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PubMedDate not supplied

An international survey of predictive genetic testing in children for adult onset conditions.

PURPOSE: Predictive genetic testing is offered to asymptomatic adults even when there is no effective prophylaxis or treatment. Testing of young people in similar circumstances is controversial, and guidelines recommend against it. We sought to document descriptive examples of the occurrence of genetic testing in young people for nonmedical reasons, in the countries where guidelines exist. METHODS: Clinical geneticists in the USA, Canada, UK, Australia, and New Zealand were surveyed about the occurrence and outcomes of testing in asymptomatic young people for conditions where no prophylaxis or treatment exists and onset is usually in adulthood. RESULTS: Of 301 responses, details were provided of 49 cases where such testing had occurred. The most common condition tested for was Huntington Disease. In 22 cases (45%), the young person tested was immature, defined as under the age of 14 years. Results were disclosed to only two immature minors and in three cases parents experienced clinically significant anxiety related to how they would pass on information to their gene positive child. In 27 cases (55%), the young person tested was mature. Results were disclosed to 26 mature minors and it was reported that two individuals experienced an adverse event. Consistent follow-up did not take place and findings represent the minimum frequency of adverse events. The majority of respondents agree with existing guidelines but many believe each case must be considered individually. CONCLUSION: Clinicians agree with existing guidelines regarding predictive testing in young people, but choose to provide tests for nonmedical reasons in specific cases.

Adolescent↗

PubMed2004

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.

The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the "Italian National Project for Standardisation and Quality Assurance of Genetic Tests". Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic tests (cystic fibrosis, beta-thalassaemia, familial adenomatous polyposis coli and fragile-X syndrome) and cytogenetic tests (prenatal and postnatal, the latter included cancer cytogenetics). The response rate was high (88.2%). The level of analytical accuracy was good, i.e., the percentage of laboratories that correctly genotyped all samples was 89.3% for cystic fibrosis, 90.9% for beta-thalassaemia, 100% for familial adenomatous polyposis coli (despite two laboratories did not complete the analysis because the amount of DNA was considered insufficient), and 90.5% for fragile-X syndrome. Written reports differed widely and were judged "inadequate" in over 50% of cases. Most laboratories from the present study already have experience in previous European external quality assessments for at least one genetic test; this can explain the higher analytical accuracy in the Italian external quality assessment with respect to quality control programmes in other countries. Collaborative networks are strongly suggested to improve the quality of the reports.

Cystic Fibrosis↗

PubMed2004

Retinoblastoma: genetic testing versus conventional clinical screening in India.

INTRODUCTION: Genetic testing is increasingly being used to evaluate susceptibility to hereditary diseases because it is a cost effective screening method. Predictive testing for retinoblastoma can help to save the vision and avoid unnecessary (and invasive) eye examinations for probands and their close relatives. This study was undertaken to evaluate the cost effectiveness of the retinoblastoma genetic screening strategy established in our hospital. STUDY DESIGN: Cytogenetic study of peripheral blood, mutational, and methylation analyses from the tumor DNA of 25 patients with retinoblastoma was undertaken. The cost for retinoblastoma (RB1) gene screening was calculated based on the cost of the chemicals and consumables used and the clinical examination charges at our hospital. A comparison was made between the cost of genetic screening and clinical testing for retinoblastoma. Retinoblastoma patients underwent clinical management and genetic testing at Sankara Nethralaya, Chennai, India. RESULTS: By adopting a genetic screening strategy, a 3.5-fold cost saving was seen for a proband while a 6-fold saving was seen for a family with two sibs compared to the cost of clinical examination. The clinical examination fee and cost of genetic screening for a proband was dollarUS536 and dollarUS152, respectively, while for a nuclear family with two sibs the costs were dollarUS1071 and dollarUS175, respectively. DISCUSSION: Savings for a family will be higher if indirect costs, such as savings in travel times to and from the hospital and labor savings, were taken into account. Cost will be a major factor in determining the implementation of genetic screening for RB1 gene in the clinical practice. CONCLUSION: In our study in India, genetic screening for retinoblastoma was cheaper than conventional screening and was useful in the genetic counseling of the families.

