PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Genetic testing”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 793 records · Page 44Linked to original sources
PubMedDate not supplied

Newborn screening and genetic testing.

Mandated newborn screening programs for genetic and other congenital conditions for the some 4 million infants born in the United States each year have seen dramatic changes over the past decade. With the mapping of the human genome and other advances in science and technology, there will be continued challenges to and changes in these programs. Nurses who care for infants and their families should be knowledgeable about those changes to correctly transmit information to families and to participate in determining policy for newborn screening practices.

Acyl-CoA Dehydrogenase↗
PubMed1993

Reproductive genetic testing: regulatory and liability issues.

Analysis of current law demonstrates that the responses of state and federal governments and the legal system to reproductive genetic testing both have shaped the development of and reflect society's views about these techniques. Access to testing has been increased by governmental provision of services and enactment of insurance requirements and by the state courts' frequent approval of individual litigants' claims that they were inappropriately denied genetic information. Many state legislatures, however, have tried to limit testing by failing to provide funds, by forbidding private lawsuits and by limiting access to abortion.

Abortion, Eugenic↗
PubMed2000

Likelihood of undergoing genetic testing for cancer risk: a population-based study.

BACKGROUND: Studies on public perceptions of genetic susceptibility testing for cancer risks are few and tend to focus on specific cancer risks of higher-risk populations, ignoring the general population and their perceived risk of getting any cancers. This study develops and tests a psychosocial model of the proximal and distal influences on likelihood of undergoing genetic susceptibility testing for cancer risk among a population-based sample. METHODS: The sample consisted of 622 adults aged 18-75 interviewed by telephone. The survey instrument included measures derived from the Health Belief Model and adaptations of existing measures from the literature. Data were analyzed using structural equation modeling techniques. RESULTS: The model suggested independent main effects for perceived benefits, perceived barriers, perceived susceptibility, and pessimism while simultaneously accounting for the effects of age, socioeconomic status, family history of cancer, and awareness of the existence of genetic susceptibility testing for cancer risk. The model explained 34% of the variance in likelihood. CONCLUSIONS: While perceived benefits, perceived barriers, perceived susceptibility, and pessimism may directly impact likelihood, they may also mediate the effects of age, socioeconomic status, family history of cancer, and awareness of cancer genetic susceptibility testing, on likelihood.

Adolescent↗
PubMed2005

Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales.

The purpose of this study was to assess the impact of genetic self-knowledge (nondisease genotype information) on individual self-concept and Health Orientation Scale (HOS). Adult volunteers (n=257) were recruited from an ongoing genetic association study identifying muscle quantitative trait loci (QTLs). Participants completed psychosocial assessments before and after 12 weeks of resistance training of the nondominant arm. At study exit, a genetic counselor informed participants of genetic test results on three to four genes that have an association with muscle-related traits, and counseled subjects on the potential significance of these findings. The second psychosocial assessment was performed immediately following this counseling session. The Tennessee Self-Concept Scale v.2 (TSCS:2) and the HOS showed female subjects to have a significantly greater positive change between first and second assessments, relative to male subjects. Most self-concept subscales improved significantly, when 'neutral' genotypes (no anticipated beneficial or deleterious impact) were reported, compared to positive genotypes. TSCS:2 subscales showing improvement included: total (P=0.013); physical (P=0.004); satisfaction (P=0.019); and behavioral (P=0.047). HOS subscales showing improvement included health image concern (P=0.006); and health expectations (P=0.047). In conclusion, these results suggest that genetic self-knowledge affects self-concept, consistent with the 'attribution' theory. Individuals who received neutral genetic information attributed positive changes from the exercise program to their own abilities, while those who received positive information were more likely to attribute positive changes to their genetics. This study is limited by the ability to determine the direction of the impact of nondisease genetic information presented to participants.

Adult↗
PubMed2006

The impact of acculturation on awareness of genetic testing for increased cancer risk among Hispanics in the year 2000 National Health Interview Survey.

