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PubMed2000

How men view genetic testing for prostate cancer risk: findings from focus groups.

OBJECTIVE: To determine the values, beliefs, and attitudes that influence a man's intention to undergo or defer genetic testing for prostate cancer risk. DESIGN: Qualitative, using focus group interviews 12 focus groups were conducted to identify key values and beliefs about genetic testing for prostate cancer risk in anticipation of its future availability. SETTING: Medium-sized, mid-west, US city. PARTICIPANTS: Community sample of 90 lay men of diverse educational, ethnic, and age backgrounds. ANALYSIS: Descriptive statistics and immersion/crystallization to identify themes and sub-themes. RESULTS: The major areas of concern were distilled into the following. THEMES: beliefs about consequences, expectations, benefits for patients, beliefs about barriers, and susceptibility concerns. CONCLUSION: Identifying these men's values will help health professionals anticipate the informational and ethical needs of patients in the informed consent process. Men will need to understand how such testing may affect their planning regarding future prostate health, and how medical information is used outside of the physician patient relationship.

Adolescent↗
PubMedDate not supplied

Genetic testing: implications for professional nursing.

Scientific information emerging from human genome research has significant implications for the practice of professional nursing. Professional nurses assist individuals in making decisions about DNA studies, ensure that consent is informed before genetic testing, and help clients cope with genetic information after test results are known. Nurses with advanced education in genetics identify and counsel people who are candidates for DNA testing. Gene identification can have beneficial as well as harmful outcomes. Education is needed to prepare nurses for new roles regarding genetic testing.

Adaptation, Psychological↗
PubMed2005

Molecular genetic testing of polymorphisms associated with venous thrombosis: a review of molecular technologies.

The growing knowledge of genetic polymorphisms predisposing to venous thrombosis has increased the demand for genetic testing of associated risk factors. This has prompted the need for simple, fast, reliable, and cost-effective genotyping methods for identification of those mutations. In the past decade, a large variety of DNA mutation analysis methods have been developed for detection of genetic variants associated with venous thrombosis, including PCR-based and PCR-independent technologies. Each of these technologies possesses unique advantages, but all have a common goal of simplifying and expediting mutation analysis. This review describes some of the commonly used technologies and commercially available platforms employed in clinical laboratories for genetic testing of thrombophilia. The choice of a technology for each individual laboratory would primarily depend on the specific requirements for the assay's accuracy, reliability, speed, throughput, and cost-effectiveness.

DNA Mutational Analysis↗
PubMed1999

Costs, benefits and limitations of genetic testing for cancer risk.

There has been considerable progress in the identification of predisposing genes involved in many of the rare familial cancer syndromes and in a proportion of the common cancers. Genetic testing for cancer risk is now part of good medical practice in a number of cases, allowing specific cancer screening and prevention to be targeted to those with the greatest need. In some situations, the advantages of testing are less obvious, and careful evaluation of the costs and benefits of testing, and the efficacy of any subsequent intervention, is essential. In the meantime, it is clear that structures must be set up to evaluate demand for testing and deal with it; to inform and educate the public and doctors so that demand is based on understanding of what genetic tests can do; to provide action on test results and to advise and support individuals before and after testing.

Cost-Benefit Analysis↗
PubMed2003

Complementary medicine use among women enrolled in a genetic testing program.

The purpose of this study is to explore complementary and alternative medicine (CAM) use and factors influencing CAM use by women enrolled in a genetic testing program for predisposition to breast/ovarian cancer. A cohort of 236 high-risk women completed baseline questionnaires at enrollment into BRCA1/2 testing program. CAM use and correlates of use were assessed using logistic regression models. CAM was used by 53% of the overall cohort. Cancer survivors reported significantly more use of complementary treatments than did unaffected women (61 versus 42%; P < 0.05). Participants had good overall health behaviors; daily fruit/vegetable consumption was significantly related to CAM use. Increased depression level, knowledge of cancer genetics, and frequency of breast self-examination were significantly associated with using CAM for cancer survivors. Among unaffected women only, cancer risk perception and sunscreen use were significantly correlated with CAM use. Recognition of heightened breast cancer risk is correlated with increased complementary therapy use by unaffected women undergoing genetic testing for cancer predisposition but not to the extent that cancer survivors use these strategies. Any potential effects of the genetic information itself on CAM use, and any possible relationship of CAM use to other risk reduction behaviors, require further research.

Adolescent↗
PubMed1999

Genetic testing and employee protection.

Given advances in the science of genetics it is increasingly possible for individuals to acquire an increased understanding about their DNA. Employers may wish to access such information or may request that employees participate in genetic testing. An examination of the UK legislative framework to accommodate or to prevent such demands raises concern about the need to balance the employer's economic interests and the autonomy of the employee.

