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Journal articles on the topic 'Genetic screening – Psychological aspects'

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Published: 4 June 2021

Last updated: 9 February 2022

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1

Green, J. M., and M. P. M. Richards. "Psychological aspects of fetal screening and the new genetics." Journal of Reproductive and Infant Psychology 11, no. 1 (January 1993): 1–2. http://dx.doi.org/10.1080/02646839308403188.

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2

Ramalho, Antonio Sérgio, and Roberto Benedito de Paiva e. Silva. "Community Genetics: a new discipline and its application in Brazil." Cadernos de Saúde Pública 16, no. 1 (January 2000): 261–63. http://dx.doi.org/10.1590/s0102-311x2000000100029.

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Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy

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3

Anderson, Gwen. "Nondirectiveness in Prenatal Genetics: patients read between the lines." Nursing Ethics 6, no. 2 (March 1999): 126–36. http://dx.doi.org/10.1177/096973309900600205.

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For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient’s decision. It is assumed that, if genetic services are delivered in a nondirective manner, patients will not be affected by the provider’s personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients’ moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests.

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4

Allen, Clarissa, Karine Sénécal, and Denise Avard. "Defining the Scope of Public Engagement: Examining the “Right Not to Know” in Public Health Genomics." Journal of Law, Medicine & Ethics 42, no. 1 (2014): 11–18. http://dx.doi.org/10.1111/jlme.12114.

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While the realm of bioethics has traditionally focused on the rights of the individual and held autonomy as a defining principle, public health ethics has at its core a commitment to the promotion of the common good. While these two domains may at times conflict, concepts arising in one may also be informative for concepts arising in the other. One example of this is the concept of a “right not to know.” Recent debate suggests that just as there is a “right to know” information about one's genetic status, there is a parallel “right not to know” when it comes to genetic information that if communicated, could be detrimental to an individual's social or psychological well-being. As new genetic technologies continue to change the nature of genetic testing and screening, it is crucial that normative frameworks to guide and assess genetic public health initiatives be developed. In this context, the question of whether a “right not to know” may also be said to exist for populations on a public health level merits attention.

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5

Negredo, Eugenia, David Back, José-Ramón Blanco, Julià Blanco, Kristine M. Erlandson, Maite Garolera, Giovanni Guaraldi, et al. "Aging in HIV-Infected Subjects: A New Scenario and a New View." BioMed Research International 2017 (2017): 1–9. http://dx.doi.org/10.1155/2017/5897298.

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The prevalence of HIV-infected people aged 50 years or older is increasing rapidly; the proportion will increase from 28% to 73% in 2030. In addition, HIV-infected individuals may be more vulnerable to age-related condition. There is growing evidence that the prevalence of comorbidities and other age-related conditions (geriatric syndromes, functional or neurocognitive/mental problems, polypharmacy, and social difficulties) is higher in the HIV-infected population than in their uninfected counterparts. However, despite the potential impact of this situation on health care, little information exists about the optimal clinical management of older HIV-infected people. Here we examine the age-related conditions in older HIV-infected persons and address clinical management according to author expertise and published literature. Our aim is to advance the debate about the most appropriate management of this population, including less well-studied aspects, such as frequency of screening for psychological/mental and social and functional capabilities.

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6

Costan, Laura, Matthew J. Devine, Maud van Dinther, Louise Hendrickx, Job Meijer, Nynke van Uffelen, and Eline Zenner. "Down to Counsel: Towards A Transdisciplinary Toolbox for Non-directive Counseling in Prenatal Screening for Down Syndrome." Transdisciplinary Insights 2, no. 1 (December 15, 2018): 38–77. http://dx.doi.org/10.11116/tdi2018.2.2.

