scholarly journals Autonomous decisions by couples in reproductive care

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Amal Matar ◽  
Anna T. Höglund ◽  
Pär Segerdahl ◽  
Ulrik Kihlbom
Keyword(s):  
Healthcare Professionals ◽  
Genetic Diseases ◽  
Reproductive Technologies ◽  
Individual Autonomy ◽  
Carrier Status ◽  
Final Decision ◽  
Joint Decision ◽  
Ethical Rationale ◽  
Autosomal Recessive Diseases ◽  
Preconception Expanded Carrier Screening

Abstract Background Preconception Expanded Carrier Screening (ECS) is a genetic test offered to a general population or to couples who have no known risk of recessive and X-linked genetic diseases and are interested in becoming parents. A test may screen for carrier status of several autosomal recessive diseases at one go. Such a program has been piloted in the Netherlands and may become a reality in more European countries in the future. The ethical rationale for such tests is that they enhance reproductive autonomy. The dominant conception of autonomy is individual-based. However, at the clinic, people deciding on preconception ECS will be counselled together and are expected to make a joint decision, as a couple. The aim of the present study was to develop an understanding of autonomous decisions made by couples in the context of reproductive technologies in general and of preconception ECS in particular. Further, to shed light on what occurs in reproductive clinics and suggest concrete implications for healthcare professionals. Main text Based on the shift in emphasis from individual autonomy to relational autonomy, a notion of couple autonomy was suggested and some features of this concept were outlined. First, that both partners are individually autonomous and that the decision is reached through a communicative process. In this process each partner should feel free to express his or her concerns and preferences, so no one partner dominates the discussion. Further, there should be adequate time for the couple to negotiate possible differences and conclude that the decision is right for them. The final decision should be reached through consensus of both partners without coercion, manipulation or miscommunication. Through concrete examples, the suggested notion of couple autonomy was applied to diverse clinical situations. Conclusions A notion of couple autonomy can be fruitful for healthcare professionals by structuring their attention to and support of a couple who is required to make an autonomous joint decision concerning preconception ECS. A normative implication for healthcare staff is to allow the necessary time for decision-making and to promote a dialogue that can increase the power of the weaker part in a relationship.

Legal restrictions on pre-implantation genetic diagnostics in the framework of in vitro fertilization procedure: foreign experience and Russian perspective

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all
Keyword(s):  
In Vitro Fertilization ◽  
Assisted Reproductive Technologies ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Genetic Diagnostics ◽  
Vitro Fertilization ◽  
Medical Indications

The article discusses the factors that determine the content of the legal limitations of pre-implantation genetic diagnosis in the framework of the in vitro fertilization procedure, taking into account international experience and modern domestic regulatory legal regulation of the field of assisted reproductive technologies. The authors substantiates the conclusion that it is necessary to legislate a list of medical indications for preimplantation genetic diagnosis, as well as the categories of hereditary or other genetic diseases diagnosed in the framework of this procedure.

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

scholarly journals Evaluation of women’s attitude to carrier screening

2019 ◽  
pp. 19-23
Author(s):  
Г.Ю. Зобкова ◽  
Е.Е. Баранова ◽  
Н.С. Демикова ◽  
А.Е. Донников ◽  
Н.М. Подзолкова
Keyword(s):  
Autosomal Recessive ◽  
Married Couples ◽  
Carrier Screening ◽  
Carrier Status ◽  
Prenatal Diagnostic ◽  
The Status ◽  
Autosomal Recessive Diseases

Цель: определение и анализ отношения женщин к прохождению скрининга на носительство мутаций в генах наиболее частых аутосомно-рецессивных заболеваний. Методы. Для исследования была разработана анкета, содержащая 11 вопросов, позволяющих оценить отношение женщин к различным видам диагностики. В анкетировании принимали участие 244 женщины фертильного возраста от 18-50 лет. Результаты. Желание пройти исследование на носительство перед зачатием изъявили 81,1% респондентов. 64,3% поддержали бы своего партнера при установлении у него статуса носительства и совместно обратились к врачу. Пройти пренатальную диагностику после установления статуса носительства у обоих партнеров хотели бы 60,7% респондентов. Выводы. В целом, женщины положительно отнеслись к возможности проведения исследования на носительство. Также было отмечено, что результаты исследования мало отразятся на отношениях в уже зарегистрированных браках. Purpose: the study aim was to determine and analyze woman’s attitude to carrier screening of the most common autosomal recessive diseases. Methods. For the study, a questionnaire was developed containing 11 questions to assess the attitude of women to various types of diagnostics. The survey involved 244 women of reproducrive age from 18 till 50 years. Results. 81.1% of respondents expressed a desire to undergo carrier screening before conception. 64.3% would support their partner when partner’s carrier status established and consulted with doctor together. 60.7% of respondents would like to undergo prenatal diagnostic after establishing the status of carriage in both partners. Conclusion. In general, women reacted positively to the possibility of passing carrier screening. It was also noted that the results of the screening will have low effect on the married couples.

