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Medical genetics.

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Genetic Counseling↗

Sex distribution in sibships according to occupation of parents.

The relationship between sex distribution in sibships and the occupation of parents is examined to determine if nongenetic factors influence sex ratios in families of three or more children. The study is based on data for 2,759 families listed in the U.S. reference book "Who Is Who in the East", as well as additional data from "Who Is Who in American Women". It is found that "parents in aggressive, extrovert occupations are more likely to continue procreation if the first two children are both female rather than male, whereas parents in humanistic or artistic occupations are more likely to continue procreation if the first two children are male rather than female. This relationship between occupation and reproduction decreases the percentage of unisexual sibships." (summary in FRE, ITA)

Americas↗

Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China.

To identify Chinese geneticists' views of ethical issues in genetic testing and screening, a national survey was conducted. Of 402 Chinese geneticists asked to participate, 255 (63%) returned by mail anonymous questionnaires. The majority of respondents thought that genetic testing should be offered in the workplace for alpha-antitrypsin deficiency (95%) and the predisposition of executives to heart disease, cancer, and diabetes (94%); that genetic testing should be included in preemployment physical examinations (86%); that governments should require premarital carrier tests (86%), newborn screening for sickle cell (77%), and Duchenne muscular dystrophy (71%); and that children should be tested for genes for late-onset disorders such as Huntington disease (85%), susceptibility to cancers (85%), familial hypercholesterolemia (84%), alcoholism (69%), and Alzheimer disease (61%). Most believed that partners should know each other's genetic status before marriage (92%), that carriers of the same defective gene should not mate with each other (91%), and that women should have a prenatal diagnosis if medically indicated (91%). The majority said that in China decisions about family planning were shared by the couple (82%). More than half had views that, in China, there were no laws to prohibit disability discrimination (64%), particularly to protect people with adult polycystic kidney disease (57%), cystic fibrosis (56%), or genetic predisposition to other diseases (50%). To some extent, these results might provide a basis for a discussion of eugenics in China, particularly about China's Maternal and Infant Health Care Law (1994).

Adult↗

Ethics, policy, and educational issues in genetic testing.

PURPOSE: Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. ORGANIZING CONSTRUCT: Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. FINDINGS: Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. CONCLUSIONS: Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

Confidentiality↗

Genetic counselor attitudes towards fetal sex identification and selective abortion.

Thirty-four prenatal genetic counselors (all but one non-M.D.s) in seven American cities were interviewed on attitudes which might plausibly affect counselor-client interchanges. They overwhelmingly endorse both non-directive counseling and the pro-choice ethos which supports a woman's absolute right to abortion in the early stages of pregnancy. However, they also overwhelmingly condemn using prenatal diagnosis for sex selection purposes. Therefore, counselors experience continual stress from clients who evoke the conflict inherent between these two stances. Counselors use a variety of coping mechanisms to minimize this cognitive dissonance. Avoidance through out-referral or invoking institutional policies forbidding prenatal diagnosis for sex selection purposes is a diminishing option and not possible with clients who have or offer a medical indication. More common is the use of psychological coping mechanisms. By elevating the ideals of non-directiveness and female autonomy counselors better tolerate client values in conflict with their own. Some redefine the category of 'unwanted pregnancy' to include fetuses of the 'wrong sex'; others redefine the problem as their own ethnocentricism. Empowering counselors to set the protocols they use to screen applicants for prenatal diagnosis would not remove these conflicts. Many counselors believe a ban on releasing fetal sex information while abortion is still a legal option would be organizationally or legally unacceptable, or a violation of patient automony. A complicating factor is that 60% of the counselors interviewed would prefer to know fetal sex in their own pregnancies. Counselors reflect the ambivalence of American society in balancing conflicting social goals.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Legal↗

In focus. Has patient autonomy gone to far? Geneticists' views in 36 nations.

We surveyed genetics professionals, patients, and the public about rights to information, to requested services, and to parenthood, posing difficult cases found in practice. In all, 2906 genetics professionals (63%), 499 primary care physicians (59%), 476 North American genetics patients (67%), 394 French patients (51%), 593 German patients (65%), and 988 members of the American public (99%) returned anonymous questionnaires. Results suggest a trend toward increased respect for patient autonomy since an earlier survey in 1985; in most nations more would perform prenatal diagnosis for a couple with 4 daughters who desire a son. A minority (35% in U.S., 14% elsewhere) would perform PND for a deaf couple who want a deaf child, but most (94% in U.S., 62% elsewhere) would do prenatal paternity testing in the absence of rape or incest. About half (51%) would support a woman with fragile X who wants children. The trend to respect patient autonomy was greatest in the U.S. and was least evident in China and India. In general, responses to these cases illustrate a shift away from population or eugenic concerns to a model of genetics focused on the individual.