Previous studies suggest disparities in use of preventive cancer services among U.S. Hispanics are partly explained by knowledge and access factors. One area of emerging interest is uptake of genetic counseling and testing services by underserved populations. This study aims to estimate the percentage of Hispanics in five ethnic subgroups who are aware of genetic testing for inherited cancer risk, and to assess the influence of acculturation factors primarily related to language on test awareness. Weighted data from 4,313 Hispanic respondents (age >25 years) in the year 2000 National Health Interview Survey were analyzed. Overall, 20.6% of Hispanics had heard of genetic testing for cancer risk, with percentages highest among Puerto Ricans (27.3%) and lowest among Mexicans (14.3%). Completing the interview in Spanish and English [odds ratio (OR), 0.52; 95% confidence interval (95% CI), 0.35-0.78], or only Spanish (OR, 0.60; 95% CI, 0.42-0.86), was inversely associated with test awareness (reference group, only English). Having an intermediate (OR, 0.66; 95% CI, 0.48-0.90) or low (OR, 0.63; 95% CI, 0.39-1.01) level of English language preference was also inversely associated (reference, high level) whereas being born outside the United States was weakly associated (OR, 0.80; 95% CI, 0.57-1.11). Estimates were adjusted for age, education, ethnicity, parents' cancer history, health care access, and selected health behaviors and beliefs. Results of this national survey indicate that acculturation factors related to language may affect cancer genetic test awareness in Hispanics. These factors must be taken into account when informing individuals about the role of genetics in cancer risk and providing cancer genetic health services.

Acculturation↗
PubMed2000

Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction.

The aim of this prospective study was to assess the uptake of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) and its associations with sociodemographic and other factors, and long-term satisfaction with taking the test. The test was offered to all high-risk members (n = 446) of 36 Finnish HNPCC families in which the mutation was known. The procedure comprised an educational counselling session, a period for reflection, and a test disclosure session. Data were collected by questionnaires sent before the educational counselling and 1 month and 1 year after the test disclosure. Of those eligible, 85% (n = 381) completed the first questionnaire study. Non-participation was more common among men living alone who had not participated in the clinical cancer surveillance programme. Of the 347 subjects who attended counselling, 334 (75% of all subjects) were actually tested. After logistic-regression analysis, the only significant factor predicting test acceptance proved to be employment status: those employed were more likely than others to accept the test (odds ratio = 2.25; 95% confidence intervals, 1.09 to 4.6 1). At follow-up, over 90% of the subjects were fully satisfied with the decision to take the test. In conclusion, acceptance of the test was considerably higher than in previously reported studies. We attribute this to our careful face-to-face individualized counselling, our health care system, and to attitudes of the Finnish population, which are generally favourable towards health care and disease prevention.

Adult↗
PubMed1983

The use of life tables and survival analysis in testing genetic hypotheses, with an application to Alzheimer's disease.

Because of the late onset of some neuropsychiatric disorders suspected to be under genetic influence, such as Alzheimer's disease, standard techniques for testing genetic hypotheses are difficult to apply to clinical data. The statistical aspects of life table methods and survival probability estimators which can be used to test such hypotheses have been neglected in the psychiatric literature. Two techniques of this kind, the Weinberg morbidity table and the Kaplan-Meier product limit estimator, are applied to real and simulated data. As estimators of lifetime incidence these methods yield roughly equivalent results for both types of data, although from a theoretical standpoint the original Weinberg estimator appears to suffer from logical defects. Parametric models may offer more definitive results, particularly when an estimator of segregation ratio is required. The clinical data in this report were gathered by interviewing relatives of Alzheimer's disease patients sampled through a nursing home survey in metropolitan Baltimore, Maryland during 1980.

Actuarial Analysis↗
PubMed2003

Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.

PCR-based methods for the detection of homozygous deletion of exon 7 of the SMN1 gene have been widely used in genetic testing for spinal muscular atrophy (SMA). We compared the most commonly used PCRrestriction fragment length polymorphism (PCR-RFLP) assay with an allele-specific PCR method, evaluating their potential application in direct testing, prenatal prediction, and preimplantation diagnosis, in terms of a range of DNA amounts used in such testing. We showed that PCR-RFLP could identify the SMN1 exon 7 by amplifying 10 pg of genomic DNA, and could differentiate SMN1 from SMN2 at the 100-pg DNA level (DraIdigested SMN2 fragments served as an internal control for PCR efficiency). In contrast, allele-specific PCR for SMN1, despite some advantages in a rapid preimplantation diagnosis, quickly lost its specificity when 100 pg of genomic DNA was used. In addition, the absence of a SMN1 fragment at the 10-pg DNA level may be due to a PCR amplification failure, and, thus, it is difficult to interpret without a proper internal control. Our data indicate that PCR-RFLP can be used for most diagnostic purposes, whereas the use of allelespecific PCR may be considered with caution under certain circumstances.

