Articles de revues : « Genetic screening »

1

Elias, Sherman, et George J. Annas. « Generic Consent for Genetic Screening ». New England Journal of Medicine 330, n^o 22 (2 juin 1994) : 1611–13. http://dx.doi.org/10.1056/nejm199406023302213.

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Hasanova, Aytakin, et Lamiya Guliyeva. « GENETIC SCREENING ». Likarska sprava, n^o 1-2 (25 mai 2021) : 40–44. http://dx.doi.org/10.31640/jvd.1-2.2021(6).

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Human, as a species, is very variable, and his variability is at the basis of his social organization. This variability is maintained, in part, by the chance effects of gene assortment and the variation in these genes is the result of mutations in the past. If our remote ancestors had not mutated we would not he here; further, since no species is likely to he able to reduce its mutation rate substantially by the sort of selection to which it is exposed, we may regard mutations of recent origin as part of the price of having evolved. We are here: all of us have some imperfections we would wish not to have, and many of us are seriously incommoded by poor sight, hearing or thinking. Others among us suffer from some malformation due to faulty development. A few are formed lacking some essential substance necessary to metabolize a normal diet, to clot the blood, or to darken the back of the eye. We will all die and our deaths will normally be related to some variation in our immunological defences, in our ability to maintain our arteries free from occlusion, or in some other physiological aptitude. This massive variation, which is the consequence both of chance in the distribution of alleles and variety in the alleles themselves, imposes severe disabilities and handicaps on a substantial proportion of our population. The prospects of reducing this burden by artificial selection from counselling or selective feticide will be considered and some numerical estimates made of its efficiency and efficacy.

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Burke, W., B. Tarini, N. A. Press et J. P. Evans. « Genetic Screening ». Epidemiologic Reviews 33, n^o 1 (27 juin 2011) : 148–64. http://dx.doi.org/10.1093/epirev/mxr008.

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Clarke, Angus. « Genetic screening ». Practice Nursing 7, n^o 14 (septembre 1996) : 32–34. http://dx.doi.org/10.12968/pnur.1996.7.14.9823.

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Williams, Janet K. « Genetic Screening ». Journal of Obstetric, Gynecologic & ; Neonatal Nursing 14, n^o 5 (septembre 1985) : 350. http://dx.doi.org/10.1111/j.1552-6909.1985.tb02081.x.

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McCarrick, Pat Milmoe. « Genetic Testing and Genetic Screening ». Kennedy Institute of Ethics Journal 3, n^o 3 (1993) : 333–54. http://dx.doi.org/10.1353/ken.0.0251.

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7

Sermon, Karen. « Preimplantation Genetic Screening ». OBM Genetics 1, n^o 4 (27 octobre 2017) : 1. http://dx.doi.org/10.21926/obm.genet.1704008.

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Sermon, Karen. « Preimplantation Genetic Screening ». OBM Genetics 1, n^o 1 (27 octobre 2017) : 1. http://dx.doi.org/10.21926/obm.genet.1704009.

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Mastenbroek, S., M. Twisk, F. van der Veen et S. Repping. « Preimplantation genetic screening ». Reproductive BioMedicine Online 17, n^o 2 (janvier 2008) : 293. http://dx.doi.org/10.1016/s1472-6483(10)60209-x.

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10

Harper, Joyce C. « Preimplantation genetic screening ». Journal of Medical Screening 25, n^o 1 (14 juin 2017) : 1–5. http://dx.doi.org/10.1177/0969141317691797.

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Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

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Lalwani, Sasmira, Jeannine Witmyer, Nancy Gaba et David Frankfurter. « Preimplantation Genetic Screening ». Postgraduate Obstetrics & ; Gynecology 35, n^o 17 (septembre 2015) : 1–5. http://dx.doi.org/10.1097/01.pgo.0000471712.79930.33.

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Burgin, Karen B. « Prenatal Genetic Screening ». Journal of Midwifery & ; Women's Health 53, n^o 4 (8 juillet 2008) : 391–92. http://dx.doi.org/10.1016/j.jmwh.2008.02.002.

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Moore, Aideen M., et Julie Richer. « Genetic testing and screening in children ». Paediatrics & ; Child Health 27, n^o 4 (1 juillet 2022) : 243–47. http://dx.doi.org/10.1093/pch/pxac028.

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Abstract Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. This statement provides an overview of recent developments that may impact genetic testing in children. Genetics is a rapidly evolving field, and this statement focuses specifically on expanded newborn screening, next generation sequencing (NGS), incidental findings, direct-to-consumer testing, histocompatibility testing, and genetic testing in a research context.

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14

Kenner, Carole, et Stephanie Amlung. « Newborn Genetic Screening : Blessing or Curse ? » Neonatal Network 18, n^o 7 (octobre 1999) : 11–19. http://dx.doi.org/10.1891/0730-0832.18.7.11.