scholarly journals Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Marco L. Leung ◽  
Deborah J. Watson ◽  
Courtney N. Vaccaro ◽  
Fernanda Mafra ◽  
Adam Wenocur ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
Sequence Data ◽  
Genetic Diseases ◽  
Control Sample ◽  
Gc Content ◽  
Carrier Status ◽  
Sequencing Data ◽  
High Coverage ◽  
Detection Rates

AbstractCystic fibrosis (CF) is one of the most common genetic diseases worldwide with high carrier frequencies across different ethnicities. Next generation sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has proven to be an effective screening tool to determine carrier status with high detection rates. Here, we evaluate the performance of the Swift Biosciences Accel-Amplicon CFTR Capture Panel using CFTR-positive DNA samples. This assay is a one-day protocol that allows for one-tube reaction of 87 amplicons that span all coding regions, 5′ and 3′UTR, as well as four intronic regions. In this study, we provide the FASTQ, BAM, and VCF files on seven unique CFTR-positive samples and one normal control sample (14 samples processed including repeated samples). This method generated sequencing data with high coverage and near 100% on-target reads. We found that coverage depth was correlated with the GC content of each exon. This dataset is instrumental for clinical laboratories that are evaluating this technology as part of their carrier screening program.

scholarly journals Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis

1997 ◽  
Vol 43 (5) ◽  
pp. 745-751 ◽  
Author(s):  
Paolo Fortina ◽  
Jing Cheng ◽  
Mann A Shoffner ◽  
Saul Surrey ◽  
Wendy M Hitchcock ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Becker Muscular Dystrophy ◽  
Diagnostic Methods ◽  
Carrier Status ◽  
Laser Induced Fluorescence Detection ◽  
General Utility ◽  
Pcr Products ◽  
Quantitative Results

Abstract Use of capillary electrophoresis, a new and useful analytical tool, offers a variety of advantages for nucleic acid analyses, including rapid analysis, automation, high resolution, qualitative and quantitative results, and low consumption of both sample and reagents. We report the first example of the use of entangled solution capillary electrophoresis (ESCE) and laser-induced fluorescence detection (LIF) for separation-based diagnostics in the quantitative analysis of multiplex PCR products for determination of carrier status of Duchenne/Becker muscular dystrophy (DMD/BMD). This ap-proach greatly improved the speed, resolution, and sensitivity of information needed for the diagnosis of DMD/BMD compared with that from conventional diagnostic methods, and is of general utility for diagnosis of genetic diseases.

Neither Nature nor Contract: Toward an Institutional Perspective on Parenthood Essay

2014 ◽  
Vol 8 (2) ◽  
pp. 297-333 ◽  
Author(s):  
Shahar Lifshitz
Keyword(s):  
Reproductive Technologies ◽  
Legal Regulation ◽  
Individual Autonomy ◽  
Parental Status ◽  
Institutional Perspective ◽  
Parental Relationship ◽  
Recent Developments ◽  
The One ◽  
Biological Parenthood

