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گسترش رقابت همراه با تحولات وسیع در عرصه تجارت و بانکداری، بسیاری از روش‌های سنتی را متحول ساخته و فضای رقابت را در بکارگیری فن‌آوری‌های نو حاکم نموده است. نظام بانکی نیز از این قاعده مستثنی نبوده و با پیدایش مفاهیم نوین در بانکداری، شیوه ارائه خدمات به مشتریان در اقصی نقاط جهان دچار تحول شده است. با توجه به شیوه‌های سنتی موجود در بانک‌های کشور و نارسایی این روش‌ها در ارائه خدمات جدید، ضرورت انجام این تحقیق با محوریت شناسایی موانع و راهکارهای توسعه بانکداری الکترونیک در کشور در چارچوب سند چشم‌انداز بیست ساله احساس گردید. این مقاله به دنبال شناسایی عمده‌ترین دلایل و موانع توسعه بانکداری الکترونیکی در کشور است و به همین منظور پس از نمونه‌گیری تصادفی طبقه‌ای متناسب، فرایند تحقیق اجرا گردید. عمده موانع شناسایی شده بنابر ادبیات موجود، موانع فرهنگی– اجتماعی، موانع مدیریتی، موانع مالی و موانع فنی– فن‌آورانه هستند که با انجام فرایند تحقیق فرضیه نخست مبنی بر وجود موانع فرهنگی – اجتماعی و فرضیه دوم مبنی بر وجود موانع مدیریتی در راه توسعه بانکداری الکترونیکی مورد تایید قرار گرفت. ضمن آن که فرضیه سوم این تحقیق مبنی بر وجود موانع مالی و همچنین فرضیه چهارم این تحقیق مبنی بر وجود موانع فنی- فن‌آورانه در راه توسعه بانکداری الکترونیکی در کشور مورد تایید قرار نگرفت.

Scientific Archives

Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos

This article deals with the cultural framing of the near sequencing of the human genome and its impact on the media coverage in Germany. It investigates in particular the way in which the weekly journal Die Zeit and the daily newspaper Frankfurter Rundschau reported this media event and its aftermath between June 2000 and June 2001. Both newspapers are quality papers that played an essential role in framing the human genome debate—alongside the Frankfurter Allgemeine Zeitung—which became the most prominent genomic forum. The decoding of the human genome prompted a huge controversy concerning the ethics of human engineering, research on stem cells and Preimplantation Genetic Diagnosis. The main aim of this article is to show how this controversy was structured by metaphor. The media coverage of the genome generated DNA-factishes—a neologism designating the ambivalence of something as fact (fait) and as a fetish (fétiche)—that mostly propagated images of a new DNA-scienticism or biological determinism. Mediated by cultural experiences, the human genome became a highly artificial and social construct of a ‘NatureCulture’.

Presymptomatic gene testing for familial amyloidotic polyneuropathies (FAP) is integrated in genetic counseling protocols common to other “Later onset, hereditary, autosomal dominant, no cure diseases” namely Huntington's Disease (HD) and Machado-Joseph disease (MJD). However, presymptomatic gene testing has specific clinical and therapeutic implications for FAP. Moreover, at least in Portugal, FAP ATTR Val30Met is a serious health problem. The most important implications are: the possibility of family planning including prenatal and preimplantation diagnosis; treatment with liver transplantation (TX); clinical follow-up according to protocols for early diagnosis which will allow patients to access therapy in useful time. This concept of useful time in FAP treatment is discussed. The growing possibilities of different therapeutic approaches are considered.In conclusion, presymptomatic gene testing for FAP may have a positive impact on candidate quality and prolongation of life, and on the future of disease studies.

Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population prefers a limited ancestry-based offer or a pan-ethnic expanded carrier screening panel that goes beyond the diseases that are frequent in their own population, and is offered regardless of ancestry. An online questionnaire was completed by 145 individuals from the Dutch Jewish community (≥18 years) between April and July 2014. In total, 64.8% were aware of the existence of ancestry-based carrier screening, and respondents were generally positive about screening. About half (53.8%) preferred pan-ethnic expanded carrier screening, whereas 42.8% preferred ancestry-based screening. Reasons for preferring pan-ethnic screening included ‘everyone has a right to be tested', ‘fear of stigmatization when offering ancestry-based panels', and ‘difficulties with identifying risk owing to mixed backgrounds'. ‘Preventing high healthcare costs' was the most important reason against pan-ethnic carrier screening among those in favor of an ancestry-based panel. In conclusion, these findings show that people from the Dutch Jewish community have a positive attitude regarding carrier screening in their community for a wide range of diseases. As costs of expanded carrier screening panels are most likely to drop in the near future, it is expected that these panels will receive more support in the future.