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Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

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15

Lorey, Fred. « Human Genetics Data Applied to Genetic Screening Programs ». Practicing Anthropology 20, n^o 2 (1 avril 1998) : 30–33. http://dx.doi.org/10.17730/praa.20.2.n84728r821185380.

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The uses of human genetic data in genetic screening are multifaceted and dynamic, creating an ongoing stream of useful prevalence data, ethnicity data, and natural history information. Since the primary facility for generation of these data is a large public health genetic screening program, however, the results must be continually analyzed and evaluated in the context of testing parameters. For example, presumptive positive rates (initial screening test positives, only a portion of which will become diagnosed cases), false positive rates, detection rates, and analytical values must be constantly checked to ensure the screening program is running smoothly and effectively. Any departures from the expected must be investigated so that the cause(s) can be determined and corrected. On a longitudinal basis, outcomes must be evaluated to ensure that the intended purpose of preventing mortality and reducing morbidity through intervention is achieved.

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16

Victor Maafo, E. « Research Note : Genetic Engineering and Genetic Screening ». Competitiveness Review 11, n^o 1 (janvier 2001) : 83–84. http://dx.doi.org/10.1108/eb046421.

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17

Sullivan-Pyke, Chantae, et Anuja Dokras. « Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis ». Obstetrics and Gynecology Clinics of North America 45, n^o 1 (mars 2018) : 113–25. http://dx.doi.org/10.1016/j.ogc.2017.10.009.

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18

Nolan, Kathleen. « First Fruits : Genetic Screening ». Hastings Center Report 22, n^o 4 (juillet 1992) : S2. http://dx.doi.org/10.2307/3563030.

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19

Holden, Constance. « Employers Shun Genetic Screening ». Science 250, n^o 4982 (9 novembre 1990) : 752. http://dx.doi.org/10.1126/science.250.4982.752.b.

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20

Traeger-Synodinos, Johanne, et François Rousseau. « Introduction to Genetic Screening ». OBM Genetics 3, n^o 3 (6 septembre 2019) : 1. http://dx.doi.org/10.21926/obm.genet.1903094.

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21

Javaher, P., E. Nyoungui, H. Kääriäinen, U. Kristoffersson, I. Nippert, J. Sequeiros et J. Schmidtke. « Genetic Screening in Europe ». Public Health Genomics 13, n^o 7-8 (2010) : 524–37. http://dx.doi.org/10.1159/000294998.

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22

Carlsson, Christina, Mats Jonsson, Bengt Nordén, Maria T. Dulay, Richard N. Zare, Jaan Noolandi, Peter E. Nielsen, Lap-Chee Tsui et Julian Zielenski. « Screening for genetic mutations ». Nature 380, n^o 6571 (mars 1996) : 207. http://dx.doi.org/10.1038/380207a0.

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23

Mills, Catherine. « GENETIC SCREENING AND SELFHOOD ». Australian Feminist Studies 23, n^o 55 (mars 2008) : 43–55. http://dx.doi.org/10.1080/08164640701816207.

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Grody, Wayne W. « Molecular Genetic Risk Screening ». Annual Review of Medicine 54, n^o 1 (février 2003) : 473–90. http://dx.doi.org/10.1146/annurev.med.54.101601.152127.

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25

Lea, Dale Halsey, et Janet K. Williams. « Genetic Testing and Screening ». AJN, American Journal of Nursing 102, n^o 7 (juillet 2002) : 36–43. http://dx.doi.org/10.1097/00000446-200207000-00035.

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26

Motulsky, Arno G. « Screening for Genetic Diseases ». New England Journal of Medicine 336, n^o 18 (mai 1997) : 1314–16. http://dx.doi.org/10.1056/nejm199705013361810.

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27

Caskey, C. Thomas, Manuel L. Gonzalez-Garay, Stacey Pereira et Amy L. McGuire. « Adult Genetic Risk Screening ». Annual Review of Medicine 65, n^o 1 (14 janvier 2014) : 1–17. http://dx.doi.org/10.1146/annurev-med-111212-144716.

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Smith, Richard J. H., et Stephen Hone. « Genetic screening for deafness ». Pediatric Clinics of North America 50, n^o 2 (avril 2003) : 315–29. http://dx.doi.org/10.1016/s0031-3955(03)00026-9.

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Williams, D. K., et I. D. Young. « Implications of genetic screening ». Current Obstetrics & ; Gynaecology 7, n^o 3 (septembre 1997) : 180–81. http://dx.doi.org/10.1016/s0957-5847(97)80082-0.

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30

Harper, Peter S. « What is Genetic Screening ? » Journal of Medical Screening 3, n^o 3 (septembre 1996) : 165–66. http://dx.doi.org/10.1177/096914139600300314.

