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At least 19 recordsLinked to original sources
PubMed1999

Genetic testing, genetic medicine, and managed care.

As modern human genetics moves from the research setting to the clinical setting, it will encounter the managed care system. Issues of cost, access, and quality of care will affect the availability and nature of genetic testing, genetic counseling, and genetic therapies. This Article will explore such issues as professional education, coverage of genetic services, privacy and confidentiality, and liability. It will conclude with a series of recommendations for the practice of genetic medicine in the age of managed care.

Confidentiality↗
PubMed2006

Genetic testing, genetic information, and the role of maternal-child health nurses in Israel.

PURPOSE: To examine the rate of genetic testing, the characteristics of those who had these tests, and to examine the public's openness to the possibility of expanding nurses' roles in maternal-child health (MCH) clinics to include providing genetic information. DESIGN: The study was conducted in nine MCH clinics in the central district of Israel. All women attending the clinics during 1 week were requested to complete the questionnaire. The sample consisted of 361 participants. FINDINGS: A high rate of genetic testing (80.4%) was shown. Higher education, being secular, and native-born Israeli predicted testing performance. Half of the tested participants reported that they did not understand the test results and were interested in receiving explanations regarding these results. Forty-four percent of respondents were interested in receiving genetic information from an MCH nurse. CONCLUSIONS: A high rate of genetic testing performance was reported. The public reported lack of information regarding genetic tests and their results. An appropriate setting for providing this information is the maternal-child health clinics.

Adult↗
PubMedDate not supplied

Attitudes and psychological impact of genetic testing, genetic counseling, and breast cancer risk assessment among women at increased risk.

PURPOSE/OBJECTIVES: To review research related to the psychological functioning of women with family histories of breast cancer, the impact of genetic counseling on women at increased risk, and their participation in and description of breast cancer risk evaluation programs. DATA SOURCES: Published articles and material from the World Wide Web. DATA SYNTHESIS: Findings from these sources suggest an underlying level of psychological distress in women with family histories of breast cancer. This may either increase or decrease their surveillance practices. With the onset of commercial genetic testing for BRCA1 and BRCA2, researchers have studied some of the initial psychosocial effects of genetic information on women at high risk. CONCLUSIONS: Women with family histories of breast cancer have a very high interest in genetic testing for BRCA1 and BRCA2 mutations. They have an underlying level of psychological distress that is not relieved by genetic counseling. They tend to state reasons for wanting and not wanting testing that are not polar opposites. Women who attend breast cancer risk assessment programs tend to be self-referred, Caucasian, well-educated, and of middle or upper income status. Large gaps exist in the research on women of color and those who are less educated and of lower socioeconomic status. IMPLICATIONS FOR NURSING: Nurses and other healthcare professionals should tailor care given to women at increased risk for hereditary breast cancer by using the current information related to their emotional and medical needs. Decisions regarding genetic testing, genetic counseling, and breast cancer risk assessment are highly individualized. Thus, healthcare professionals should be cautious regarding any generalizations about women at risk for breast cancer.

Adaptation, Psychological↗
PubMed2005

Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer.

PURPOSE: To evaluate attitudes about the benefits, limitations, and risks of genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and explore testing intentions in African American women at increased risk for hereditary breast cancer. METHODS: Attitudes and intentions were evaluated by telephone in African American women (n = 74) at moderate and high risk for having a BRCA1/2 mutation. RESULTS: Attitudes about the benefits of genetic testing were endorsed at a higher rate relative to limitations and risks; however, only 30% of respondents indicated that they would definitely have testing. In regression analysis, women most likely to be considering testing were those with fatalistic beliefs about cancer and those who believed they had a BRCA1/2 mutation. Women who had two or more affected relatives were also most likely to be considering testing. Women who had a personal history of cancer and those who believed they were at high risk for developing breast cancer were most likely to report greater limitations and risks. Pros scores were higher among women older than age 50 and those who were unemployed. CONCLUSION: Although African American women at moderate and high risk for BRCA1/2 mutations report favorable attitudes about genetic testing, interest in testing may be limited. Women affected with cancer and those who believe they are at a higher risk for developing breast cancer may be most concerned about the negative consequences of testing. Increased attention may need to be given to beliefs about genetic testing and testing motivations during genetic counseling with African American women.

Black or African American↗
PubMedDate not supplied

The individual, the family, and genetic testing.

Genetics plays a role in every disease, yet few health care providers understand basic genetic principles or the science underlying the genetic testing process. An understanding of the science behind genetic advances is necessary, and it is equally important for health professionals to have an understanding of the complex nature of genetic testing for individuals and their families. Much of the debate about the psychological effects of genetic testing has occurred in the absence of empirical data on diseases for which predictive testing has only recently emerged. This article will review selected literature on genetic testing and its implications for the individual and the family. The responses of families and individuals to the diagnosis of a genetic disease will be reviewed, and Huntington disease will be used as the paradigm for examining issues related to genetic testing for adult-onset cancers. Literature addressing the response to genetic susceptibility for adult-onset cancers and the implications of testing children also will be explored. Finally, identification of emerging issues relevant to genetic screening will provide a framework for identifying needed nursing research in genetic testing for adult-onset cancer risk.