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Abstract Since the introduction of non-invasive prenatal testing (NIPT) in Belgium in 2013, expectant parents have had access to a new efficient and reliable test for genetic abnormalities, including trisomy 13, 18 and 21. In 2017, the Belgian government decided to cover over 95% of the cost for all women who choose to take this test. In this context, a diagnosis of trisomy 21 (Down syndrome) presents an especially challenging decision for parents: it is impossible to tell the severity of impairment prenatally, and although several medical risks are involved in the condition, many individuals with Down syndrome live a long, happy, and relatively independent life (Shakespeare, 1998; Scott et. al., 2014). Expectant parents face a very difficult situation: how to decide whether or not to terminate a pregnancy? It appears that termination is becoming the routinized outcome of the clinical encounter during which a diagnosis is delivered.The intricacy of the matter, and the fact that many actors are involved, lead to the necessity of a transdisciplinary methodology when scrutinizing the future of prenatal counseling. However, medical professionals tend to approach Down syndrome from an exclusively medical perspective (Skirton and Barr, 2010), leaving aside the economic, social and psychological dimensions of living with Down syndrome. This may result in unbalanced information; some (perhaps precipitously) refer to this phenomenon as ‘nudging practices’ (Hippman et. al., 2012; Reid et. al., 2009). In order to address this imbalance, we adopt a stakeholder approach in this project: we consulted <target target-type="page-num" id="p-39"/>experts with diverse backgrounds and fields of expertise. Through this transdisciplinary approach, we hope to bring about a more transdisciplinary perspective directly within the offices of gynecologists and GPs. More specifically, we aim to find ways to provide GPs and gynecologists with direct access to information about the aforementioned dimensions of Down syndrome.The next step is to define a strategy to achieve this goal. Given the fact that medical professionals often lack both time and easy access to concise information about Down syndrome to present a nuanced perspective (Ahmed et. al., 2007), but are still the first in the prenatal screening process, the output of this project is the idea of an online tool in a succinct Q&A format. The goal of such a website would be to provide up-to-date, easily accessible and balanced information for general practitioners and gynecologists on multiple aspects of Down syndrome. This way, in anticipation of and directing explicitly towards further counseling by a multidisciplinary team, physicians can provide expectant parents with a more balanced, transdisciplinary view of Down syndrome, thereby enhancing their capability to make informed, autonomous and hence sustainable decisions about their pregnancies.

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7

Modell, Bernadette. "Ethical Aspects of Genetic Screening." Annals of Medicine 24, no. 6 (January 1992): 549–55. http://dx.doi.org/10.3109/07853899209167009.

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8

Lerman, Caryn, Robert T. Croyle, Kenneth P. Tercyak, and Heidi Hamann. "Genetic testing: Psychological aspects and implications." Journal of Consulting and Clinical Psychology 70, no. 3 (2002): 784–97. http://dx.doi.org/10.1037/0022-006x.70.3.784.

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9

Szarewski, Anne. "Social and psychological aspects of cervical screening." Expert Review of Obstetrics & Gynecology 6, no. 1 (January 2011): 37–44. http://dx.doi.org/10.1586/eog.10.69.

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10

Philip, T., R. Ladenstein, P. Kogner, L. Perrier, and C. Bergeron. "Screening for neuroblastoma: ethical and psychological aspects." Medical and Pediatric Oncology 31, no. 5 (November 1998): 421–25. http://dx.doi.org/10.1002/(sici)1096-911x(199811)31:5<421::aid-mpo6>3.0.co;2-j.

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11

Henn, Wolfram. "Ethical Aspects of Premarital Genetic Screening." Human Heredity 46, no. 6 (1996): 342. http://dx.doi.org/10.1159/000154376.

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12

Sagi, Michal. "Ethical Aspects of Genetic Screening in Israel." Science in Context 11, no. 3-4 (1998): 419–29. http://dx.doi.org/10.1017/s0269889700003112.

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The ArgumentAdvances in genetic research make it possible to identify carriers of a growing number of genetic diseases. The World Health Organization (WHO) published several preconditions for community carrier screening. This paper aims to present some of the dilemmas about screening in Israel and the difficulties in following the WHO's helpful criteria.

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13

Sharpe, Neil F. "Psychological aspects of genetic counseling: A legal perspective." American Journal of Medical Genetics 50, no. 3 (April 15, 1994): 234–38. http://dx.doi.org/10.1002/ajmg.1320500305.