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Gregg, Anthony R., et Joe Leigh Simpson. « Genetic screening and counseling ». Obstetrics and Gynecology Clinics of North America 29, n^o 2 (juin 2002) : xi—xii. http://dx.doi.org/10.1016/s0889-8545(02)00006-2.

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32

Washburn, Newell R. « Screening for genetic anomalies ». American Journal of Obstetrics and Gynecology 157, n^o 1 (juillet 1987) : 212. http://dx.doi.org/10.1016/s0002-9378(87)80384-8.

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33

Connor, J. Michael. « Screening for genetic abnormality ». Fetal and Maternal Medicine Review 1, n^o 01 (janvier 1989) : 13. http://dx.doi.org/10.1017/s096553950000005x.

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34

Philip, Nicole. « Screening for genetic disorders ». Child's Nervous System 19, n^o 7-8 (1 août 2003) : 436–39. http://dx.doi.org/10.1007/s00381-003-0779-0.

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35

Williams, Janet K. « Screening for genetic disorders ». Journal of Pediatric Health Care 3, n^o 3 (mai 1989) : 115–21. http://dx.doi.org/10.1016/0891-5245(89)90060-6.

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36

Uzych, L. « Genetic screening and ethics. » Journal of Medical Ethics 22, n^o 1 (1 février 1996) : 53–54. http://dx.doi.org/10.1136/jme.22.1.53.

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37

Crisp, R. « Genetic screening : ethical issues ». Journal of Medical Ethics 20, n^o 4 (1 décembre 1994) : 264–65. http://dx.doi.org/10.1136/jme.20.4.264.

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KOLATA, G. « Genetic Screening Issues Studied ». Science 232, n^o 4748 (18 avril 1986) : 318. http://dx.doi.org/10.1126/science.232.4748.318.

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39

Norton, Mary E. « Genetic screening and counseling ». Current Opinion in Obstetrics and Gynecology 20, n^o 2 (avril 2008) : 157–63. http://dx.doi.org/10.1097/gco.0b013e3282f73230.

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40

Elias, Sherman, et George J. Annas. « Routine Prenatal Genetic Screening ». New England Journal of Medicine 317, n^o 22 (26 novembre 1987) : 1407–9. http://dx.doi.org/10.1056/nejm198711263172208.

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Lau, Tze Kin, et Tse Ngong Leung. « Genetic screening and diagnosis ». Current Opinion in Obstetrics and Gynecology 17, n^o 2 (avril 2005) : 163–69. http://dx.doi.org/10.1097/01.gco.0000162187.99219.e0.

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Cao, Antonio, Maria Cristina Rosatelli et Renzo Galanello. « Population-based genetic screening ». Current Opinion in Genetics & ; Development 1, n^o 1 (juin 1991) : 48–53. http://dx.doi.org/10.1016/0959-437x(91)80040-s.

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Orentlicher, David. « Genetic Screening by Employers ». JAMA : The Journal of the American Medical Association 263, n^o 7 (16 février 1990) : 1005. http://dx.doi.org/10.1001/jama.1990.03440070093040.

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Cornel, Martina C., Karuna R. M. van der Meij, Carla G. van El, Tessel Rigter et Lidewij Henneman. « Genetic Screening—Emerging Issues ». Genes 15, n^o 5 (3 mai 2024) : 581. http://dx.doi.org/10.3390/genes15050581.

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In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples’ reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit–harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.

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45

Ross, Lainie Friedman. « Predictive Genetic Testing of Children and the Role of the Best Interest Standard ». Journal of Law, Medicine & ; Ethics 41, n^o 4 (2013) : 899–906. http://dx.doi.org/10.1111/jlme.12099.

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The genetic testing and screening of children has been fraught with controversy since Robert Guthrie developed the bacterial inhibition assay to test for phenylketonuria and advocated for rapid uptake of universal newborn screening in the early 1960s. Today with fast and affordable mass screening of the whole genome on the horizon, the debate about when and in what scenarios children should undergo genetic testing and screening has gained renewed attention. United States (US) professional guidelines — both the American College of Medical Genetics (ACMG)/American Society of Human Genetics (ASHG) statement (1995) and the American Academy of Pediatrics (AAP) Statement on the genetic testing of children (2001) and the new AAP and ACMG joint policy statement (2013) and technical report (2013) — as well as the old UK guidelines by the Working Part of the Clinical Genetics Society (1994) and the new United Kingdom (UK) guidelines by the British Society of Human Genetics (BSHG) (2010) all give the same answer: genetic testing and screening should only be done if it is in the child’s best interest.

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46

Markossian, Sarine, Kenny K. Ang, Christopher G. Wilson et Michelle R. Arkin. « Small-Molecule Screening for Genetic Diseases ». Annual Review of Genomics and Human Genetics 19, n^o 1 (31 août 2018) : 263–88. http://dx.doi.org/10.1146/annurev-genom-083117-021452.

