a genetic etiology is demonstrated. The detection of these pathogenic variants has a huge impact on the course of the disease of these patients. It allows the acceptance of the disease by the parents of the patients, issue a prognosis, anticipate the future consequences of the disease and in more and more cases establish a treatment or change the one already established. The genetic techniques that allow these etiological diagnoses are very recent therefore not yet fully assumed by neuropediatricians. Even in the diagnostic guides of the different scientific societies, their algorithms are outdated by the quick incorpora tion of new techniques. This article reviews the current techniques as well as the latest advances in them that are being incorporated into clinical practice.

Hereditary coproporhyria

Abstract Hereditary coproporphyria (HCP) is a congenital, autosomal dominant disorder which occurs in approximately two to five people per million inhabitants, worldwide. It is a diagnostic challenge in patients with acute abdominal pain. We present the case of a 17-year-old adolescent who debuted with atypical abdominal pain with no clear etiology. Elevated urinary porphobilinogen was found, which was treated with hematin. A genetic study concluded that the adolescent was a heterozygous carrier of the c.717T>A; p.Cys239 pathogenic nonsense mutation in the CPOX gene, leading to a diagnosis of hereditary copropophyria. The available national literature has presented cases diagnosed with acute intermittent porphyria in patients with abdominal pain of unknown origin, without covering the existing classifications of hepatic porphyrias and without detailing the genetic diagnosis; thus, this case is a contribution to the national case studies. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950).

Genetic-molecular characterization in the diagnosis of primary immunodeficiencies

Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the terms "genetic evaluation" OR "whole exome sequence" or "whole genome sequence" OR "next generation sequence" AND "immunologic deficiency syndromes" OR "Immune deficiency disease" OR "immune deficiency" NOT HIV. Summary of the data: Knowledge of medical genetics is essential for the understanding of the principles of heredity and disease inheritance patterns, types of genetic variants, types of genetic sequencing and interpretation of their results. The clinical and immunophenotypic evaluation of each patient is essential for the correlation with the genetic variants observed in the genetic study of patients with primary immunodeficiencies. The discussion of the benefits and limitations of genetic tests should always guide the performance of genetic tests. Conclusions: There are many evident benefits of genetic analysis, such as the definitive diagnosis of the disease, family genetic counseling, and the possibility of a more adequate and accurate management. Cost, access and interpretation of genetic test results are limitations that need continuous improvement. The understanding of the benefits and limits of the several genetic assessment methodologies related to primary immunodeficiencies is essential to obtain more effective results from the sequencing.

Análisis de legibilidad de formatos de consentimiento informado para pruebas genéticas en México / Readability analysis of informed consent forms for genetic tests in Mexico

Resumen Introducción: Es importante conocer si el documento que ampara el consentimiento informado (CI) del paciente a quien se le realizan pruebas genéticas de laboratorio (PGL) es legible y comprensible. Objetivo: Analizar la legibilidad de documentos de CI para pruebas genéticas de laboratorio (PGL) en México. Métodos: Se analizó la legibilidad de 10 formatos de CI libres en internet utilizados para PGL mediante el programa Legible.es; se evaluó índice de Flesh, versión de Fernández Huerta, y la escala INFLESZ. Se contabilizó el número de sílabas, palabras, frases, párrafos y palabras raras, tiempo para leer el documento y años de escolaridad mínima para entenderlo. Resultados: Se identificó que 60 % de los formatos de CI analizados son poco legibles. En promedio, se contabilizaron 3290 sílabas, 1459 palabras, 124 frases, 58 párrafos y 52 palabras raras. El tiempo requerido para la lectura fue de siete minutos y la escolaridad mínima de seis años. Conclusiones: Los formatos de CI analizados tuvieron bajos índices de legibilidad y exceden el número recomendado de palabras. Proponemos un modelo de CI para PGL en México, que cumple con los índices de legibilidad para la correcta comprensión del documento.

Abstract Introduction: Knowing if the document that supports the informed consent (IC) granted by the patient who undergoes genetic laboratory tests is legible and understandable is important. Objective: To analyze the readability of IC documents for laboratory genetic tests (LGT) in Mexico. Methods: Readability of 10 free IC forms on the internet used for LGT was analyzed using the Legible.es program; the Flesh index, Fernández-Huerta version, and the INFLESZ scale were evaluated. The number of syllables, words, phrases, paragraphs and strange words, time to read the document and minimum years of education required to understand it were counted. Results: 60 % of the analyzed IC documents were found to have poor readability. On average, 3,290 syllables, 1,459 words, 124 sentences, 58 paragraphs and 52 strange words were counted. The time required for reading it was seven minutes and minimum level of education to understand it was six years. Conclusions: The analyzed IC forms for LGT have low readability rates and exceed the recommended number of words. We propose an IC model for LGT in Mexico that complies with appropriate readability indexes for a correct understanding of the document.

Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975–1987 / 의사학

Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started redrawing the ancient migratory history of human populations. A peculiarity of the Korean experience is that clinical physicians were the first experts using genetic data to theorize the historical origin of the respective population. This paper examines how South Korean physicians produced the genetic knowledge and discourse of the Korean origin in the 1970s and 1980s. It argues that transnational scientific exchange led clinical researchers to engage in global anthropological studies. The paper focuses on two scientific cooperative cases in medical genetics at the time: the West German-South Korean pharmacogenetic research on the Korean population and the Asia-Oceania Histocompatibility Workshop. At the outset, physicians introduced medical genetics into their laboratory for clinical applications. Involved in cooperative projects on investigating anthropological implications of their clinical work, medical researchers came to use their genetic data for studying the Korean origin. In the process, physicians simply followed a nationalist narrative of the Korean origin rather than criticizing it. This was partially due to their lack of serious interest in anthropological work. Their explanations about the Korean origin would be considered “scientific” while hiding their embracing of the nationalist narrative.

Forensic pathological analysis of 8 cases of sudden failure of non - hypertensive aortic dissection / 中国法医学杂志

Objective To investigate etiology and pathological morphological characteristics of sudden death caused by non-atherosclerotic aortic dissection. Propose accurate diagnosis of non-atherosclerotic aortic dissection by a proper method to autopsy. Methods A total of 8 cases of non-atherosclerotic aortic dissection from 2007 to 2015 were evaluated and analyzed in the present study. Results Non-atherosclerotic aortic dissection rupture is more common in men under the age of 40. It is lack of a typical clinical symptoms and had no marked history of hypertension. There are no related pathological changes of hypertension observed in autopsy. The pathological type is mainly DeBakey 1, in the main arteries,where it was found that decrease of elastic fibers and smooth muscle, cystic degeneration, inflammatory cell infiltration and other changes in media membrane. These changes were also found in the media arteries in 5 cases. Conclusion The etiology of non-atherosclerotic aortic dissection is complex, which is closely associated with many factors, such as genetics and inflammation. It affects the vessels systemically. In addition, systematic examination of large vessels is necessary as well as the examination of the middle arteries during autopsy. It is suggested that genetic tests are carried out for definite diagnosis.

Legal and Ethical Issues Involved in the Application of Molecular Genetics Examination in the Genomic Era / 中国医学伦理学

Advances in cell and molecular genetics have contributed to the development of human genetic re-search and personalized medicine. The enhanced capacity of the new DNA sequencing technologies, especially the high-throughput sequencing, is not only reducing the cost of sequencing but is also enabling some new questions. The potential utilization of whole exome sequencing ( WES) and whole genome sequencing ( WGS) is increasing in the research and clinical setting. And there is a potential for the genetic counselors' of recognition and reporting of incidental or secondary findings unrelated to the indication for ordering but of medical value for patient care, which inevitably create prominent legal and ethical issues. In addition, the internet increases the risk of private informa-tion and genetic information disclosure both for research and clinical practice. Moreover, these questions maybe more significant when commercial tests in multiplex genetic profiles are currently being provided to consumerswith-out the physicians' consultation, referred to as direct-to-consumer genetic tests ( DTCgt) . Existing laws, regula-tions and guidelines in China mostlycontrol and standardize technical aspects. Special regulations and rules for ge-netic arrangement and results explaining and interpretation remain needed; besides, the qualification of relevant personnel. The molecular genetic testing-related stakeholders include the providers, professional practitioners, and consumers &subjects, should realize these problems. Governments and professional organizations should produce policies, guidelines, and recommendations for the related stakeholders, such as testing providers andconsultants, to minimize the risks, and maximize the advantages of molecular genetic technologies, thus promote precision medi-cine and personalized therapy and disease prevention.

Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

Characterized reference materials (RMs) are needed for clinical laboratory test development and validation, quality control procedures, and proficiency testing to assure their quality. In this article, we review the development and characterization of RMs for clinical molecular genetic tests. We describe various types of RMs and how to access and utilize them, especially focusing on the Genetic Testing Reference Materials Coordination Program (Get-RM) and the Genome in a Bottle (GIAB) Consortium. This review also reinforces the need for collaborative efforts in the clinical genetic testing community to develop additional RMs.

Establishment and Management of Medical Genetic Clinic Based on Genetic Testing Network / 대한진단검사의학회지

BACKGROUND: With the progress of the Human Genome Project, genetic testing has become widely available and useful for the confirmation and treatment planning of various conditions. Additionally, the need for genetic counseling and consultation service has been increasing. We tried to establish and manage a medical genetic clinic within the department of laboratory medicine by using a genetic testing network. METHODS: An Inter-laboratory network has been organized between Soonchunhyang University Bucheon Hospital and Samsung Medical Center since January, 2005. As clinical laboratory physicians, we provide medical services ranging from genetic counseling to genetic testing. In this study we surveyed the need and demand for genetic consultation services using a questionnaire. RESULTS: Of the 30 cases that were requested to receive a genetic consultation, 24 were referred to the genetic clinic during the last 11 months. Of these, 18 underwent genetic tests. The request for genetic consultation came mainly from neurology, obstetrics, and pediatrics departments and the distribution of requested disease entities was very heterogeneous. Operating processes became more settled compared to the early period and specific work fields were secured in the genetic consultation services. Over 80% of the respondents replied that a medical genetic clinic was important and that public relations campaign should be continued. CONCLUSIONS: Establishment of a medical genetic clinic by using a genetic testing network has led to important changes that the department of laboratory medicine is most suitable for genetic testing and medical genetic consultations and laboratory physicians should be concerned in that field. A medical genetic consultation system based on extensive genetic information and knowledge could enhance opportunities for cooperation in genetic research.