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PubMed2006

Predictors of belief that genetic test information about hemochromatosis should be shared with family members.

We queried 101,951 white, Hispanic, black, Asian, American Indian (i.e., American Indian or Alaska Native in the United States and North American Indian, Metis, or Inuit in Canada) and Pacific Islander (including Native Hawaiian) adults who agreed to be genotypically and phenotypically screened for hemochromatosis as part of the Hemochromatosis and Iron Overload Screening (HEIRS) study about their views on sharing genetic test information with family members. Multiple logistic regression (adjusting for study site, age group, race/ethnicity, preferred language, gender, education group, income group, SF-36 General Health and Mental Health subscales, perceived benefits and limitations of genetic testing, and belief that genetic testing is a good idea) evaluated independent predictors of responding "Strongly Agree" or "Agree" versus "Disagree" or "Strongly Disagree" to the statement "Information about a person's genetic risk should be shared with family members". Agreement that genetic risk information should be shared with family members was high (93% in the overall sample of 78,952 who answered this question), but differed among racial/ethnic groups. Hispanics were significantly less likely to agree that genetic test information should be shared with family members (i.e., 88% versus 92% or more among all other ethnicities). The relationship of perceived limitations and benefits of testing, gender, and age group to the belief that information should be shared differed among racial/ethnic groups, with Spanish-preferring Hispanics being the most different from other subgroups.

Cross-Cultural Comparison↗

PubMed2002

Genetic testing for hearing loss: different motivations for the same outcome.

The recent discoveries of genes involved in deafness open new options for families and individuals with hearing loss. Our aim was to learn if parents of children with hearing loss will benefit from these new possibilities. A total of 139 parents answered questionnaires aimed at evaluating their intentions as well as their reasons to opt for or against genetic testing and prenatal diagnosis for hearing loss. A very high interest (87%) in genetic testing was found among Israeli Jewish parents of deaf and hard-of-hearing children. Although the Jewish population in Israel is very diverse in its religious beliefs, this high interest was similar across all religious sectors (secular, traditional, orthodox, and ultraorthodox); however, some of the reasons for undertaking such a test were very different between them. Reasons related to family planning and prenatal diagnosis were significantly less important to parents from the ultraorthodox sector, but the possibility to utilize genetic testing for matchmaking the children with hearing loss and their hearing siblings was an important factor in motivating them to undertake the test. Parents from all religious sectors wished testing would shed light on the cause of the hearing loss. We conclude that genetic testing would be welcomed by a wide range of communities, including those that usually do not apply for genetic counseling and testing, if it is offered in accordance with their cultural norms and beliefs.

Abortion, Induced↗

PubMed2005

Facilitating family communication about predictive genetic testing: probands' perceptions.

The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband.

Adult↗

PubMed2006

Cancer genetic testing and assisted reproduction.

PURPOSE: Because of increasing uptake of cancer genetic testing and the improving survival of young patients with cancer, health care practitioners including oncologists will increasingly be asked about options for assisted reproduction by members of families affected by hereditary cancer syndromes. Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations. METHODS: A review of the published literature supplemented by a survey of PGD centers in the United States. RESULTS: Prenatal diagnosis and/or embryo selection after genetic testing has already been performed in the context of more than a dozen familial cancer syndromes, including the common syndromes of genetic predisposition to colon and breast cancer. CONCLUSION: While constituting new reproductive options for families affected by cancer, the medical indications and ethical acceptance of assisted reproductive technologies for adult-onset cancer predisposition syndromes remain to be defined. Continued discussion of the role of PGD in the reproductive setting is needed to inform the responsible use of these technologies to decrease the burden of heritable cancers.

Breast Neoplasms↗

PubMed2000

Families at risk for colorectal cancer: risk assessment and genetic testing.

As befits a common cancer, a family history of colorectal cancer (CRC) is reported by about 10% of individuals. The discovery of the genetic basis of hereditary nonpolyposis CRC and familial adenomatous polyposis has opened up the possibility for determining genetic predisposition to CRC in asymptomatic family members of affected cases. This article reviews the information needed for accurate risk assessment for those with a family history of CRC. Screening recommendations and the current status of genetic testing, including review of available tests such as microsatellite instability, immunohistochemistry for hMSH2 and hMLH1, testing for I1307K, and gene testing for germline mutations in hMSH2 and hMLH1 are discussed. At the current time, reliable, informative genetic testing, capable of application to broad segments of the population, is an unrealized goal. But as the methodology for testing improves and as better appreciation of the significance and meaning of a positive or negative test result ensues conditions for increased use of genetic testing could emerge.