Abstract The official narrative of parental laws in Israel describes biological parenthood as the natural legal basis for determining parenthood, while recognizing legal adoption and surrogacy, in specific circumstances, as the sole official exception to the rule (and even then with some remnants of the biological connection). However, closer examination of parental laws in Israel, as well as in other countries, reveals that biological parenthood has in fact never served as the sole basis for recognizing parental status. Familial status, explicit and implicit agreements, and functional parenthood have all served, and continue to serve in many cases, albeit not always officially, as key parameters in determining the parental relationship and its consequences. The objection against the exclusivity of natural, biological parenthood has seemingly been strengthened in light of the challenge facing lawmakers through technological reproduction advances such as sperm donations, egg donations, and surrogacy. As a result of these recent developments, prominent scholars have begun to seek alternative definitions for the biological definition. One such approach, which was influenced by cultural feminism, attempts to determine the identity of the parent based on a concrete psychological relationship between the parent and the child. Another, more radical approach, views individual autonomy and the voluntary contract as the new basis for legal parenthood. In this essay, I argue that both alternatives – natural-biological and voluntary contract – do not sufficiently narrate the story behind determination of parenthood in Israeli law nor do they supply a sound normative basis for proper regulation of parental determination. In addition, I argue that while these approaches, which focus on the concrete psychological relationship between parent and child, add an important element to the discussion of parental determination, they are too focused on the private aspects of specific parent–child relationships and in doing so, these approaches overlook important elements of the proper legal regulation of parenthood. In light of this insufficiency, I suggest a social-institutional perspective of parenthood, one emphasizing that parenthood is not merely a matter of nature, but instead an artificial construct structured and designed by society. In addition, this approach rejects the current dissonance that exists between (1) the legal determination of parenthood; (2) the regulation of reproductive technologies, on the one hand, and the regulation of parenthood’s content in the sense of regulating parental status vs. state and vs. children, on the other hand. This approach maintains that the legal and social definition of parenthood will inevitably affect the content of parenthood. Therefore, I argue that on a normative level, various decisions regarding regulation of reproductive technologies and the determination of parenthood must take into account not only the involved parties but also the manner the decision can affect the conception “who is a parent” and more importantly, the ethos of parenthood that the law should encourage.

scholarly journals TYPES OF MARRIAGES, POPULATION STRUCTURE AND GENETIC DISEASE

2012 ◽  
Vol 45 (4) ◽  
pp. 461-470 ◽  
Author(s):  
T. M. B. MACHADO ◽  
T. F. BOMFIM ◽  
L. V. SOUZA ◽  
N. SOARES ◽  
F. L. SANTOS ◽  
...  
Keyword(s):  
Population Structure ◽  
High Frequency ◽  
Genetic Diseases ◽  
High Rate ◽  
Occurrence Rate ◽  
Consanguineous Marriages ◽  
Rare Genetic Diseases ◽  
Different Types ◽  
Autosomal Recessive Diseases ◽  
The City

SummaryA high occurrence rate of consanguineous marriages may favour the onset and increased frequency of autosomal recessive diseases in a population. The population of Monte Santo, Bahia, Brazil, has a high frequency of rare genetic diseases such as mucopolysaccharidosis type VI, whose observed frequency in this population is 1:5000, while the incidence of this disease recorded in other regions of the world varies from 1:43,261 in Turkey to 1:1,505,160 in Switzerland. To verify the influence of consanguineous marriage on the increased frequency of observed genetic diseases in this population, the population structure and frequency of different types of marriage during different time periods were evaluated. A total of 9765 marriages were found in an analysis of parish marriage records from the city. Over three periods, 1860–1895, 1950–1961 and 1975–2010, the inbreeding rates were 37.1%, 13.2% and 4.2% respectively. Although there was a high rate of inbreeding, endogamic marriages were the dominant marriage type in all three periods. In the most recent period, there was an increase in the number of exogamous marriages and those among immigrants, but most of these occurred among individuals from cities that neighbour Monte Santo. The low rate of migration and high frequency of endogamic and consanguineous marriages show that growth of this population is predominantly internal and could explain the occurrence, and increase in frequency, of recessive genetic diseases in the city.

scholarly journals 儒家倫理對構建醫師專業精神的若干啟示

2008 ◽  
Vol 6 (1) ◽  
pp. 129-146
Author(s):  
Enchang LI ◽  
Yumei XU ◽  
Yue TENG
Keyword(s):  
Healthcare Professionals ◽  
Confucian Ethics ◽  
Individual Autonomy ◽  
Medical Professionalism ◽  
Cultural Tradition ◽  
Primary Concern ◽  
View Point ◽  
The West ◽  
Medical Issues ◽  
Digital Commons