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14

Kessler, Seymour. "Psychological aspects of genetic counseling. XI. Nondirectiveness revisited." American Journal of Medical Genetics 72, no. 2 (October 17, 1997): 164–71. http://dx.doi.org/10.1002/(sici)1096-8628(19971017)72:2<164::aid-ajmg8>3.0.co;2-v.

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15

Kibitov, A. O., A. V. Trusova, and A. Yu Egorov. "INTERNET ADDICTION: CLINICAL, BIOLOGICAL, GENETIC AND PSYCHOLOGICAL ASPECTS." Вопросы наркологии, no. 3 (2019): 22–47. http://dx.doi.org/10.47877/0234-0623_2019_3_22.

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16

Kash, Kathryn M., and Mary Kay Dabney. "Psychological aspects of cancer screening in high-risk populations." Medical and Pediatric Oncology 36, no. 5 (2001): 519–24. http://dx.doi.org/10.1002/mpo.1124.

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17

Borreani, Claudia, and Laura Gangeri. "Genetic Counselling: Communication and Psychosocial Aspects." Tumori Journal 82, no. 2 (March 1996): 147–50. http://dx.doi.org/10.1177/030089169608200209.

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The results of genetic research have a remarkable role in medicine progress. At the same time the issues of prevention, individual attitudes and behaviour have acquired more importance, not only in relation to the illness but also regarding one's health. For these reasons is important to consider this field of study and intervention as an area to face, not only from the medical point of view but also from ethical and psychological ones. If we agree on the importance of a global approach to this problem, psychosocial support, which is often considered a parallel intervention, becomes a component of genetic counselling: the focal point of the intervention becomes the person, and not only the problem. The literature of the last years is rich of studies that have deepened these themes. Some studies have been analysed and reported but it is not easy to individualise a common patrimony of knowledge. Some aspects as information, communication, risk perception and psychological consequences are presented and discussed in this paper.

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18

Heurckmans, N., M. Vanhorenbeeck, A. Vanderfaeillie, P. Baetens, I. Ponjaert-Kristoffersen, and I. Liebaers. "O-239. Psychological aspects of pre-implantation genetic diagnosis." Human Reproduction 14, Suppl_3 (June 1999): 132. http://dx.doi.org/10.1093/humrep/14.suppl_3.132.

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19

Kessler, Seymour. "Psychological Aspects of Genetic Counseling. X. Advanced Counseling Techniques." Journal of Genetic Counseling 6, no. 4 (December 1997): 379–92. http://dx.doi.org/10.1023/a:1025644825912.

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20

Kessler, Seymour. "Psychological Aspects of Genetic Counseling. IX. Teaching and Counseling." Journal of Genetic Counseling 6, no. 3 (September 1997): 287–95. http://dx.doi.org/10.1023/a:1025676205440.

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21

Rozhnova, T. M., S. V. Kostyuk, V. L. Malygin, S. N. Enikolopov, and V. N. Nikolenko. "The phenomenon of codependency: psychological and medical genetic aspects." Neurology, Neuropsychiatry, Psychosomatics 12, no. 5 (October 25, 2020): 53–59. http://dx.doi.org/10.14412/2074-2711-2020-5-53-59.