Persons with Disabilities↗
PubMedDate not supplied

Decision-making about genetic testing among women at familial risk for breast cancer.

OBJECTIVE: Recent identification of the breast-ovarian cancer susceptibility gene BRCA1 and the breast cancer susceptibility gene BRCA2 have raised the possibility of clinical genetic testing for breast cancer susceptibility. This study examined decision-making about future susceptibility testing among women at familial risk for breast cancer. Based on the transtheoretical model, it was hypothesized that readiness to undergo testing would be related to the ratio between the perceived advantages (pros) and disadvantages (cons) of learning one's susceptibility status. METHODS: Seventy-four women with one or more first-degree relatives with breast cancer were recruited before a routine mammogram. Participants completed measures assessing readiness to undergo testing, perceived pros and cons of testing, and perceived breast cancer risk. Family history data was used to calculate empiric genetic risk of developing breast cancer. RESULTS: Forty-six per cent of participants planned to seek genetic testing as soon as possible, 35% planned to seek testing in the future, and 19% did not plan to seek testing. As expected, greater readiness to undergo testing was associated with a positive decisional balance (pros > cons). Older age and greater perceived risk (but not empiric risk) also were associated with greater readiness. CONCLUSION: The readiness of many women to seek breast cancer susceptibility testing can be attributed, in large part, to their perceptions that the advantages outweigh the disadvantages. Examination of these perceptions suggests that notification of carrier status may have significant effects on women's psychological well-being and breast cancer surveillance and prevention behaviors.

Adult↗
PubMed2001

Genetic testing in acute and chronic pancreatitis.

Hereditary pancreatitis (HP) is clinically indistinguishable from pancreatitis with other causes. Patients with HP have an increased chance of developing pancreatitis. Mutations in the cationic trypsinogen gene appear to cause most HP, although there is evidence for mild genetic heterogeneity with defects in other genes. Trypsin stabilization and protection from autolysis appear to play a central role in the pathogenesis of pancreatitis. The role of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) as well as the pancreatic secretory trypsin inhibitor (PSTI) in patients with pancreatitis is intriguing but as yet incompletely understood. Genetic testing may help to identify and manage patients with HP. Healthcare professionals should understand the elements necessary for obtaining informed consent for patients undergoing these tests, the limits in interpreting test results, and the psychosocial issues that may arise from genetic testing.

Acute Disease↗
PubMed1997

Sons of men with prostate cancer: their attitudes regarding possible inheritance of prostate cancer, screening, and genetic testing.

OBJECTIVES: To study attitudes regarding possible inheritance of prostate cancer among sons of men with prostate cancer. METHODS: A questionnaire was sent to 69 men with prostate cancer and their 101 unaffected sons. All participants were also interviewed by telephone. Sociodemographic data were collected, as were data about the fathers' disease. RESULTS: The response rate was high; 100 sons (99%) and 65 fathers (94%) answered all questions. Sixty of the sons claimed they had worries about having an increased risk of prostate cancer due to possible inheritance. About 90% of the sons wanted to know whether prostate cancer was inheritable (66 definitely and 24 probably), were positively inclined to undergo screening (65 definitely and 27 probably), and to undergo genetic testing (50 definitely and 41 probably), provided there had been multiple cases of prostate cancer in their family. An interest to know whether prostate cancer could be inherited was more frequent among sons with less than 12 years of education, worries about inheritance, younger age, a father treated with curative intent, and with children of their own, especially if sons. Interest in genetic testing was associated with less than 12 years of education and with worries about inheritance. CONCLUSIONS: A large majority of healthy men with a family history of prostate cancer were interested in knowing whether the disease could be inherited and were positively inclined to undergo screening and genetic testing. Our findings indicate that genetic counseling and a screening program could have beneficial psychological effects in families with multiple cases of prostate cancer.

Adult↗
PubMed2005

[Genetic testing].

Mechanisms of human diseases have been elucidated along with the progress of the Human Genome Project, which has enabled accurate genetic testing towards personalized medicine. Besides the examination of an individual gene, RNA profiling, epigenetic test and molecular karyotyping have been applied to analyze clinical specimens. Current status of genetic testing technologies are briefly summarized, together with future perspectives.

Female↗
PubMed1999

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.