Adaptor Proteins, Signal Transducing↗

PubMed2003

Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: an integrative review.

The identification of the BRCA1/2 genes, and their possible etiologic relationship with various forms of inherited cancer, has been recognized universally as a cornerstone in the search for cancer's genetic link and has made it possible to identify specific individuals and families who harbor a mutation in one of these predisposition genes. Genetic testing for breast and ovarian cancer susceptibility may pose unanticipated psychological and social problems. Because of the recent availability of predisposition genetic testing, research efforts have begun to investigate factors that may influence an individual's intention to undergo testing and the psychosocial sequelae associated with testing. The purpose of this article is to provide an integrative review of the literature that will delineate what is currently known about the psychosocial issues associated with genetic testing for breast and ovarian cancer risk. Important generalizations from the literature include: (a) a positive test for breast cancer susceptibility may ignite a psychological response similar to the diagnosis of breast cancer itself; (b) there is likely a subset of individuals at increased risk for hereditary breast and ovarian cancer who are also at risk for sustained psychosocial problems; (c) available literature challenges a common notion that only individuals with a positive test result will need psychosocial services; and (d) at-risk individuals are basing health care decisions on genetic testing information, thus they are making important decisions under conditions of uncertainty. Clinical issues and directions for future research were highlighted.

Breast Neoplasms↗

PubMed1998

Genetic test for myophosphorylase deficiency in Charolais cattle.

OBJECTIVE: To develop a simple test for the determination of genetic susceptibility to myophosphorylase deficiency in Charolais cattle. ANIMALS: 48 adult Charolais cattle and 233 calves from one herd and 3 Charolais cattle from 2 other herds. Sixty Piedmontese and 34 Saler cattle provided negative-control samples. PROCEDURE: Cattle were from a Charolais herd in which myophosphorylase deficiency was identified and 2 other herds in which cattle had signs compatible with the disease. Genomic DNA was isolated from heparinized blood samples. A segment of the myophosphorylase gene containing the mutation site was amplified by polymerase chain reaction assays, and the genotype (normal vs affected allele) was determined by using restriction enzyme and agarose gel electrophoretic analysis. RESULTS: The 3 myophosphorylase genotypes (homozygous normal, homozygous affected, and heterozygous) could be readily identified. Segregation of the affected allele could be determined in an extended pedigree, and all clinically affected cattle were homozygous for this allele. Determination of the distribution of normal and affected alleles in a large population did not indicate a strong selective advantage for heterozygous carriers in this herd. Heterozygotes were also identified in Charolais cattle from the 2 other herds. CONCLUSIONS: Breeders of Charolais cattle can use this genetic test to perform marker-assisted selection and remove cattle with the mutant myophosphorylase allele from the breeding population. Alternatively, they could more accurately determine selective advantages and disadvantages for cattle with the affected allele. CLINICAL RELEVANCE: Development of this test enables rapid genetic screening of Charolais and related breeds of cattle for detection of the mutation responsible for myophosphorylase deficiency.

Animals↗

PubMedDate not supplied

Factors affecting genetic testing and decisions about prophylactic surgery.