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Addictive behavioral disorders are multifactorial diseases with clinical, neurophysiological, and genetic heterogeneity, a high comorbidity with other disorders, and a low curability. The etiopathogenetic mechanisms of non-chemical forms of addictive behavior have not been sufficiently studied, which makes it difficult to search for effective therapeutic procedures.Objective: to study the psychological and genetic components of a non-chemical addictive disorder as the phenomenon of codependency.Patients and methods. The investigation enrolled 256 women who were divided into three comparison groups: 1) those with the phenomenon of codependency, 2) phenotypically healthy women; 3) a population sample. Psychometric testing was carried out using the «Hand Test» by E. Wagner (adapted by A.I. Gerasimov and S.N. Enikolopov) and the clinical and genealogical characteristics of women with the phenomenon of codependency were studied. Results and discussion. There was a statistically significant predominance of the level of aggressiveness as autoaggression in the structure of the personality profile of women with the phenomenon of codependency (t=2.924–3.015; p=0.004–0.005). The clinical and genealogical characteristics of persons with addictive behavioral disorder as the phenomenon of codependency suggest that there is a statistically significantly high frequency of secondary alcoholism among first-degree and second-degree relatives or both and first-degree male relatives (p<0.001).Conclusion. The phenomenon of codependency as a non-chemical addiction includes psychological and genetic components. Women with codependency had autoaggressive destructive behavior patterns and a family history of alcoholism. The identified psychogenic characteristics can be considered as a risk for an addictive disease and somatoform disorders.

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22

Kessler, Seymour. "Psychological Aspects of Genetic Counseling: XIII. Empathy and Decency." Journal of Genetic Counseling 8, no. 6 (December 1999): 333–43. http://dx.doi.org/10.1023/a:1022967208933.

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23

Kessler, Seymour. "Psychological aspects of genetic counseling. VII. Thoughts on directiveness." Journal of Genetic Counseling 1, no. 1 (March 1992): 9–17. http://dx.doi.org/10.1007/bf00960080.

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24

Kessler, Seymour. "Psychological aspects of genetic counseling. VIII. Suffering and countertransference." Journal of Genetic Counseling 1, no. 4 (December 1992): 303–8. http://dx.doi.org/10.1007/bf00962826.

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25

Bratt, Ola, Monica Emanuelsson, and Henrik Grönberg. "Psychological Aspects of Screening in Families with Hereditary Prostate Cancer." Scandinavian Journal of Urology and Nephrology 37, no. 1 (January 2003): 5–9. http://dx.doi.org/10.1080/00365590310008604.

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26

Chaman-Ara, Kefayat, Mohammad Amin Bahrami, and Elham Bahrami. "Endometriosis Psychological Aspects: A Literature Review." Journal of Endometriosis and Pelvic Pain Disorders 9, no. 2 (January 2017): 105–11. http://dx.doi.org/10.5301/jeppd.5000276.

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Introduction Current evidence suggests that endometriosis imposes a considerable psychological burden on the affected women. This study was aimed to review this evidence. Methods A comprehensive electronic search was performed in Science direct, Medline/ PubMed, PsychINFO, Embase, CINAHL, Cochrane Clinical Trials, Scopus, Google scholar, Magiran and SID (Scientific Information Database) up to December, 15, 2016. Methodological quality of retrieved studies was assessed using a valid checklist. The main findings with regard to the objective of this review are extracted and summarized in tables. Results A total of 24 studies were included in the review from which, 23 used quantitative method and 1 used qualitative. Key findings of all studies showed that endometriosis reduces various aspects of psychological well-being. Conclusions Psychological interventions ranging from screening, providing consultation to psychiatric treatment prescriptions as same as the social supports such as work incentives should be integrated to endometriosis management protocols.

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27

Norrie, Kenneth McK. "Medico-legal aspects of obstetric scanning and genetic screening." Current Obstetrics & Gynaecology 4, no. 1 (March 1994): 61–63. http://dx.doi.org/10.1016/0957-5847(94)90015-9.

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28

Kessler, Seymour. "Psychological Aspects of Genetic Counseling: XII. More on Counseling Skills." Journal of Genetic Counseling 7, no. 3 (June 1998): 263–78. http://dx.doi.org/10.1023/a:1022895207096.

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29

Lerman, Caryn. "Psychological aspects of genetic testing: Introduction to the special issue." Health Psychology 16, no. 1 (1997): 3–7. http://dx.doi.org/10.1037/h0092702.

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30

Kessler, Seymour. "Psychological Aspects of Genetic Counseling. XIV. Nondirectiveness and Counseling Skills." Genetic Testing 5, no. 3 (September 2001): 187–91. http://dx.doi.org/10.1089/10906570152742227.