Abortion, Eugenic↗

Unacknowledged Burdens and Clinical Assets of BIPOC Genetic Counseling Students: Qualitative Evidence to Inform Supervision.

As the genetic counseling profession works to diversify its predominantly white workforce, understanding the experiences of Black, Indigenous, and People of Color (BIPOC) students is central to equity efforts. While BIPOC students bring invaluable cultural and linguistic diversity that improves patient care, they often navigate clinical training environments that lack diversity and psychological safety. This article draws on data from a longitudinal constructivist qualitative study to examine how racial and ethnic concordance (or lack thereof) with patients and clinical supervisors influenced the clinical training, professional development, and well-being of BIPOC genetic counseling students. Semi-structured interviews were conducted with 25 BIPOC genetic counseling students in the United States and Canada. Interviews were recorded using Zoom.us, transcribed using Rev.com, and analyzed in NVivo using reflexive thematic analysis. The analysis led to the construction of three themes: (1)Shared identity with patients is a clinical advantage: Participants leveraged their cultural and linguistic intuition to establish trust and rapport with patients; (2) Identity navigation involves cognitive and emotional labor: Participants shouldered an unacknowledged burden in managing stereotype threat, overcoming feelings of exclusion, and educating supervisors; and (3) Racial/ethnic identity shapes supervisory dynamics: Participants described BIPOC supervisors as providing identity-affirming support, while some white supervisors avoided discussions about identity or committed microaggressions. These results suggest that BIPOC genetic counseling students have clinical assets rooted in biculturalism, yet carry a burden that often goes unacknowledged of managing power imbalances and pressure to assimilate in predominantly white clinical supervision spaces. To promote equitable training, programs should implement supervisor training on culturally responsive identity broaching, establish independent, transparent mechanisms for students to report biases they encounter in clinic, and expand mentorship networks to provide additional support.

Humans↗

Genetic associates.

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Genetic Counseling↗

Clinical genetics.

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Genetic Counseling↗

Reproductive health services in rural Washington State: scope of practice and provision of medical abortions, 1996-1997.

OBJECTIVES: This study explored reproductive health care in rural Washington State, reasons given by providers for not offering abortions, and providers' willingness to use medical abortifacients. METHODS: Physicians, midwives, nurse practitioners, and physician assistants in rural Washington completed an inventory of reproductive health services that they provide, whether and why they do not perform abortions, and whether they would use medical abortifacients. RESULTS: Of the respondents, 89.2% reported providing reproductive health care. Only 1.2% reported performing surgical abortions, and 26.1% indicated that they would probably prescribe medical abortifacients. CONCLUSIONS: Few providers offer surgical abortions in rural Washington. Greater numbers report a willingness to prescribe medical abortifacients.

Abortifacient Agents↗

[Genetics in medical practice after 2000].

Within a few years the 80,000 human genes will be identified which will increase our understanding of the genetic aspects of a large number of diseases, not only the relatively rare monogenic diseases but also the more frequent multifactorial diseases such as atherosclerosis, thrombosis and schizophrenia. Pharmacogenomics will lead to particular medication that is tuned to the genetic variations of the patient. Presently this increase in knowledge in the area of DNA diagnosis and genetic counselling will lead to a continuous increase in requests for assays. The possibilities for application will depend on new technological developments such as the DNA array technology and automation. To meet the increasing number of requests for genetic counselling, genetic nurses will have to play an important role. Moreover, collaboration between clinical geneticists and other specialists will have to be further intensified.

Forecasting↗

Women's reproductive choices: the impact of Medicaid funding restrictions.

As of January 1997, 34 states were enforcing restrictions on Medicaid funding for abortions. Determining whether these restrictions affect women's reproductive decisions was the object of a fixed-effects log-linear analysis using 11 years of data between 1978 and 1992. Results indicate that abortion rates in states with Medicaid funding restrictions are 2% lower than rates in states with no such restrictions. However, when the supply of abortion providers and the demographic characteristics of the state population are taken into account, the difference is no longer statistically significant. Medicaid funding restrictions have no impact on birthrates, and the result is the same regardless of whether the empirical model takes into account provider availability, demographic characteristics and state sentiment toward women and reproductive rights.

Abortion, Legal↗