Risk Screening, Testing, and Diagnosis: Ethical Aspects

7 - Preconception and prenatal care

In addition to provocative questions about science policy, research on the human genome will generate important ethical questions in at least three categories. First, the possibility of greatly increased genetic information about individuals and populations will require choices to be made about what that information should be and about who should control the generation and dissemination of genetic information. Presymptomatic testing, carrier screening, workplace genetic screening, and testing by insurance companies pose significant ethical problems. Second, the burgeoning ability to manipulate human genotypes and phenotypes raises a number of important ethical questions. Third, increasing knowledge about genetic contributions to ethically and politically significant traits and behaviors will challenge our self-understanding and social institutions.

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complementary responses to the challenges presented by SMA. Even though a specific therapy for SMA is not currently available, a newborn screening test may allow the child to be enrolled in a clinical trial before irreversible neuronal loss occurs and enable patients to obtain more proactive treatments. Until an effective treatment is found to cure or arrest the progression of the disease, prevention of new cases through accurate diagnosis and carrier and prenatal diagnosis is of the utmost importance. The goal of population-based SMA carrier screening is to identify couples at risk for having a child with SMA, thus allowing carriers to make informed reproductive choices. During this study we performed two pilot projects addressing the clinical applicability of testing in the newborn period and carrier screening in the general population. We have demonstrated that an effective technology does exist for newborn screening of SMA. We also provide an estimate of the carrier frequency among individuals who accepted carrier screening, and report on patient's knowledge and attitudes toward SMA testing.

Fragile X syndrome is primarily due to a CGG repeat expansion found in the FMR1 X-linked gene. In a previous study, we conducted focus groups with women to assess their attitudes towards fragile X carrier screening. In this follow-up study, we conducted in-depth interviews of general population reproductive-age women who were identified as carriers. We explored their attitudes toward testing for carrier status of the fragile X mutation. These women underwent screening primarily to participate in a research project rather than in search of a diagnosis for specific symptoms. As such, these women were wholly unprepared for positive carrier results. Their responses about their results and carrier screening, in many cases, were being worked out over the course of the interview itself. The most salient finding of this work is the apparent lack of relevance of carrier status to these women. Many expressed that although the information could be relevant in the future, it is not relevant at this stage of their lives in terms of family planning (either with respect to having unaffected offspring or to premature ovarian failure) and personal relationships. Although issues of abortion seemed prominent in the focus groups, we found that carrier status did not have an apparent effect on women's attitudes about termination. We hypothesize this may be related to the fact that women had not processed their new carrier status and had not related it to previously-formed personal opinions. The findings of this work have significant implications for genetic counseling and population screening. Genetic counselors should be mindful that general population women may not recognize the immediate importance of their carrier status even when literature is provided and discussed prior to providing a sample. As part of comprehensive genetic counseling, counselors should identify the reproductive life stage of the woman receiving the new information and help her identify when this information would be more meaningful in her life. Counselors can assist in setting up a personalized road map with specific types of services that will be more applicable to the woman as her carrier status becomes more relevant.

In the 21st century, one of the major scientific challenges is to clarify and understand the significance of genetic variations in human health and diseases. Human genetic variations are usually correlated with the regular physiological function, so it has a tremendous boost for scientific researches and clinical testing in order to understand the effect of human genetic variations on human health. Related researches published after the Human Genome Project have enriched our knowledge of different human genetic variations and their evolutionary history and relationships. Many diseases are associated with clinical genetic variations which are prevalent in the genome. The phenotypic diversity, inherited diseases and susceptibility to complex diseases among individuals are considered to be caused by these genetic variations and non-genetic factors (e.g. environmental factors). Each genetic variation tends to have specific effects on human health. Most common genetic variations like SNPs, structural variations, chromosomal aberrations and genetic susceptibility are correlated with human health. The studies in this field will be greatly facilitated by deep understanding of the mechanisms by which mutations exert their dominant effects on human health. Moreover, understanding the effects of environmental factors and genetic variations including their interaction on human health are of the great challenging. Recent advances in technologies, especially the high-throughput sequencing technology and progressive development of related technologies, like next generation sequencing including whole genome sequencing, whole exome sequencing and targeted exome capture based sequencing have promoted scientific researches and clinical applications, which subsequently creates great improvement in the genetic diagnosis and treatment programs. Currently, the use of high-throughput technology on genetic testing has greatly expanded its scope from a single genetic disease screening to the detection of complex diseases and hereditary cancers. In present days, it is widely used in non-invasive prenatal testing, neonatal genetic testing, pedigree analysis and carrier screening. Simultaneously, technological improvement is also helping development in the field of pharmacogenomics and nutrigenomics. Genetic testing benefits research and clinical development greatly. Development and application of DNA sequencing technology has significantly promoted the study of human genetic variation and phenotypic differences relationship, and in particular to identify susceptible genes for complex diseases. Additionally, it has also contributed to studying the relationship between genetic variation and various drug ressistance or sensitivity, and the specific reactions of individuals to environmental factors. This article focuses on the impact and mechanism of different genetic variations of human health, and progress on scientific research and clinical applications led by technological advances, including the prevention and treatment of genetic diseases. At the same time, we also engage with future research trend of genetic variations, hoping to provide a reference for related research on human health.