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31

Berg, Stig. "Aspects of Psychological Aging and Technology." International Journal of Technology Assessment in Health Care 1, no. 1 (January 1985): 117–21. http://dx.doi.org/10.1017/s0266462300003779.

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Aging is generally regarded as a reduction of physical, psychological, and social resources. This reduction is due to two processes that operate simultaneously during the life of an individual. One of these processes is the basic biological changes which take place within the individual and are probably programmed by genetic factors. The other is change due to environmental factors, such as air pollution, noise, poor working conditions, and eating habits, social and psychological factors such as attitudes and norms, and technological factors which can enhance adaptation or cause a decline in social or psychological resources. According to present knowledge, biological age changes are irreversible. However, it should be possible to reverse the environmental changes either through short-term interventions among individuals and the community, or by long-term interventions in the society.

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32

Hewison, Jenny. "Psychological Aspects of Individualized Choice and Reproductive Autonomy in Prenatal Screening." Bioethics 29, no. 1 (December 17, 2014): 9–18. http://dx.doi.org/10.1111/bioe.12124.

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33

Nolan, Kathleen. "First Fruits: Genetic Screening." Hastings Center Report 22, no. 4 (July 1992): S2. http://dx.doi.org/10.2307/3563030.

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34

Kaback, Michael M. "Perspectives in Genetic Screening: Principles and Implications." International Journal of Technology Assessment in Health Care 10, no. 4 (1994): 592–603. http://dx.doi.org/10.1017/s0266462300008199.

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AbstractRecent advances in genetic identification and characterization of a number or hereditary disorders have led to increased possibilities for genetic testing and screening. The context and methods of screening are important given that identification of otherwise healthy persons as being presymptomatic or at increased risk for genetic diseases may have serious consequences for their future lifestyle, employment, and insurability. This article examines general principles for genetic screening, including goals, delivery issues, and professional and lay responses to screening and counseling, and recommends areas in which social psychological research on screening is needed.

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35

Avdjieva-Tzavella, D. "Genetic and Non Genetic Aspects of Autism Spectrum Disorders." Balkan Journal of Medical Genetics 11, no. 1 (January 1, 2008): 3–10. http://dx.doi.org/10.2478/v10034-008-0012-2.

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Genetic and Non Genetic Aspects of Autism Spectrum DisordersChromosome abnormalities have long been recognized as an important cause of learning disabilities and multiple malformation syndromes. About 0.8% of live born infants have numerical or structural chromosomal anomalies that result in an abnormal phenotype. Identification of such anomalies is important clinically and also for accurate genetic counseling. Recently, molecular cytogenetic and array-based techniques have enabled higher resolution screens for chromosome anomalies. This brief review of the etiology of autism spectrum disorders (ASD) focuses on the heritable and non heritable risk factors that underlie this major neuro-developmental disorder. Since all patients with a chromosomal imbalance are dysmorphic, the association of ASD with a facial dysmorphism seems to be a good indication for chromosomal anomaly screening.

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36

McInerney, Joseph D. "Psychological Aspects of Genetic Counselling.Alan E. H. Emery, Ian M. Pullen." Quarterly Review of Biology 61, no. 1 (March 1986): 75–76. http://dx.doi.org/10.1086/414737.

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37

Kessler, Seymour, Eleanor K. Levine, John M. Opitz, and James F. Reynolds. "Psychological aspects of genetic counseling: IV. The subjective assessment of probability." American Journal of Medical Genetics 28, no. 2 (October 1987): 361–70. http://dx.doi.org/10.1002/ajmg.1320280214.

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38

Elsass, Peter, Palle Pedersen, Kristian Husum, and Nils Milman. "Assessment of the psychological effects of genetic screening for hereditary hemochromatosis." Annals of Hematology 87, no. 5 (December 13, 2007): 397–404. http://dx.doi.org/10.1007/s00277-007-0415-2.