Child, Preschool↗

PubMed2005

Architectures of genetic medicine: comparing genetic testing for breast cancer in the USA and the UK.

This paper compares the development of genetic testing for breast cancer (BRCA testing) in the USA and the UK. It argues that national political cultures played an important role in how these genetic testing technologies were shaped, and that the shapes of these technologies had important implications for the users of these systems. In order to demonstrate the roles of national social and political elements in the development of new genetic testing technologies, I introduce the concept of a technology's architecture, which is made up of components and the specific ways in which these components are assembled to fulfill particular functions. In the USA, four very different BRCA testing systems initially emerged. However, one biotechnology company, Myriad Genetics, eventually used its legal and economic position to become the sole provider of testing. It offered BRCA testing the way many other laboratory tests were provided in the USA, available to anyone through any physician. The shape of this testing service had important implications for its participants, defining the client as a consumer who could demand access to any of Myriad's laboratory services, but could not choose among testing systems. In the UK, the government-run National Health Service provided testing through regional genetics clinics, using family history information to assess risk and triage care. Clients in the UK were defined as citizens and patients, who had the right to equal access to the testing system but could not demand any specific services.

Breast Neoplasms↗

PubMed1992

Genetic testing in the workplace: a view from the USA.

Progress in human genetics, accelerated by the Human Genome Project, is leading to a rapid proliferation in the number of genetic tests. Although they have their benefits, genetic tests have in the past been used by various societal institutions, including employers, to discriminate against and stigmatize individuals. In the light of the increase in the number of tests and some current reports of discrimination in employment, a variety of legal and regulatory measures have been proposed to prevent genetic discrimination in the workplace.

Genetic Diseases, Inborn↗

PubMed1998

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↗

PubMedDate not supplied

Genetic testing for breast and ovarian cancer susceptibility: a family experience.

The purpose of this article is to provide an overview of current knowledge concerning genetic testing for breast and ovarian cancer susceptibility. This overview includes 1) a brief history of genetic testing for breast and ovarian cancer susceptibility, 2) a review of factors that midwives and other health care providers need to consider before offering this type of testing to their clients, 3) management options for clients at high risk for hereditary breast and ovarian cancers, and 4) a discussion of preliminary findings from an ongoing study concerning the family experience of genetic testing, which illustrates some of the ethical issues that emerge for individuals and families during the family experience of genetic testing for breast and ovarian cancer susceptibility.

Breast Neoplasms↗

PubMed2003

Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway.

This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63 % of the females underwent genetic testing compared with 24% of the males (p<0.05%). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives.

Age Factors↗

PubMed2006

Attitudes to genetic testing for deafness: the importance of informed choice.

With recent progress in the identification of genes for deafness, it is highly likely that genetic testing, including pre-natal testing, for deafness will become more widely available. In a context where there are concerns about pre-natal testing, and where many in the Deaf community contest the understanding of deafness as a disability, it is important to examine the attitudes of Deaf/deaf people toward genetic testing. This qualitative study employed in-depth interviews to investigate the views about genetic testing for deafness of 19 participants, who were identified as functionally deaf or hearing impaired, or as belonging to the Deaf community. The key findings are that participants were generally supportive of genetic testing for deafness but only when full information about all relevant aspects of deafness is given to prospective users of genetics services. Participants emphasized informed choice, stating that information about medical and technological options for deaf people should be provided, together with information about communication, education, and the experience of being deaf. Although there was less support for pre-natal diagnosis and termination of pregnancy for deafness, most participants nonetheless felt that individual choice was important and that pre-natal diagnosis should be made available to those who wanted to use it.

Abortion, Eugenic↗

PubMed1998

Prenatal genetic testing: content of discussions between obstetric providers and pregnant women.