Alleles↗
PubMedDate not supplied

Public attitudes about genetic testing for Alzheimer's disease.

In a general population survey (N = 314), 79 percent of respondents stated that they would take a hypothetical genetic test to predict whether they will eventually develop Alzheimer's disease. The proportion fell to 45 percent for a "partially predictive" test (which had a one in ten chance of being incorrect). Inclination to obtain testing was similar across age groups. Respondents were willing to pay $324 for the completely predictive test. Respondents stated that if they tested positive, they would sign advance directives (84 percent), get their finances in order (74 percent), and purchase long-term care insurance (69 percent). Only a third of respondents expressed concern about confidentiality. The results suggest that people value genetic testingfor personal and financial reasons, but they also underscore the need to counsel potential recipients carefully about the accuracy and implications of test information.

Adult↗
PubMed2000

Genetic testing for Alzheimer's disease.

Genetic factors are important in the development of Alzheimer's disease (AD). Familial AD can result from rare mutations in some genes. Other genes, such as the apolipoprotein E gene (APOE), operate as risk factors for late-onset sporadic AD. On a background of advances in the genetics of AD we suggest a way in which genetic information may be used in the diagnosis of AD. If there is a positive family history of early-onset dementia and the clinical features suggest AD, patients may be tested for presenilin and amyloid precursor protein gene mutations with appropriate pretest and post-test counselling. Predictive testing should be performed under guidelines developed by the World Federation of Neurology and the Human Genetics Society of Australasia. The usefulness of APOE genotyping as an adjunct to conventional diagnostic tests is unknown; data suggest it has low sensitivity and specificity and may have little predictive value in an individual patient. APOE genotyping should not be performed in asymptomatic individuals, except as part of an ethically approved research project; this recommendation is supported by a number of international consensus statements. APOE testing should not be used as a diagnostic test without adequate pretest and post-test counselling, education and support. APOE testing should not be used as a sole diagnostic test in the work-up of patients with AD. Genetic risk factors other than APOE require validation and should not be used routinely, except as part of an ethically approved research protocol.

Aged↗
PubMed1992

Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis.

BACKGROUND: We had the unique opportunity to study families with cystic fibrosis (CF) from an interrelated Amish-Mennonite kindred and from an isolated Hutterite kindred. METHODS: While obtaining blood for DNA linkage analysis to help find the CF gene, we asked family members to answer a questionnaire about attitudes and feelings toward genetic testing. The questionnaire was also administered to families receiving care at the University of Rochester. After DNA-based CF carrier testing was developed, we asked the families whether they wanted to know the results. RESULTS: Each cultural group felt differently about many issues. Between 31% and 78% approved of CF-carrier testing and 14% to 78% approved of prenatal diagnosis. The majority (59%) of Hutterite parents and siblings were opposed to carriers marrying carriers and most (82%) of the CF families wanted to know the results of carrier testing. CONCLUSIONS: Cultural differences need to be understood before genetic services are offered. Also, most CF mutations and their clinical correlates (phenotypes) will need to be defined. There are as few as three CF mutations in the Hutterite population. It will be possible to offer them the option to choose accurate genetic counseling. It will be difficult to offer genetic services to other populations with more heterogeneous attitudes and many more identified and yet-to-be-identified CF mutations.

Abortion, Therapeutic↗
PubMed2006

Newborn screening: complexities in universal genetic testing.