IN THE EARLY 17TH CENTURY, SIR FRANCIS BACON SET OUT ON A QUEST to unravel the secrets of the natural world. His approach was singularly encyclopedic, involving careful scrutiny of every imaginable phenomenon from the currents of streams and the recesses of caves to the decay of bodies, the condensation of rain, and the refraction of light. What was his ultimate purpose? Nothing less, he expounded in The New Atlantis, than “the knowledge of causes, and secret motions of things; and the enlarging of the bounds of human empire, to the effecting of all things possible.” Interestingly, Bacon’s pursuit has parallels in our own era. The Human Genome Project, with its encyclopedic approach to gene identification, is reminiscent of the scope of Bacon’s early explorations. While Bacon’s lofty goals seem remarkably grandiose, it is not entirely clear that our ambitions today are more modest. For example, James Watson, as head of the Human Genome Project, ventured that the characterization of the human genome would eventually provide us with “the ultimate answers to the chemical underpinnings of human existence.” One of the most conspicuous differences between Bacon’s time and ours is the advent of modern technology. The research tools now available to scientists and clinicians offer unprecedented magnifying power for the study of biological processes. As a result, medicine has progressed from gross anatomical descriptions of disease to precise characterization of physiologic and pathologic phenomena at microscopic and molecular levels. As the editors of the New England Journal of Medicine recently concluded, “It is hard not to be moved by the astounding course of medical history over the past thousand years. No one alive in the year 1000 could possibly have imagined what was in store.” This month, MSJAMA examines several emerging technologies that are assuming increasing importance in the practice of clinical medicine. George Scarlatis comments on recent advances in the use of retinal and cortical stimulation to restore vision. Max Diehn, Ash Alizadeh, and Patrick Brown examine how complementary DNA microarray technology is redefining molecular medicine. In the closing article, Steve S. W. Han and Itzhak Fischer review advances in stem cell research and describe preliminary results on the repair of traumatic spinal cord injury in an animal model. See the MSJAMA Web site for Field Willingham’s discussion of the technological innovations transforming medical education at the University of Maryland. Medical students and physicians have access to a rapidly growing armamentarium of medical technologies. With these expanded capabilities comes a responsibility to introduce new innovations with discretion. Medical advances will never achieve their full potential unless they are well understood, thoughtfully applied, and critically evaluated. Only by staying abreast of new advances can medical students and physicians rise to the challenges and opportunities afforded by emerging health care advances.

Technological and medical advances have been dramatic over the past several years; particularly impressive have been advances in biotechnology and genetic research. The implications of genetic research as they relate to persons with disabilities are discussed. Additionally, historical and current problems with the use of genetic information are addressed. Finally, the role rehabilitation counselors can play as advocates for people with disabilities in the implementation of research results from the Human Genome Project is presented.

genetic testing for cystic fibrosis (CF) has been offered to people with higher risk of being carrier. to assess the effectiveness of population-based CF carrier screening for adults of reproductive age and its optimal organizational features. systematic review. MedLine, Embase, Cochrane Library, CINAHL and LILACS (1990-2022) were searched to retrieve primary and secondary studies on adults (16 years and older), with no clinical indication or genetic risk, eligible for genetic testing for CF carrier status. attitude to screening, uptake of screening offered, informed reproductive choices. a total of 3,326 records were screened and 292 potentially eligible full-text publications assessed. The review included 71 publications, corresponding to 3 reviews, 40 cohort studies (11 comparative, 29 single-arm), and 6 model studies, published between 1992 and 2021 (median 1998). Only one study compared screening or no screening. This study suggested an association between carrier screening and a lower incidence of CF. Comparative studies examined different approaches for invitation and testing, i.e., settings, target population (individuals/couples, prenatal/preconceptional), how invitations are organized (primary care/maternal hospitals), and format and content of the pre-test information. However, no firm conclusions can be drawn on the impact of these features on informed reproductive choices, uptake, and attitude, because of the limitations of the evidence collected. the broad heterogeneity of the studies, methodological weaknesses, and the limited transferability of the results mean there is still uncertainty about the effectiveness of preconceptional and prenatal CF carrier screening in the general population.