Two patients who presented at birth with neonatal diabetes mellitus (NDM) are described: one with paternal uniparental disomy for chromosome 6 and one with normal, biparental inheritance. The first child presented with low birth weight, macroglossia, hypertelorism, and club foot in addition to NDM. In this patient hyperglycemia was transient, and insulin treatment was discontinued at 4 months of age. The second child also presented with low birth weight but was normal in appearance, and insulin dependence continues after 5 years. Genetic analysis with polymorphic DNA markers for chromosome 6 indicated the presence of paternal uniparental disomy (UPD) in the first case and normal, biparental inheritance in the second case. Paternal UPD 6 has been reported in 8 previous cases of which 6 showed NDM. Three cases with paternal UPD 6 also included additional anomalies, such as macroglossia, not usually associated with NDM. Therefore the simultaneous finding of NDM and macroglossia should be a strong indicator for genetic testing. The genetic finding of paternal UPD 6 allows prediction of a transient, rather than permanent, form of diabetes mellitus and no increased recurrence risk of transient NDM in subsequent pregnancies.

Aneuploidy↗
PubMed2001

Communicating genetic test results to the family: a six-step, skills-building strategy.

As the availability of tests to identify hereditary predisposition to chronic diseases continues to grow, a need has arisen to prepare individuals receiving genetic test results to share this highly sophisticated and value-laden information with other at-risk family members. Responding to this need, a communication skills-building intervention, based on Buckman's model of "Breaking Bad News," was developed for use in the setting of genetic testing for BRCA1 and BRCA2 mutations. Outcomes will include knowledge, attitudes, and health behavior on the part of both the proband and her first-degree relatives.

Adaptation, Psychological↗
PubMed2002

Likelihood of attending bowel screening after a negative genetic test result: the possible influence of health professionals.

This study was undertaken to determine the extent to which the reported likelihood of attending future bowel screening following negative genetic testing results for familial adenomatous polyposis (FAP) varies between the type of health professional providing care and the country of testing. The study subjects were 103 unaffected adults at risk for FAP who received negative results following predictive DNA testing. Our study indicates that the reported likelihood of attending bowel screening was higher in those given results by nongenetics physicians, rather than by genetics professionals; the reported likelihood of attending bowel screening under these circumstances was also higher in the UK than in Australia. Both of these results were affected by the perceived chances of developing FAP, and, in the case of the country of testing, by the perceived accuracy of the genetic test result and the perceived seriousness of the disease. How and what health professionals communicate with patients about genetic testing may explain the differences between type of health professional and country of testing and attitudes toward bowel screening. If this is the case, training in communication may change patients' perceptions and, in turn, their behavioral intentions and actions following a negative test result.

Adenomatous Polyposis Coli↗
PubMed2000

Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs.

PURPOSE: We examined the ability of individuals undergoing genetic testing for cancer susceptibility in two structured research protocols to accurately anticipate emotional reactions to disclosure of their test result. We explored whether accuracy of emotional anticipation was associated with postdisclosure psychologic adjustment. METHODS: Data from 65 individuals were analyzed; 24 members of Li-Fraumeni cancer syndrome families were tested for p53 mutations (all 24 were unaffected), and 41 subjects with hereditary breast-ovarian cancer susceptibility were tested for BRCA1 mutations (34 were unaffected and seven were affected). Subjects were from families in which a germline mutation had been previously identified. At the pretest session, subjects rated the extent to which they anticipated feeling each of six emotional states (relief, happiness, sadness, guilt, anger, and worry) after disclosure that they did or did not carry the familial mutation. After receiving their test result, they rated their feelings on the same scale of emotions for the appropriate condition. Extent of accuracy and association with psychologic distress at 6 months, as assessed with standardized measures, were evaluated. RESULTS: Overall, mean levels of emotional reactions after receiving test results were not different from those anticipated before result disclosure. However, affected BRCA1 carriers experienced higher levels of anger and worry than they had anticipated. Underestimation of subsequent distress emotions related to test result was associated with a significant increase in general psychologic distress at 6 months. CONCLUSION: Unaffected individuals in cancer-predisposition testing programs are generally accurate in anticipating emotional reactions to test results. However, cancer patients may underestimate their distress after disclosure of positive results and could benefit from intervention strategies.

Adult↗
PubMed2005

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but the relative contribution of the many other genes is not known, especially in the outbred UK population. This lack of knowledge hampers the development of diagnostic genetic services for deafness. In an effort to determine the molecular aetiology of deafness in the population, 142 sib pairs with early-onset, non-syndromic hearing impairment were recruited. Those in whom deafness could not be attributed to GJB2 mutations were investigated further for other mapped genes. The genetic basis of 55 cases (38.7%) was established, 33.1% being due to mutations in the GJB2 gene and 3.5% due to mutations in SLC26A4. None of the remaining 26 loci investigated made a significant contribution to deafness in a Caucasian population. We suggest that screening the GJB2 and SLC26A4 genes should form the basis of any genetic testing programme for childhood deafness and highlight a number of important issues for consideration and future work.

Cadherin Related Proteins↗