Adult↗
PubMed2004

Should children and adolescents undergo genetic testing?

Genetic testing comes in many shapes and sizes. The decision to undergo genetic testing must involve consideration of the medical, psychosocial, and reproductive benefits and risks of testing. The evaluation of risks and benefits varies significantly both between and within families. Pediatricians should keep up with the rapid advances in genetic medicine and the myriad of tests that are being developed and marketed. They also need to be familiar with the psychosocial risks and benefits that these new tests generate for individuals, families and communities. In some situations, genetic testing is merely another diagnostic tool; in other situations, genetic testing offers information about the risks for future diseases. Pediatricians need to be knowledgeable about tests that are indicated clinically and their potential psychosocial implications to best serve children, adolescents, and their families.

Adolescent↗
PubMed2002

[The development and clinical implication of genetic tests].

Genetic testing is not performed as often as other clinical laboratory tests currently available. However, physicians will in the future be eager to analyze and diagnose the diseases at a genetic level, since the DNA sequence analysis of the human genome has been completed. Moreover, information on single nucleotide polymorphisms in disease susceptibility and drug responsiveness is increasing, and genetic testing based on this information will be utilized for the prevention of disease and order-made medicine. Hence, the demand for genetic tests will increase in the near future. In this review, the development and clinical implication of genetic tests will be discussed.

Disease Susceptibility↗
PubMed2005

The effects of a genetic information leaflet on public attitudes towards genetic testing.

Genetics opinion surveys often include information to ensure that respondents have sufficient understanding to give informed responses. The information is assumed to be neutral but may skew responses. We assessed the impact of a seemingly "neutral" information leaflet on attitudes towards genetic testing among 1,024 survey respondents, half of whom received the leaflet. The leaflet group reported higher levels of subjective understanding of genetic testing (68 percent vs. 53 percent), were mre interested in genetic testing (81 percent vs. 77 percent), and held more positive attitudes towards genetics than people who did not receive the leaflet. Information leaflets may have the intended effect of increasing understanding, but may also unintentionally influence reported views of genetics. In the light of the weight given to public consultation in today's governance and regulation of human genetics, increased awareness of how even seemingly neutral information can influence public attitudes is recommended.

Adult↗
PubMed1997

Compromised consent: deficiencies in the consent process for genetic testing.

Genetic tests are available for an increasing array of disorders. Although the doctrine of informed consent requires that physicians provide sufficient information to patients in advance of testing and allow them to make decisions in a noncoerced way, some studies have shown that physicians do not provide adequate information about the nature of genetic testing and its risks. Some physicians test patients without their consent. This article recommends that physicians address the limitations on their knowledge about genetics and about life with genetic disorders. It also analyzes how the informed consent process for genetic testing can be improved.

Attitude to Health↗
PubMed2003

Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing.

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt for undergoing frequent surveillance and/or prophylactic surgery. However, the option to know about one's genetic status is not always seen as a benefit by women at risk. Motives for declining genetic testing were explored in 13 women at 25% or 50% risk to be a BRCA1/BRCA2 mutation carrier, who participated in a surveillance program for breast/ovarian cancer (the non-tested group). We hypothesized that high anxiety might be an important motive to decline testing. In addition, we investigated whether the non-tested group differed from a reference group of women who did undergo the test (tested group; n = 85) with regard to biographical factors, experience with cancer in relatives, and personality traits. Most non-tested women (10/13) were satisfied with participating in the surveillance program. Four reported to feel emotionally unprepared to cope with the consequences of testing. Compared with the tested group, the non-tested women had similar mean distress levels (which were not high), but a higher education level, they were more often childless, showed more reluctance towards prophylactic surgery, were younger when first confronted with a relative affected with breast/ovarian cancer, and were longer aware of the genetic nature of the disease. This study showed that women were more likely to have thoroughly reflected on their decision not to undergo genetic testing, than to deny the whole issue due to high anxiety. Being confronted at a relatively young age with breast/ovarian cancer in a relative, and being aware of the genetic risk for a many years, may have resulted in the risk for cancer becoming an integrated part of their lives. However, generalization of these results to women who neither underwent the test nor participated in a surveillance program should be considered with caution.

Adult↗
PubMed2001

Genetic testing and genetic counseling for deafness: the future is here.

Today, genetic testing is an option for individuals who have deafness and hard-of-hearing conditions (D/HOH) and their families for diagnosis and carrier detection. As more and more D/HOH genes are identified, genetic testing will become commonplace. However, genetic testing is different from other tests that physicians commonly order and therefore should be conducted differently. The objective of this study was to determine the best manner in which to conduct genetic testing for individuals who have D/HOH. Numerous studies have shown that pretest and post-test genetic counseling is beneficial for patients and families undergoing genetic testing for a variety of conditions. The need for counseling was emphasized by our recently completed study in which we found that the majority of individuals whose children had genetic testing for D/HOH had a poor understanding of many genetic issues concerning recurrence risks for D/HOH and the meaning of the test results. We think that genetic counseling should be an integral part of genetic testing for individuals who have D/HOH.