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39

Kerruish, N. J., P. L. Campbell-Stokes, A. Gray, T. R. Merriman, S. P. Robertson, and B. J. Taylor. "Maternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes." PEDIATRICS 120, no. 2 (July 3, 2007): e324-e335. http://dx.doi.org/10.1542/peds.2006-1381.

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40

Ревазян, К. З., А. Н. Мешков, А. И. Ершова, А. М. Глечян, О. В. Сивакова, Н. А. Войнова, А. К. Волков, and О. М. Драпкина. "Sociological aspects of genetic carrier screening for autosomal recessive disorders." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 10(219) (October 30, 2020): 86–88. http://dx.doi.org/10.25557/2073-7998.2020.10.86-88.

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Генетический скрининг на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний является важным звеном профилактики наследственных заболеваний на этапе планирования семьи. Пациентам поликлиники НОМТЦ МГТУ им. Н.Э. Баумана в возрасте 18-49 лет (женщины) и от 18 лет (мужчины) было предложено ознакомиться с брошюрой о генетическом скрининге на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний и заполнить анонимный опросник для выявления отношения к скринингу. Анкетирование продемонстрировало положительное отношение участников к проведению генетического скрининга, так как 73% опрошенных изъявили желание пройти скрининг, но у 46% были опасения касательно его возможных негативных последствий. При дальнейшем внедрении генетического скрининга на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний, в систему здравоохранения важно организовать просветительскую работу, информирующую население о роли скрининга и для устранения нежелательных последствий. Genetic carrier screening for autosomal-recessive disorders is an important part of hereditary diseases prevention at the stage of family planning. Patients of the Bauman clinic (18-49 years old women and men older 18 years) were asked to read a brochure about carrier screening for autosomal-recessive disorders and fill out an anonymous questionnaire to identify their attitudes towards screening. The questionnaire showed a positive attitude of the participants towards genetic screening, as 73% of respondents expressed a desire to undergo screening, but 46% had concerns about its possible negative consequences. With the further implementation of carrier screening by the healthcare system, it is important to organize educational work that will inform the population about the role of screening and for eliminating undesirable consequences.

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Wagner, John E. "Practical and Ethical Issues with Genetic Screening." Hematology 2005, no. 1 (January 1, 2005): 498–502. http://dx.doi.org/10.1182/asheducation-2005.1.498.

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Abstract Clinical hematologists are faced with a growing list of new genetic-based tools for identifying a patient’s risk of disease. While many of the disease-specific tests are readily available, validation studies are required. Furthermore, genetic-based tests are being pushed to their technical limits, such as testing a single cell prior to embryo selection and transfer for couples at risk of genetic disease. As a result, misdiagnosis or misinterpretation of the data may result. As new genetic testing opportunities proliferate, the hematologist needs to be aware of the medical and legal issues surrounding their use. Furthermore, the hematologist needs to consider the psychological, ethical and social implications of this new field of genomic-based medicine.

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42

Crisp, R. "Genetic screening: ethical issues." Journal of Medical Ethics 20, no. 4 (December 1, 1994): 264–65. http://dx.doi.org/10.1136/jme.20.4.264.

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43

Uzych, L. "Genetic screening and ethics." Journal of Medical Ethics 22, no. 1 (February 1, 1996): 53–54. http://dx.doi.org/10.1136/jme.22.1.53.

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44

Serdiuk, V., and K. Maidenko. "Genetic Aspects of Primary Open-Angle Glaucoma." Ukrainian journal Ophthalmology, no. 2(13) (June 2021): 47–51. http://dx.doi.org/10.30702/ophthalmology30062021-13.2.47-51/681-07-037.