Both of the articles reviewed here as well as the references, suggest that very little is actually known about the impact of many aspects of genetic testing. How decision are made about genetic testing in people who do not have cancer, how the results of testing are used used to guide care, and ultimately how people adjust to prophylactic surgery, which is the most effective form of prevention currently available to those who do have a mutation are not completely clear. This has many implications for practice in general. Oncology nurses who build relationships with those diagnosed with cancer and their families may be one of the best groups of professionals to provide the education and counseling individuals and families need prior to making any decision about genetic testing. Just as many responses to cancer exist, so do many responses to finding out the results of mutation status. Oncology nurses are challenged to help facilitate adjustment to learning that one carries a mutation that significantly increases risk of developing cancer. More nursing research needs to be conducted on how to facilitate this adjustment. Dealing with the unknown can be a frightening experience. Little is known about the long-term effectiveness of prophylactic mastectomy and oophorectomy in unaffected mutation-positive individuals. Most of what is known is based on retrospective review. Nurses are challenged to interpret this information, along with its inherent strengths and weaknesses, to individuals so they can make the best possible decisions. The psychosocial needs of those who undergo prophylactic surgery are not clearly understood. Surgery can have many psychological outcomes, and how individuals adjust to these changes is not clear. More nursing research is needed not only to understand these needs but also to design interventions to facilitate and improve adjustment to not only the information that one is mutation positive but also to prophylactic surgery. People who do not have cancer but have a high risk for cancer because of their genetic background need comprehensive and consistent care by knowledgeable healthcare providers. Although these individuals have not been diagnosed with cancer, they have complex psychosocial needs related to their family history and the decisions being made about prevention strategies. Oncology nurses can help fill this gap in care and provide the necessary support these individuals need.

BRCA2 Protein↗

PubMed1997

Patients' attitudes about autonomy and confidentiality in genetic testing for breast-ovarian cancer susceptibility.

The identification of BRCA1 and BRCA2, two breast-ovarian cancer susceptibility genes, has brought many ethical and social issues to the forefront. This paper presents the results of a survey assessing the attitudes of 238 unaffected first-degree relatives of women with breast or ovarian cancer regarding the ethical issues of autonomy and confidentiality as they relate to BRCA1/2 testing. Baseline knowledge about BRCA1/2 and ethnic and psychosocial characteristics of our study population were examined to determine their association with women's attitudes. The majority of women (86-87%) felt that health care providers should not disclose the results of genetic tests for breast-ovarian cancer susceptibility to insurance companies or employers without written consent; however, only 56-57% felt that written consent should be required for a spouse or immediate family to receive this information. Ninety-eight percent of the women surveyed agreed that genetic testing for breast-ovarian cancer risk should be voluntary. Likewise, most women (95%) agreed that a person should be able to have genetic testing against a doctor's recommendation and 88% of the women surveyed agreed that parents should be able to consent to genetic susceptibility testing on behalf of their minor children. African American women were less concerned than Caucasian women about the protection of confidentiality in families, they were more likely to agree that an individual should still have access to testing when their physicians recommended against it, and they were more supportive of parents' rights to consent to genetic predisposition testing on behalf of their minor children. Women with coping styles characterized by higher optimism were more likely to favor access to genetic testing when a physician recommended against it, and to support parents' rights to consent to testing of their minor children. Therefore, the setting and manner in which genetic counseling and testing are delivered must be appropriately tailored to reflect these attitudinal differences and preferences.

Adolescent↗

PubMedDate not supplied

Pediatric cystic fibrosis: evaluating costs and genetic testing.

The purpose of this article is to present a systematic, critical review of literature and data sources pertaining to pediatric cystic fibrosis, emphasizing and evaluating factors of costs and genetic testing. Cystic fibrosis is the most common fatal genetic disease in the United States. Therefore, its cause, prevalence, cost, and prevention make it important for review. Furthermore, the recent National Institutes of Health Consensus Statement on Genetic Testing for Cystic Fibrosis, the laboratory standards and guidelines published by the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, and the National Human Genome Research Institute, and the increasing interest in genetic testing make it timely to discuss this major pediatric health topic. A broad educational effort, particularly among health care professionals, and genetic screening are advocated.