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The genetic determinants of many diseases, including monogenic diseases and cancers, have been identified; nevertheless, targeted therapy remains elusive for most. High-throughput screening (HTS) of small molecules, including high-content analysis (HCA), has been an important technology for the discovery of molecular tools and new therapeutics. HTS can be based on modulation of a known disease target (called reverse chemical genetics) or modulation of a disease-associated mechanism or phenotype (forward chemical genetics). Prominent target-based successes include modulators of transthyretin, used to treat transthyretin amyloidoses, and the BCR-ABL kinase inhibitor Gleevec, used to treat chronic myelogenous leukemia. Phenotypic screening successes include modulators of cystic fibrosis transmembrane conductance regulator, splicing correctors for spinal muscular atrophy, and histone deacetylase inhibitors for cancer. Synthetic lethal screening, in which chemotherapeutics are screened for efficacy against specific genetic backgrounds, is a promising approach that merges phenotype and target. In this article, we introduce HTS technology and highlight its contributions to the discovery of drugs and probes for monogenic diseases and cancer.

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47

Brezina, Paul R., Raymond W. Ke et William H. Kutteh. « Preimplantation Genetic Screening : A Practical Guide ». Clinical Medicine Insights : Reproductive Health 7 (janvier 2013) : CMRH.S10852. http://dx.doi.org/10.4137/cmrh.s10852.

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The past several decades have seen tremendous advances in the field of medical genetics. The application of genetic technologies to the field of reproductive medicine has ushered in a new era of medicine that is likely to greatly expand in the coming years. Concurrent with an in vitro fertilization (IVF) cycle, it is now possible to obtain a cellular biopsy from a developing embryo and genetically evaluate this sample with increasing sophistication and detail. Preimplantation genetic screening (PGS) is the practice of determining the presence of aneuploidy (either too many or too few chromosomes) in a developing embryo. However, how and in whom PGS should be offered is a topic of much debate.

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48

van El, Carla Geertruida, Toine Pieters et Martina Cornel. « Genetic screening and democracy : lessons from debating genetic screening criteria in the Netherlands ». Journal of Community Genetics 3, n^o 2 (30 août 2011) : 79–89. http://dx.doi.org/10.1007/s12687-011-0063-z.

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49

Motulsky, Arno G. « Societal problems in human and medical genetics ». Genome 31, n^o 2 (15 janvier 1989) : 870–75. http://dx.doi.org/10.1139/g89-153.

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The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human health and disease is producing difficult dilemmas. New problems are likely to surface, but human ingenuity and rationality is likely to find just and compassionate solutions in most settings.Key words: genetics and society; genetic diseases; counseling, genetic screening.

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Comparetto, Ciro, et Franco Borruto. « Genetic Screening of Cervical Cancer ». OBM Genetics 05, n^o 03 (29 juin 2021) : 1. http://dx.doi.org/10.21926/obm.genet.2103132.

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Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs depends on the identification of early biomarkers (including functional and behavioral) for the risk and onset of the disease, and such programs need to be designed according to internationally accepted criteria. Cervical cancer represents a very relevant disease from the health and social perspective; around 528,000 new cases are diagnosed every year globally, of which, 85% are from developing countries, representing almost 12% of all cancers in females. Substantial reductions in the incidence of and mortality from cervical cancer have been observed after the introduction of prevention campaigns with the implementation of cervical screening programs through Papanicolaou (Pap) tests and, in particular, following the introduction of organized programs which guarantee a high level of screening coverage, as well as, the quality and continuity of diagnostic-therapeutic procedures. It is estimated that Pap smear screening every 3-5 years provides 80% protection against the onset of cancer. Advances in diagnostic techniques, particularly the development of easy-to-use molecular genetic tests, are replacing the use of the established Pap smear as a screening tool. This is possible owing to the discovery in 1975 that some cellular morphological changes (koilocytosis) were related to the presence of a Human Papillomavirus (HPV) infection. The HPV test is performed on a small sample of cells taken from the cervix, similar to the Pap test; however, it is not a morphological exam but a molecular biology exam that detects the presence of HPV by identifying its deoxyribonucleic acid (DNA) or messenger ribonucleic acid (mRNA). The results of numerous experimental studies have demonstrated a greater sensitivity of this test compared to the sensitivity of the traditional Pap test. However, the HPV test has a lower specificity due to two main factors: 1) The HPV test is based on the search for the types of viruses that have a greater oncogenic potential, and 2) It does not discriminate between transient infections and persistent and productive infections. The most widely used molecular tests are based on the search for HPV sequences and genotyping using molecular biology techniques, such as direct hybridization, qualitative polymerase chain reaction (PCR), and viral nucleotide sequencing.

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