OBJECTIVE: To document the content and accuracy of discussions about prenatal genetic testing between obstetric providers and pregnant women. METHODS: The first prenatal visits of 169 pregnant women with 21 obstetricians and 19 certified nurse-midwives were audiotaped and analyzed for whether a discussion of family history or genetic testing took place and if so, its length, content, and accuracy. RESULTS: Family history was discussed in 60% of visits, maternal serum marker screening in 60%, second-trimester ultrasonography for fetal anomalies in 34%, and for women at least 35 years old, amniocentesis or chorionic villus sampling (CVS) in 98%. The length of discussions of genetic testing averaged 2.5 minutes for women younger than 35 years of age and 6.9 minutes for older women. Topics discussed most often were the practical details of testing, the purpose of testing, and the fact that testing is voluntary. Discussions seldom were comprehensive. Obstetricians were more likely to make a recommendation about testing than were nurse-midwives and were less likely to indicate that testing is voluntary. Most women were satisfied with the amount of information, and the majority of women of advanced maternal age had made a decision about amniocentesis or CVS by the end of the visit. CONCLUSION: The information about genetic testing provided in the first prenatal visit is inadequate for ensuring informed autonomous decision-making. Guidelines addressing the content of these discussions should be developed with input from obstetricians, nurse-midwives, genetic counselors, and pregnant women.

Adult↗

PubMed2006

Disparities in genetic testing: thinking outside the BRCA box.

The impact of predictive genetic testing on cancer care can be measured by the increased demand for and utilization of genetic services as well as in the progress made in reducing cancer risks in known mutation carriers. Nonetheless, differential access to and utilization of genetic counseling and cancer predisposition testing among underserved racial and ethnic minorities compared with the white population has led to growing health care disparities in clinical cancer genetics that are only beginning to be addressed. Furthermore, deficiencies in the utility of genetic testing in underserved populations as a result of limited testing experience and in the effectiveness of risk-reducing interventions compound access and knowledge-base disparities. The recent literature on racial/ethnic health care disparities is briefly reviewed, and is followed by a discussion of the current limitations of risk assessment and genetic testing outside of white populations. The importance of expanded testing in underserved populations is emphasized.

Genetic Predisposition to Disease↗

PubMed2006

Acceptance for preventive genetic testing and prophylactic surgery in women with a family history of breast and gynaecological cancers.

The fear of family members of patients with breast or gynaecologic cancer of developing a similar disease is often high. We investigated the acceptance for genetic testing of untested women with a positive family history and their attitude for prophylactic surgery. A total of 659 women with a familial history of breast or gynaecologic cancer were asked to answer a questionnaire regarding their interest in genetic testing for breast cancer as well as for gynaecologic carcinoma and their interest in prophylactic surgery. Genetic testing is seen to be accepted by the majority of participants: 85.0 and 77.8% chose a genetic test for breast and gynaecologic cancer, respectively. Prophylactic surgery was much less chosen; prophylactic mastectomy as well as prophylactic hysterectomy or bilateral prophylactic oophorectomy was an option only for a minority of women. Genetic testing for risk assessment of healthy women with a positive family history was observed to be accepted by a majority of participants. Prophylactic surgery was an option only for a minority and was not acceptable for most of the women.

Adult↗

PubMed2006

False-negative factor V Leiden genetic testing in a patient with recurrent deep venous thrombosis.

False-negative genetic testing of the factor V Leiden (fVL) mutation is unusual. We report a case of a young woman with a history of deep venous thrombosis tested for the fVL at four separate laboratories on four separate dates. Two laboratories reported the patient to be heterozygous for the fVL, while the other two reported no evidence of a mutation. Testing methods of the various laboratories were reviewed, and additional testing was performed on stored and newly drawn DNA samples, including sequencing of the fVL gene segment. The preponderance of evidence indicates the patient to be heterozygous for the fVL mutation. Dissection of data suggests that either sample misidentification or faulty allele specific amplification methods could have led to false-negative results in two laboratories. In one of the two laboratories, misinterpretation of results and clerical error could not be excluded. There is a need for standardization of optimized fVL genetic testing methods. Further education of ordering physicians on the limitations of genetic testing is necessary.

Adolescent↗

PubMed1999

Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis.