Child↗

PubMed2004

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved in DNA mismatch repair. We identified 32 kindreds, with germline mutations in one of three genes hMSH2, hMLH1 or hMSH6. In this study, we purposed to evaluate how many high-risk individuals in each family underwent genetic testing: moreover, we assessed how many mutation-positive unaffected individuals accepted colonoscopic surveillance and the main findings of the recommended follow-up. Families were identified through a population-based registry, or referred from other centres. Members of the families were invited for an education session with two members of the staff. When a kindred was consistent with HNPCC, neoplastic tissues were examined for microsatellite instability (MSI) and immunohistochemical expression of MSH2, MLH1 and MSH6 proteins. Moreover, constitutional mutations were searched by SSCP or direct sequencing of the whole genomic region. Of the 164 subjects assessed by genetic testing, 89 were gene carriers (66 affected - that is, with HNPCC-related cancer diagnosis - and 23 unaffected) and 75 tested negative. Among the 23 unaffected gene carriers, 18 (78.3%) underwent colonoscopy and four declined. On a total of 292 first degree at risk of cancer, 194 (66.4%) did not undergo genetic testing. The main reasons for this were: (a) difficulty to reach family members at risk, (b) lack of collaboration, (c) lack of interest in preventive medicine or 'fatalistic' attitude towards cancer occurrence. The number of colorectal lesions detected at endoscopy in gene carriers was significantly (P<0.01) higher than in controls (noncarriers). We conclude that a large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing, despite the benefits of molecular screening and endoscopic surveillance. This clearly indicates that there are still barriers to genetic testing in HNPCC, and that we are unable to provide adequate protection against cancer development in these families.

Adaptor Proteins, Signal Transducing↗

PubMed1993

Reproductive genetic testing and the ethics of parenting.

This paper examines whether and to what extent parents are morally bound to seek reproductive genetic testing. It is concluded that, with rare exceptions, there is no requirement in parenting to seek or accept reproductive genetic testing if the only actions facilitated by such testing are abortion, selective conception or remaining childless. Commitments to other family members or to oneself can provide other, morally or prudentially compelling reasons to elect genetic testing and selective abortion in these circumstances.

Abortion, Eugenic↗

PubMed1997

Actuarial considerations on genetic testing.

In the UK the majority of life insurers employ relatively liberal underwriting standards so that people can easily gain access to life assurance cover. Up to 95% of applicants are accepted at standard terms. If genetic testing becomes widespread then the buying habits of the public may change. Proportionately more people with a predisposition to major types of disease may take life assurance cover while people with no predisposition may take proportionately less. A model is used to show the possible effect. However, the time-scales are long and the mortality of assured people is steadily improving. The change in buying habits may result in the rate of improvement slowing down. In the whole population, the improvement in mortality is likely to continue and could improve faster if widespread genetic testing results in earlier diagnosis and treatment. Life insurers would not call for genetic tests and need not see the results of previous tests except for very large sums assured. In the UK, life insurers are unlikely to change their underwriting standards, and are extremely unlikely to bring in basic premium rating systems that give discounts on the premium or penalty points according to peoples genetic profile. The implications of widespread genetic testing on medical insurance and some health insurance covers may be more extreme.

Actuarial Analysis↗

PubMed2006

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing.

The aim of this study was to assess the impact of a standardized patient information booklet on decisions women make about genetic testing. This French national multi-centre survey included all women with cancer to whom genetic testing for BRCA1/2 mutation had been proposed. The control group was surveyed before the booklet became available (n = 263), and the experimental group, after being given it personally (n = 297). After multivariate adjustment, the booklet had a positive impact on satisfaction with the information provided (Odds ratio (OR) = 2.9; 99% confidence interval (CI) = 1.7-5.0; P = 0.001), decreased the decisional conflicts due to lack of information (OR = 1.9; 99% CI = 1.1-3.3; P = 0.002), and had a marginal impact on knowledge (R2-gain = 3%; P = 0.001). The women in the experimental group decided more frequently to undergo testing (99% vs. 95%; P = 0.009). In addition to a consultation providing more tailored information, a standardized written document improved the decision-making process involved in giving informed consent to genetic testing.

Breast Neoplasms↗

PubMed2000

Psychological consequences of predictive genetic testing: a systematic review.

The aim of this systematic literature review is to describe the psychological consequences of predictive genetic testing. Five databases were searched for studies using standardised outcome measures and statistical comparison of groups. Studies were selected and coded by two independent researchers. From 899 abstracts, 15 papers, describing 11 data sets, met the selection criteria for the review. The studies were of predictive genetic testing for Huntington's disease, hereditary breast and ovarian cancer, familial adenomatous polyposis and spinocerebellar ataxia. One involved children; the rest were of adults. None of the 15 papers reported increased distress (general and situational distress, anxiety and depression) in carriers or non-carriers at any point during the 12 months after testing. Both carriers and non-carriers showed decreased distress after testing; this was greater and more rapid amongst non-carriers. Test result (ie being a carrier or non-carrier) was rarely predictive of distress more than one month after testing (predictive in two of 14 analyses). Pre-test emotional state was predictive of subsequent distress in 14 of 27 analyses. There is a lack of informative studies in this field. The studies reviewed suggest that those undergoing predictive genetic testing do not experience adverse psychological consequences. However, the studies are of self-selected populations who have agreed to participate in psychological studies and have been followed up for no more than three years. Most research has been of testing for Huntington's Disease and included follow-up of no more than one year. The results suggest that testing protocols should include a pre-test assessment of emotional state so that post-test counselling can be targeted at those more distressed before testing. None of the studies experimentally manipulated the amount or type of counselling provided. The relationship between counselling and emotional outcome is therefore unclear and awaits empirical study.