Adult↗
PubMed2005

Ethical issues in genetic testing.

Genetic testing is becoming ever more prevalent in the post-genome project practice of medicine. Subsequently, genetic testing for disorders lacking any therapeutic interventions is also becoming more prevalent. This article will examine some of the ethical challenges raised by our ability to know but not to cure.

Genetic Counseling↗
PubMedDate not supplied

Ethical issues in genetic testing.

Genetic factors contribute to risk for disease. Information clarifying risk in an individual and his/her family members can be identified through clinical screening and genetic testing. In some circumstances, this information can be used in clinical decisions about surveillance and prevention or treatment of disease. However, use of this information is not always a straightforward process. Application of knowledge about risk of genetic disease in provision of primary health care for women requires understanding of new genetic discoveries as well as the ability to participate in resolution of ethical dilemmas that may result when genetic screening and testing are considered. These dilemmas arise not only from the current state of knowledge about genetic risk factors and utility of genetic tests but also result from conflicts that can arise when the needs of the client are not in unison with needs of others within the family or society. Ethical theories and principles provide a framework for resolving ethical dilemmas in maternal screening for genetic conditions during a pregnancy, carrier testing prior to or during a pregnancy, clinical genetic testing, and newborn metabolic screening.

Attitude to Health↗
PubMed1992

Discrimination as a consequence of genetic testing.

Genetic discrimination refers to discrimination directed against an individual or family based solely on an apparent or perceived genetic variation from the "normal" human genotype. We describe here the results of a case history study designed to assess whether or not genetic discrimination exists. Using the above definition of genetic discrimination and applying stringent criteria for case selection, we find that genetic discrimination exists and is manifested in many social institutions, especially in the health and life insurance industries. Stigmatization, and denial of services or entitlements to individuals who have a genetic diagnosis but who are asymptomatic or who will never become significantly impaired, is noted. Follow-up comprehensive studies on the significance and varieties of genetic discrimination are needed. In order to avoid creating a new social underclass based on genetic discrimination (the "asymptomatic ill"), existing and future genetic testing or screening programs need review by medical, scientific, legal, and social policy experts, as well as the public, and may require modification.

Adult↗
PubMed1998

The use of genetic tests and genetic information by life insurance companies: does this differ from the use of routine medical information?

Questions regarding insurance companies' access to and use of genetic test results and genetic information have been raised since the advent of the Human Genome Project. The ability to place applicants of similar risks in groups, a process known as underwriting, is critical to the availability and affordability of individually underwritten life, disability income, and long-term care insurance. This paper focuses on how life insurance companies use medical information and particularly genetic test results and other genetic information in the risk assessment process. Issues and concerns raised about differences between routine medical information and genetic information are addressed and policies with regard to privacy and confidentiality are presented.

Confidentiality↗
PubMed2002

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience.

AIMS: A major breakthrough in the molecular genetics of hypertrophic cardiomyopathy (HCM) has made genetic testing now available in clinical practice, raising new questions about its implications, potential benefits, and the organisation of the procedure. The aim of this work was (1) to discuss the different questions related to genetic testing in HCM, and propose guidelines for the different situations, (2) to report our preliminary experience with a specific procedure. METHODS AND RESULTS: The main questions asked by patients and relatives concern presymptomatic diagnosis and prenatal counselling/diagnosis, while clinicians sometimes discuss diagnostic and prognostic testing. To take into account the complex medical and psychological implications of this new approach, we developed a specific, multidisciplinary, and multiple step procedure, including a cardiologist, a geneticist, and a psychologist. Seventy subjects were examined, including (1) 29 adults for presymptomatic diagnosis (of whom 10 left the procedure after the first visit and 19 continued, among whom six had a mutation and two experienced negative psychological impact, observed during follow up), (2) nine couples of parents for presymptomatic diagnosis in their children (the procedure was stopped after the first visit in eight and continued in one), (3) 22 couples for prenatal counselling (no prenatal genetic testing was asked for after the first visit), and (4) 10 subjects for diagnostic testing. We decided to perform no prognostic testing. CONCLUSION: Our preliminary experience confirms the complexity of the situation and suggests the necessity for a specific procedure to ensure good practice in genetic testing of HCM.

Adolescent↗
PubMedDate not supplied

Insurance for the insurers. The use of genetic tests.

Genetic testing raises concerns that individuals will be denied health insurance (and thus, effectively, access to health care), or that employers will screen to eliminate potentially costly workers. Although we as a society do not yet concur on the degree to which private businesses have a responsibility to promote social justice, several different policy alternatives might allow us to weigh the interests of insurers, as businesses, against the interests of citizens in a responsible manner.

Eligibility Determination↗