BACKGROUND: The identification of germline mutations in juvenile polyposis (JP) families has made presymptomatic genetic testing possible. In this study we report the results of genetic testing in two large JP families and develop an algorithm for the clinical management of these patients. METHODS: DNA was extracted from 55 members of 2 JP kindreds, and the Smad4 mutations in the germline were determined by direct sequencing. All family members were then tested for mutations with use of single-strand conformational polymorphism analysis and were invited for genetic counseling. RESULTS: All 18 affected members of both kindreds had a 4-bp deletion in exon 9 of the Smad4 gene. In 30 patients at risk for JP, 17 had previously had negative endoscopic screening results and 13 had never been screened. Five patients at risk had inherited germline Smad4 mutations. Two carriers have had hematochezia but have not been screened, whereas 3 were asymptomatic. The mean age of carriers was 29.8 years (range 9.1-49.5 years), whereas that of noncarriers was 41.0 years (range 8.1-76.5 years). CONCLUSIONS: Compliance has been a problem with endoscopic screening for JP. With genetic testing non-carriers may no longer require frequent screening endoscopy, whereas gene carriers can be targeted for close endoscopic surveillance and early intervention to prevent the development of gastrointestinal cancers. Direct genetic testing significantly improves the presymptomatic diagnosis of gene carriers in JP families with Smad4 mutations.

Adolescent↗

PubMed1993

Prenatal genetic testing and geneticization: mother matters for all.

Prenatal genetic testing represents the most widespread human application of reproductive technology, and its use is necessarily gendered. Moreover, its application both reflects and generates the process of 'geneticization' that increasingly orients contemporary western-world stories of health and disease. Taking a woman-centered approach, this paper examines some of the stories being told about testing; questions their themes of 'reassurance' and 'choice', their construction of 'risk', and their assumptions about disability; and explores the 'life-style' testing creates for (pregnant) women. Testing itself, and its power to control how we live and the children we bear, raises complex and troubling matters that require continued and fresh examination.

Abortion, Induced↗

PubMedDate not supplied

Physicians' propensity to offer genetic testing for Alzheimer's disease: results from a survey.

PURPOSE: Examine physician knowledge, preferences, and use of genetic tests for Alzheimer's disease (AD). METHODS: Survey of 426 community-based physicians treating AD patients. RESULTS: Majority gave inaccurate estimates of AD risk. Medical specialty predicted appropriate use of current tests. Recommending substances to prevent memory loss was related to acceptance of error-free tests. High patient loads and familiarity with genetic tests predicted lower tolerance for test error. CONCLUSION: Physicians do not endorse indiscriminate genetic susceptibility testing for AD. However, insufficient knowledge of disease risk, etiology, genetic susceptibility, and use of existing tests indicated a need for further physician education in this area.

Alzheimer Disease↗

PubMed1998

Comfort care interventions in a preimplantation genetic testing program.

The fields of human genetics and assisted reproductive technology (ART) have experienced many scientific advances over the past 50 years. The integration of these two clinical specialties has resulted in the ability to perform preimplantation genetic testing (PGT) on an embryo created through ART. This is a technology that can be used by individuals at risk for the transmission of a genetic disorder to prevent occurrence of the disorder in their child. Both the process of PGT and the life experiences that lead to the decision to use PGT stimulate many levels and types of discomfort. Holistic comfort care interventions performed by the nurse are uniquely designed to eliminate or reduce discomfort and to enable those at risk to utilize the available technologies to create healthy families.

Adult↗

PubMed2002

Predictive genetic testing: mediators and moderators of anxiety.

Mediators and moderators of anxiety following predictive genetic testing were investigated in a cross-sectional study of 208 individuals at risk for familial adenomatous polyposis (FAP). Receiving a positive test result was associated with increased anxiety. The relationship between test result and anxiety was mediated by how threatened individuals felt by their test results. The impact of a positive test result was greater for those who felt distressed about FAP in their families, perceived FAP to be more serious, and perceived the genetic test to be more accurate. The results suggest that assessing, and possibly modifying, people's appraisals of the condition and of its impact on the family and of the threat of the genetic test may help to reduce subsequent anxiety. This has implications for the practice of genetic counseling.

Adolescent↗