Adaptation, Psychological↗

PubMed2000

Genetic testing and surgical decision making in hereditary colorectal cancer.

Hereditary colorectal cancer results from specific genetic alterations. The causative genes for familial adenomatous polyposis, juvenile polyposis, Peutz-Jeghers syndrome, and hereditary nonpolyposis colorectal cancer have been cloned and characterized within the past decade. Genetic testing has therefore become more widely used to confirm the clinical diagnosis of each of those syndromes, to provide adequate surveillance, to allow screening of at-risk family members, and to help the surgeon in surgical decision making. The aim of this review is to analyze the importance of genetic testing in view of the clinical and surgical management of those gene-carriers individuals, and to discuss how should the surgeon integrate genetic testing in the evaluation of such patients.

Adenomatous Polyposis Coli↗

PubMed2002

Genetic testing and psychology. New roles, new responsibilities.

Advances in genetics and genetic testing promise to catalyze a fundamental change in the practice of medicine. Psychologists have much to offer as psychotherapists, researchers, educators, and policymakers to a society heavily influenced by the genetic revolution. To make the most of new opportunities available to mental health professionals in genetics, psychologists must know basic genetic principles and learn what is new about 21st-century genetics. The core competencies for all health professionals developed by the National Coalition for Health Professional Education in Genetics are related in this article to the significant roles psychologists can play in helping individuals with genetic concerns to cope with vulnerability, optimize family interaction, and improve health behaviors.

Adaptation, Psychological↗

PubMed2003

[Genetic testing when tumor susceptibility, especially for colorectal cancer, is suspected].

Approximately 5-10% of all tumours can be explained by inherited susceptibilities. While some of the underlying traits are rare, the total number of subjects at an increased genetic tumour risk is quite large in our population. Genetic testing has gained considerable importance in the identification of persons with such traits allowing their systematic medical surveillance and early detection and treatment of tumours. Predisposition for tumour development has to be considered in the following cases, 1) when the onset of the neoplasm was at an age earlier than the average of that for the general population, 2) if synchronous or metachronous foci occur in the same organ or organs at an increased risk due to the same trait, 3) if the tumour displays typical histological pecularities or occurs at an unusual position within an organ, 4) if the patient suffers from a genetic disorder with an increased tumour risk, 5) if several relatives were/are suffering from the same or genetically associated tumours and/or 6) a "tumour gene" has already been identified in a relative by molecular genetic testing. Thanks to the progress of the genome project, the number of genes identified has led to a steady increase in the detection of mutations which may lead to tumourigenesis. Identification and characterisation of a mutated "tumour gene" in a patient allows the verification of a clinical and/or genealogical diagnosis. Genetic testing is indicated if medical non-heroic measures are available to identify a tumour at an early state and to prevent its progression to an incurable disease. Also, healthy relatives can profit from the identification and characterization of the tumour trait. If they have inherited the same gene mutation they also need a systematic medical surveillance to improve their life expectancy and quality. Because gene testing raises a broad spectrum of medical, social, psychological, and ethical issues, genetic counselling has to be offered before, during and after molecular genetic analysis. In particular in genetic counselling related to tumour risks, problems often develop due to the involvement of an unusually large number of experts representing various medical disciplines who may hold different views. If several professionals are involved in the diagnosis and the genetic workup it is advisable for them to communicate directly with each other and not to misuse the patient as their "go-between". In this paper special emphasis is given to genetic testing for predispositions to colorectal cancer.

Adenomatous Polyposis Coli↗