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Glaucoma is one of the widespread eye diseases causing visual disturbances and even blindness. Almost 15% of blindness worldwide is due to glaucoma. One of the factors of glaucoma development is heredity. Currently, identification and diagnosis of new glaucoma cases is achieved either by routine screening or examinations prompted by perceived risk. The factors associated with the pathogenesis of glaucoma include high intraocular pressure (IOP), aging, decreased blood ﬂow and genetic factors. Traditional vision screening for disorders like primary open-angle glaucoma (POAG) is time-consuming and costly. POAG is the most common type of glaucoma which has no obvious abnormality in the eye that points to a cause. Although mutations in several genes, including myocilin, optineurin, and CYP1B1 are associated with the disease, these genes account for less than 10% of cases worldwide. The paper reviews genetic studies in POAG. The genetic basis for the development of glaucoma and a variety of its related syndromes is considered. CYP1B1 is a member of a family of cytochrome P450 genes known to encode enzymes that metabolize and detoxify both endogenous and exogenous molecules, although their activity is not limited to detoxification. The human CYP superfamily contains 57 functional genes and 58 pseudogenes. Two specific substrates of CYP1B1 (estradiols and retinoic acid) could contribute to ocular development and specifically to the development of the ocular anterior segment.

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Chadwick, Ruth, Henk ten Have, Jfrgen Husted, Mairi Levitt, Tony McGleenan, Darren Shickle, and Urban Wiesing. "Genetic Screening and Ethics: European Perspectives." Journal of Medicine and Philosophy 23, no. 3 (July 1, 1998): 255–73. http://dx.doi.org/10.1076/jmep.23.3.255.2580.

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Tercyak, Kenneth P., Tiffani A. DeMarco, Bryn D. Mars, and Beth N. Peshkin. "Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: Psychological aspects." American Journal of Medical Genetics 131A, no. 1 (November 15, 2004): 36–41. http://dx.doi.org/10.1002/ajmg.a.30317.

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Gertig, Dorota M., Ashley Fletcher, and John L. Hopper. "Public health aspects of genetic screening for hereditary haemochromatosis in Australia." Australian and New Zealand Journal of Public Health 26, no. 6 (December 2002): 518–24. http://dx.doi.org/10.1111/j.1467-842x.2002.tb00360.x.

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Jannes, Cinthia E., Raul D. Santos, Pãmela R. de Souza Silva, Luciana Turolla, Ana C. M. Gagliardi, Julia D. C. Marsiglia, Ana P. Chacra, et al. "Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects." Atherosclerosis 238, no. 1 (January 2015): 101–7. http://dx.doi.org/10.1016/j.atherosclerosis.2014.11.009.

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Jarosławski, S., M. Toumi, P. Auquier, B. Borissov, and C. Dussart. "PMH8 PSYCHOLOGICAL ASPECTS OF GENETIC COUNSELING IN RARE GENETIC CNS DISORDERS - SHOULD REGULATORS BE MORE INVOLVED?" Value in Health 22 (November 2019): S682. http://dx.doi.org/10.1016/j.jval.2019.09.1482.

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Bellivier, F. "Schizophrenia, antipsychotics and diabetes: Genetic aspects." European Psychiatry 20, S4 (December 2005): S335—S339. http://dx.doi.org/10.1016/s0924-9338(05)80187-7.

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Abstract:

AbstractThe relatively high comorbidity of type 2 diabetes and schizophrenia may suggest a shared biological susceptibility to these twoconditions. Family studies have demonstrated an increased risk of diabetes in unaffected relatives of patients with schizophrenia, consistent with a heritable susceptibility trait. Linkage analyses have identified several loci that are associated with schizophrenia and some of these, notably those on chromosomes 2p22.1-p13.2 and 6g21-824.1 have also been observed in linkage studies in type 2 diabetes. In addition, the dopamine D5 receptor on chromosome 5 and the tyrosine hydroxylase gene on chromosome 11 have both been suggested as candidate genes in schizophrenia and may also be implicated in susceptibility to poor glycaemic control. In addition, an increased rate of type II diabetes has been observed in some patients treated with antipsychotics. Potential neurochemical substrates of this effect include the histamine H1 receptor, the 5-HT2C serotonin receptor or the β3 adrenoreceptor. However, the search for a genetic basis to the association between diabetes and schizophrenia is still in its infancy, and much further work needs to be performed, including the systematic screening of all confirmed susceptibility loci and quantitative trait locus mapping of glycaemic control.

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