Newborn screening (NBS)--in which each newborn infant is screened for up to 50 specific metabolic disorders for early detection and intervention--is the first program of populationwide genetic testing. As a public health intervention, NBS has greatly improved the lives of thousands of affected children. New technologies and new economic and social forces pose significant ethical and clinical challenges to NBS. Two primary challenges concern (1) accommodating clinical and ethical standards to rapid technological developments in NBS and (2) preparing public health systems to respond to the medical advances and social forces driving expansion of NBS programs. We describe and analyze these challenges through consideration of 3 disorders: phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, and cystic fibrosis.

Acyl-CoA Dehydrogenase↗
PubMed2003

Information-seeking behaviour and psycho-social interactions during the genetic testing process.

OBJECTIVES: The first aim of this study was to investigate the information-seeking behaviour (ISB) of women attending cancer genetic consultations at which the possibility of BRCA testing is considered. We focused here specifically on ISB apart from the cancer genetic consultation, i.e. on what complementary sources of information about genetic testing were consulted and what factors were involved in this behaviour. The second aim was to study the role of the social network used by the patients to collect various opinions on which to base their decisions about being tested. METHODS: A prospective cohort study (2000-2002) was therefore carried out on all women attending a single cancer genetic clinic in France after a BRCA1/2 analysis had been proposed. Closed questionnaires were administered before and after the second cancer genetic consultation. The purpose of this consultation was to confirm the patient's decision to be tested. RESULTS: Results were analysed in 108 subjects (mean age 47 years, SD 11 years; 74% affected by breast/ovarian cancer). Prior to the 2nd consultation, 35.2% of the women had actively looked for information about BRCA1/2 testing, as compared to 25.0% afterwards. After multivariate adjustment by logistic regression, the pre-consultation ISB was found to be associated with greater satisfaction with the information about the psycho-social consequences of genetic testing [adjusted odds ratio (ORadj) 1.03, 95% confidence interval (CI) 1.01-1.06] (scale from 0 to 100) and about the certainty of being a gene carrier (ORadj 3.04, 95% CI 1.16-7.98). Those who actively looked for complementary information were also more often accompanied at the consultation by a family member (ORadj 4.82, 95% CI 1.85-12.56). The other variables tested (depression, coping, socio-demographic and medical characteristics) were not significant (p > 0.05). The role of the social network in the decision making process was perceived as being less helpful when the persons consulted tended to have neutral or unfavourable opinions about genetic testing. CONCLUSIONS: Few women actively sought complementary information about BRCA genetic testing in addition to the cancer genetic consultation. Those who did so differed from the others in terms of their social network and their satisfaction with the consultation. The cancer geneticist is the key actor in women's decision making about genetic testing.

Attitude to Health↗
PubMed2001

Ethical implications of genetic testing for breast cancer susceptibility.

The identification of gene mutations involved in hereditary breast cancer is a major recent scientific discovery, enabling us to identify women at very high risk, and also providing the means to understand the biology of breast cancer and to explore novel preventive strategies. Yet, it carries medical, psychological, ethical and social implications. This paper is a review of all the ethical implications of genetic testing for breast cancer predisposition, as well as an attempt to discuss the more philosophical questions of women facing BRCA testing. To what extent does the individual benefit from genetic knowledge? Some women look with trepidation upon the potential of planning their life in view of a risk, while others believe that only through knowledge and awareness we can improve control of our life. The risk of breast cancer may be qualitatively so important to justify all the potential risks of finding out about it.

Adoption↗
PubMed2002

Genetic testing.

Explore the source record for details and available documents.

Female↗
PubMed2003

Genetic testing and primary care: a new ethic for a new setting.

For several decades, clinical geneticists have espoused two key ethical principles, nondirectiveness and confidentiality. These principles made a great deal of sense in the highly personal and controversial setting of reproductive genetics. Now that clinical genetics has entered the primary care setting, clinicians are rethinking the strength of their commitment to these traditional norms and they are revamping their ethical priorities. Patients increasingly need advice about whether they should take genetic tests and whether and how they should respond to the test results. Patients also need to know about how this information will impact family members and whether other members of their family should be tested. Clinical geneticists may even consider breaking individual confidentiality in order to prevent harms to family members. Although clinical geneticists do not need to abandon nondirectiveness and confidentiality in this new setting, they may not strictly adhere to these principles in some circumstances in order to benefit patients and their families.

Confidentiality↗