LANGUAGE NOTE | Document text in Chinese; abstract also in English.《新世紀的醫師專業精神—醫師宣言》所規定的醫師專業精神的三條原則中，將患者利益放在首位原則和患者自主原則，由於諸多原因而存在著悖論。中國儒家的仁術、德教為先、修身為本、慎獨、推己及人、高度人倫的思想對解決以上悖論有啟發意義：遵循道德形成和醫學技術提高的規律，通過各種學習、強化方法，使醫者真正確立患者利益第一的專業精神和具有精湛的專業技能。從而使醫者成為患者利益的真正代表，能在各種情況下有效保護患者的利益。As a dominant cultural tradition in China, Confucianism has greatly inf luenced the Chinese medical ethics. From the view point of Confucian ethics, medicine is the“ art of benevolence” (renshu ). For a Confucian, Confucianism and medicine share the same principle. The concept of patients-first is deeply rooted in the Confucian ethical system in which the“ virtue of a doctor” (yide ) is a primary concern in medical professionalism. This paper f irst discusses the major three principles of professionalism presented by“ The Declaration of Medical Professionalism in the New Century,” and attempts to deal with the limitations of the Declaration by introducing Confucianism with respect to healthcare professionals and a doctor-patient relationship.The paper explains that the Confucian principle of care for others determines that Confucians take human relationship very seriously in their dealing with the health issue, since they understand that a person’s health is deeply affected by, and in turnaffects, other people. Therefore, the rule of individual autonomy as well as individual right emphasized in the West should not be taken as the only legitimate one in dealing with medical issues. More importantly, that the Confucian physician considers medical practice as benevolent action and thus it is more than medical professionalism.DOWNLOAD HISTORY | This article has been downloaded 89 times in Digital Commons before migrating into this platform.

scholarly journals Patient access to gene therapy medicinal products: a comprehensive review

2020 ◽  
Vol 7 (1) ◽  
pp. 123-134
Author(s):  
Marta Carvalho ◽  
Bruno Sepodes ◽  
Ana Paula Martins
Keyword(s):  
Social Factors ◽  
Systematic Approach ◽  
Healthcare Professionals ◽  
Genetic Diseases ◽  
Patient Access ◽  
Medicinal Products ◽  
Gene Therapies ◽  
Potential Patient ◽  
Trial Outcomes ◽  
Evidence Generation

BackgroundGene therapies have the potential to be a curative approach to a large number of genetic diseases. However, granting of a positive marketing authorisation does not equal patient access to therapy.ObjectivesThe purpose of this paper is to identify a full set of hurdles potentially preventing patient access to gene therapies based on the available literature.MethodsA review of the literature using systematic approach in two distinct databases was performed by identifying relevant, peer-reviewed publications, between 2012 and 2018.ResultsSeven major topics were identified as potential patient access hurdles, namely affordability, assessment of value, development of therapy, ethical/social factors, evidence generation, operational implementation and regulatory hurdles. From these, 25 additional subthemes were further identified. The most frequently mentioned obstacle in the literature is related to the affordability aspect especially focusing on high cost of therapy (84%) and therapy payment/reimbursement (51%). Importantly, the evidence generation focusing on limited trial outcomes (81%) seems as a strong obstacle in patient access to these therapies.ConclusionsA growing number of gene therapies are expected to be developed and made available to patients and healthcare professionals. Improvement of patient access to gene therapies can only be achieved by understanding all hurdles, in a complete and integrated fashion, so that strategies are timely established to ensure gene therapies’ benefits are provided to patients and to the society.

scholarly journals FEATURES OF LEGAL REGULATION OF GENOMIC RESEARCHES: FAILURES, SECURITY CONCERNS AND PROSPECTS

2020 ◽  
Vol 30 (1) ◽  
pp. 145-152
Author(s):  
A.A. Mokhov ◽  
A.N. Yavorsky ◽  
A.R. Pozdeev
Keyword(s):  
Russian Federation ◽  
Assisted Reproductive Technologies ◽  
Genetic Diseases ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Poor Quality ◽  
Federal Law ◽  
The Russian Federation ◽  
Public Health Protection ◽  
Genetic Consultation

The urgency of the article is determined by the need to ensure biological and ecological safety of Russia. The article gives examples of failures of auxiliary reproductive technologies in the Russian Federation and abroad which at present do not have adequate algorithms of legal resolution and are unsafe for ecology and man. Investigating the existing Russian legislation it has been revealed that passing only of obligatory medico-genetic consultation and incomplete medico-genetic inspection with approximate assessment of the genetic status of the donor does not exclude development of the fetus with severe genetic diseases, which is considered by the consumer of the service as poor quality and unsafe. It is noted that in cases of use of biomaterials from abroad, a comparative study of the genome becomes unlikely due to paragraph 7 of Art. 55 of the Federal Law of 21.11.2011 № 323-FZ "On the fundamentals of public health protection in the Russian Federation" and the order of the Ministry of Health of Russia from 30.08.2012. (ed. 01.02.2018) № 107n "On the order of using assisted reproductive technologies, contraindications and restrictions on their use". The conclusion was drawn on the need to develop and fix organizational and legal mechanisms and develop appropriate procedures.

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